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Longer titles found: Ring chromosome 22 (view)

searching for Chromosome 22 59 found (475 total)

Tyrosine-protein kinase Yes (1,028 words) [view diff] exact match in snippet view article find links to article

on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. YES1 has been shown to interact with Janus kinase 2, CTNND1, RPL10

Ewing family of tumors (904 words) [view diff] exact match in snippet view article find links to article

of tumors shares a common translocation mutation of the EWS gene on chromosome 22 to an ETS-type gene, most commonly the FLI1 gene. EFTs are highly malignant

Neurofibromatosis (2,366 words) [view diff] exact match in snippet view article find links to article

on the NF2 tumor suppressor gene on chromosome 22. Schwannomatosis is caused by various mutations on chromosome 22. Neurofibromatosis is an autosomal dominant

TUG1 (330 words) [view diff] no match in snippet view article find links to article

TUG1 (taurine upregulated gene 1) is a long non-coding RNA expressed in the retina and in the brain. It was first identified in a screen for genes upregulated

List of diseases (C) (3,648 words) [view diff] exact match in snippet view article

disomy of Chromosome 22 ring Chromosome 22 trisomy mosaic Chromosome 22, microdeletion 22 q11 Chromosome 22, monosome mosaic Chromosome 22, trisomy q11

Intraneural perineurioma (362 words) [view diff] exact match in snippet view article find links to article

entities. Despite harboring molecular abnormalities of the long arm of chromosome 22, intraneural perineurioma has not been associated with neurofibromatosis

CRELD2 (2,392 words) [view diff] exact match in snippet view article find links to article

Cysteine-rich with EGF-like domain protein 2 is a protein that in humans is encoded by the CRELD2 gene found on chromosome 22q13. It is a known homolog

TXN2 (1,187 words) [view diff] exact match in snippet view article find links to article

thioredoxin-2 is a protein that in humans is encoded by the TXN2 gene on chromosome 22. This nuclear gene encodes a mitochondrial member of the thioredoxin

Vestibular schwannoma (6,764 words) [view diff] exact match in snippet view article find links to article

sometimes a mutation in the tumor suppressor gene, NF2, located on chromosome 22, results in abnormal production of the cell protein named Merlin, and

Raji cell (535 words) [view diff] exact match in snippet view article find links to article

contrast to the usual concordance between a translocation involving chromosome 22 and lambda chain synthesis. Both kappa genes and one lambda gene are

ZNF384 (636 words) [view diff] exact match in snippet view article find links to article

rearrangements of this gene with the Ewing's sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on chromosome 17, or with the TCF3 (E2A) gene

Fosmid (980 words) [view diff] exact match in snippet view article find links to article

Jong P, Simon MI (October 1995). "Construction and utility of a human chromosome 22-specific Fosmid library". Genetic Analysis: Biomolecular Engineering

Oncogene (3,182 words) [view diff] exact match in snippet view article find links to article

Hungerford, and it is a fusion of parts of DNA from chromosome 22 and chromosome 9. The broken end of chromosome 22 contains the "BCR" gene, which fuses with a

FBXW4 (866 words) [view diff] exact match in snippet view article find links to article

this locus has been mapped to one of the introns of the BCR gene on chromosome 22. GRCh38: Ensembl release 89: ENSG00000107829 – Ensembl, May 2017 GRCm38:

Chronic myelogenous leukemia (3,797 words) [view diff] exact match in snippet view article find links to article

As a result, part of the BCR ("breakpoint cluster region") gene from chromosome 22 is fused with the ABL gene on chromosome 9. This abnormal "fusion" gene

NFIA (851 words) [view diff] exact match in snippet view article find links to article

Ho PS (2005). "Distributions of Z-DNA and nuclear factor I in human chromosome 22: a model for coupled transcriptional regulation". Nucleic Acids Research

Bay (horse) (2,507 words) [view diff] exact match in snippet view article

investigation. A genome wide association study identified a region of equine chromosome 22 that appears to correlate with the extent of black pigment on bay horses

CEDNIK syndrome (564 words) [view diff] exact match in snippet view article find links to article

lipids and proteases. The abnormal gene of CEDNIK disease was mapped on chromosome 22 by Sprecher E et al. Tendon reflexes are usually absent. Nerve conduction

ATF1 (1,376 words) [view diff] exact match in snippet view article find links to article

transformation. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in angiomatoid

Computational biology (3,782 words) [view diff] exact match in snippet view article find links to article

Project in the context of genetics since 1865. Starting in 1990, by 1999, chromosome 22 became the first human chromosome to be completely sequenced.

