PMC Articles for MedGen (Select 1763502) - PMC

Select item 92932881.

A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response

Alanna Strong, Michael E. March, Christopher J. Cardinale, Sophia E. Kim, Jamie Merves, Hilary Whitworth, Leslie Raffini, Christopher Larosa, Lawrence Copelovitch, Cuiping Hou, Diana Slater, Courtney Vaccaro, Deborah Watson, Elaine H. Zackai, Jeffrey Billheimer, Hakon Hakonarson

Am J Med Genet A. 2022 Feb; 188(2): 463–472. Published online 2021 Oct 15. doi: 10.1002/ajmg.a.62537

PMCID:: PMC9293288

Abstract Article PDF–2.1M

Select item 79819122.

MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders

Natarin Caengprasath, Thanakorn Theerapanon, Thantrira Porntaveetus, Vorasuk Shotelersuk

J Transl Med. 2021; 19: 114. Published online 2021 Mar 20. doi: 10.1186/s12967-021-02779-5

PMCID:: PMC7981912

Abstract Article PDF–1.9M

Select item 73326433.

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

Huijun Wang, Aytaj Humbatova, Yuanxiang Liu, Wen Qin, Mingyang Lee, Nicole Cesarato, Fanny Kortüm, Sheetal Kumar, Maria Teresa Romano, Shangzhi Dai, Ran Mo, Sugirthan Sivalingam, Susanne Motameny, Yuan Wu, Xiaopeng Wang, Xinwu Niu, Songmei Geng, Dorothea Bornholdt, Peter M. Kroisel, Gianluca Tadini, Scott D. Walter, Fabian Hauck, Katta M. Girisha, Anne-Marie Calza, Armand Bottani, Janine Altmüller, Andreas Buness, Shuxia Yang, Xiujuan Sun, Lin Ma, Kerstin Kutsche, Karl-Heinz Grzeschik, Regina C. Betz, Zhimiao Lin

Am J Hum Genet. 2020 Jul 2; 107(1): 34–45. Published online 2020 Jun 3. doi: 10.1016/j.ajhg.2020.05.006

PMCID:: PMC7332643

Abstract Article PDF–1.8M

Select item 66876424.

A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome

Yanyun Jiang, Hongzhong Jin, Yueping Zeng

Mol Genet Genomic Med. 2019 Aug; 7(8): e812. Published online 2019 Jun 18. doi: 10.1002/mgg3.812

PMCID:: PMC6687642

Abstract Article PDF–834K

Select item 64811805.

A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss and palmoplantar keratoderma

Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Hamidreza Mahmoudi, Razieh Karamzadeh, Ariana Kariminejad, Jianhe Huang, Leping Li, Thomas F. Jannace, Paolo Fortina, Sirous Zeinali, Thomas W. White, Jouni Uitto

Hum Mutat. Author manuscript; available in PMC 2020 Feb 1.

Published in final edited form as: Hum Mutat. 2019 Feb; 40(2): 217–229. Published online 2018 Dec 1. doi: 10.1002/humu.23686

PMCID:: PMC6481180

Abstract Article PDF–2.1M

Select item 26679926.

IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

Frank Oeffner, Gayle Fischer, Rudolf Happle, Arne König, Regina C. Betz, Dorothea Bornholdt, Ulrike Neidel, María del Carmen Boente, Silke Redler, Javier Romero-Gomez, Aïcha Salhi, Ángel Vera-Casaño, Christian Weirich, Karl-Heinz Grzeschik

Am J Hum Genet. 2009 Apr 10; 84(4): 459–467. doi: 10.1016/j.ajhg.2009.03.014

PMCID:: PMC2667992

Abstract Article PDF–1022K

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