Documents (100) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	8589722	BRCA1 is secreted and exhibits properties of a granin. Germline mutations in BRCA1 are responsible for most cases of inherited breast and ovarian cancer. However, the function of the BRCA1 protein has	755 Bytes	2015-11-27	25	2	2025-01-16
PubMed	8589723	Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus. Women who carry a mutation in the BRCA1 gene (on chromosome 17q21), have an 80% risk of br	1.48 KB	2015-11-27	25	11	2025-01-16
PubMed	8595416	A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. Myotonic dystrophy (DM) is associated with a (CTG)n trinucleotide	1.33 KB	2015-12-05	25	5	2025-01-16
PubMed	8605116	Germline mutations in the RB1 gene in patients with hereditary retinoblastoma. We have analyzed the 27 exons and the promoter region of the RB1 gene in familial or sporadic bilateral retinoblastoma by	950 Bytes	2015-11-27	26	2	2025-01-16
PubMed	8621452	Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion. Type II complement protein C2 deficiency is characterized	1.14 KB	2015-12-05	67	5	2025-01-16
PubMed	8622978	Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease. The same heterozygous T -> C transition at nt 8567 of the von Willebrand factor	1.4 KB	2015-11-27	26	5	2025-01-16
PubMed	8625410	Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization. The Rho family of GTPases control diverse biological processes, including cell morphol	1.03 KB	2015-11-27	37	4	2025-01-16
PubMed	8636252	X-linked adrenoleukodystrophy is a frequent cause of idiopathic Addison's disease in young adult male patients. X-Linked adrenoleukodystrophy (ALD) is a genetic disease associated with demyelination o	1.55 KB	2015-12-05	24	24	2025-01-16
PubMed	8637912	Tumor suppression and apoptosis of human prostate carcinoma mediated by a genetic locus within human chromosome 10pter-q11. Prostate cancer is the second leading cause of male cancer deaths in the Uni	1.72 KB	2015-11-27	25	10	2025-01-16
PubMed	8640236	Low incidence of BRCA2 mutations in breast carcinoma and other cancers. Inherited mutant alleles of familial tumour suppressor genes predispose individuals to particular types of cancer. In addition t	1.47 KB	2015-11-27	26	21	2025-01-16