Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family-Reference-Cited by-同舟云学术

Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family

Published:2013-06-29 Issue:11 Volume:132 Page:1253-1264
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Farooq Muhammad,Nakai Hiroyuki,Fujimoto Atsushi,Fujikawa Hiroki,Kjaer Klaus Wilbrandt,Baig Shahid Mahmood,Shimomura Yutaka

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-013-1330-3.pdf

Reference50 articles.

1. Arnold K, Bordoli L, Kopp J, Schwede T (2006) The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling. Bioinformatics 22:195–201

2. Asai-Coakwell M, French CR, Ye M, Garcha K, Bigot K, Perera AG, Staehling-Hampton K, Mema SC, Chanda B, Mushegian A, Bamforth S, Doschak MR, Li G, Dobbs MB, Giampietro PF, Brooks BP, Vijayalakshmi P, Sauve Y, Abitbol M, Sundaresan P, van Heyningen V, Pourquie O, Underhill TM, Waskiewicz AJ, Lehmann OJ (2009) Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. Hum Mol Genet 18:1110–1121

3. Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK (2008) Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet 82:304–319

4. Bell J (1951) On hereditary digital anomalies, Part 1: On brachydactyly and symphalangism. In: The Treasury of Human Inheritance. Cambridge Univ. Press, Cambridge

5. Buxton P, Edwards C, Archer CW, Francis-West P (2001) Growth/differentiation factor-5 (GDF-5) and skeletal development. J Bone Joint Surg Am 83-A(Suppl 1):S23–S30

Cited by 16 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. A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias;Bone;2023-10

2. Chondrodysplasia, Grebe Type;Genetic Syndromes;2023

3. Controlling BMP growth factor bioavailability: The extracellular matrix as multi skilled platform;Cellular Signalling;2021-09

4. A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review;European Journal of Medical Genetics;2021-07

5. GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations;Bone;2021-03