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GenomicsGermline variants in the SEMA4A gene predispose to familial colorectal cancer type X
Familial colorectal cancer type X (FCCTX) is characterized by clinical features of hereditary non-polyposis colorectal cancer with a yet undefined genetic background. Here, using an integrative genomics strategy, we identify the SEMA4A p.Val78Met germline mutation in an Austrian kindred with FCCTX. ...
EGAS00001000957 | EGA
Genomicsena-DATASET-MUG-11-09-2014-07:42:30:338-15 - samples
Exome sequencing of peripheral blood from 4 individuals of a family with familial colorectal cancer type X
EGAD00001001009 | EGA
UnknownCargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3
Not available
S-JCBD-201506112 | bioimages
Genomicsena-DATASET-MUG-11-09-2014-07:45:47:901-16 - samples
Sequencing of colorectal tumors and normal tissue using Ion AmpliSeq Cancer Hotspot Panel V2
EGAD00001001010 | EGA
GenomicsDAC CTC - Plasma-DNA
Data Access Committee EGAC00001000072
EGAC00001000072 | EGA
TranscriptomicsLoss-of-function of MYO5B induces epithelial cell scattering in enterocytes
A non-functional myosin Vb motor in duodenal enterocytes results in disruption of epithelial cell polarity characterized by complete loss of microvilli and mislocalization of apical brush border proteins in the cytoplasm which finally cause a devastating disease in neonates with severe malabsorption...
ORGANISM(S): Homo sapiens 
2013-03-14 | E-GEOD-45134 | biostudies-arrayexpress
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