Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations-Reference-Cited by-同舟云学术

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Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations

Published:2016-10 Issue: Volume:461 Page:172-180
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Liu Yi,Song Lijie,Ma Doudou,Lv Fang,Xu Xiaojie,Wang Jianyi,Xia Weibo,Jiang Yan,Wang Ou,Song Yuwen,Xing Xiaoping,Asan ,Li Mei

Funder

National Natural Science Foundation of China

National Key Program of Clinical Science

Tianjin Municipal Science and Technology Special Funds for Enterprise Development

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference43 articles.

1. Osteogenesis imperfecta;Forlino;Lancet,2016

2. Mutations in SERPINF1 cause osteogenesis imperfecta type VI;Homan;J. Bone Miner. Res. Off. J. Am. Soc. Bone Miner. Res.,2011

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

4. Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding;Barnes;N. Engl. J. Med.,2010

5. Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen;Schwarze;Hum. Mol. Genet.,2013

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1. Emerging Landscape of Osteogenesis Imperfecta Pathogenesis and Therapeutic Approaches;ACS Pharmacology & Translational Science;2024-01-02

2. Three Chinese Patients with WNT1 Mutations-related Osteogenesis Imperfecta and Literature Review of Extra-skeletal Manifestations;Pediatric Oncall;2024

3. Application of whole-exome sequencing technology in clarifying 269 cases of fetal skeletal system disorders;2023-10-31

4. In silico analyses of Wnt1 nsSNPs reveal structurally destabilizing variants, altered interactions with Frizzled receptors and its deregulation in tumorigenesis;Scientific Reports;2022-09-02

5. Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene;Frontiers in Endocrinology;2022-08-08

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