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searching for Globin 331 found (415 total)

alternate case: globin

Thalassemia (6,592 words) [view diff] exact match in snippet view article find links to article

of two ζ globins (zeta globins) and two ε globins (epsilon globins) (ζ2ε2) Hb Gower-2, composed of two alpha globins and two epsilon globins (α2ε2) Hb

genes is normal in EKLF-deficient mice, and since all genes on the human β-globin locus exhibit the CACCC elements, researchers began searching for other

sees that α thalassemias results in decreased alpha-globin production, therefore fewer alpha-globin chains are produced, resulting in an excess of β chains

Alpha-globin transcription factor CP2 is a protein that in humans is encoded by the TFCP2 gene. TFCP2 is also called Late SV40 factor (LSF) and it is induced

insertions near or upstream of the β globin gene. Most often, mutations occur in the promoter regions preceding the beta-globin genes. Less often, abnormal splice

hemoglobin is a symmetrical arrangement of two identical α-globin subunits and two identical β-globin subunits. Longer multimeric proteins such as microtubules

Procurement Globin Chain Production It has also been linked to three main processes that are all essential to transcription of the β globin gene: Chromatin

globins and two ε (epsilon) globins, i.e., ζ2ε2 Hb Gower-2, composed of two α globins and two ε globins (α2ε2) Hb Portland, composed of two ζ globins

vocalist William DuVall), black metal musician Unta Gleeben Glabben Globben Globin (played by bassist Mike Inez), and hipster blogger Stanley Eisen (played

the β-globin locus. The CTCF insulator is especially important in vertebrates, while the gypsy insulator is implicated in Drosophila. The β-globin locus

interferes with HbS polymerization. HPFH can be caused by mutations in the β globin gene cluster, or the γ gene promoter region. In addition HbF levels are

of sequence and structure flanking the mouse and human beta-globin loci: the beta-globin genes are embedded within an array of odorant receptor genes"

revealed that one encoded isoform (BP1) functions as a repressor of the beta-globin gene while the other isoform lacks that function. GRCh38: Ensembl release

manner and is tissue-specific, as seen in the selective expression of β-globin genes in erythroid cells. Expression levels of genes can be modified by

of sequence and structure flanking the mouse and human beta-globin loci: the beta-globin genes are embedded within an array of odorant receptor genes"

by deletions of the entire delta and beta genes sequences and only gamma-globin and HbF are formed. Rarely, non-deletional forms have been reported. When

have been studies that show changes in the globin genes. There have been noted changes in the beta-globin sequence, to what is known as the sickle hemoglobin

normal alpha globin chains (HBA) and two delta-beta globin fusion chains which occurs due to a "crossover" between the delta (HBD) and beta globin (HBB) gene

of sequence and structure flanking the mouse and human beta-globin loci: the beta-globin genes are embedded within an array of odorant receptor genes"

of sequence and structure flanking the mouse and human beta-globin loci: the beta-globin genes are embedded within an array of odorant receptor genes"

genes are in two clusters on different chromosomes, called the α-globin and β-globin loci. These two gene clusters are thought to have arisen as a result

1016/0022-2836(85)90039-7. PMID 2411938. Safaya S, Rieder RF (1988). "Dysfunctional alpha-globin gene in hemoglobin H disease in blacks. A dinucleotide deletion produces

of sequence and structure flanking the mouse and human beta-globin loci: the beta-globin genes are embedded within an array of odorant receptor genes"

University. De Lange obtained her Masters on "Chromatin structure of the human β-globin gene locus" at the University of Amsterdam in 1981, and subsequently her

of sequence and structure flanking the mouse and human beta-globin loci: the beta-globin genes are embedded within an array of odorant receptor genes"

(KLF) family. It binds to SP1- like GC- rich sequences in epsilon and gamma globin gene promoters inhibiting cellular growth and causing apoptosis. In the

of sequence and structure flanking the mouse and human beta-globin loci: the beta-globin genes are embedded within an array of odorant receptor genes"

be greater than 13. Conversely, in thalassemia, which is a disorder of globin synthesis, the number of RBCs produced is normal, but the cells are smaller

position. The β-globin gene is found on the short arm of chromosome 11. The association of two wild-type α-globin subunits with two mutant β-globin subunits

organization L1Base Schimenti JC, Duncan CH (February 1984). "Ruminant globin gene structures suggest an evolutionary role for Alu-type repeats". Nucleic

of sequence and structure flanking the mouse and human beta-globin loci: the beta-globin genes are embedded within an array of odorant receptor genes"

NC, Higgs DR, Orkin SH (1992). "In vivo footprinting of the human alpha-globin locus upstream regulatory element by guanine and adenine ligation-mediated

produce normal human globin from normal human mRNA, sickle cell globin from sickle cell mRNA, and the abnormal alpha/beta globin chain abnormality of

cell disease occurs when a person inherits two abnormal copies of the β-globin gene (HBB) that makes haemoglobin, one from each parent. This gene occurs

Reveals a Genetic Interaction and a Role for These Factors in Embryonic Globin Gene Silencing". asm.org. Archived from the original on 15 December 2018

University of Oxford. He is known for his work on the regulation of alpha-globin and the genetics of alpha-thalassemia. He is currently working in understanding

complete defects in alpha globin production, leading to a relative abundance of beta globin chains in the cell. These excess beta globin chains aggregate to

out of 4 of the α-globin genes. Hemoglobin H disease is a genetic disorder resulting in absent or impaired production of the α-globin protein, a normal

Since the amino acid substitution can occur at different positions of the β-globin chain of the protein, there are several variants. In hemoglobin O-Arab (HbO-Arab)

met-hemoglobin which then further disassociates into free heme along with globin chain. The free heme will then be oxidized into free met-heme and sooner

Hematopoietic Stem Cells Transduced Ex Vivo with a Lentiviral βΑ-T87Q -Globin Vector (LentiGlobin BB305 Drug Product)". Blood. 124 (21): 549. doi:10.1182/blood

cleave hemoglobin between residues Phenylalanine 33 and Leucine 34 of α-globin subunit. The name plasmepsin may come from Plasmodium (the organism) and

