Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 36

1.

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.

2.

Clinical Characteristics and Short-term Outcomes of Acute Low Frequency Sensorineural Hearing Loss With Vertigo.

Park MJ, Kim SH, Kim SS, Yeo SG.

Clin Exp Otorhinolaryngol. 2018 Jun;11(2):96-101. doi: 10.21053/ceo.2017.00948. Epub 2018 Jan 10.

3.

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.

4.

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.

5.

Endoplasmic Reticulum (ER) Stress and Endocrine Disorders.

Ariyasu D, Yoshida H, Hasegawa Y.

Int J Mol Sci. 2017 Feb 11;18(2). pii: E382. doi: 10.3390/ijms18020382. Review.

6.

A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.

Pater JA, Benteau T, Griffin A, Penney C, Stanton SG, Predham S, Kielley B, Squires J, Zhou J, Li Q, Abdelfatah N, O'Rielly DD, Young TL.

Hum Genet. 2017 Jan;136(1):107-118. doi: 10.1007/s00439-016-1746-7. Epub 2016 Nov 12.

7.

Clinical report: variable phenotypic expression in a large sibling cohort with a deletion of 4p16.1.

Guy C, Wang X, Lu X, Lu J, Li S.

Clin Case Rep. 2016 Aug 18;4(10):913-918. eCollection 2016 Oct.

8.

Wolfram Syndrome: Diagnosis, Management, and Treatment.

Urano F.

Curr Diab Rep. 2016 Jan;16(1):6. doi: 10.1007/s11892-015-0702-6. Review.

9.

Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.

Qian X, Qin L, Xing G, Cao X.

Sci Rep. 2015 Oct 5;5:14731. doi: 10.1038/srep14731.

10.

Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology.

Svidnicki MC, Silva-Costa SM, Ramos PZ, dos Santos NZ, Martins FT, Castilho AM, Sartorato EL.

BMC Med Genet. 2015 Sep 23;16:85. doi: 10.1186/s12881-015-0232-8.

11.

Nuclear membrane diversity: underlying tissue-specific pathologies in disease?

Worman HJ, Schirmer EC.

Curr Opin Cell Biol. 2015 Jun;34:101-12. doi: 10.1016/j.ceb.2015.06.003. Epub 2015 Jun 24. Review.

12.

Whole-exome sequencing to decipher the genetic heterogeneity of hearing loss in a Chinese family with deaf by deaf mating.

Qing J, Yan D, Zhou Y, Liu Q, Wu W, Xiao Z, Liu Y, Liu J, Du L, Xie D, Liu XZ.

PLoS One. 2014 Oct 7;9(10):e109178. doi: 10.1371/journal.pone.0109178. eCollection 2014.

13.

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

Ghirardello S, Dusi E, Castiglione B, Fumagalli M, Mosca F.

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

14.

Tissue specificity in the nuclear envelope supports its functional complexity.

de Las Heras JI, Meinke P, Batrakou DG, Srsen V, Zuleger N, Kerr AR, Schirmer EC.

Nucleus. 2013 Nov-Dec;4(6):460-77. doi: 10.4161/nucl.26872. Epub 2013 Nov 8. Review.

15.

Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation.

Bonnycastle LL, Chines PS, Hara T, Huyghe JR, Swift AJ, Heikinheimo P, Mahadevan J, Peltonen S, Huopio H, Nuutila P, Narisu N, Goldfeder RL, Stitzel ML, Lu S, Boehnke M, Urano F, Collins FS, Laakso M.

Diabetes. 2013 Nov;62(11):3943-50. doi: 10.2337/db13-0571. Epub 2013 Jul 31.

16.

Taperin (c9orf75), a mutated gene in nonsyndromic deafness, encodes a vertebrate specific, nuclear localized protein phosphatase one alpha (PP1α) docking protein.

Ferrar T, Chamousset D, De Wever V, Nimick M, Andersen J, Trinkle-Mulcahy L, Moorhead GB.

Biol Open. 2012 Feb 15;1(2):128-39. doi: 10.1242/bio.2011049. Epub 2011 Nov 24.

17.

Wolfram syndrome - clinical and diagnostic details.

Valsalan R, Gonsalves H, Mailankot M, Mulamani N, Sheshadri S.

Indian J Clin Biochem. 2009 Oct;24(4):436-8. doi: 10.1007/s12291-009-0079-x. Epub 2009 Dec 30.

18.

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.

Rendtorff ND, Lodahl M, Boulahbel H, Johansen IR, Pandya A, Welch KO, Norris VW, Arnos KS, Bitner-Glindzicz M, Emery SB, Mets MB, Fagerheim T, Eriksson K, Hansen L, Bruhn H, Möller C, Lindholm S, Ensgaard S, Lesperance MM, Tranebjaerg L.

Am J Med Genet A. 2011 Jun;155A(6):1298-313. doi: 10.1002/ajmg.a.33970. Epub 2011 Apr 28.

19.

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

Hildebrand MS, Morín M, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencía A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, Schrauwen I, Wesemael MV, Lachlan K, Shearer AE, Braun TA, Huygen PL, Kremer H, Van Camp G, Moreno F, Casavant TL, Smith RJ, Moreno-Pelayo MA.

Hum Mutat. 2011 Jul;32(7):825-34. doi: 10.1002/humu.21512. Epub 2011 Jun 7.

20.

Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

Arnett J, Emery SB, Kim TB, Boerst AK, Lee K, Leal SM, Lesperance MM.

Arch Otolaryngol Head Neck Surg. 2011 Jan;137(1):54-9. doi: 10.1001/archoto.2010.234. Erratum in: Arch Otolaryngol Head Neck Surg. 2011 Jul;137(7):711.

Supplemental Content

Support Center