Zobrazeno 1 - 10
of 750
pro vyhledávání: '"Michael P, Whyte"'
Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summar
Autor:
Michael P Whyte, Steven Mumm, Jonathan C Baker, Fan Zhang, Homer Sedighi, Shenghui Duan, Tim Cundy
Publikováno v:
JBMR Plus, Vol 7, Iss 4, Pp n/a-n/a (2023)
ABSTRACT Osteoblast Wnt/β‐catenin signaling conditions skeletal development and health. Bone formation is stimulated when on the osteoblast surface a Wnt binds to low‐density lipoprotein receptor‐related protein 5 (LRP5) or 6 (LRP6), in turn c
Externí odkaz:
https://doaj.org/article/33b95b6f29a44cfba1e91ac1b29fa69e
Autor:
Kathryn McCrystal Dahir, Margo Black, Gary S Gottesman, Erik A Imel, Steven Mumm, Cindy M Nichols, Michael P Whyte
Publikováno v:
JBMR Plus, Vol 6, Iss 12, Pp n/a-n/a (2022)
ABSTRACT Inactivating mutations of the gene coding for phosphate‐regulating endopeptidase homolog X‐linked (PHEX) cause X‐linked hypophosphatemia (XLH). A novel PHEX variant, c.*231A>G; exon 13–15 duplication, has emerged as a common cause of
Externí odkaz:
https://doaj.org/article/6ada1b7fc5a14c7ea4fcadd28a3ccbf2
This book identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluations of treatments. The book is aimed at all students of bone biology an
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:
Brandon T. Gaston, Elizabeth L. Chou, Aman B. Patel, Mark E. Lindsay, Steven Mumm, Michael P. Whyte, Abhisekh Mohapatra
Publikováno v:
Annals of Vascular Surgery - Brief Reports and Innovations, Vol 2, Iss 2, Pp 100065- (2022)
Background: Juvenile Paget's disease (JPD, OMIM #239,000) is a rare heritable disorder of the skeleton usually caused by bi-allelic loss-of-function mutation(s) of the tumor necrosis factor receptor superfamily member, 11B gene (TNFRSF11B), resulting
Externí odkaz:
https://doaj.org/article/41703b9fae96496d83c5fd3f3072e135
Autor:
Katherine U Gaynor, Irina V Grigorieva, Samantha M Mirczuk, Sian E Piret, Kreepa G Kooblall, Mark Stevenson, Karine Rizzoti, Michael R Bowl, M Andrew Nesbit, Paul T Christie, William D Fraser, Tertius Hough, Michael P Whyte, Robin Lovell-Badge, Rajesh V Thakker
Publikováno v:
Endocrine Connections, Vol 9, Iss 2, Pp 173-186 (2020)
Hypoparathyroidism is genetically heterogeneous and characterized by low plasma calcium and parathyroid hormone (PTH) concentrations. X-linked hypoparathyroidism (XLHPT) in two American families is associated with interstitial deletion- insertions in
Externí odkaz:
https://doaj.org/article/dde6581491014fbda33618deed571a84
Autor:
Michael Kpessa-Whyte
Publikováno v:
Scientific African, Vol 12, Iss , Pp e00828- (2021)
Based on the experience of advanced industrialized countries, social policies are portrayed as responses to the crises of capitalist industrialization. But this claim cannot explain the development of social policies, albeit limited in scope, in Afri
Externí odkaz:
https://doaj.org/article/41008d7b0daf455194e7b8fa2f1b4094
Autor:
Caroline M. Gorvin, Angela Rogers, Benoit Hastoy, Andrei I. Tarasov, Morten Frost, Silvia Sposini, Asuka Inoue, Michael P. Whyte, Patrik Rorsman, Aylin C. Hanyaloglu, Gerda E. Breitwieser, Rajesh V. Thakker
Publikováno v:
Cell Reports, Vol 22, Iss 4, Pp 1054-1066 (2018)
Spatial control of G-protein-coupled receptor (GPCR) signaling, which is used by cells to translate complex information into distinct downstream responses, is achieved by using plasma membrane (PM) and endocytic-derived signaling pathways. The roles
Externí odkaz:
https://doaj.org/article/a620aa50861b4760af796663dffcd895
Autor:
Erik A Imel, Francis H Glorieux, Michael P Whyte, Anthony A Portale, Craig F Munns, Ola Nilsson, Jill H Simmons, Raja Padidela, Noriyuki Namba, Hae Il Cheong, Pisit Pitukcheewanont, Etienne Sochett, Wolfgang Högler, Koji Muroya, Hiroyuki Tanaka, Gary S Gottesman, Andrew Biggin, Farzana Perwad, Angel Chen, Mary Scott Roberts, Leanne M Ward
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism.
Context In an open-label, randomized, controlled, phase 3 trial in 61 children aged 1 to 12 years with X-linked hypophosphatemia (XLH), burosumab improved rickets vs continuing conventional therapy with active vitamin D and phosphate. Objective We co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ed138d999d811d037c85061f3e08ec9c
https://doi.org/10.1210/clinem/dgad230
https://doi.org/10.1210/clinem/dgad230