Focal Segmental Glomerulosclerosis in Patients with Mandibuloacral Dysplasia Owing to ZMPSTE24 Deficiency-Reference-Cited by-同舟云学术

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Focal Segmental Glomerulosclerosis in Patients with Mandibuloacral Dysplasia Owing to ZMPSTE24 Deficiency

Published:2006-05 Issue:4 Volume:54 Page:208-213
ISSN:1081-5589
Container-title:Journal of Investigative Medicine
language:en
Short-container-title:Journal of Investigative Medicine

Author:

Agarwal Anil K.,Zhou Xin J.,Hall Roger K.,Nicholls Kathy,Bankier Agnes,Van Esch Hilde,Fryns Jean-Pierre,Garg Abhimanyu

Publisher

BMJ

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Reference26 articles.

1. Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C

2. Genetic and Phenotypic Heterogeneity in Patients with Mandibuloacral Dysplasia-Associated Lipodystrophy

3. Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C

4. A Novel Homozygous Ala529ValLMNAMutation in Turkish Patients with Mandibuloacral Dysplasia

5. LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)

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3. Lipodystrophy-associated progeroid syndromes;Hormones;2022-07-15

4. An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon;Gene;2022-07

5. DNA repair-related genes and adipogenesis: Lessons from congenital lipodystrophies;Genetics and Molecular Biology;2022

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