A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy-Reference-Cited by-同舟云学术

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A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy

Published:2015-07-02 Issue:4 Volume:97 Page:336-342
ISSN:0171-967X
Container-title:Calcified Tissue International
language:en
Short-container-title:Calcif Tissue Int

Author:

Yuan Lu,Chen Ling,Liao Ruo-xi,Lin Yuan-yuan,Jiang Yan,Wang Ou,Li Mei,Xing Xiao-Ping,Pang Qian-Qian,Jiajue Ruizhi,Xia Wei-bo

Funder

National Natural Science Foundation of China

National Science and Technology Pillar Program

National Science and Technology Major Projects for “Major New Drugs Innovation and Development

Beijing Natural Science Foundation

National Key Program of Clinical Science

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

http://link.springer.com/content/pdf/10.1007/s00223-015-0024-3.pdf

Reference22 articles.

1. Rimoin DL (1965) Pachydermoperiostosis (idiopathic clubbing and periostosis): genetic and physiologic considerations. N Engl J Med 272:923–931

2. Castori M, Sinibaldi L, Mingarelli R, Lachman RS, Rimoin DL, Dallapiccola B (2005) Pachydermoperiostosis: an update. Clin Genet 68:477–486

3. Marrie TJ, Brown N (2007) Clubbing of the digits. Am J Med 120:940–941

4. Uppal S, Diggle CP, Carr IM, Fishwick CWG, Ahmed M, Ibrahim GH, Helliwell PS, Latos-Bieleńska A, Phillips SEV, Markham AF, Bennett CP, Bonthron DT (2008) Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet 40:789–793

5. Zhang Z, Xia W, He J, Zhang Z, Ke Y, Yue H, Wang C, Zhang H, Gu J, Hu W, Fu W, Hu Y, Li M, Liu Y (2012) Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. Am J Hum Genet 90:125–132

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1. Primary hypertrophic osteoarthropathy: genetics, clinical features and management;Frontiers in Endocrinology;2023-08-29

2. A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly;Bone Reports;2023-06

3. Osteoartropatía hipertrófica;EMC - Aparato Locomotor;2023-06

4. Case report: Novel homozygous HPGD variant leads to primary hypertrophic osteoarthropathy with intussusception and acro-osteolysis in a Chinese family;Frontiers in Pediatrics;2023-03-09

5. Significant increase in prostaglandin E-major urinary metabolite with physical exercise suggesting muscle inflammation;All Life;2023-01-24

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