Human fetal brain DYRK2 (GenBank Y13493) cDNAs encode 2 isoforms: a deduced 528-amino acid protein and a protein containing 73 additional amino acids at the N terminus.
The DYRK2 proteins contain a canonical kinase domain located between a large N-terminal region and a short C-terminal extension, and features specific to DYRK-related kinases.
DYRK2 shares 46% identity with DYRK1 in the catalytic domain, but lacks the striking sequence motifs identified in DYRK1.
The DYRK2 and DYRK3 (...)
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DYRK2
30 September 2008 -
SOD1
23 September 2003cytosolic Cu/Zn superoxide dismutase
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DYRK1A
25 April 2008DYRK1A belongs to the dual-specificity tyrosine phosphorylation-regulated kinase (DYRKs) family, which is highly conserved throughout evolution.
Given its localization in both the Down syndrome critical region and in the minimal region for partial monosomy 21, the gene has been studied intensively in animals and in humans.
DYRK1A has been proposed to be involved in the neurodevelopmental alterations associated with these syndromes.
Pathology
truncating mutations of DYRK1A in (...) -
MSH6
29 September 2003mismatch repair gene WKP
Definition : MSH6 or mutS homolog 6 is a gene that codes for DNA mismatch repair protein Msh6 in the budding yeast Saccharomyces cerevisiae. It is the homologue of the human "G/T binding protein," (GTBP) also called p160 or hMSH6 (human MSH6). The MSH6 protein is a member of the Mutator S (MutS) family of proteins that are involved in DNA damage repair.
Defects in hMSH6 are associated with atypical hereditary nonpolyposis colorectal cancer not fulfilling the (...) -
CEA
5 December 2005carcinoembryonal antigen
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SOX10
9 June 2003Location: 22q13. SRY-BOX 10, SRY-RELATED HMG-BOX GENE 10; SRY-related HMG-box 10 (SOX10) protein PO
Definition: SOX10 is a transcription factor known to be crucial in the specification of the neural crest and maintenance of Schwann cells and melanocytes. It is expressed in nuclei of melanocytes and breast myoepithelial cells .
Images
SOX10 in melanoma https://twitter.com/LisaRooperMD/status/968862378799632385
SOX-10 NEGATIVE in basal cell carcinoma / BCC. The few positive cells (...) -
SHANK3
13 April 2010SH3 and multiple ankyrin repeat domains 3
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MSH2
29 September 2003Mismatch repair gene
Tumor predisposition
earlys onset brain tumor
lymphoma
References
Chan TL, Yuen ST, Kong CK, Chan YW, Chan AS, Ng WF, Tsui WY, Lo MW, Tam WY, Li VS, Leung SY. Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer. Nat Genet. 2006 Oct;38(10):1178-83. PMID: #16951683# -
MLH1
29 September 2003mismatch repair gene
MLH is homologous to the E. coli MutL gene and is involved in DNA mismatch repair. Mutations in the MLH1 gene result in hereditary nonpolyposis colorectal cancer-2 (HNPCC2) (MIM.609310).
Pathology
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer predisposition syndrome caused by inherited germ line mutations in DNA mismatch repair genes, predominantly MSH2 and MLH1.
MLH1 loss of expression (...) -
PSMA
8 February 2012Prostate specific membrane antigen
Although it is not a secretory protein, PSMA is a membrane-bound glycoprotein with high specificity for benign or malignant prostatic epithelial cells.
This is a novel prognostic marker that is present in the serum of healthy men, according to studies with monoclonal antibody 7E11.C5.
An elevated concentration is associated with the presence of prostate cancer.
PSMA levels correlate best with advanced stage, or with a hormonerefractory state.
However, (...)