1999). "An olfactory receptor gene is located in the extended human beta-globin gene cluster and is expressed in erythroid cells". Genomics. 61 (1): 15–23

from the other. A sickle allele is always the same mutation of the beta-globin gene (glutamic acid to valine at amino acid six). In contrast, beta-thalassemia

part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. GRCh38: Ensembl release 89: ENSG00000169564

a variant of hemoglobin in which a mutation in the alpha globin gene produces an alpha globin chain that is abnormally long. It is the most common nondeletional

beta-globin genes are a response to deleterious selection from unequal crossing over in the beta-globin genes. Comparisons between alpha-globin, which

(1991). "Activation of globin gene expression by cDNAs from induced K562 cells. Evidence for involvement of ferritin in globin gene expression". J. Biol

Hemoglobin J is an abnormal hemoglobin, an alpha globin gene variant and present in various geographic locations. It was first reported in a black American

associated with de-repression of the fetal globin gene. KLF2 (originally Lung KLF ) also has a role in embryonic globin gene expression, as does KLF3 (originally

example, β-thalassemia may be caused by several different mutations in the β-globin gene. Allelic heterogeneity should not be confused with locus heterogeneity

Treatment of the inherited blood disorder thalassemia depends upon the level of severity. For mild forms of the condition, advice and counseling are often

(homolog e.g. all globin protein), which are separated from each other after a speciation event, e.g. human beta and chimp beta globin. An orthologous gene

part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. This multiexon structural mRNA

globin genes and the thalassaemias. In 1974, Williamson's group demonstrated that severe alpha-thalassaemia is due to a deletion in the alpha globin gene

Heller P, DeSimone J (Aug 1991). "A homeodomain protein binds to gamma-globin gene regulatory sequences". Proceedings of the National Academy of Sciences

implications for the human blood disorder β-thalassemia. Using information on β-globin DNA polymorphisms from Stylianos Antonarakis and others, Kazazian helped

Taketani S (Feb 2004). "Heme positively regulates the expression of beta-globin at the locus control region via the transcriptional factor Bach1 in erythroid

divergence. These gene clusters include the Hox gene cluster, the human β-globin gene cluster, and four clustered human growth hormone (hGH)/chorionic somatomammotropin

and Wallace RB "Discrimination among the human beta A, beta S, and beta C-globin genes using allele-specific oligonucleotide hybridization probes." Am J

Taketani S (Feb 2004). "Heme positively regulates the expression of beta-globin at the locus control region via the transcriptional factor Bach1 in erythroid

for beta-globin, the first complete primary structure of a eukaryotic mRNA. In 1979, his research group isolated the gene for epsilon-globin (HBE1), a

1177/1932296814538774. PMC 4455477. PMID 25355712. "N-Baltimore.html". globin.bx.psu.edu. Retrieved 2017-03-30. "Medical Archives - Personal Paper Collections:

2000). "FKLF-2: a novel Krüppel-like transcriptional factor that activates globin and other erythroid lineage genes". Blood. 95 (11): 3578–84. doi:10.1182/blood

titled The organization of repetitive sequences in two cloned mouse beta-globin clusters. Haigwood completed a postdoctoral fellowship at Johns Hopkins

analysis of the olfactory receptor genes flanking the human and mouse beta-globin gene clusters". Proc. Natl. Acad. Sci. U.S.A. 97 (26): 14560–5. Bibcode:2000PNAS

analysis of the olfactory receptor genes flanking the human and mouse beta-globin gene clusters". Proc. Natl. Acad. Sci. U.S.A. 97 (26): 14560–5. Bibcode:2000PNAS

1620/tjem.242.83. PMID 28566565. "Entrez Gene: GATA1 GATA binding protein 1 (globin transcription factor 1)". Da Costa L, O'Donohue MF, van Dooijeweert B, Albrecht

expression of alpha-globin gene cluster, causing alpha-thalassemia." ATRX interacts with the transcription co-factor DAXX and the alpha-globin gene cluster.

PMC 286206. PMID 4905667. Saiki RK, et al. (1985). "Enzymatic Amplification of β-globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle

hemoglobin variant. It originates from a point mutation in the human β-globin locus and is one of the most common hemoglobin variants worldwide. It is

inherited condition that has variants in alpha or beta globin genes that result in lower levels of globin chains required to make hemoglobin, resulting in alpha

erythrocytes (peripheral blood CD34+ cells), the stem cell factor (SCF) induces γ-globin gene expression by regulating downstream transcription factor COUP-TFII

glisentide (INN) glisindamide (INN) glisolamide (INN) glisoxepide (INN) globin zinc insulin injection (INN) Glofil-125 glofitamab (INN) gloxazone (INN)

complex binding to a specific motif (NF-E2) in the regulatory regions of β-globin and other erythroid-related genes. MAFK has been identified in many vertebrates

asianplant.net/Apocynaceae/Alstonia_macrophylla.htm Alstonia macrophylla at Globin-Med at http://www.globinmed.com/index.php?option=com_content&view=artic

interactions of CAP+1 (A-->C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north Indians". Eur. J

Alam. Synteny and Collinearity in Plant Genomes (2008). Protoglobin and globin-coupled sensors (2008). "About Professor Maqsudul Alam". Basic & Applied

defined the base sequence of a complete mammalian gene (the gene for beta globin), which enabled him to determine its organization in detail, including its

a 130-kb region enclosing the alpha-globin gene cluster, the alpha-locus controlling region, and two non-globin genes in human and mouse". Mamm Genome

research, some of Kaufman's discoveries include the characterization of the β-globin genes and the discovery of the CD7 ligand, K12. Additionally, he has focused

of chicken beta-actin gene, (G) the splice acceptor of the rabbit beta-globin gene The resulting synthetic element was used in the pCAGGS expression vector

"Identification of novel candidate genes for globin regulation in erythroid cells containing large deletions of the human beta-globin gene cluster". Blood Cells Mol

"Identification of novel candidate genes for globin regulation in erythroid cells containing large deletions of the human beta-globin gene cluster". Blood Cells Mol

Biochemistry from 1978 to 1980, where he carried out genomic cloning of the B-globin gene cluster in Chickens.... He continued in the same department for six

fail to express the major adult α-globin, α1, due to the same 5' truncation of the gene, and have lost the β-globin gene entirely. Zhao et al. propose

