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Items: 3

Select item 97118731.

Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant

Abhimanyu Garg, Wee-Teik Keng, Zhenkang Chen, Adwait Amod Sathe, Chao Xing, Pavithira Devi Kailasam, Yanqiu Shao, Nicholas P. Lesner, Claire B. Llamas, Anil K. Agarwal, Prashant Mishra

J Clin Invest. 2022 Dec 1; 132(23): e156864. Published online 2022 Dec 1. doi: 10.1172/JCI156864

PMCID:: PMC9711873

Abstract Article PDF–6.3M

Select item 95890262.

A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay

Cameron Young, Dominyka Batkovskyte, Miyuki Kitamura, Maria Shvedova, Yutaro Mihara, Jun Akiba, Wen Zhou, Anna Hammarsjö, Gen Nishimura, Shuichi Yatsuga, Giedre Grigelioniene, Tatsuya Kobayashi

HGG Adv. 2023 Jan 12; 4(1): 100148. Published online 2022 Oct 4. doi: 10.1016/j.xhgg.2022.100148

PMCID:: PMC9589026

Abstract Article PDF–3.0M

Select item 58410863.

High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy

Samuel A. Hasson, Lesley A. Kane, Koji Yamano, Chiu-Hui Huang, Danielle A. Sliter, Eugen Buehler, Chunxin Wang, Sabrina M. Heman-Ackah, Tara Hessa, Rajarshi Guha, Scott E. Martin, Richard J. Youle

Nature. Author manuscript; available in PMC 2018 Mar 7.

Published in final edited form as: Nature. 2013 Dec 12; 504(7479): 291–295. Published online 2013 Nov 24. doi: 10.1038/nature12748