RHEB (2,661 words) [view diff] exact match in snippet view article find links to article

Three pseudogenes have been mapped, two on chromosome 10 and one on chromosome 22. RHEB is vital in regulation of growth and cell cycle progression due

Sodium/glucose cotransporter 1 (1,986 words) [view diff] exact match in snippet view article find links to article

AR, Collins JE, et al. (December 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. Bibcode:1999Natur.402..489D. doi:10.1038/990031

Mesoblastic nephroma (2,202 words) [view diff] exact match in snippet view article find links to article

of heterozygosity, single nucleotide polymorphism, and deletions) in chromosome 22. Clear cell sarcoma of the kidney, which is responsible for 5-10% of

V(D)J recombination (2,860 words) [view diff] exact match in snippet view article

immunoglobulin light chain. The immunoglobulin lambda (λ) locus (IGL@) on chromosome 22, containing the gene segments for another type (λ) of immunoglobulin

Granulocyte-macrophage colony-stimulating factor receptor (2,780 words) [view diff] exact match in snippet view article find links to article

shared with other cytokine receptors IL-3 and IL-5. Its location is on chromosome 22. Surrounding sequences provide binding sites for several regulatory

APOBEC3G (2,959 words) [view diff] exact match in snippet view article find links to article

by Jarmuz et al. as a member of family of proteins APOBEC3A to 3G on chromosome 22 in 2002 and later also as a cellular factor able to restrict replication

Apolipoprotein L (182 words) [view diff] exact match in snippet view article find links to article

family located in a high-susceptibility locus for schizophrenia on chromosome 22". Proc. Natl. Acad. Sci. U.S.A. 99 (7): 4680–4685. Bibcode:2002PNAS

Tyrosine kinase (5,251 words) [view diff] exact match in snippet view article find links to article

trade places. The ABL gene from chromosome 9 joins to the BCR gene on chromosome 22, to form the BCR-ABL fusion gene. Tyrosine kinase activity is crucial

ABL (gene) (3,496 words) [view diff] exact match in snippet view article

being translocated within the BCR (breakpoint cluster region) gene on chromosome 22. This new fusion gene, BCR-ABL, encodes an unregulated, cytoplasm-targeted

ZNF71 (398 words) [view diff] exact match in snippet view article find links to article

zinc finger motifs mapping to short and long arms of human acrocentric chromosome 22 (p and q11.2)". Genomics. 13 (3): 641–8. doi:10.1016/0888-7543(92)90135-F

Mesothelioma (10,697 words) [view diff] exact match in snippet view article find links to article

induce complex abnormalities. The most common abnormality is monosomy of chromosome 22. Other frequent abnormalities include structural rearrangement of 1p

Personalized medicine (9,261 words) [view diff] exact match in snippet view article find links to article

(the product of a reciprocal translocation between chromosome 9 and chromosome 22) is present in >95% of cases and produces hyperactivated abl-driven

SIAH1 (1,418 words) [view diff] exact match in snippet view article find links to article

"An anthropoid-specific locus of orphan C to U RNA-editing enzymes on chromosome 22". Genomics. 79 (3): 285–96. doi:10.1006/geno.2002.6718. PMID 11863358

Connectomics (7,612 words) [view diff] exact match in snippet view article find links to article

brain disorders, one study manipulated mice with a deletion of 22q11.2 (chromosome 22, a likely known genetic risk factor that leads to schizophrenia). The

Schwannomatosis (1,606 words) [view diff] exact match in snippet view article find links to article

has been reported in patients with schwannomatosis. It is located on chromosome 22 a short distance from the NF2 gene. However, molecular analysis of the

Gamma-glutamyltransferase 7 (368 words) [view diff] exact match in snippet view article find links to article

(August 1993). "Mapping of human gamma-glutamyl transpeptidase genes on chromosome 22 and other human autosomes". Genomics. 17 (2): 299–305. doi:10.1006/geno

James F. Gusella (853 words) [view diff] exact match in snippet view article find links to article

linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22". Nature. 329 (6136): 246–248. doi:10.1038/329246a0. Tanzi, R. E.; Gusella

Tetralogy of Fallot (8,320 words) [view diff] exact match in snippet view article find links to article

mutations or deletions. Gene deletions associated with TOF include chromosome 22 deletion as well as DiGeorge syndrome. Specific genes associations with

GLB1 (1,882 words) [view diff] exact match in snippet view article find links to article

beta-galactosidase on human chromosome 3 and for its protective protein on human chromosome 22". Human Genetics. 69 (4): 340–4. doi:10.1007/BF00291653. PMID 3921454

