| Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy. | Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.
de Muijnck C, Haer-Wigman L, van Everdingen JAM, Lushchyk T, Heutinck PAT, van Dooren MF, Kievit AJA, Verhoeven VJM, Simon MEH, Wasmann RA, Notting IC, De Baere E, Walraedt S, De Zaeytijd J, Van den Broeck F, Leroy BP, Boon CJF, van Genderen MM., Free PMC Article | 10/10/2024 |
| Novel WFS1 Variants in Two Moroccan Families with Wolfram Syndrome. | Novel WFS1 Variants in Two Moroccan Families with Wolfram Syndrome.
Bouhouche A, Sefiani S, Charoute H, Houyam T, Bouslam N, El Yousfi FZ, Bnouhana W, Benomar A, Ouadghiri FZ, Regragui W. | 06/12/2024 |
| High Frequency of Recessive WFS1 Mutations Among Indian Children With Islet Antibody-negative Type 1 Diabetes. | High Frequency of Recessive WFS1 Mutations Among Indian Children With Islet Antibody-negative Type 1 Diabetes.
Menon JC, Singh P, Archana A, Singh P, Mittal M, Kanga U, Mandal K, Seth A, Bhatia V, Dabadghao P, Sudhanshu S, Garg A, Vishwakarma R, Sarangi AN, Verma S, Singh SK, Bhatia E. | 02/22/2024 |
| The miR-668 binding site variant rs1046322 on WFS1 is associated with obesity in Southeast Asians. | The miR-668 binding site variant rs1046322 on WFS1 is associated with obesity in Southeast Asians.
Hammad MM, Abu-Farha M, Hebbar P, Anoop E, Chandy B, Melhem M, Channanath A, Al-Mulla F, Thanaraj TA, Abubaker J., Free PMC Article | 11/30/2023 |
| Selective proteasome degradation of C-terminally-truncated human WFS1 in pancreatic beta cells. | Selective proteasome degradation of C-terminally-truncated human WFS1 in pancreatic beta cells.
Tokuma H, Sakano D, Tanabe K, Tanizawa Y, Shiraki N, Kume S., Free PMC Article | 08/4/2023 |
| Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum. | Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.
de Muijnck C, Brink JBT, Bergen AA, Boon CJF, van Genderen MM. | 06/26/2023 |
| The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes. | The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes.
Li Y, Gong S, Li M, Cai X, Liu W, Zhang S, Ma Y, Luo Y, Zhou L, Zhang X, Huang X, Gao X, Hu M, Li Y, Ren Q, Wang Y, Zhou X, Han X, Ji L., Free PMC Article | 06/13/2023 |
| Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome. | Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome.
Zatyka M, Rosenstock TR, Sun C, Palhegyi AM, Hughes GW, Lara-Reyna S, Astuti D, di Maio A, Sciauvaud A, Korsgen ME, Stanulovic V, Kocak G, Rak M, Pourtoy-Brasselet S, Winter K, Varga T, Jarrige M, Polvèche H, Correia J, Frickel EM, Hoogenkamp M, Ward DG, Aubry L, Barrett T, Sarkar S., Free PMC Article | 05/17/2023 |
| Genetic Variants of HNF4A, WFS1, DUSP9, FTO, and ZFAND6 Genes Are Associated with Prediabetes Susceptibility and Inflammatory Markers in the Saudi Arabian Population. | Genetic Variants of HNF4A, WFS1, DUSP9, FTO, and ZFAND6 Genes Are Associated with Prediabetes Susceptibility and Inflammatory Markers in the Saudi Arabian Population.
Binjawhar DN, Ansari MGA, Sabico S, Hussain SD, Alenad AM, Alokail MS, Al-Masri AA, Al-Daghri NM., Free PMC Article | 04/14/2023 |
| Novel WFS1 mutations in patients with low-to-middle frequency hearing loss. | Novel WFS1 mutations in patients with low-to-middle frequency hearing loss.
Guo L, Gu X, Sun Q, Zhang Y, Li H, Du Q. | 04/4/2023 |
| System analysis based on the ER stress-related genes identifies WFS1 as a novel therapy target for colon cancer. | System analysis based on the ER stress-related genes identifies WFS1 as a novel therapy target for colon cancer.
Yang X, Zhang C, Yan C, Ma L, Ma J, Meng X., Free PMC Article | 12/17/2022 |
| WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression. | WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression.
