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Items: 1 to 20 of 73

1.

A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report.

Li M, Liu J, Yi H, Xu L, Zhong X, Peng F.

BMC Pediatr. 2018 Mar 17;18(1):116. doi: 10.1186/s12887-018-1091-1.

2.

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

Kobayashi M, Miyagawa M, Nishio SY, Moteki H, Fujikawa T, Ohyama K, Sakaguchi H, Miyanohara I, Sugaya A, Naito Y, Morita SY, Kanda Y, Takahashi M, Ishikawa K, Nagano Y, Tono T, Oshikawa C, Kihara C, Takahashi H, Noguchi Y, Usami SI.

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

3.

Whole exome sequencing identifies a pathogenic mutation in WFS1 in two large Chinese families with autosomal dominant all-frequency hearing loss and prenatal counseling.

Cheng H, Zhang Q, Wang W, Meng Q, Wang F, Liu M, Mao J, Shi Y, Wang W, Li H.

Int J Pediatr Otorhinolaryngol. 2018 Mar;106:113-119. doi: 10.1016/j.ijporl.2018.01.005. Epub 2018 Jan 31.

PMID:
29447883
4.

Knockdown of wfs1, a fly homolog of Wolfram syndrome 1, in the nervous system increases susceptibility to age- and stress-induced neuronal dysfunction and degeneration in Drosophila.

Sakakibara Y, Sekiya M, Fujisaki N, Quan X, Iijima KM.

PLoS Genet. 2018 Jan 22;14(1):e1007196. doi: 10.1371/journal.pgen.1007196. eCollection 2018 Jan.

5.

Bladder dysfunction in Wolfram syndrome is highly prevalent and progresses to megacystis.

Wragg R, Dias RP, Barrett T, McCarthy L.

J Pediatr Surg. 2018 Feb;53(2):321-325. doi: 10.1016/j.jpedsurg.2017.11.025. Epub 2017 Nov 14.

PMID:
29277467
6.

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

Choi HJ, Lee JS, Yu S, Cha DH, Gee HY, Choi JY, Lee JD, Jung J.

BMC Med Genet. 2017 Dec 19;18(1):151. doi: 10.1186/s12881-017-0511-7.

7.

Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.

Bansal V, Gassenhuber J, Phillips T, Oliveira G, Harbaugh R, Villarasa N, Topol EJ, Seufferlein T, Boehm BO.

BMC Med. 2017 Dec 6;15(1):213. doi: 10.1186/s12916-017-0977-3.

8.

Detecting Long-Term Balancing Selection Using Allele Frequency Correlation.

Siewert KM, Voight BF.

Mol Biol Evol. 2017 Nov 1;34(11):2996-3005. doi: 10.1093/molbev/msx209.

9.

A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment.

Kytövuori L, Hannula S, Mäki-Torkko E, Sorri M, Majamaa K.

Hear Res. 2017 Nov;355:97-101. doi: 10.1016/j.heares.2017.09.013. Epub 2017 Sep 28.

PMID:
28974383
10.

Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to OPA1 mutation status.

Gaier ED, Boudreault K, Nakata I, Janessian M, Skidd P, DelBono E, Allen KF, Pasquale LR, Place E, Cestari DM, Stacy RC, Rizzo JF 3rd, Wiggs JL.

Mol Vis. 2017 Aug 10;23:548-560. eCollection 2017.

11.

Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family.

Niu Z, Feng Y, Hu Z, Li J, Sun J, Chen H, He C, Wang X, Jiang L, Liu Y, Cai X, Wang L, Cai Y, Liu X, Mei L.

Int J Pediatr Otorhinolaryngol. 2017 Sep;100:1-7. doi: 10.1016/j.ijporl.2017.06.008. Epub 2017 Jun 15.

PMID:
28802351
12.

A Genome-Wide Association Study of IVGTT-Based Measures of First-Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants.

