The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function-Reference-Cited by-同舟云学术

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

Published:2018-12-21 Issue:3 Volume:40 Page:299-309
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Girisha Katta M.¹^ORCID,von Elsner Leonie²,Neethukrishna Kausthubham¹,Muranjan Mamta³⁴,Shukla Anju¹,Bhavani Gandham SriLakshmi¹,Nishimura Gen⁵,Kutsche Kerstin²^ORCID,Mortier Geert⁶

Affiliation:

1. Department of Medical Genetics; Kasturba Medical College; Manipal Academy of Higher Education; Manipal India

2. Institute of Human Genetics; University Medical Center Hamburg-Eppendorf; Hamburg Germany

3. Department of Clinical Genetics; Seth GS Medical College and KEM Hospital; Mumbai India

4. Consultant in Clinical Genetics; P.D. Hinduja National Hospital & MRC; Mumbai India

5. Department of Pediatric Imaging; Tokyo Metropolitan Children's Medical Center; Fuchu Japan

6. Centre of Medical Genetics; University of Antwerp & University Hospital Antwerp; Antwerp Belgium

Funder

Deutsche Forschungsgemeinschaft

Science and Engineering Research Board, The Department of Science and Technology, Government of India

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23693/fullpdf

Reference49 articles.

1. Proteasome inhibitor-induced apoptosis of B-chronic lymphocytic leukaemia cells involves cytochrome c release and caspase activation, accompanied by formation of an 700 kDa Apaf-1 containing apoptosome complex;Almond;Leukemia,2001

2. The i-AAA protease YME1L and OMA1 cleave OPA1 to balance mitochondrial fusion and fission;Anand;The Journal of Cell Biology,2014

3. Nosology and classification of genetic skeletal disorders: 2015 revision;Bonafe;American Journal of Medical Genetics Part A,2015

4. Enzymatic formation and decarboxylation of phosphatidylserine;Borkenhagen;Journal of Biological Chemistry,1961

5. Glutathione peroxidases;Brigelius-Flohe;Biochimica et Biophysica Acta,2013

Cited by 63 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. Molecular signatures of longissimus dorsi differ between dairy cattle based on prepartum muscle reserves and branched-chain volatile fatty acid supplementation;Physiological Genomics;2024-09-01

2. Mitochondrial membrane lipids in the regulation of bioenergetic flux;Cell Metabolism;2024-09

3. Mitochondrial membrane synthesis, remodelling and cellular trafficking;Journal of Inherited Metabolic Disease;2024-06-14

4. Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology;Clinical Genetics;2024-05-27

5. Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome;European Journal of Human Genetics;2024-05-03