(January 1979). "Synthesis of rabbit β-globin in cultured monkey kidney cells following infection with a SV40 β-globin recombinant genome". Nature. 277 (5692):

abnormal hemoglobin, inability to manufacture one or the other of the peptide globin chains of the hemoglobin, and deficiencies of the Embden-Meyerhoff monophosphate

cells, in which CHD4 but not Mi-2 is required for suppression of fetal globin genes. NuRD is traditionally thought of as a primarily repressive complex

Erlich HA; Arnheim N (20 December 1985). "Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle

Therapeutics Inc. Sadelain also designed lentiviral vectors encoding the β-globin gene for the treatment of severe hemoglobinopathies, which include β-thalassemia

sequences. This model has been demonstrated by the previous work on the beta-globin locus. The binding of CTCF has been shown to have many effects, which are

region of the β-globin gene. An individual carrying only one affected allele will have no or extremely low levels of the mutant β-globin mRNA. An even more

This was reported for a 710 bp DNA sequence upstream of the bovine beta globin gene. The DNA arrangement forms a composite transposon whose presence has

Groudine, M; Weintraub, H (1975). "Rous sarcoma virus activates embryonic globin genes in chick fibroblasts". Proc Natl Acad Sci USA. 72 (11): 4464–4468

titled Homologous DNA recombination in primate cells of human adult alpha globin gene duplication units. She studied the mechanisms of DNA recombination

SSRP1/PREIIBF is involved in activation of the human embryonic beta-like globin gene". Mol. Cell. Biol. 18 (5): 2617–28. doi:10.1128/MCB.18.5.2617. PMC 110641

Kinniburgh AJ, Mertz JE, Ross J (July 1978). "The precursor of mouse beta-globin messenger RNA contains two intervening RNA sequences". Cell. 14 (3): 681–693

human alpha globin genes). Her research focused on the study of two regions that may be involved in the activation of human alpha globin genes during

synthesis ensuring a coordinated regulation of the synthesis of the heme and globin moieties of hemoglobin. Thus plays an essential protective role for RBC

University of Oxford where her research investigated the control of alpha globin genes and was awarded in 1997. Following her education and training, Barbour

Globin Loci. Proceedings of the Fourth Annual Comprehensive Sickle Cell Center Symposium on the Distribution and Evolution of Hemoglobin and Globin Loci

Reveals a Genetic Interaction and a Role for These Factors in Embryonic Globin Gene Silencing". Mol. Cell. Biol. 33 (15): 2976–87. doi:10.1128/MCB.00074-13

Yamamoto M, Tanimoto K, Engel JD (Jul 2002). "An embryonic/fetal beta-type globin gene repressor contains a nuclear receptor TR2/TR4 heterodimer". The EMBO

papillomavirus type 16 E7 mRNA by the peptide SEQIKA, shared by rabbit alpha(1)-globin and human cytokeratin 7". Journal of Virology. 76 (14): 7040–8. doi:10.1128/JVI

mutation in the HBB gene. The HBB gene encodes information to make the beta-globin subunit of hemoglobin, which is the protein red blood cells use to carry

second most expensive drug in the world. The company is developing LentiGlobin gene therapy for the treatment of sickle cell disease and cerebral adrenoleukodystrophy

Horn, G.; Erlich, H.; Arnheim, N (1985). "Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle

Glinka Dmitry Glinka (twice) Sergey Glinkin Sergey Glinsky (ru) Nikolai Globin (ru) Nikolai Glotov (ru) Ivan Glukhikh (ru) Dmitry Glukhov (ru) Ivan Glukhov

intervening sequence of the mouse beta-major globin gene shares extensive homology only with beta-globin genes". Nature. 275 (5682): 772–774. doi:10.1038/275772a0

can also cause hydrops fetalis when all four of the genetic loci for α globin are deleted or affected by mutation. This is termed Hb Barts (consists of

syndrome Mantle cell lymphoma (t11;14) Meckel syndrome methemoglobinemia, beta-globin type Mixed lineage leukemia multiple endocrine neoplasia type 1 Hereditary

Yamamoto M, Tanimoto K, Engel JD (Jul 2002). "An embryonic/fetal beta-type globin gene repressor contains a nuclear receptor TR2/TR4 heterodimer". The EMBO

PMID 6272397. Costantini, F.; Lacy, E. (1981). "Introduction of a rabbit β-globin gene into the mouse germ line". Nature. 294 (5836): 92–4. Bibcode:1981Natur

silencing modifications from the 16 kb heterochromatic domain into the β-globin locus. Moreover, USF1 and USF2 can bind to the 5' DNase I hypersensitive

Sox6 appears to have a crucial role in the transcriptional regulation of globin genes, and in directing the terminal differentiation of red blood cells

Erlich HA, Arnheim N (December 1985). "Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle

Maniatis lab isolated and characterized the entire “cluster” of human b-globin genes, which were the first human genes to be cloned and their DNA sequences

gene is highly conserved in vertebrates which is upstream from the alpha globin gene cluster. Within the fifth intron of the gene there is a regulatory

genes are juxtaposed (e.g. the 5'HS4 insulator upstream of the chicken β-globin locus, and loci in two Saccharomyces spp.). All cells of a given species

variants, including a point mutation in the promoter region of the gamma globin gene responsible for the Brazilian form of HbF persistence. Identified molecular

AT-rich DNA sequence known to be recognized by a SWI/SNF complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid

shock" domain binds specifically to H-DNA upstream from the human gamma-globin genes". J. Biol. Chem. 269 (19): 14130–9. doi:10.1016/S0021-9258(17)36764-9

LCR-F1: a bZIP transcription factor that activates erythroid-specific, human globin gene expression". Nucleic Acids Research. 22 (12): 2383–91. doi:10.1093/nar/22

Grosveld F (1984). "DNA sequences required for regulated expression of beta-globin genes in murine erythroleukemia cells". Cell. 38 (1): 265–273. doi:10

