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Items: 1 to 20 of 705

1.

Effect of GJB2 235delC and 30-35delG genetic polymorphisms on risk of congenital deafness in a Chinese population.

Xiong Y, Zhong M, Chen J, Yan YL, Lin XF, Li X.

Genet Mol Res. 2017 Feb 8;16(1). doi: 10.4238/gmr16019165.

PMID:
28198501
2.

Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province.

Shi L, Chen J, Li J, Wei X, Gao X.

J Laryngol Otol. 2016 Oct;130(10):902-906. Epub 2016 Aug 18.

PMID:
27534436
3.

Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family.

Pavithra A, Chandru J, Jeffrey JM, Karthikeyen NP, Srisailapathy CR.

Eur Arch Otorhinolaryngol. 2017 Jan;274(1):119-125. doi: 10.1007/s00405-016-4229-5. Epub 2016 Aug 1.

PMID:
27481527
4.

Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.

Bakhchane A, Bousfiha A, Charoute H, Salime S, Detsouli M, Snoussi K, Nadifi S, Kabine M, Rouba H, Dehbi H, Roky R, Charif M, Barakat A.

Eur J Med Genet. 2016 Jun;59(6-7):325-9. doi: 10.1016/j.ejmg.2016.05.002. Epub 2016 May 8.

PMID:
27169813
5.

Somatic Mosaicism for a "Lethal" GJB2 Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement.

Eskin-Schwartz M, Metzger Y, Peled A, Weissglas-Volkov D, Malchin N, Gat A, Vodo D, Mevorah B, Shomron N, Sprecher E, Sarig O.

Pediatr Dermatol. 2016 May;33(3):322-6. doi: 10.1111/pde.12848. Epub 2016 Apr 18. Review.

PMID:
27087580
6.

Etiology and associated GJB2 mutations in Mauritanian children with non-syndromic hearing loss.

Moctar EC, Riahi Z, El Hachmi H, Veten F, Meiloud G, Bonnet C, Abdelhak S, Errami M, Houmeida A.

Eur Arch Otorhinolaryngol. 2016 Nov;273(11):3693-3698. Epub 2016 Apr 11.

PMID:
27067584
7.

The homozygote p.V27I/p.E114G variant of GJB2 is a putative indicator of nonsyndromic hearing loss in Chinese infants.

Chen WX, Huang Y, Yang XL, Duan B, Lu P, Wang Y, Xu ZM.

Int J Pediatr Otorhinolaryngol. 2016 May;84:48-51. doi: 10.1016/j.ijporl.2016.02.024. Epub 2016 Mar 2.

PMID:
27063752
8.

Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?

Kim SY, Kim AR, Kim NK, Lee C, Kim MY, Jeon EH, Park WY, Choi BY.

Medicine (Baltimore). 2016 Apr;95(14):e3029. doi: 10.1097/MD.0000000000003029.

9.

Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss.

Xia H, Xu H, Deng X, Yuan L, Xiong W, Yang Z, Deng H.

Acta Otolaryngol. 2016 Aug;136(8):782-5. doi: 10.3109/00016489.2016.1157727. Epub 2016 Apr 4.

PMID:
27045574
10.

[The audiological analysis in the patients homozygous for the c.-23+1G>A mutation in the GJB2 gene presenting with the loss of hearing in Yakutiya].

Teryutin FM, Barashkov NA, Kunel'skaya NL, Pshennikova VG, Solov'ev AV.

Vestn Otorinolaringol. 2016;81(1):19-24. Russian.

PMID:
26977562
11.

The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.

Mikstiene V, Jakaitiene A, Byckova J, Gradauskiene E, Preiksaitiene E, Burnyte B, Tumiene B, Matuleviciene A, Ambrozaityte L, Uktveryte I, Domarkiene I, Rancelis T, Cimbalistiene L, Lesinskas E, Kucinskas V, Utkus A.

BMC Genet. 2016 Feb 19;17:45. doi: 10.1186/s12863-016-0354-9.

12.

Altered cellular localization and hemichannel activities of KID syndrome associated connexin26 I30N and D50Y mutations.

