The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.
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Germline mutations in SMAD4 disrupt bone morphogenetic protein signalingJuvenile polyposis syndromeGenotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutationsSmad4-mediated TGF-beta signaling in tumorigenesis.Genetic testing for hereditary colorectal cancer.Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review.Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis.Genetic variations in the SMAD4 gene and gastric cancer susceptibilityDiscovery of SMAD4 promoters, transcription factor binding sites and deletions in juvenile polyposis patients.Upper tract juvenile polyps in juvenile polyposis patients: dysplasia and malignancy are associated with foveolar, intestinal, and pyloric differentiation.Esophageal cancer in a family with hamartomatous tumors and germline PTEN frameshift and SMAD7 missense mutations.Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23SMAD4 haploinsufficiency associates with augmented colonic inflammation in select humans and mice.Genetic testing in inherited polyposis syndromes - how and why?Familial colorectal cancer.Emerging roles of the bone morphogenetic protein pathway in cancer: potential therapeutic target for kinase inhibition.Identification of TFG (TRK-fused gene) as a putative metastatic melanoma tumor suppressor gene.Aggressive juvenile polyposis in children with chromosome 10q23 deletion.Massive gastric juvenile-type polyposis: a clinicopathological analysis of 22 cases.Familial juvenile polyposis syndrome with a novel SMAD4 germline mutation.Colonic polyposis syndromes--an experience from a tertiary centre in South India.BMPR1A mutations in juvenile polyposis affect cellular localization.Cervical artery dissection and iliac artery aneurysm in an SMAD-4 mutation carrier.Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps.The growing complexity of the intestinal polyposis syndromes.Somatic alterations in juvenile polyps from BMPR1A and SMAD4 mutation carriers.
P2860
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P2860
The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
The rate of germline mutations ...... BMPR1A in juvenile polyposis.
@en
The rate of germline mutations ...... BMPR1A in juvenile polyposis.
@nl
type
label
The rate of germline mutations ...... BMPR1A in juvenile polyposis.
@en
The rate of germline mutations ...... BMPR1A in juvenile polyposis.
@nl
prefLabel
The rate of germline mutations ...... BMPR1A in juvenile polyposis.
@en
The rate of germline mutations ...... BMPR1A in juvenile polyposis.
@nl
P2093
P1433
P1476
The rate of germline mutations ...... BMPR1A in juvenile polyposis.
@en
P2093
D Calva-Cerqueira
J Larsen-Haidle
S Chinnathambi
P2860
P356
10.1111/J.1399-0004.2008.01091.X
P577
2008-09-24T00:00:00Z