Mullis's 1985 paper with Saiki and Erlich, "Enzymatic Amplification of β-globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle

protein 2 may be involved in the locus control region regulation of the beta-globin gene cluster". Biochemistry and Cell Biology. 80 (6): 765–70. doi:10.1139/o02-164

caused by a mutation in the β-globin gene (HBB). People who inherit one copy of the HbE gene and one copy of the normal β-globin gene (HbA) are said to "carry

Load-activated Calcium Channel (CLAC) Family 1.A.107 The Pore-forming Globin (Globin) Family 1.B.1 General bacterial porin family 1.B.2 Chlamydial porin

and Itano's first publication on the disease. Itano also found that the globin portion of sickle cell hemoglobin had a barely detectable difference in

by destroying senescent red blood cells through phagocytic action. The globin chains are re-used, while the iron-containing portion, heme, is further

(1989). "A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia". Proc

These hubs were discovered during observation of activated alpha- and beta-globin loci. ACHs are formed through extensive DNA looping to form a "hub" of regulatory

Umbellulone induces rapid production of methemoglobine. Methemoglobine is a globin in the blood that mainly consists of ferric (Fe3+) haemoglobin, instead

"Expression of miR-210 during erythroid differentiation and induction of gamma-globin gene expression". BMB Reports. 42 (8): 493–499. doi:10.5483/BMBRep.2009

Nicolis S, Ronchi A, Giglioni B (1990). "DNA sequences regulating human globin gene transcription in nondeletional hereditary persistence of fetal hemoglobin"

alpha-globin genes in place of mouse alpha-globin genes, and they replaced the beta-globin genes of the mouse with sickle cell effected human beta-globin genes

AL, Yu AL, Mathews LS, Vaughan J, et al. (1992). "Effect of activin A on globin gene expression in purified human erythroid progenitors". Blood. 79 (3):

ISBN 9780323034104. Erythropoiesis Heme synthesis is coordinated with globin synthesis during erythropoiesis and as such does not occur in the mature

These hubs were discovered during observation of activated alpha- and beta-globin loci. ACHs are formed through extensive DNA looping to form a "hub" of regulatory

lower-altitude populations, which can be attributable to substitutions in their beta-globin gene. These substitutions are shared by speckled teal because of introgressive

transfusions. The technique used a lentiviral vector to transduce the human β-globin gene into purified blood and marrow cells obtained from the patient in June

results from a single base difference within the coding region for the β-globin section of hemoglobin, causing a single amino acid change that changes hemoglobin's

activation with a resultant rise in cyclic GMP, and the activation of gamma globin gene expression and subsequent gamma chain synthesis necessary for fetal

rate of change for TEX9 is fairly slow compared to fibrinogen and beta-globin, but not as slow as cytochrome c. TEX9 sequences that are most conserved

ISBN 9780323034104. Erythropoiesis Heme synthesis is coordinated with globin synthesis during erythropoiesis and as such does not occur in the mature

AL, Yu AL, Mathews LS, Vaughan J, et al. (1992). "Effect of activin A on globin gene expression in purified human erythroid progenitors". Blood. 79 (3):

University of California in San Francisco. His team sought to understand globin gene expression, studying both cis- and trans-acting components that regulate

Banerji J, Rusconi S, Schaffner W (December 1981). "Expression of a beta-globin gene is enhanced by remote SV40 DNA sequences". Cell. 27 (2 Pt 1): 299–308

and hemoglobin gene loci. Different regions of the gene (gamma delta beta globin) were known to be expressed at different stages of development. Consistent

of Mississippi. pp. 35–36. ISBN 9781604737578. "Presence of an African β-globin gene cluster haplotype in normal chromosomes in sicily - ResearchGate".

for post-pubertal recovery. He has also investigated abnormal patterns of globin gene expression and his work on mutations associated with the lifelong expression

met-hemoglobin (ferric hemoglobin). In such conditions, heme along with globin chains can be released from further oxidization of met-hemoglobin (ferric

paper with R. K. Saiki and H. A. Erlich, "Enzymatic Amplification of β-globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle

Banerji, J; Rusconi, S; Schaffner, W (December 1981). "Expression of a β-globin gene is enhanced by remote SV40 DNA sequences". Cell. 27 (2): 299–308. doi:10

mechanism to create a high molecular mass respiratory protein from 78 similar globin domains. Albrecht C., Kuhn K. & Streit B. (2007). "A molecular phylogeny

said to be co-dominant. Another example occurs at the locus for the beta-globin component of hemoglobin, where the three molecular phenotypes of HbA/HbA

presence of alpha-thalassemia, a genetic blood disease in which the alpha globin subunit of the hemoglobin protein is underproduced, are thought to be major

DNA-binding factor recognizes a regulatory sequence common to all chicken globin genes". Proc. Natl. Acad. Sci. U.S.A. 85 (16): 5976–80. Bibcode:1988PNAS

reference of the Nature paper. The key role of Gerard Marbaix (who prepared the globin mRNA) is apparent from the landmark paper. A vital question was the extent

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sickle cell gene in a compound heterozygous manner with other mutant beta globin genes. These disorders include sickle cell-beta thalassemia. In the case

fitness of homozygotes, the textbook example being the sickle-cell beta-globin allele, which is maintained at high frequencies in populations where malaria

Barnabas; Morris Goodman; G. William Moore (1972). "Descent of Mammalian Alpha Globin Chain Sequences Investigated by the Maximum Parsimony Method". Journal of

primates) based on two unlinked nuclear genes: IRBP intron 1 and epsilon-globin sequences". American Journal of Physical Anthropology. 100 (2): 153–79.

a 130-kb region enclosing the alpha-globin gene cluster, the alpha-locus controlling region, and two non-globin genes in human and mouse". Mammalian

April 2000). "Modulation of the Oxygen Affinity of Cobalt-Porphyrin by Globin". FEBS Letters. 472 (2–3): 221–224. doi:10.1016/S0014-5793(00)01423-X.

