Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta-Reference-Cited by-同舟云学术

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Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta

Published:2016-12-10 Issue:4 Volume:28 Page:1473-1480
ISSN:0937-941X
Container-title:Osteoporosis International
language:en
Short-container-title:Osteoporos Int

Author:

Zhang H.,Yue H.,Wang C.,Gu J.,He J.,Fu W.,Hu W.,Zhang Z.

Funder

National Basic Research Program of China

National Natural Science Foundation of China (CN)

National Natural Science Foundation of China

Science and Technology Commission of Shanghai Municipality (CN)

Science and Technology commission of Shanghai municipality

Chongqing city fundamental and advanced research projects

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology, Diabetes and Metabolism

Link

http://link.springer.com/content/pdf/10.1007/s00198-016-3866-2.pdf

Reference24 articles.

1. Cheung MS, Glorieux FH (2008) Osteogenesis imperfecta: update on presentation and management. Rev Endocr Metab Disord 9:153–160

2. Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bachinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B (2006) CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 127:291–304

3. Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, Leikin S, Makareeva E, Kuznetsova N, Uveges TE, Ashok A, Flor AW, Mulvihill JJ, Wilson PL, Sundaram UT, Lee B, Marini JC (2006) Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med 355:2757–2764

4. Forlino A, Cabral WA, Barnes AM, Marini JC (2011) New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol 7:540–557

5. Van Dijk FS, Sillence DO (2014) Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A 164a:1470–1481

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1. The role of vesicle trafficking genes in osteoblast differentiation and function;Scientific Reports;2023-09-26

2. Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes;Human Genetics;2023-09-07

3. Rare genetic variants inSEC24Dmodify orofacial cleft phenotypes;2023-03-27

4. TMED family genes and their roles in human diseases;International Journal of Medical Sciences;2023

5. Case report: Clinical manifestations and genotype analysis of a child with PTPN11 and SEC24D mutations;Frontiers in Pediatrics;2022-09-14

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