Aypek H, Bay V, Meşe G.

BMC Cell Biol. 2016 Feb 2;17:5. doi: 10.1186/s12860-016-0081-0.

13.

Phenotype in a patient with p.D50N mutation in GJB2 gene resemble both KID and Clouston syndromes.

Markova TG, Brazhkina NB, Bliznech EA, Bakhshinyan VV, Polyakov AV, Tavartkiladze GA.

Int J Pediatr Otorhinolaryngol. 2016 Feb;81:10-4. doi: 10.1016/j.ijporl.2015.11.022. Epub 2015 Dec 9.

PMID:
26810281
14.

Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients.

Burke WF, Warnecke A, Schöner-Heinisch A, Lesinski-Schiedat A, Maier H, Lenarz T.

Hear Res. 2016 Mar;333:77-86. doi: 10.1016/j.heares.2016.01.006. Epub 2016 Jan 15.

PMID:
26778469
15.

Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness.

Dalamon V, Fiori MC, Figueroa VA, Oliva CA, Del Rio R, Gonzalez W, Canan J, Elgoyhen AB, Altenberg GA, Retamal MA.

Pflugers Arch. 2016 May;468(5):909-18. doi: 10.1007/s00424-016-1788-7. Epub 2016 Jan 14.

PMID:
26769242
16.

Connexin26 Mutations Causing Palmoplantar Keratoderma and Deafness Interact with Connexin43, Modifying Gap Junction and Hemichannel Properties.

Shuja Z, Li L, Gupta S, Meşe G, White TW.

J Invest Dermatol. 2016 Jan;136(1):225-35. doi: 10.1038/JID.2015.389.

17.

An electrostatic mechanism for Ca(2+)-mediated regulation of gap junction channels.

Bennett BC, Purdy MD, Baker KA, Acharya C, McIntire WE, Stevens RC, Zhang Q, Harris AL, Abagyan R, Yeager M.

Nat Commun. 2016 Jan 12;7:8770. doi: 10.1038/ncomms9770.

18.

The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.

Kim HR, Oh SK, Lee ES, Choi SY, Roh SE, Kim SJ, Tsukihara T, Lee KY, Jeon CJ, Kim UK.

Hum Genet. 2016 Mar;135(3):287-98. doi: 10.1007/s00439-015-1625-7. Epub 2016 Jan 9.

PMID:
26749107
19.

Impaired gap junctions in human hepatocellular carcinoma limit intrinsic oxaliplatin chemosensitivity: A key role of connexin 26.

Yang Y, Zhu J, Zhang N, Zhao Y, Li WY, Zhao FY, Ou YR, Qin SK, Wu Q.

Int J Oncol. 2016 Feb;48(2):703-13. doi: 10.3892/ijo.2015.3266. Epub 2015 Nov 26.

PMID:
26648344
20.

Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss.

Martínez-Saucedo M, Rivera-Vega Mdel R, Gonzalez--Huerta Luz M, Urueta-Cuellar H, Toral-López J, Berruecos-Villalobos P, Cuevas-Covarrubias S.

Int J Pediatr Otorhinolaryngol. 2015 Dec;79(12):2295-9. doi: 10.1016/j.ijporl.2015.10.030. Epub 2015 Oct 28. Erratum in: Int J Pediatr Otorhinolaryngol. 2016 Apr;83:93. Mirna, Martínez-Saucedo [corrected to Martinez-Saucedo, Mirna]; María del Refugio, Rivera-Vega [corrected to Rivera-Vega, María del Refugio]; María, Gonzalez-Huerta Luz [corrected to Gonzalez-Huerta Luz, María]; Héctor, Urueta-Cuellar [corrected to Urueta-Cuellar, Héctor]; Jaime, Toral-López [corrected to Toral-López, Jaime]; Pedro, Berruecos-Villalobos [corrected to Berruecos-Villalobos, Pedro]; Sergio, Cuevas-Covarrubias [corrected to Cuevas-Covarrubias, Sergio].

PMID:
26553399

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