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disc vessels. Normal adult hemoglobin A molecule comprises two α and two β globin chains associated with a heme ring. Mutation at the 6th position of the

Retrieved 8 February 2024. Saiki RK et al. "Enzymatic Amplification of β-globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle

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the name "haemoglobin"; haem being derived from Greek meaning blood, and globin from Latin globus meaning round object (see also: carboxyhemoglobin etymology)

is bright red due to the presence of hemoglobin that contain up to 144 globin chains (each presumably including associated heme structures). These tube

Hb-Hp binding to CD163, cellular internalization of the complex leads to globin and heme metabolism, which is followed by adaptive changes in antioxidant

Schneider, M.P.C.; et al. (1995). "Evidence on primate phylogeny from ε-globin gene sequences and flanking regions". Journal of Molecular Evolution. 40

eukaryotic initiation factor 4A, a protein involved in ATP-dependent binding of globin mRNA". The Journal of Biological Chemistry. 257 (9): 5246–52. doi:10

Kilbourn AM, Bosi EJ, Ruvolo M. (2005) The population genetics of the alpha-2 globin locus of orangutans (Pongo pygmaeus) J. Mol. Evol. 60(3):400-408 v t e

Research has shown that a mutation of G—>C in the −6 position of the β-globin gene (β+45; human) disrupted the haematological and biosynthetic phenotype

PMC 1684820. PMID 3717163. Weatherall DJ (2015). "The Thalassemias: Disorders of Globin Synthesis". Williams Hematology (9e ed.). McGraw Hill Professional. p. 725

Frede U, Hentze MW, Kulozik AE (March 2002). "Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive

most common congenital anemias, arises from partial or complete lack of β-globin synthesis. Excessive iron absorption is one of the main features of β-thalassemia

transcriptional activator that binds to the tandem NF-E2/AP1 repeat of the beta-globin locus control region". Proceedings of the National Academy of Sciences of

sharks contains three major types of hemoglobin, made up of two copies of α globin combined with two copies of three very similar β subunits. These three types

analysis of an mRNP complex that mediates the high stability of human beta-globin mRNA". Molecular and Cellular Biology. 21 (17): 5879–5888. doi:10.1128/mcb

fibrosis transmembrane conductance regulator (CFTR) Beta thalassaemia (β-globin) Hurler syndrome Dravet syndrome Usher syndrome Nonsense mutations in other

Hideaki (March 2008). "Adaptive Functional Divergence Among Triplicated α-Globin Genes in Rodents". Genetics. 178 (3): 1623–1638. doi:10.1534/genetics.107

Douglas Higgs "for his seminal work on the regulation of the human alpha-globin gene cluster and the role of the ATRX protein in genetic disease" 2015 Irwin

as oxygen. Instead, it combines with the N-terminal groups on the four globin chains. However, because of allosteric effects on the hemoglobin molecule

genetic testing, if high suspicion for familial erythrocytosis Hemoglobin (globin-gene) sequencing or high-performance liquid chromatography to evaluate for

the haemoglobin synthesis; it can result in either a reduced or absent globin chain production. If beta thalassaemia major is left untreated or under

Maggioni, Marco; Fracanzani, Anna Ludovica; Fargion, Silvia (2010). "Beta-globin mutations are associated with parenchymal siderosis and fibrosis in patients

haemoglobin genes are known to be cousin genes of each other. An ancestor globin gene from an ancient vertebrate split into two genes, alpha and beta, which

mutation in the polypyrimidine tract of the second intron of the human beta-globin gene reduces in vitro splicing efficiency: evidence for an increased hnRNP

(heterogeneous nuclear ribonucleoprotein D) as a component of the alpha-globin mRNA stability complex". Mol. Cell. Biol. 17 (8): 4870–6. doi:10.1128/MCB

they exhibit biased directionality. Sometimes, such as in case of human globin genes (Papadakis and Patrinos, 1999), the gene conversion direction correlates

"Site-directed mutagenesis in DNA: Generation of point mutations in cloned β globin complementary DNA at the positions corresponding to amino acids 121 to 123"

L., Chen, H. Y., Trumbauer, M. E., and Avarbock, M. R. Translation of globin messenger RNA by the mouse ovum. Nature. 1980; 283: 499-501. Brinster, R

the α-chain subunits of adult hemoglobin. Modifications in the α and β globin genes may also indicate an increase in hemoglobin-oxygen affinity and oxygen

C.; Maxam, A. M.; Maniatis, T. (1976). "Enzymatic in vitro synthesis of globin genes". Cell. 7 (2): 279–288. doi:10.1016/0092-8674(76)90027-1. PMID 60178

A, Collins FS (October 1991). "Interaction of Sp1 with the human gamma globin promoter: binding and transactivation of normal and mutant promoters". Blood

researchers attempted to edit the HBB gene which codes for the human β-globin protein. Mutations in the HBB gene result in the disorder β-thalassaemia

Y, Eaton SA, et al. (2002). "Biophysical characterization of the alpha-globin binding protein alpha-hemoglobin stabilizing protein". J. Biol. Chem. 277

S2CID 3261779. Cocca, E (1997). "Do the hemoglobinless icefishes have globin genes?". Comp. Biochem. Physiol. A. 118 (4): 1027–1030. doi:10.1016/s0300-9629(97)00010-8

to carbon dioxide transport is that carbon dioxide directly reacts with globin protein components of hemoglobin to form carbaminohemoglobin compounds.

also called Morbus Günther; Uroporphyrinogen III Synthase deficiency) Globin synthesis defect sickle cell disease Alpha-thalassemia, e.g. HbH disease

Liebhaber SA (1995). "Identification of two KH domain proteins in the alpha-globin mRNP stability complex". EMBO J. 14 (17): 4357–64. doi:10.1002/j.1460-2075

component HbA1c contains glucose attached to the N-terminus of the beta globin chain by a ketosamine linkage, providing the rationale for measurement of

LCR-F1: a bZIP transcription factor that activates erythroid-specific, human globin gene expression". Nucleic Acids Research. 22 (12): 2383–91. doi:10.1093/nar/22

mutations. For example, mutations that cause the incorrect splicing of β-globin mRNA are responsible of some cases of β-thalassemia. Another Example is

119–26. doi:10.1042/bst0110119. PMID 6420211. Flavell, R. A. (1983). "The globin genes of rabbit and man. The eighteenth Colworth medal lecture". Biochemical

