نتایج جستجو برای: bmpr1b

تعداد نتایج: 166  

Journal: :Journal of medical genetics 2006
K W Kjaer H Eiberg L Hansen C B van der Hagen K Rosendahl N Tommerup S Mundlos

BACKGROUND Brachydactyly type A2 (OMIM 112600) is characterised by hypoplasia/aplasia of the second middle phalanx of the index finger and sometimes the little finger. BDA2 was first described by Mohr and Wriedt in a large Danish/Norwegian kindred and mutations in BMPR1B were recently demonstrated in two affected families. METHODS We found and reviewed Mohr and Wriedt's original unpublished a...

2017
Michael P Heaton Timothy P L Smith Bradley A Freking Aspen M Workman Gary L Bennett Jacky K Carnahan Theodore S Kalbfleisch

Background:  Access to sheep genome sequences significantly improves the chances of identifying genes that may influence the health, welfare, and productivity of these animals.   Methods:  A public, searchable DNA sequence resource for U.S. sheep was created with whole genome sequence (WGS) of 96 rams.  The animals shared minimal pedigree relationships and represent nine popular U.S. breeds and...

Journal: :Mechanisms of Development 2005
Youngshin Lim Ginam Cho Jeremy Minarcik Jeffrey Golden

The diencephalon is the caudal part of the forebrain and is organized into easily identifiable clusters of neurons called nuclei. Neurons in different nuclei project to discrete brain regions. Thus precise organization of the nuclei during forebrain development is necessary to build accurate neural circuits. How diencephalic development is regulated is poorly understood. BMP signaling participa...

Journal: :Hearing research 2010
Konstantina M Stankovic Osamu Adachi Kunikazu Tsuji Arthur G Kristiansen Joe C Adams Vicki Rosen Michael J McKenna

Our long term goal is to understand the molecular pathology of otosclerosis and to develop better forms of therapy. Toward this goal, the current study focused on characterizing the molecular factors responsible for the unique biological features of the otic capsule: its minimal rate of remodeling, and lack of healing capacity when fractured. We compared expression levels of 62 genes involved i...

Journal: :The Journal of clinical investigation 2005
Petra Seemann Raphaela Schwappacher Klaus W Kjaer Deborah Krakow Katarina Lehmann Katherine Dawson Sigmar Stricker Jens Pohl Frank Plöger Eike Staub Joachim Nickel Walter Sebald Petra Knaus Stefan Mundlos

Here we describe 2 mutations in growth and differentiation factor 5 (GDF5) that alter receptor-binding affinities. They cause brachydactyly type A2 (L441P) and symphalangism (R438L), conditions previously associated with mutations in the GDF5 receptor bone morphogenetic protein receptor type 1b (BMPR1B) and the BMP antagonist NOGGIN, respectively. We expressed the mutant proteins in limb bud mi...

Journal: :British Journal of Surgery 2021

Abstract Introduction Role of Bone morphogenetic protein 8A (BMP8A) and BMP receptors (BMPRs) in the tumourigenesis progression breast cancer remains elusive. Present study aims to investigate expression BMP8A related BMPRs their clinical implication. Method Expression was analysed using RNA sequencing data TCGA cohort. Findings were further validated a meta gene array dataset (E-MDTA6703, n = ...

2013
Ling Wu Carolina Bluguermann Levon Kyupelyan Brooke Latour Stephanie Gonzalez Saumya Shah Zoran Galic Sundi Ge Yuhua Zhu Frank A. Petrigliano Ali Nsair Santiago G. Miriuka Xinmin Li Karen M. Lyons Gay M. Crooks David R. McAllister Ben Van Handel John S. Adams Denis Evseenko

Joint injury and osteoarthritis affect millions of people worldwide, but attempts to generate articular cartilage using adult stem/progenitor cells have been unsuccessful. We hypothesized that recapitulation of the human developmental chondrogenic program using pluripotent stem cells (PSCs) may represent a superior approach for cartilage restoration. Using laser-capture microdissection followed...

Journal: :Development 2007
Marie Fernandes Grigoriy Gutin Heather Alcorn Susan K McConnell Jean M Hébert

Holoprosencephaly (HPE) is a devastating forebrain abnormality with a range of morphological defects characterized by loss of midline tissue. In the telencephalon, the embryonic precursor of the cerebral hemispheres, specialized cell types form a midline that separates the hemispheres. In the present study, deletion of the BMP receptor genes, Bmpr1b and Bmpr1a, in the mouse telencephalon result...

2016
Marion Chapellier Véronique Maguer-Satta

Chronic exposure of epithelial cells to high levels of bone morphogenetic protein 2 (BMP2) has recently been demonstrated to initiate stem cell transformation toward a luminal tumor-like phenotype through a BMP2-BMPR1B-dependent mechanism. Carcinogen-driven deregulation of the stem cell niche could therefore represent a driving force to promote transformation and dictate the ultimate breast tum...

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