Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.969
Abstract: The bone morphogenetic protein (BMP) pathway is known to play an imperative role in bone, cartilage, and cardiac tissue formation. Truncating, heterozygous variants, and deletions of one of the essential receptors in this pathway, Bone… read more here.
Keywords: variant bmpr1a; bmpr1a resulting; homozygous missense; bmpr1a ... See more keywords
Bta-miR-493 Inhibits Bovine Preadipocytes Differentiation by Targeting BMPR1A via the TGFβ/BMP and p38MAPK Signaling Pathways.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of agricultural and food chemistry"
DOI: 10.1021/acs.jafc.2c05719
Abstract: Fat deposition significantly impacts the meat yield and the meat quality of beef cattle, which is closely associated with the preadipocyte proliferation and differentiation. Bta-miR-493 is expressed differentially in the backfat of Qinchuan cattle of… read more here.
Keywords: bmpr1a; bta mir; bmp p38mapk; mir 493 ... See more keywords
Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers
Sign Up to like & getrecommendations! Published in 2020 at "Genetics in Medicine"
DOI: 10.1038/s41436-020-0826-1
Abstract: Juvenile polyposis syndrome (JPS) is a rare, autosomal-dominantly inherited cancer predisposition caused in approximately 50% of cases by pathogenic germline variants in SMAD4 and BMPR1A. We aimed to gather detailed clinical and molecular genetic information… read more here.
Keywords: literature; smad4 bmpr1a; variant; cohort ... See more keywords
A novel germline BMPR1A variant (c.72_73delGA) in a Japanese family with hereditary mixed polyposis syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Japanese Journal of Clinical Oncology"
DOI: 10.1093/jjco/hyaa059
Abstract: Abstract Hereditary mixed polyposis syndrome (HMPS) is a rare autosomal dominant disorder characterized by a mixture of typical and/or atypical juvenile polyps, adenomas and hyperplastic polyps, resulting in an increased risk of colorectal cancer. In… read more here.
Keywords: mixed polyposis; germline bmpr1a; polyposis syndrome; japanese family ... See more keywords
Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A
Sign Up to like & getrecommendations! Published in 2019 at "Clinical and Translational Gastroenterology"
DOI: 10.14309/ctg.0000000000000054
Abstract: OBJECTIVES: Loss-of-function mutations of BMPR1A cause juvenile polyposis syndrome (JPS), but large genomic deletions in BMPR1A are rare, reported in few families only, and data regarding the associated phenotype are limited. METHODS: We investigated clinical… read more here.
Keywords: large genomic; genomic deletion; polyposis syndrome; deletion ... See more keywords
Adenomatous Polyposis Phenotype in BMPR1A and SMAD4 Variant Carriers
Sign Up to like & getrecommendations! Published in 2022 at "Clinical and Translational Gastroenterology"
DOI: 10.14309/ctg.0000000000000527
Abstract: INTRODUCTION: Variants in SMAD4 or BMPR1A cause juvenile polyposis syndrome, a rare autosomal dominant condition characterized by multiple gastrointestinal hamartomatous polyps. A phenotype of attenuated adenomatous polyposis without hamartomatous polyps is rare. METHODS: We describe… read more here.
Keywords: bmpr1a; phenotype; adenomatous polyposis; polyposis phenotype ... See more keywords
Loss of Myeloid BMPR1a Alters Differentiation and Reduces Mouse Prostate Cancer Growth
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DOI: 10.3389/fonc.2020.00357
Abstract: The Bone Morphogenetic Protein (BMP) pathway is a member of the TGFβ signaling family and has complex roles in cancer. BMP signaling is rarely mutated and can be frequently overexpressed in many human cancers. The… read more here.
Keywords: bmp signaling; myeloid cells; bmpr1a; cancer ... See more keywords
Bone Morphogenetic Protein (BMP-2/BMP-7) Heterodimer and BMPR1A, BMPR2 Polymorphism in Simple Fractures among Sudanese Patients
Sign Up to like & getrecommendations! Published in 2023 at "Open Access Macedonian Journal of Medical Sciences"
DOI: 10.3889/oamjms.2023.11555
Abstract: Background: bone morphogenetic proteins are responsible for activating mesenchymal stem cells into osteocytes. This effect is signaled by serine-threonine kinase receptors called bone morphogenetic protein receptors. BMPR1A and BMPR2 polymorphisms were not reported to be… read more here.
Keywords: bmpr1a; polymorphism; bmp; bone morphogenetic ... See more keywords