Liebhaber SA (1995). "Identification of two KH domain proteins in the alpha-globin mRNP stability complex". EMBO J. 14 (17): 4357–64. doi:10.1002/j.1460-2075

phylogeny, but also the hypothesis (first proposed in 1957) that the different globin chains within a single organism could also be traced to a common ancestral

monoxide poisoning. He currently serves as Chair of the Board of Directors of Globin Solutions, Inc., a pre-clinical stage biopharmaceutical company researching

long reiterated DNA sequences, one copy of which is next to the human beta globin gene". Nucleic Acids Research. 8 (24): 6113–6128. doi:10.1093/nar/8.24.6113

beneficial naturally occurring mutation associated with increased fetal globin". Nature Communications. 6: 7085. Bibcode:2015NatCo...6.7085W. doi:10.1038/ncomms8085

Negrisolo E, Barbato R, et al. (July 2001). "The primary structure of globin and linker chains from the chlorocruorin of the polychaete Sabella spallanzanii"

binding by a mammalian SWI/SNF complex associated with human fetal-to-adult globin gene switching". Proc. Natl. Acad. Sci. U.S.A. 96 (2): 349–54. Bibcode:1999PNAS

Vakulskas CA, Bode NM, et al. (April 2021). "Gene replacement of α-globin with β-globin restores hemoglobin balance in β-thalassemia-derived hematopoietic

M. (2000-03-17). "Erythropoiesis and unexpected expression pattern of globin genes in the salamander Hynobius retardatus". Development Genes and Evolution

specifically upon the induction of erythroid-specific genes such as beta-globin, have been mainly elusive. It is known that GATA-1 can induce EpoR expression

thalassemias that are associated with abnormalities in the production of globin, the protein component of haemoglobin. Weatherall was one of the world's

Kirby S, Walsh CE, et al. (September 2002). "Restoration of human beta-globin gene expression in murine and human IVS2-654 thalassemic erythroid cells

M., Slightom, J. L., Hess, D., and Jones, R. T. 1988. Embryonic ε and γ globin genes of a prosimian primate (Galago crassicaudatis): nucleotide and amino

In October 2019, NEB released a new RNA depletion product, the NEBNext Globin & rRNA Depletion Kit (Human/Mouse/Rat) and NEBNext rRNA Depletion Kit (Bacteria)

thalassemias that are associated with abnormalities in the production of globin, the protein component of haemoglobin. Weatherall was one of the world's

as oxygen. Instead, it combines with the N-terminal groups on the four globin chains. However, because of allosteric effects on the hemoglobin molecule

(alpha 268 Asn leads to Lys beta 2) in heterozygotes is determined by alpha-globin gene deletions". Proceedings of the National Academy of Sciences. 77 (11):

Kleihauer E (May 1991). "Thalassemia intermedia: moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC

(March 2010). "Cell to cell transfer of the chromatin-packaged human beta-globin gene cluster". Nucleic Acids Research. 38 (5): e33. doi:10.1093/nar/gkp1168

rate of change for KIAA1143 is fairly slow compared to fibrinogen and beta-globin, but not as slow as cytochrome c. The DUF4604 domain in KIAA1143 is conserved

van Lom K, von Lindern M, Grosveld F, Philipsen S (November 2010). "Fetal globin expression is regulated by Friend of Prmt1". Blood. 116 (20): 4349–52. doi:10

HbS gene defect is a mutation of a single nucleotide (A to T) of the β-globin gene replacing the amino acid glutamic acid with the less polar amino acid

Andree M. (1978). "Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation" (PDF). Proceedings of

NF-kB and RXR beta like proteins in interferon induced HLA class I and beta globin gene transcription in K562 erythroleukaemia cells". Molecular and Cellular

of the "Flying Primate" Hypothesis by Phylogenetic Evidence from the ε-globin Gene". Science. 256 (5053): 86–89. Bibcode:1992Sci...256...86B. doi:10.1126/science

based on evolutionary events (fossil records). For example, gene for alpha-globin (constituent of hemoglobin) mutates at a rate of 0.56 per base pair per

(September 1985). "Insertion of DNA sequences into the human chromosomal beta-globin locus by homologous recombination". Nature. 317 (6034): 230–234. doi:10

Felsenfeld G, Allan J (April 1994). "Nucleosome positioning on chicken and human globin gene promoters in vitro. Novel mapping techniques". Journal of Molecular

by Cetus Corporation when researchers showed that a single copy of the β-globin gene could be detected and amplified by PCR. This was achieved by diluting

role of neutral mutations in evolution. The rates of mutation in mammalian globin pseudogenes has been shown to be much higher than rates in functional genes

PMID 3754471. S2CID 44340223. —— (December 1987). "The DNA sequence of the human β-globin region is strongly biased in favor of long strings of contiguous purine

"Expression of miR-210 during erythroid differentiation and induction of gamma-globin gene expression". BMB Rep. 42 (8): 493–9. doi:10.5483/bmbrep.2009.42.8.493

Frede U, Hentze MW, Kulozik AE (March 2002). "Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive

Angius A, Cao A (January 1980). "Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in

(played by William DuVall), Black Metal musician Unta Gleeben Glabben Globben Globin (played by Mike Inez) and the hipster Stanley Eisen (played by Sean Kinney)

PMID 30827499. S2CID 73503158. Yaseen, Noor Taha; et al. (2020). "Sickle ß-globin haplotypes among patients with sickle cell anemia in Basra, Iraq: A cross-sectional

immunosuppressants (methotrexate, cyclosporine, azathioprine), IV immune-globin, plasmapheresis, and biologic treatments (such as TNF-α inhibitors). IOI

and evolution of selected primates as determined by sequences of the ε-globin locus and 5′ flanking regions". Int J Primatology. 18 (2): 261–95. doi:10

interaction with GATA-2. Krueppel like transcription factors Involved in β-globin expression and the development of erythrocytes. GATA binding factors Involved

include the causes of monogenic diseases, such as the IL2Rγ gene and the β-globin gene for gene correction and CCR5 gene for mutagenesis and disablement.

