Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy-Reference-Cited by-同舟云学术

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Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy

Published:2022-12 Issue: Volume:33 Page:100937
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Yeh Tsai-Chu,Niu Dau-Ming,Cheng Hui-Chen,Chen Yun-Ru,Chen Li-Zhen,Tsui Shu-Ping,Liao Ting-Wei Ernie,Wang An-Guor,Yang Chia-Feng

Funder

Taipei Veterans General Hospital

Ministry of Science and Technology, Taiwan

Yen Tjing Ling Medical Foundation

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference20 articles.

1. Ciliopathies: an expanding disease spectrum;Waters;Pediatr. Nephrol.,2011

2. Review: Intraflagellar transport proteins in the retina;Kannabiran;Mol. Vis.,2020

3. The role of retrograde intraflagellar transport in flagellar assembly, maintenance, and function;Engel;J. Cell Biol.,2012

4. Intraflagellar transport: from molecular characterisation to mechanism;Blacque;Front. Biosci.,2008

5. The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking;Liem;J. Cell Biol.,2012

Cited by 2 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. IFT140 Mutation and End-Stage Renal Disease in Mainzer-Saldino Syndrome: A Case Report;Cureus;2024-02-09

2. Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies;Genes;2023-07-28

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