Exosome component 2 (1,045 words) [view diff] exact match in snippet view article find links to article

chromosomal breakpoints are clustered within a limited region, bcr, on chromosome 22". Cell. 36 (1): 93–9. doi:10.1016/0092-8674(84)90077-1. PMID 6319012

Childhood leukemia (4,289 words) [view diff] exact match in snippet view article find links to article

patients with CML. Part of chromosome 9 breaks off and attaches itself to chromosome 22, facilitating exchange of genetic material between chromosomes 9 and

Liposarcoma (8,658 words) [view diff] exact match in snippet view article find links to article

results from a translocation of the EWSR1 gene located at band 12.2 on chromosome 22's q arm with the DDIT2 gene. The fusion protein product of the EWSR1-DDIT3

SHANK1 (1,948 words) [view diff] exact match in snippet view article find links to article

in humans, while SHANK2 is located on chromosome 11, and SHANK3 on chromosome 22. The locus of SHANK1, in particular, is less studied in relation to

Comparative genomic hybridization (5,284 words) [view diff] exact match in snippet view article find links to article

March 2006). "High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays". Proc Natl Acad Sci

Glycoprotein Ib-IX-V complex (1,648 words) [view diff] exact match in snippet view article find links to article

chromosome 17 specifically 17p12, GPIbβ is the product of a gene on chromosome 22 specifically 22q11.2, while GPV and GPIX are products of genes found

EWS/FLI (805 words) [view diff] exact match in snippet view article find links to article

closely related family member (e.g. ERG for FLI1). EWSR1 is a gene on chromosome 22 whose mRNA is translated into the protein Ewing sarcoma breakpoint region

Serum free light-chain measurement (3,338 words) [view diff] exact match in snippet view article find links to article

(chromosome 2), five Jκ gene segments and a single Cκ gene. Lambda molecules (chromosome 22) are constructed from about 30 Vλ gene segments and four pairs of functional

Mixed-phenotype acute leukemia (1,045 words) [view diff] exact match in snippet view article find links to article

former case, there is reciprocal translocation t(9;22)(q34;q11) in chromosome 22, and is known as Philadelphia chromosome. This chromosome portion contains

Phakomatosis (7,006 words) [view diff] exact match in snippet view article find links to article

35,000-40,000 people. It is caused by mutations in the NF2 gene on chromosome 22 which has a high penetrance though most patients do not present with

Syndecan-4 (2,088 words) [view diff] exact match in snippet view article find links to article

It is found on chromosome 20, while a pseudogene has been found on chromosome 22. Syndecan-4 is one of the four vertebrate syndecans and has a molecular

APOBEC1 (2,785 words) [view diff] exact match in snippet view article find links to article

"An anthropoid-specific locus of orphan C to U RNA-editing enzymes on chromosome 22". Genomics. 79 (3): 285–96. doi:10.1006/geno.2002.6718. PMID 11863358

Genetics of infertility (1,468 words) [view diff] exact match in snippet view article find links to article

otherwise uncharacterized infertility; and d) band 11 on the short arm of chromosome 22 notated as (22)q11)(this sSMC is associated with repeated abortions)

Abr, rhogef and gtpase activating protein (556 words) [view diff] exact match in snippet view article find links to article

shares homology with the Breakpoint Cluster Region (BCR) gene located on chromosome 22 and has shown to share similar protein functions. Additionally, the

Deborah F. Kelly (648 words) [view diff] exact match in snippet view article find links to article

W (1 September 1992). "Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus". Journal of Medical Genetics

Michael Menaker (2,630 words) [view diff] exact match in snippet view article find links to article

trait of interest. The genetic markers for the tau mutants mapped to chromosome 22. The region of conserved synteny was the gene casein kinase I epsilon

Virtual karyotype (7,333 words) [view diff] exact match in snippet view article find links to article

from a single cell arranged from largest (chromosome 1) to smallest (chromosome 22), with the sex chromosomes (X and Y) shown last. Historically, karyotypes

Clonal hypereosinophilia (5,760 words) [view diff] exact match in snippet view article find links to article

and CDC42 but its normal function is unclear. BCR is located on human chromosome 22 at position q11.23. Translocations between it and JAK2 create the t(9;22)(p24;q11)

Wladimir Wertelecki (3,592 words) [view diff] exact match in snippet view article find links to article

Book Medical Publishers, Inc. pp. 1498-1499 (1990). Wertelecki, W.: Chromosome 22. Birth Defects Encyclopedia, 3rd Edition, Buyse, M.L., Editor. Blackwell/Year

Martin R. Ralph (2,466 words) [view diff] exact match in snippet view article find links to article

wild-type hamsters. They localized the area of genetic differences to chromosome 22 in the region encoding the casein kinase 1 epsilon (CK1ε) gene. They