Wood AR, Jonsson A, Jackson AU, Wang N, van Leewen N, Palmer ND, Kobes S, Deelen J, Boquete-Vilarino L, Paananen J, Stančáková A, Boomsma DI, de Geus EJC, Eekhoff EMW, Fritsche A, Kramer M, Nijpels G, Simonis-Bik A, van Haeften TW, Mahajan A, Boehnke M, Bergman RN, Tuomilehto J, Collins FS, Mohlke KL, Banasik K, Groves CJ, McCarthy MI; Diabetes Research on Patient Stratification (DIRECT), Pearson ER, Natali A, Mari A, Buchanan TA, Taylor KD, Xiang AH, Gjesing AP, Grarup N, Eiberg H, Pedersen O, Chen YD, Laakso M, Norris JM, Smith U, Wagenknecht LE, Baier L, Bowden DW, Hansen T, Walker M, Watanabe RM, 't Hart LM, Hanson RL, Frayling TM.

Diabetes. 2017 Aug;66(8):2296-2309. doi: 10.2337/db16-1452. Epub 2017 May 10.

13.

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

De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, Oh V, Petz O, Caswell R, Ellard S, Urano F, Hattersley AT.

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

14.

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG.

Hum Mutat. 2017 Jul;38(7):764-777. doi: 10.1002/humu.23233. Epub 2017 Jun 1.

15.

The Application of Next-Generation Sequencing for Mutation Detection in Autosomal-Dominant Hereditary Hearing Impairment.

Gürtler N, Röthlisberger B, Ludin K, Schlegel C, Lalwani AK.

Otol Neurotol. 2017 Jul;38(6):900-903. doi: 10.1097/MAO.0000000000001432.

PMID:
28419064
16.

Clock Gene Dysregulation Induced by Chronic ER Stress Disrupts β-cell Function.

Ohta Y, Taguchi A, Matsumura T, Nakabayashi H, Akiyama M, Yamamoto K, Fujimoto R, Suetomi R, Yanai A, Shinoda K, Tanizawa Y.

EBioMedicine. 2017 Apr;18:146-156. doi: 10.1016/j.ebiom.2017.03.040. Epub 2017 Mar 30.

17.

A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome.

Morikawa S, Tajima T, Nakamura A, Ishizu K, Ariga T.

Pediatr Diabetes. 2017 Dec;18(8):934-941. doi: 10.1111/pedi.12513. Epub 2017 Mar 8.

PMID:
28271591
18.

WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss.

Kasakura-Kimura N, Masuda M, Mutai H, Masuda S, Morimoto N, Ogahara N, Misawa H, Sakamoto H, Saito K, Matsunaga T.

Laryngoscope. 2017 Sep;127(9):E324-E329. doi: 10.1002/lary.26528. Epub 2017 Mar 8.

PMID:
28271504
19.

Variants in WFS1 and Other Mendelian Deafness Genes Are Associated with Cisplatin-Associated Ototoxicity.

Wheeler HE, Gamazon ER, Frisina RD, Perez-Cervantes C, El Charif O, Mapes B, Fossa SD, Feldman DR, Hamilton RJ, Vaughn DJ, Beard CJ, Fung C, Kollmannsberger C, Kim J, Mushiroda T, Kubo M, Ardeshir-Rouhani-Fard S, Einhorn LH, Cox NJ, Dolan ME, Travis LB.

Clin Cancer Res. 2017 Jul 1;23(13):3325-3333. doi: 10.1158/1078-0432.CCR-16-2809. Epub 2016 Dec 30.

20.

Clinical whole exome sequencing in early onset diabetes patients.

Kwak SH, Jung CH, Ahn CH, Park J, Chae J, Jung HS, Cho YM, Lee DH, Kim JI, Park KS.

Diabetes Res Clin Pract. 2016 Dec;122:71-77. doi: 10.1016/j.diabres.2016.10.005. Epub 2016 Oct 15.

PMID:
27810688

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