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Items: 1 to 20 of 718

1.

Induction of cell death and gain-of-function properties of connexin26 mutants predict severity of skin disorders and hearing loss.

Press ER, Shao Q, Kelly JJ, Chin K, Alaga A, Laird DW.

J Biol Chem. 2017 Jun 9;292(23):9721-9732. doi: 10.1074/jbc.M116.770917. Epub 2017 Apr 20.

PMID:
28428247
2.

Predictive Value of GJB2 Mutation Status for Hearing Outcomes of Pediatric Cochlear Implantation.

Abdurehim Y, Lehmann A, Zeitouni AG.

Otolaryngol Head Neck Surg. 2017 Jul;157(1):16-24. doi: 10.1177/0194599817697054. Epub 2017 Mar 21. Review.

PMID:
28322114
3.

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
4.

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.

Gudmundsson S, Wilbe M, Ekvall S, Ameur A, Cahill N, Alexandrov LB, Virtanen M, Hellström Pigg M, Vahlquist A, Törmä H, Bondeson ML.

Hum Mol Genet. 2017 Mar 15;26(6):1070-1077. doi: 10.1093/hmg/ddx017.

5.

Cell coupling mediated by connexin 26 selectively contributes to reduced adhesivity and increased migration.

Polusani SR, Kalmykov EA, Chandrasekhar A, Zucker SN, Nicholson BJ.

J Cell Sci. 2016 Dec 1;129(23):4399-4410. Epub 2016 Oct 24.

6.

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
7.

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
8.

Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic).

Barashkov NA, Pshennikova VG, Posukh OL, Teryutin FM, Solovyev AV, Klarov LA, Romanov GP, Gotovtsev NN, Kozhevnikov AA, Kirillina EV, Sidorova OG, Vasilyevа LM, Fedotova EE, Morozov IV, Bondar AA, Solovyevа NA, Kononova SK, Rafailov AM, Sazonov NN, Alekseev AN, Tomsky MI, Dzhemileva LU, Khusnutdinova EK, Fedorova SA.

PLoS One. 2016 May 25;11(5):e0156300. doi: 10.1371/journal.pone.0156300. eCollection 2016.

9.

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
10.

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
11.

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
12.

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
13.

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.

14.

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
15.

[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. doi: 10.17116/otorino201681119-24. Russian.

PMID:
26977562
16.

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.

17.

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.

18.

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
19.

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
20.

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

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