Papayannopoulou, T; Nienhuis, AW (August 1988). "Expression of the human beta-globin gene following retroviral-mediated transfer into multipotential hematopoietic

discovered that a single nucleotide mutation in the first intron of the β-globin gene causes β+-thalassemia and that DNA methylation of promoter sequences

functional screen for Krüppel-like factors that regulate the human gamma-globin gene through the CACCC promoter element". Blood Cells, Molecules & Diseases

Kanjaksha, Ghosh (February 2018). "Plasmodium falciparum malaria skews globin gene expression balance in in-vitro haematopoietic stem cell culture system:

"Clustering of RNA polymerase B molecules in the 5' moiety of the adult beta-globin gene of hen erythrocytes". Nucleic Acids Res. 9 (11): 2589–98. doi:10.1093/nar/9

(1988-10-30). "Cloning, characterization and expression of the bacterial globin gene from Vitreoscilla in Escherichia coli". Gene. 70 (2): 377–386. doi:10

initiation zone areas, associated with known proteins like the c-myc and β-globin gene. Ones with DUEs thought to act in nearly same way as yeast cells. DUE

"Site-directed mutagenesis in DNA: generation of point mutations in cloned beta globin complementary dna at the positions corresponding to amino acids 121 to 123"

Edward J Benz Jr, during which she worked on the molecular genetics of globin genes and oncogenes. High has been recognized for her distinguished contributions

geographic origins is reflected, for example, in the heterogeneous spectrum of globin mutations among Israeli Arabs (Filon et al. 1994). Israeli and Palestinian

ATRX gene causes the downregulation of gene expression, such as the alpha-globin genes. It is still unknown what causes the expression of the various characteristics

Rogaška Slatina resort, 2002 http://www.donatmg.eu/en/zgodovina-rogaska_iz_globin.php[permanent dead link] History of Donat Mg http://www.donatmg.eu/en/100let-dejstva

Guertin, M; Gough, J; Dewilde, S; Moens, L; Vanfleteren, J. R. (2005). "Three globin lineages belonging to two structural classes in genomes from the three kingdoms

beauty queen career. Real Name: Helena Globin First Appearance: Episode 5 ("The Scab Fairy") Helena Globin's name is a pun on the word hemoglobin, a

Cleveland (played by DuVall), black metal musician Unta Gleeben Glabben Globben Globin (played by bassist Mike Inez), and the hipster Stanley Eisen (played by

structure of hemoglobin or due to substitution of different amino acids in globin chains. Due to this, the red blood cells (RBC) cause a string of obstacles

zinc finger nucleases or by including certain sequences such as the beta-globin locus control region to direct the site of integration to specific chromosomal

zinc finger nucleases or by including certain sequences such as the beta-globin locus control region to direct the site of integration to specific chromosomal

5' untranslated region (UTR) and a 3' UTR derived from the human alpha globin gene (HBA1), introduction of two additional stop codons, terminated by a

Orkin SH (2008). "DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell

California Institute of Technology Thesis Expression and evolution of mammalian beta-globin genes (1988) Academic work Institutions University of Victoria

(1985-09-19). "Insertion of DNA sequences into the human chromosomal beta-globin locus by homologous recombination". Nature. 317 (6034): 230–4. Bibcode:1985Natur

of the new CUT&RUN technology. In humans, researchers looking at fetal globin gene promoters have used CUT&RUN to investigate the involvement of the protein

S; Wittig, B; Rich, A (1996). "Z-DNA forming sites within the human b-globin gene cluster". Proc. Natl. Acad. Sci. USA. 93 (2): 780–784. Bibcode:1996PNAS

quantities of mRNA that are highly enriched in RNA encoding alpha- and beta-globin (the two major protein chains of hemoglobin). The first direct experimental

has also been observed in human cell lines. The human Mash1, GAFB and β-globin loci have all been observed moving away from the nuclear periphery when

specificities of chymopa- pain and papaya Ω proteinase determined by digestion of α-globin chains. Biol. Chem. Hoppe-Seyler 370, 819–829. Johansen, J.T., Ottesen,

PMID 6272397. Costantini F, Lacy E (November 1981). "Introduction of a rabbit beta-globin gene into the mouse germ line". Nature. 294 (5836): 92–4. Bibcode:1981Natur

indicates a specific cause of death in some stillborns Loss of all four alpha-globin genes (total alpha-thalassemia) leads to severely anemic stillborn babies

five prime untranslated region derived from the sequence of human alpha globin; a signal peptide (bases 55–102) and two proline substitutions (K986P and

in the cardiovascular system and two binding sites for GATA1 which is a globin transcription factor 1 involved in erythroblast development regulation.

cells: a new human erythroleukemia cell line with spontaneous and induced globin expression". Science. 216 (4551): 1233–5. Bibcode:1982Sci...216.1233M. doi:10

Afromestizo population through the analysis of the 3' haplotype of the beta globin gene in betaA chromosomes". Blood Cells, Molecules & Diseases. 39 (2): 169–177

but it clearly had the same basic 8-helix architecture (now called the "globin fold"). Further hemoglobin crystal structures at higher resolution (PDB

family protein expressed during early erythroid differentiation modifies globin gene expression". Blood. 105 (8): 3330–3339. doi:10.1182/blood-2004-08-2988

known example in humans is sickle cell anemia, due to a mutation in beta globin where at position 6 glutamic acid (negatively charged) is exchanged with

individual gel pads. This procedure was applied to the identification of beta-globin gene mutation in the patients of beta thalassemia patients and to detection

PMID 6272397. Costantini F, Lacy E (November 1981). "Introduction of a rabbit beta-globin gene into the mouse germ line". Nature. 294 (5836): 92–4. Bibcode:1981Natur

PMID 6272397. Costantini, F.; Lacy, E. (1981). "Introduction of a rabbit β-globin gene into the mouse germ line". Nature. 294 (5836): 92–94. Bibcode:1981Natur

Tom (1978-12-01). "The isolation and characterization of linked δ- and β-globin genes from a cloned library of human DNA". Cell. 15 (4): 1157–1174. doi:10

Bernadine; Thompson, Judith (1979). "THE AMINO ACID COMPOSITION OF αT-13 OF GLOBIN FROM a PURE BRED DINGO (CANIS FAMILIARIS DINGO)". Australian Journal of

sickle cell anaemia. A description with the presence of two variations of β-globin chains, β^6Glu → Val (HbS) and β^121Glu → Lys (Hb O-Arab), patients heterozygous

