Molecular alteration in the Gap Junction Beta 2 (<i>GJB2</i>) gene associated with non-syndromic sensorineural hearing impairment-Reference-Cited by-同舟云学术

Molecular alteration in the Gap Junction Beta 2 (GJB2) gene associated with non-syndromic sensorineural hearing impairment

Published:2021-02-28 Issue:1 Volume:10 Page:31-36
ISSN:2186-361X
Container-title:Intractable & Rare Diseases Research
language:en
Short-container-title:IRDR

Author:

Hegde Smita¹²,Hegde Rajat³²,Kulkarni Suyamindra S²,Das Kusal K³,Gai Pramod B²,Bulgouda Rudregouda¹

Affiliation:

1. Human genetics laboratory, Department of Anatomy, Shri B. M. Patil Medical College, Hospital and Research centre, BLDE (Deemed to be University), Vijayapura, India.

2. Karnataka Institute for DNA Research (KIDNAR), Dharwad, India.

3. Laboratory vascular physiology and medicine, Department of Physiology, Shri B. M. Patil Medical College, Hospital and Research centre, BLDE (Deemed to be University), Vijayapura, India.

Publisher

International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)

Subject

General Medicine

Link

https://www.jstage.jst.go.jp/article/irdr/10/1/10_2020.03157/_pdf

Reference20 articles.

1. 1. Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature. 1997; 387:80-83.

2. 2. Banjara H, Mungutwar V, Swarnkar N, Patra P. Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic Deafness. Indian J Otolaryngol Head Neck Surg. 2016; 68:248-253.

3. 3. Pavithra A, Chandru J, Jeffrey JM, Karthikeyen NP, Srisailapathy CRS. Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family. Eur Arch Otorhinolaryngol. 2017; 274:119-125.

4. 4. Duman D, Tekin M. Autosomal recessive nonsyndromic deafness genes: A review. Front Biosci (Landmark Ed). 2012; 17:2213-2236.

5. 5. Ramshankar M, Girirajan S, Dagan O, Shankar HMR, Jalvi R, Rangasayee R, Avraham KB, Anand A. Contribution of connexin26 (GJB2) mutations and founder effcet to non-syndromic hearing loss in India. J Med Genet. 2003; 40:e68.

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Epidemiological study on nonsyndromic hearing impairment: North Karnataka, India;BLDE University Journal of Health Sciences;2023

2. Analysis of Serum Inflammatory Markers in Infants Under 6 Months of Age with Non-Syndromic Moderate and Severe Hearing Loss Associated with GJB2 Gene Mutations;Medical Science Monitor;2022-12-09

3. GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS’ SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION;Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi;2022-02-16

4. Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations;Journal of Pediatric Genetics;2021-12-14