Mutations in WNT1 Cause Different Forms of Bone Fragility-Reference-Cited by-同舟云学术

Mutations in WNT1 Cause Different Forms of Bone Fragility

Published:2013-04 Issue:4 Volume:92 Page:565-574
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Keupp Katharina,Beleggia Filippo,Kayserili Hülya,Barnes Aileen M.,Steiner Magdalena,Semler Oliver,Fischer Björn,Yigit Gökhan,Janda Claudia Y.,Becker Jutta,Breer Stefan,Altunoglu Umut,Grünhagen Johannes,Krawitz Peter,Hecht Jochen,Schinke Thorsten,Makareeva Elena,Lausch Ekkehart,Cankaya Tufan,Caparrós-Martín José A.,Lapunzina Pablo,Temtamy Samia,Aglan Mona,Zabel Bernhard,Eysel Peer,Koerber Friederike,Leikin Sergey,Garcia K. Christopher,Netzer Christian,Schönau Eckhard,Ruiz-Perez Victor L.,Mundlos Stefan,Amling Michael,Kornak Uwe,Marini Joan,Wollnik Bernd

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference36 articles.

1. New perspectives on osteogenesis imperfecta;Forlino;Nat Rev Endocrinol,2011

2. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans;Marini;Hum. Mutat.,2007

3. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta;Morello;Cell,2006

4. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta;Cabral;Nat. Genet.,2007

5. Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta;Christiansen;Am. J. Hum. Genet.,2010

Cited by 235 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Update on the Genetics of Osteogenesis Imperfecta;Calcified Tissue International;2024-08-11

2. Multi-omics analyses reveal aberrant differentiation trajectory with WNT1 loss-of-function in type XV osteogenesis imperfecta;Journal of Bone and Mineral Research;2024-08-10

3. A novel WNT10A variant impairs the homeostasis of alveolar bone mesenchymal stem cells;Oral Diseases;2024-06-09

4. Osteomodulin deficiency in mice causes a specific reduction of transversal cortical bone size;Journal of Bone and Mineral Research;2024-05-09

5. The evolving roles of Wnt signaling in stem cell proliferation and differentiation, the development of human diseases, and therapeutic opportunities;Genes & Diseases;2024-05