Výsledky vyhledávání - "Jay C Groppe"

Akademický článek

Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance.

Autor: Julia Zimmer, Sandra C Doelken, Denise Horn, Jay C Groppe, Eileen M Shore, Frederick S Kaplan, Petra Seemann

Publikováno v: PLoS ONE, Vol 7, Iss 4, p e35062 (2012)

We identified an amino acid change (p.G92E) in the Bone Morphogenetic Protein antagonist NOGGIN in a 22-month-old boy who presented with a unilateral brachydactyly type B phenotype. Brachydactyly type B is a skeletal malformation that has been associ

Externí odkaz: https://doaj.org/article/91abca186ecf4522a59b6d94ef780e28

Zobrazit plný text záznamu

Akademický článek

Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.

Publikováno v: PLoS Genetics, Vol 5, Iss 11, p e1000747 (2009)

Signaling output of bone morphogenetic proteins (BMPs) is determined by two sets of opposing interactions, one with heterotetrameric complexes of cell surface receptors, the other with secreted antagonists that act as ligand traps. We identified two

Externí odkaz: https://doaj.org/article/8d0c86fc903b433fb9ac4193b9a43512

Zobrazit plný text záznamu

Akademický článek

Polypeptide Substrate Accessibility Hypothesis: Gain-of-Function R206H Mutation Allosterically Affects Activin Receptor-like Protein Kinase Activity

Autor: Jay C. Groppe, Guorong Lu, Mary R. Tandang-Silvas, Anupama Pathi, Shruti Konda, Jingfeng Wu, Viet Q. Le, Andria L. Culbert, Eileen M. Shore, Kristi A. Wharton, Frederick S. Kaplan

Publikováno v: Biomolecules, Vol 13, Iss 7, p 1129 (2023)

Although structurally similar to type II counterparts, type I or activin receptor-like kinases (ALKs) are set apart by a metastable helix–loop–helix (HLH) element preceding the protein kinase domain that, according to a longstanding paradigm, ser

Externí odkaz: https://doaj.org/article/8d9e3eef79a94e28979b018d4bd8e4ef

Zobrazit plný text záznamu

Plný text ve formátu HTML

Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole‐Exome Sequencing in a Patient with Delayed‐Onset Fibrodysplasia Ossificans Progressiva (FOP) UsingACVR1R206H‐Specific Human Cellular and Zebrafish Models

Autor: Kelly L. Wentworth, Robert L. Lalonde, Jay C. Groppe, Niambi Brewer, Tania Moody, Steven Hansberry, Kimberly E. Taylor, Eileen M. Shore, Frederick S. Kaplan, Robert J. Pignolo, Pamela C. Yelick, Edward C. Hsiao

Publikováno v: Journal of Bone and Mineral Research. 37:2058-2076

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1c6389d4e4799aa858a6d0b41d4ee7a1
https://doi.org/10.1002/jbmr.4711

Zobrazit plný text záznamu

An ACVR1 R375P pathogenic variant in two families with mild fibrodysplasia ossificans progressiva

Autor: Mona Al Mukaddam, Robert J. Pignolo, Frederick S. Kaplan, Meiqi Xu, Jay C. Groppe, Staci Kallish, Eileen M. Shore, O. Will Towler, Kenneth C. Kalunian, Eduardo Grunvald

Publikováno v: American Journal of Medical Genetics Part A. 188:806-817

Genetic variants are vital in informing clinical phenotypes, aiding physical diagnosis, guiding genetic counseling, understanding the molecular basis of disease, and potentially stimulating drug development. Here we describe two families with an ultr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dcc53cdf14f8b0a151f9c35b7f221df1
https://doi.org/10.1002/ajmg.a.62585

Zobrazit plný text záznamu

Hypoxia-selective allosteric destabilization of activin receptor-like kinases: A potential therapeutic avenue for prophylaxis of heterotopic ossification

Autor: Alyssa C. Dawson, Jay C. Groppe, Guorong Lu, Mary Rose Tandang-Silvas, Trenton J. Dawson

Publikováno v: Bone

Heterotopic ossification (HO), the pathological extraskeletal formation of bone, can arise from blast injuries, severe burns, orthopedic procedures and gain-of-function mutations in a component of the bone morphogenetic protein (BMP) signaling pathwa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32fb0d48a048a560d55511a8c4ecdd71
https://doi.org/10.1016/j.bone.2018.03.027

Zobrazit plný text záznamu

The TβR-I Pre-Helix Extension Is Structurally Ordered in the Unbound Form and Its Flanking Prolines Are Essential for Binding

Autor: Udayar Ilangovan, Andrew P. Hinck, Tao Huang, Pardeep Mahlawat, Donald G. McEwen, Cynthia S. Hinck, Jay C. Groppe, Jorge E. Zuniga

Publikováno v: Journal of Molecular Biology. 412:601-618

Transforming growth factor β isoforms (TGF-β) are among the most recently evolved members of a signaling superfamily with more than 30 members. TGF-β play vital roles in regulating cellular growth and differentiation, and they signal through a hig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69a7ad02093ba4fb6bbe233a7683d32f
https://doi.org/10.1016/j.jmb.2011.07.046

Zobrazit plný text záznamu

Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9

Autor: Jay C. Groppe, Hitesh Kapadia, Ying Wang, Jingfeng Wu, Takuya Ogawa, Gabriele Mues, Rena N. D'Souza

Publikováno v: Human Molecular Genetics. 18:2863-2874

Mutations in the paired-domain transcription factor PAX9 are associated with non-syndromic tooth agenesis that preferentially affects posterior dentition. Of the 18 mutations identified to date, eight are phenotypically well-characterized missense mu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7c48bb184d40d678bfd7159622937a6
https://doi.org/10.1093/hmg/ddp221

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání