A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees-Reference-Cited by-同舟云学术

A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees

Published:2021-10-25 Issue:2 Volume:188 Page:498-508
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Khan Kamal¹²³⁴,Mehmood Sarmad⁵,Liu Chunyu⁶,Siddiqui Maimoona⁷,Ahmad Arsalan⁷,Faiz Belqees Yawar⁷,Chioza Barry A.⁸^ORCID,Baple Emma A.⁸,Ullah Muhammad I.⁹,Akram Zaineb¹⁰,Satti Humayoon S.¹¹,Khan Raees¹¹,Harlalka Gaurav V.⁸¹²,Jameel Muhammad³,Akram Talia³⁴,Baig Shahid M.³⁴¹³¹⁴,Crosby Andrew H.⁸,Hassan Muhammad J.⁵¹¹,Zhang Feng⁶,Davis Erica E.¹²¹⁵¹⁶^ORCID,Khan Tahir N.¹¹¹

Affiliation:

1. Center for Human Disease Modeling, Duke University Medical Center Durham North Carolina USA

2. Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago Chicago Illinois USA

3. Human Molecular Genetics Laboratory, Health Biotechnology Division National Institute for Biotechnology and Genetic Engineering College (NIBGE‐C) Faisalabad Pakistan

4. Pakistan Institute of Engineering and Applied Sciences (PIEAS) Islamabad Pakistan

5. Atta‐ur‐Rahman School of Applied Biosciences, National University of Sciences and Technology Islamabad Pakistan

6. Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute for Biomedical and Pharmaceutical Technologies), Institute of Reproduction and Development, Fudan University Shanghai China

7. Division of Neurology Shifa International Hospital, Shifa Tameer e Millat University Islamabad Pakistan

8. RILD Wellcome Wolfson Centre ‐ Level 4, Royal Devon and Exeter NHS Foundation Trust, University of Exeter Medical School Exeter UK

9. Department of Clinical Laboratory Sciences College of Applied Medical Sciences, Jouf University Sakaka Saudi Arabia

10. Stem Cell Research Laboratory, AFBMTC, CMH Medical Complex Rawalpindi Pakistan

11. Department of Biological Sciences National University of Medical Sciences Rawalpindi Pakistan

12. Department of Pharmacology Rajarshi Shahu College of Pharmacy Malvihir, Buldana Maharashtra India

13. Pakistan Science Foundation Islamabad Pakistan

14. Department of Biological and Biomedical Sciences Aga Khan University Karachi Pakistan

15. Department of Pediatrics Feinberg School of Medicine, Northwestern University Chicago Illinois USA

16. Department of Cell and Developmental Biology Feinberg School of Medicine, Northwestern University Chicago Illinois USA

Funder

Higher Education Commision, Pakistan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62545

Reference41 articles.

1. Calpain-3 mutations in Turkey

2. UPF2, a nonsense-mediated mRNA decay factor, is required for prepubertal Sertoli cell development and male fertility by ensuring fidelity of the transcriptome

3. Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia

4. Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy

5. Identification of putativein vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice

Cited by 1 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. MRI for the diagnosis of limb girdle muscular dystrophies;Current Opinion in Neurology;2024-08-12