Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. - Wikidata - awgldk - TriplyDB

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

http://www.wikidata.org/entity/Q54391542

about

Targeting BMP signalling in cardiovascular disease and anaemia Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis TGFβ signalling in context Recurrent Gastrointestinal Hemorrhage in Treatment with Dasatinib in a Patient Showing SMAD4 Mutation with Acute Lymphoblastic Leukemia Philadelphia Positive and Juvenile Polyposis Hereditary Hemorrhagic Telangiectasia Syndrome.ALK1 signaling inhibits angiogenesis by cooperating with the Notch pathway.Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review.Fine mapping of the hereditary haemorrhagic telangiectasia (HHT)3 locus on chromosome 5 excludes VE-Cadherin-2, Sprouty4 and other interval genes.Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1.Neurovascular manifestations in hereditary hemorrhagic telangiectasia: imaging features and genotype-phenotype correlations.A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia.HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis.SMAD4 haploinsufficiency associates with augmented colonic inflammation in select humans and mice.Endothelial signaling and the molecular basis of arteriovenous malformation.SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan BMP signaling in vascular development and disease.Early neonatal complications from pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: case report and review of the literature.Myhre syndrome.Emerging roles of BMP9 and BMP10 in hereditary hemorrhagic telangiectasia.Familial Colorectal Cancer: Understanding the Alphabet Soup TGF-β Family Signaling in Tumor Suppression and Cancer Progression.A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia.Genetic alterations in Japanese extrahepatic biliary tract cancer.Clinical and genetic challenges in a family with history of childhood polyp, aortopathy, and clinical diagnosis of hereditary hemorrhagic teleangiectasia (HHT).Combined juvenile polyposis and hereditary hemorrhagic telangiectasia Signs and genetics of rare cancer syndromes with gastroenterological features.ALK1 signaling in development and disease: new paradigms.Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia.Massive gastric polyposis associated with a germline SMAD4 gene mutation.Vascular deficiency of Smad4 causes arteriovenous malformations: a mouse model of Hereditary Hemorrhagic Telangiectasia.JP-HHT phenotype in Danish patients with SMAD4 mutations.Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations.Juvenile stroke in combined syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler's Disease, Uppsala University Hospital

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P2860

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

http://www.wikidata.org/entity/Q54391542

description

2010 nî lūn-bûn

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2010年の論文

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2010年学术文章

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2010年学术文章

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2010年学术文章

@zh-hans

2010年学术文章

@zh-my

2010年学术文章

@zh-sg

2010年學術文章

@yue

2010年學術文章

@zh

2010年學術文章

@zh-hant

name

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

@en

Overlapping spectra of SMAD4 mutations in juvenile polyposis

@nl

type

label

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

@en

Overlapping spectra of SMAD4 mutations in juvenile polyposis

@nl

prefLabel

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

@en

Overlapping spectra of SMAD4 mutations in juvenile polyposis

@nl

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American Journal of Medical Genetics

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Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

@en

P2093

Andreas Lux

http://www.w3.org/2001/XMLSchema#string

Arthur S Aylsworth

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Arupa Ganguly

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Barbara Bernhardt

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Carol Clericuzio

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Carol Gallione

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Cesare Danesino

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Charles A Williams

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Douglas A Marchuk

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J Deane Waldman

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P2860

Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers.

Generalized juvenile polyposis coli. Clinical management based on long-term observations.

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333-339

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10.1002/AJMG.A.33206

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20101697

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