| SBLA | sarcoma, breast and brain tumors, leukemia, laryngeal and lung cancer, and adrenal cortical carcinom... |
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| VACTERL | vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal fistula and/or esoph... |
| A&A | aid and attendance; awake and aware |
| ABCDES | abnormal alignment, bones-periarticular osteoporosis, cartilage-joint space loss, deformities, margi... |
| ACFAO | American College of Foot and Ankle Orthopedics and Medicine |
| genes, bcl-2 | The B-cell leukaemia/lymphoma-2 genes, responsible for blocking apoptosis in normal cells, and associated with follicular lymphoma when overexpressed. Overexpression results from the t(14;18) translocation. The human c-bcl-2 gene is located at 18q24 on the long arm of chromosome 18. (12 Dec 1998) |
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| genes, BRCA1 | Tumour suppressor genes located on human chromosome 17q12-21. The mutation of these genes is associated with the formation of familial breast and ovarian cancer. (12 Dec 1998) |
| genes, breast cancer susceptibility | Inherited factors that predispose to breast cancer. Put otherwise, these genes make one more susceptible to the disease and so increase the risk of developing breast cancer. Two of these genes, BRCA1 and BRCA2, have been identified (and prominently publicised). Several other genes (those for the Li-Fraumeni syndrome, Cowden disease, Muir-Torre syndrome, and ataxia-telangiectasia) are also known to predispose to breast cancer. Howeverm, since all of these known breast cancer susceptibility genes together do not account for more than a minor fraction (1/5th at most) of breast cancer that clusters in families, it is clear that more breast cancer genes remain to be discovered. See related entries to: BRCA1; BRCA2; Breast cancer, familial. (12 Dec 1998) |
| genes, cdc | Genes that code for proteins that regulate the cell division cycle. These genes form a regulatory network that culminates in the onset of mitosis by activating the p34cdc2 protein (protein p34cdc2). (12 Dec 1998) |
| genes, dcc | Tumour suppressor genes located in the 18q21-qter region of human chromosome 18. The absence of these genes is associated with the formation of colourectal cancer (dcc stands for deleted in colourectal cancer). The products of these genes show significant homology to neural cell adhesion molecules and other related cell surface glycoproteins. (12 Dec 1998) |
| genes, dominant | Genes that are reflected in the phenotype both in the homozygous and the heterozygous state. (12 Dec 1998) |
| genes, env | DNA sequences that form the coding region for the viral envelope (env) proteins in retroviruses. The env genes contain a cis-acting RNA target sequence for the rev protein (= gene products, rev), termed the rev-responsive element (rre). (12 Dec 1998) |
| genes, erba | Retrovirus-associated DNA sequences (erythroblastosis virus, avian, hence erba) originally isolated from the avian erythroblastosis virus. The c-erba proto-oncogene encodes the thyroid hormone receptors (receptors, thyroid hormone). Two distinct c-erba proto-oncogenes have been identified, erba-alpha and erba-beta, each giving rise to at least two proteins. Erba-alpha is located at 17q21 on the long arm of chromosome 17. Erba-beta is located at 3p24 on the short arm of chromosome 3. The v-erba oncogene potentiates cell transformation through inhibition of spontaneous differentiation of cells already transformed by the v-erbb gene and eliminates growth requirements of transformed erythroblasts. (12 Dec 1998) |
| genes, erbb | Retrovirus-associated DNA sequences (erbb) originally isolated from, or related to, the avian erythroblastosis virus (aev). These genes code for the epidermal growth factor receptor (egfr) family of receptors which is important in the control of normal cell proliferation and in the pathogenesis of human cancer. The genes include erbb-1 (genes, erbb-1), erbb-2 (genes, erbb-2), and erbb-3, all of which show abnormalities of expression in various human neoplasms. (12 Dec 1998) |
| genes, erbb-1 | Retrovirus-associated DNA sequences (erbb) originally isolated from the avian erythroblastosis virus (aev). The oncogene v-erbb arose by insertion of viral DNA into the c-erbb-1 proto-oncogene resulting in expression of a protein lacking the amino-terminal ligand-binding domain. V-erbb is the primary transforming gene of aev and abrogates the requirements for other mitogens. The proto-oncogene c-erbb-1 codes for the protein epidermal growth factor receptor (epidermal growth factor receptor-urogastrone). Overexpression of the gene occurs in a wide range of tumours, commonly squamous carcinomas of various sites and less commonly adenocarcinomas. The human c-erbb-1 gene is located at 7p12-13 on the short arm of chromosome 7. (12 Dec 1998) |
| genes, erbb-2 | Retrovirus-associated DNA sequences (erbb) related to the c-erbb-1 gene and identified by probes from c-erbb-1 or its avian viral homologue v-erbb. The proto-oncogene erbb-2 (c-erbb-2) codes for a protein that has structural features indicative of a growth factor receptor with close similarity to the epidermal growth factor (egf) receptor. Overexpression and amplification of the gene is associated with adenocarcinomas and with poor prognosis in breast carcinomas. The human c-erbb-2 gene is located at 17p12-21 on the short arm of chromosome 17. (12 Dec 1998) |
| genes, fms | Family of retrovirus-associated DNA sequences (fms) originally isolated from the susan mcdonough strain of feline sarcoma virus (sm-fesv). The proto-oncogene fms (c-fms) codes for a protein (csf-1) that is a member of the transmembrane tyrosine kinase growth factor receptor family. The human c-fms gene is located at 5q33.3 on the long arm of chromosome 5. (12 Dec 1998) |
| genes, fos | Retrovirus-associated DNA sequences (fos) originally isolated from the finkel-biskis-jinkins (fbj-msv) and finkel-biskis-reilly (fbr-msv) murine sarcoma viruses. The proto-oncogene protein c-fos codes for a nuclear protein which is involved in growth-related transcriptional control. The insertion of c-fos into fbj-msv or fbr-msv induces osteogenic sarcomas in mice. The human c-fos gene is located at 14q21-31 on the long arm of chromosome 14. (12 Dec 1998) |
| genes, fungal | The genetic material of fungi. It includes mating type genes of saccharomyces cerevisiae. (12 Dec 1998) |
| genes, gag | DNA sequences that form the coding region for proteins associated with the viral core in retroviruses. Gag is short for group-specific antigen. (12 Dec 1998) |