José L.; Liu, Zihe; Petranovic, Dina; Nielsen, Jens (2014). "Balanced globin protein expression and heme biosynthesis improve production of human hemoglobin

discovered that phosphorylating H3S28 in the promoters of genes like c-fos and -globin controlled their activation. In addition to H3K27ac, H3S28p plays a role

action. Knockdown of ASH1L in K562 cells causes up-regulation of the ε-globin gene and down-regulation of myelomonocytic markers GPIIb and GPIIIa, and

Anfinsen (in the immunochemistry of hemoglobin) and Arthur Nienhuis (in globin gene regulation). He directed the first multicenter clinical trial using

formation in the definition of nonsense-mediated decay-competent human beta-globin mRNPs". The EMBO Journal. 20 (3): 532–40. doi:10.1093/emboj/20.3.532. PMC 133467

of anemia. Beta-thalassemia is a genetic disease mostly caused by beta-globin gene mutations. Clinical diagnosis is based on interpretation of the peripheral

Petzl-Erler, Kim Hill, A. Magdalena Hurtado, and Mara H. Hutz. The Beta-Globin Gene Cluster Distribution Revisited—Patterns in Native American Populations

Whiteley, M; Felsenfeld, G (13 August 1993). "A 5' element of the chicken beta-globin domain serves as an insulator in human erythroid cells and protects against

(1979). "The structure and transcription of four linked rabbit beta-like globin genes". Cell. 18 (4): 1285–1297. doi:10.1016/0092-8674(79)90239-3. ISSN 0092-8674

Weissman, S. M.; Snyder, M. (2002). "GATA-1 binding sites mapped in the beta-globin locus by using mammalian chIp-chip analysis - PubMed". Proceedings of the

PMID 30827499. S2CID 73503158. Yaseen, Noor Taha; et al. (January 2020). "Sickle β-globin haplotypes among patients with sickle cell anemia in Basra, Iraq: A cross-sectional

targeting H3S28 phosphorylation to promoters of genes such as c-fos and α-globin was shown to control their activation.53 Notably, phosphorylation of H3S10

PMID 30827499. Yaseen NT, Al-Mamoori HS, Hassan MK (January 2020). "Sickle β-globin haplotypes among patients with sickle cell anemia in Basra, Iraq: A cross-sectional

Silva, Wellington; Guimarães, Maria de Nazaré; Grisolia, Cesar (2010). "β-globin haplotypes in normal and hemoglobinopathic individuals from Reconcavo Baiano

PMID 30827499. S2CID 73503158. Yaseen, Noor Taha; et al. (2020). "Sickle ß-globin haplotypes among patients with sickle cell anemia in Basra, Iraq: A cross-sectional

for a homologous repeat misalignment, commonly known for causing alpha-globin locus deletions, causes the meiotic instability of a trinucleotide repeat

to form G-quadruplexes in their promoter regions include the chicken β-globin gene, human ubiquitin-ligase RFP2, and the proto-oncogenes c-kit, bcl-2

progression. Finally, the insertion of a huge 11 megabase transgene of the globin exon (lacking introns) was recognized by cells, and silenced by compaction

gene repression: Increase of endogenous murine leukemia virus-related and globin-related RNA in brain and liver of mice". Proceedings of the National Academy

Proteins Associated with Emerging Neural Systems and Precursors of Metazoan Globin Diversity by Lechauve, Christophe; Jager, Muriel; Laguerre, Laurent; Kiger

Rainer TH, Lam NY, Man CY, Chiu RW, Woo KS, Lo YM (June 2006). "Plasma beta-globin DNA as a prognostic marker in chest pain patients". Clinica Chimica Acta;

I for DNA background, or by removing abundant RNA species (rRNA, mtRNA, globin mRNA) using sequence-specific RNA depletion kits. Also CRISPR-Cas9-based

Lineage, a Parsimony Strategy Illustrated by Cladograms Constructed from Globin Sequences". Systematic Zoology. 28 (2): 132–163. doi:10.2307/2412519. JSTOR 2412519

EJ, Antico CJ, Bao G (November 2013). "CRISPR/Cas9 systems targeting β-globin and CCR5 genes have substantial off-target activity". Nucleic Acids Research

Massachusetts Institute of Technology Thesis Characterization of extraribosomal globin messenger RNA and human histone messenger RNA (1972) Academic work Institutions

administration, within the homes of Medicare beneficiaries, of intravenous immune globin (IVIG) for the treatment of primary immune deficiency diseases. 112-243

Fujita A, Uchida N, Haro-Mora JJ, Winkler T, Tisdale J (June 2016). "β-Globin-Expressing Definitive Erythroid Progenitor Cells Generated from Embryonic

particularly as it relates to eukaryotic gene expression; and regulation of globin gene expression during development; member of National Academy of Sciences

Taha; Al-Mamoori, Hind Shaker; Hassan, Mea` Kadhum (2020-04-15). "Sickle ß-globin haplotypes among patients with sickle cell anemia in Basra, Iraq: A cross-sectional

cells: a new human erythroleukemia cell line with spontaneous and induced globin expression". Science. 216 (4551): 1233–5. Bibcode:1982Sci...216.1233M. doi:10

PMID 30827499. S2CID 73503158. Yaseen, Noor Taha; et al. (2020). "Sickle ß-globin haplotypes among patients with sickle cell anemia in Basra, Iraq: A cross-sectional

Organism Lariat Consensus sequence Yeast TACTAAC Human Beta globin genes CTGAC CTAAT CTGAT CTAAC CTCAC Drosophila CTAAT Rats CTGAC Plants (C/T)T(A/G)A(T/C)

PMID 30827499. Yaseen NT, Al-Mamoori HS, Hassan MK (January 2020). "Sickle β-globin haplotypes among patients with sickle cell anemia in Basra, Iraq: A cross-sectional

PMID 30827499. S2CID 73503158. Yaseen, Noor Taha; et al. (2020). "Sickle ß-globin haplotypes among patients with sickle cell anemia in Basra, Iraq: A cross-sectional

geographic origins is reflected, for example, in the heterogeneous spectrum of globin mutations among Israeli Arabs (Filon et al. 1994). Israeli and Palestinian