Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Margaret Huskey"'
Autor:
Serap Turan, Steven Mumm, Ceren Alavanda, Betul Sare Kaygusuz, Busra Gurpinar Tosun, Ahmet Arman, Margaret Huskey, Tulay Guran, Shenghui Duan, Abdullah Bereket, Michael P. Whyte
Publikováno v:
JBMR Plus, Vol 6, Iss 8, Pp n/a-n/a (2022)
ABSTRACT Dysosteosclerosis (DSS), the term coined in 1968 for ultrarare dysplasia of the skeleton featuring platyspondyly with focal appendicular osteosclerosis, has become generic by encompassing the genetic heterogeneity recently reported for this
Externí odkaz:
https://doaj.org/article/8154fb917ffb49d3850c595ac9649403
Autor:
Gary S. Gottesman, Margaret Huskey, Shenghui Duan, James Aronson, William H. McAlister, Karen L. Clements, Steven Mumm, Michael P. Whyte, Vinieth N. Bijanki, Horacio Plotkin, Marina Stolina, Robert S. Weinstein, Deborah Wenkert, Katherine L Madson
Publikováno v:
Bone. 145
In 2003, we briefly reported the remarkable osteopathy of a 12-year-old boy who at age two months began fracturing his limbs with subsequent hyperplastic callus formation and expansion and fusion of appendicular bones. By age ten years he had coalesc
Autor:
Christopher M. McAndrew, Zhou Yu, Steven Mumm, Kathryn Diemer, Michael J. Gardner, Gabe Haller, Fei Wan, Melissa Sum, Yangjin Bae, Lauren E. Surface, Niki Song, Shenghui Duan, William M Ricci, Thijn R. Brummelkamp, Timothy R. Peterson, Noopur Raje, Margaret Huskey, Daniel A. Haber, Kristen M. Shannon, Sandeep Kumar, Christina L. Costantino, Jinmei Li, Jan E. Carette, Brendan Lee, Mahshid Mohseni, Jiwoong Park, Abbhirami Rajagopal, Damon T. Burrow, Malini Varadarajan, Kıvanç Birsoy, Jonathan C. Baker, Thomas B. Dodson, Charles Gu, Vinieth N. Bijanki, Cheng Lyu, Christina A. Gurnett, David M. Sabatini, Roberto Civitelli
Publikováno v:
PMC
Nitrogen-containing bisphosphonates (N-BPs), such as alendronate, are the most widely prescribed medications for diseases involving bone, with nearly 200 million prescriptions written annually. Recently, widespread use of N-BPs has been challenged du
Autor:
Beatriz Francesca Ramirez, Pamela S Smith, Fan Zhang, Deborah Wenkert, Valerie A. Wollberg, Gary S. Gottesman, Margaret Huskey, Fiona J. Cook, Steven Mumm, Michael P. Whyte
Publikováno v:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchReferences. 35(5)
X-linked hypophosphatemia (XLH), the most prevalent heritable renal phosphate (Pi) wasting disorder, is caused by deactivating mutations of PHEX. Consequently, circulating phosphatonin FGF23 becomes elevated and hypophosphatemia in affected children
Autor:
Steven Mumm, Fan Zhang, Michael P. Whyte, Margaret Huskey, Vinieth N. Bijanki, Shenghui Duan, William H. McAlister, Gary S. Gottesman, Kathryn Dahir, Angela Nenninger, Elizabeth L. Lin
Publikováno v:
Bone. 127
LRP5 encodes low-density lipoprotein receptor-related protein 5 (LRP5). When LRP5 with a Frizzled receptor join on the surface of an osteoblast and bind a member of the Wnt family of ligands, canonical Wnt/β-catenin signaling occurs and increases bo
Autor:
Michael P. Whyte, Vinieth N. Bijanki, Deborah J. Veis, Shenghui Duan, Margaret Huskey, William H. McAlister, Suhas Alur, S. Deepak Amalnath, Marc D. McKee, Steven Mumm
Publikováno v:
Bone
The SIBLINGs are a subfamily of the secreted calcium-binding phosphoproteins and comprise five small integrin-binding ligand N-linked glycoproteins [dentin matrix protein-1 (DMP1), secreted phosphoprotein-1 (SPP1) also called osteopontin (OPN), integ
Autor:
Margaret Huskey, Radhakrishna Pedapati, Vinieth N. Bijanki, Steven Mumm, Michael P. Whyte, Vivekanandan Muthupillai, Shenghui Duan, William H. McAlister, S. Deepak Amalnath
Publikováno v:
Bone. 116
Sclerosteosis (SOST) refers to two extremely rare yet similar skeletal dysplasias featuring a diffusely radiodense skeleton together with congenital syndactyly. SOST1 is transmitted as an autosomal recessive (AR) trait and to date caused by ten homoz
Autor:
Steven Mumm, Michael P. Whyte, Margaret Huskey, William H. McAlister, Fan Zhang, Gary S. Gottesman, Valerie Wollberg, Adela Cajic, Katherine L Madson, Deborah Wenkert
Publikováno v:
Journal of Bone and Mineral Research. 30:137-143
Heritable forms of hypophosphatemic rickets (HR) include X-linked dominant (XLH), autosomal recessive, and autosomal dominant HR (from deactivating mutations in PHEX, DMP1 or ENPP1, and activating mutations in FGF23, respectively). Over 30 years, we
Autor:
Katherine L Madson, Shenghui Duan, Gary S. Gottesman, Angela Nenninger, Steven Mumm, Deborah Wenkert, Margaret Huskey, Michael P. Whyte, William H. McAlister, Ronald M. Laxer
Publikováno v:
American Journal of Medical Genetics Part A. 164:2287-2293
Multicentric carpotarsal osteolysis syndrome (MCTO), an autosomal dominant disorder that often presents sporadically, features carpal-tarsal lysis frequently followed by nephropathy and renal failure. In 2012, mutations in the single-exon gene MAFB w
Autor:
Steven Mumm, Michael P. Whyte, Angie R Nenninger, Margaret Huskey, William H. McAlister, Xiafang Zhang, Deborah Wenkert, Deborah V. Novack
Publikováno v:
Journal of Bone and Mineral Research. 25:2527-2539
Dysosteosclerosis (DSS), an extremely rare dense bone disease, features short stature and fractures and sometimes optic atrophy, cranial nerve palsy, developmental delay, and failure of tooth eruption in infancy or early childhood consistent with ost