Majander A, Jurkute N, Burté F, Brock K, João C, Huang H, Neveu MM, Chan CM, Duncan HJ, Kelly S, Burkitt-Wright E, Khoyratty F, Lai YT, Subash M, Chinnery PF, Bitner-Glindzicz M, Arno G, Webster AR, Moore AT, Michaelides M, Stockman A, Robson AG, Yu-Wai-Man P. | 09/17/2022 |
| WFS1 Gene-associated Diabetes Phenotypes and Identification of a Founder Mutation in Southern India. | WFS1 Gene-associated Diabetes Phenotypes and Identification of a Founder Mutation in Southern India.
Chapla A, Johnson J, Korula S, Mohan N, Ahmed A, Varghese D, Rangasamy P, Ravichandran L, Jebasingh F, Kumar Agrawal K, Somasundaram N, Hesarghatta Shyamasunder A, Mathai S, Simon A, Jha S, Chowdry S, Venkatesan R, Raghupathy P, Thomas N. | 04/23/2022 |
| WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome. | WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.
Hu K, Zatyka M, Astuti D, Beer N, Dias RP, Kulkarni A, Ainsworth J, Wright B, Majander A, Yu-Wai-Man P, Williams D, Barrett T., Free PMC Article | 03/12/2022 |
| Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome. | Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome.
Ren Z, Yi J, Zhong M, Wang Y, Liu Q, Wang X, Liu D, Ren W., Free PMC Article | 01/15/2022 |
| WFS1 functions in ER export of vesicular cargo proteins in pancreatic beta-cells. | WFS1 functions in ER export of vesicular cargo proteins in pancreatic β-cells.
Wang L, Liu H, Zhang X, Song E, Wang Y, Xu T, Li Z., Free PMC Article | 01/8/2022 |
| Wolfram Syndrome: Cracking the Code to Better Therapies. | Wolfram Syndrome: Cracking the Code to Better Therapies.
| 01/8/2022 |
| Different clinical entities of the same mutation: a case report of three sisters with Wolfram syndrome and efficacy of dipeptidyl peptidase-4 inhibitor therapy. | Different clinical entities of the same mutation: a case report of three sisters with Wolfram syndrome and efficacy of dipeptidyl peptidase-4 inhibitor therapy.
Tarcin G, Turan H, Dagdeviren Cakir A, Ozer Y, Aykut A, Alpman Durmaz A, Ercan O, Evliyaoglu O. | 01/8/2022 |
| Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations. | Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations.
Zhu M, Li Y, Dong G, Chen X, Huang K, Wu W, Dai Y, Zhang L, Lin H, Wang S, Polychronakos C, Fu J. | 12/25/2021 |
| Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation. | Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation.
Panfili E, Mondanelli G, Orabona C, Belladonna ML, Gargaro M, Fallarino F, Orecchini E, Prontera P, Proietti E, Frontino G, Tirelli E, Iacono A, Vacca C, Puccetti P, Grohmann U, Esposito S, Pallotta MT., Free PMC Article | 11/13/2021 |
| 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 | 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.
Sherif M, Demirbilek H, Çayır A, Tahir S, Çavdarlı B, Demiral M, Cebeci AN, Vurallı D, Rahman SA, Unal E, Büyükyılmaz G, Baran RT, Özbek MN, Hussain K., Free PMC Article | 11/6/2021 |
| Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype. | Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.
Li J, Xu H, Sun J, Tian Y, Liu D, Qin Y, Liu H, Li R, Neng L, Deng X, Xue B, Yu C, Tang W., Free PMC Article | 09/25/2021 |
| A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4. | A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4.
Delvecchio M, Ortolani F, Palumbo O, Aloi C, Salina A, Susca FC, Palumbo P, Carella M, Resta N, Piccinno E., Free PMC Article | 09/11/2021 |
| Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms. | Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms.
Abu-El-Haija A, McGowan C, Vanderveen D, Bodamer O. | 07/10/2021 |
| Effect of 4-phenylbutyrate and valproate on dominant mutations of WFS1 gene in Wolfram syndrome. | Effect of 4-phenylbutyrate and valproate on dominant mutations of WFS1 gene in Wolfram syndrome.
Batjargal K, Tajima T, Jimbo EF, Yamagata T. | 06/5/2021 |