Condition: Juvenile polyposis syndrome
rs1060503408 in
BMPR1A gene and
Juvenile polyposis syndrome
PMID 11536076 2001 Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.
PMID 12417513 2002 Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.
PMID 11381269 2001 Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.
PMID 23399955 2013 Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
PMID 21872883 2011 SP1 regulates the transcription of BMPR1A.
PMID 20843829 2010 Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis.
PMID 22067610 2012 BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome.
PMID 15235019 2004 The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.
PMID 12630959 2003 Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation.
PMID 12136244 2002 Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.
PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
PMID 25645574 2015 ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
PMID 18823382 2009 The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.
PMID 19438883 2010 Hereditary mixed polyposis syndrome due to a BMPR1A mutation.
PMID 16436638 2006 Mutation screening in juvenile polyposis syndrome.
PMID 16525031 2006 Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function.
PMID 23433720 2013 BMPR1A mutations in juvenile polyposis affect cellular localization.
PMID 8397373 1993 Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity.
rs1060500740 in
SMAD4 gene and
Juvenile polyposis syndrome
PMID 16436638 2006 Mutation screening in juvenile polyposis syndrome.
PMID 21572342 2012 Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia.
PMID 18178612 2008 Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.
PMID 9811934 1998 Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.
PMID 12417513 2002 Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.
PMID 16152648 2005 Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis.
PMID 22810475 2012 The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome.
PMID 19135894 2009 FAM/USP9x, a deubiquitinating enzyme essential for TGFbeta signaling, controls Smad4 monoubiquitination.
PMID 12821112 2003 Role of Smad4 (DPC4) inactivation in human cancer.
PMID 15031030 2004 A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
PMID 16287957 2005 Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.
PMID 22243968 2012 A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
PMID 9389648 1997 Dual role of the Smad4/DPC4 tumor suppressor in TGFbeta-inducible transcriptional complexes.
PMID 27302097 2016 Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
PMID 22158539 2011 Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
PMID 22683461 2012 Retinal involvement in two unrelated patients with Myhre syndrome.
PMID 24398790 2014 SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.
PMID 26636501 2016 Severe constipation in a patient with Myhre syndrome: a case report.
PMID 22585601 2012 Mutations of SMAD4 account for both LAPS and Myhre syndromes.
PMID 17362581 2007 Development of a denaturing high-performance liquid chromatography screening method for SMAD4 in juvenile polyposis syndrome.
PMID 17873119 2007 High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.
PMID 16613914 2006 SMAD4 mutations found in unselected HHT patients.
PMID 20101697 2010 Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
PMID 15014009 2004 Missense mutations of MADH4: characterization of the mutational hot spot and functional consequences in human tumors.
PMID 10764709 2000 Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.
PMID 10797267 2000 Germline mutations of the dpc4 gene in Korean juvenile polyposis patients.
PMID 27595937 2016 Smad4 suppresses the tumorigenesis and aggressiveness of neuroblastoma through repressing the expression of heparanase.
PMID 24424121 2014 Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
PMID 24715504 2014 Novel SMAD4 mutation causing Myhre syndrome.
PMID 18355998 2008 Gastric involvement in juvenile polyposis associated with germline SMAD4 mutations: an entity characterized by a mixed hypertrophic and polypoid gastropathy.
PMID 23399955 2013 Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
PMID 14526373 2003 From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.
PMID 15235019 2004 The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.
PMID 18823382 2009 The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.
PMID 11583957 2001 Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers.
PMID 22316667 2012 Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling.
PMID 9214508 1997 A structural basis for mutational inactivation of the tumour suppressor Smad4.
PMID 23239472 2013 Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.
PMID 9582123 1998 Mutations in the SMAD4/DPC4 gene in juvenile polyposis.
PMID 22748914 2012 A unifying working hypothesis for juvenile polyposis syndrome and Ménétrier's disease: specific localization or concomitant occurrence of a separate entity?
PMID 28944238 2017 Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
PMID 27375208 2016 A SMAD4 mutation indicative of juvenile polyposis syndrome in a family previously diagnosed with Menetrier's disease.
PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.