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Select item 103920431.

Selective proteasome degradation of C‐terminally‐truncated human WFS1 in pancreatic beta cells

Hiraku Tokuma, Daisuke Sakano, Katsuya Tanabe, Yukio Tanizawa, Nobuaki Shiraki, Shoen Kume

FEBS Open Bio. 2023 Aug; 13(8): 1405–1414. Published online 2023 Jul 19. doi: 10.1002/2211-5463.13674

PMCID:: PMC10392043

Abstract Article PDF–4.0M

Select item 102417802.

The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes

Yating Li, Siqian Gong, Meng Li, Xiaoling Cai, Wei Liu, Simin Zhang, Yumin Ma, Yingying Luo, Lingli Zhou, Xiuying Zhang, Xiuting Huang, Xueying Gao, Mengdie Hu, Yufeng Li, Qian Ren, Yanai Wang, Xianghai Zhou, Xueyao Han, Linong Ji

Sci Rep. 2023; 13: 9127. Published online 2023 Jun 5. doi: 10.1038/s41598-023-36334-7

PMCID:: PMC10241780

Abstract Article PDF–929K

Select item 102026953.

Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome

Malgorzata Zatyka, Tatiana R. Rosenstock, Congxin Sun, Adina M. Palhegyi, Georgina W. Hughes, Samuel Lara-Reyna, Dewi Astuti, Alessandro di Maio, Axel Sciauvaud, Miriam E. Korsgen, Vesna Stanulovic, Gamze Kocak, Malgorzata Rak, Sandra Pourtoy-Brasselet, Katherine Winter, Thiago Varga, Margot Jarrige, Hélène Polvèche, Joao Correia, Eva-Maria Frickel, Maarten Hoogenkamp, Douglas G. Ward, Laetitia Aubry, Timothy Barrett, Sovan Sarkar

Stem Cell Reports. 2023 May 9; 18(5): 1090–1106. Published online 2023 May 9. doi: 10.1016/j.stemcr.2023.04.002

PMCID:: PMC10202695

Abstract Article PDF–8.1M

Select item 97403604.

System analysis based on the ER stress-related genes identifies WFS1 as a novel therapy target for colon cancer

Xianguang Yang, Chaoyang Zhang, Cheng Yan, Liukai Ma, Jiahao Ma, Xiaoke Meng

Aging (Albany NY) 2022 Nov 30; 14(22): 9243–9263. Published online 2022 Nov 28. doi: 10.18632/aging.204404

PMCID:: PMC9740360

Abstract Article PDF–2.6M

Select item 86856515.

WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome

Kun Hu, Malgorzata Zatyka, Dewi Astuti, Nicola Beer, Renuka P Dias, Archana Kulkarni, John Ainsworth, Benjamin Wright, Anna Majander, Patrick Yu-Wai-Man, Denise Williams, Timothy Barrett

J Med Genet. 2022 Jan; 59(1): 65–74. Published online 2021 May 18. doi: 10.1136/jmedgenet-2020-107257

PMCID:: PMC8685651

Abstract Article PDF–2.8M

Select item 83697216.

Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome

Ziyu Ren, Jixiu Yi, Min Zhong, Yunting Wang, Qicong Liu, Xuan Wang, Dongfang Liu, Wei Ren

BMC Endocr Disord. 2021; 21: 166. Published online 2021 Aug 17. doi: 10.1186/s12902-021-00823-5

PMCID:: PMC8369721

Abstract Article PDF–2.9M

Select item 83484407.

A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4

Maurizio Delvecchio, Federica Ortolani, Orazio Palumbo, Concetta Aloi, Alessandro Salina, Francesco Claudio Susca, Pietro Palumbo, Massimo Carella, Nicoletta Resta, Elvira Piccinno

Int J Mol Sci. 2021 Aug; 22(15): 8082. Published online 2021 Jul 28. doi: 10.3390/ijms22158082

PMCID:: PMC8348440

Abstract Article PDF–6.5M

Select item 82603188.

Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype

Jinying Li, Hongen Xu, Jianfeng Sun, Yongan Tian, Danhua Liu, Yaping Qin, Huanfei Liu, Ruijun Li, Lingling Neng, Xiaohua Deng, Binbin Xue, Changyun Yu, Wenxue Tang

Biomed Res Int. 2021; 2021: 6624744. Published online 2021 Mar 4. doi: 10.1155/2021/6624744

PMCID:: PMC8260318

Abstract Article PDF–1.2M

Select item 80910369.

Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation

Eleonora Panfili, Giada Mondanelli, Ciriana Orabona, Maria L Belladonna, Marco Gargaro, Francesca Fallarino, Elena Orecchini, Paolo Prontera, Elisa Proietti, Giulio Frontino, Eva Tirelli, Alberta Iacono, Carmine Vacca, Paolo Puccetti, Ursula Grohmann, Susanna Esposito, Maria T Pallotta

Hum Mol Genet. 2021 Feb 1; 30(3-4): 265–276. Published online 2021 Mar 9. doi: 10.1093/hmg/ddab040

PMCID:: PMC8091036

Abstract Article PDF–1.0M

Select item 794772410.

Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis

Maha Sherif, Hüseyin Demirbilek, Atilla Çayır, Sophia Tahir, Büşra Çavdarlı, Meliha Demiral, Ayşe Nurcan Cebeci, Doğuş Vurallı, Sofia Asim Rahman, Edip Unal, Gönül Büyükyılmaz, Riza Taner Baran, Mehmet Nuri Özbek, Khalid Hussain

J Clin Res Pediatr Endocrinol. 2021 Mar; 13(1): 34–43. Published online 2021 Feb 26. doi: 10.4274/jcrpe.galenos.2020.2020.0152

PMCID:: PMC7947724

Abstract Article PDF–990K

Select item 743473211.

Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss

Jing Guan, Hongyang Wang, Lan Lan, Yusen Wu, Guohui Chen, Cui Zhao, Dayong Wang, Qiuju Wang

Mol Genet Genomic Med. 2020 Aug; 8(8): e1367. Published online 2020 Jun 22. doi: 10.1002/mgg3.1367

PMCID:: PMC7434732

Abstract Article PDF–1.0M

Select item 696140612.

Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report

Maryam Sobhani, Mohammad Amin Tabatabaiefar, Soudeh Ghafouri-Fard, Asadollah Rajab, Asal Hojjat, Abdol-Mohammad Kajbafzadeh, Mohammad Reza Noori-Daloii

BMC Med Genet. 2020; 21: 13. Published online 2020 Jan 14. doi: 10.1186/s12881-020-0950-4

Correction in:: BMC Med Genet. 2020; 21: 58.

PMCID:: PMC6961406

Abstract Article PDF–1.1M

Select item 655824713.

Lamination of the outer plexiform layer in optic atrophy caused by dominant WFS1 mutations

A Majander, M Bitner-Glindzicz, CM Chan, HJ Duncan, PF Chinnery, M Subash, PA Keane, AR Webster, AT Moore, M Michaelides, P Yu-Wai-Man

Ophthalmology. Author manuscript; available in PMC 2019 Jun 11.

Published in final edited form as: Ophthalmology. 2016 Jul 1; 123(7): 1624–1626. Published online 2016 Feb 10. doi: 10.1016/j.ophtha.2016.01.007

PMCID:: PMC6558247

Article PDF–634K

Select item 584673914.

WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis

Masafumi Kobayashi, Maiko Miyagawa, Shin-ya Nishio, Hideaki Moteki, Taro Fujikawa, Kenji Ohyama, Hirofumi Sakaguchi, Ikuyo Miyanohara, Akiko Sugaya, Yasushi Naito, Shin-ya Morita, Yukihiko Kanda, Masahiro Takahashi, Kotaro Ishikawa, Yuki Nagano, Tetsuya Tono, Chie Oshikawa, Chiharu Kihara, Haruo Takahashi, Yoshihiro Noguchi, Shin-ichi Usami

PLoS One. 2018; 13(3): e0193359. Published online 2018 Mar 12. doi: 10.1371/journal.pone.0193359

PMCID:: PMC5846739

Abstract Article PDF–5.5M

Select item 573559415.

Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report

Hye Ji Choi, Joon Suk Lee, Seyoung Yu, Do Hyeon Cha, Heon Yung Gee, Jae Young Choi, Jong Dae Lee, Jinsei Jung

BMC Med Genet. 2017; 18: 151. Published online 2017 Dec 19. doi: 10.1186/s12881-017-0511-7

PMCID:: PMC5735594

Abstract Article PDF–1.3M

Select item 549351616.

Variants in WFS1 and other Mendelian deafness genes are associated with cisplatin-associated ototoxicity

Heather E. Wheeler, Eric R. Gamazon, Robert D. Frisina, Carlos Perez-Cervantes, Omar El Charif, Brandon Mapes, Sophie D. Fossa, Darren R. Feldman, Robert J. Hamilton, David J. Vaughn, Clair J. Beard, Chunkit Fung, Christian Kollmannsberger, Jeri Kim, Taisei Mushiroda, Michiaki Kubo, Shirin Ardeshir-Rouhani-Fard, Lawrence H. Einhorn, Nancy J. Cox, M. Eileen Dolan, Lois B. Travis

Clin Cancer Res. Author manuscript; available in PMC 2018 Jul 1.

Published in final edited form as: Clin Cancer Res. 2017 Jul 1; 23(13): 3325–3333. Published online 2016 Dec 30. doi: 10.1158/1078-0432.CCR-16-2809

PMCID:: PMC5493516

Abstract Article PDF–1.0M

Select item 548208517.

Dominant ER Stress–Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts

Elisa De Franco, Sarah E. Flanagan, Takuya Yagi, Damien Abreu, Jana Mahadevan, Matthew B. Johnson, Garan Jones, Fernanda Acosta, Mphele Mulaudzi, Ngee Lek, Vera Oh, Oliver Petz, Richard Caswell, Sian Ellard, Fumihiko Urano, Andrew T. Hattersley

Diabetes. 2017 Jul; 66(7): 2044–2053. Published online 2017 May 3. doi: 10.2337/db16-1296

PMCID:: PMC5482085

Abstract Article PDF–1.4M

Select item 536317118.

Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A)

Gamze Çelmeli, Doğa Türkkahraman, Yusuf Çürek, Jayne Houghton, Sema Akçurin, İffet Bircan

J Clin Res Pediatr Endocrinol. 2017 Mar; 9(1): 80–84. Published online 2017 Mar 1. doi: 10.4274/jcrpe.2894

PMCID:: PMC5363171

Abstract Article PDF–376K

Select item 459129319.

Micro-RNA Binding Site Polymorphisms in the WFS1 Gene Are Risk Factors of Diabetes Mellitus

Zsuzsanna Elek, Nóra Németh, Géza Nagy, Helga Németh, Anikó Somogyi, Nóra Hosszufalusi, Mária Sasvári-Székely, Zsolt Rónai

PLoS One. 2015; 10(10): e0139519. Published online 2015 Oct 1. doi: 10.1371/journal.pone.0139519

PMCID:: PMC4591293

Abstract Article PDF–1.0M

Select item 442242120.

Congenital central diabetes insipidus and optic atrophy in a Wolfram newborn: is there a role for WFS1 gene in neurodevelopment?

Stefano Ghirardello, Elisa Dusi, Bianca Castiglione, Monica Fumagalli, Fabio Mosca

Ital J Pediatr. 2014; 40: 76. Published online 2014 Sep 26. doi: 10.1186/s13052-014-0076-4

PMCID:: PMC4422421

Abstract Article PDF–365K

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