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Literature DB >> 9471561

Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa.

G W Brobby, B Müller-Myhsok, R D Horstmann.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：
Connexins
Connexin 26

Year: 1998 PMID： 9471561 DOI： 10.1056/NEJM199802193380813

Source DB: PubMed Journal: N Engl J Med ISSN： 0028-4793 Impact factor: 91.245

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Cited

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51 in total

1. Haplotype Diversity and Reconstruction of Ancestral Haplotype Associated with the c.35delG Mutation in the GJB2 (Cx26) Gene among the Volgo-Ural Populations of Russia.

Authors: L U Dzhemileva; O L Posukh; N A Barashkov; S A Fedorova; F M Teryutin; V L Akhmetova; I M Khidiyatova; R I Khusainova; S L Lobov; E K Khusnutdinova
Journal: Acta Naturae Date: 2011-07 Impact factor: 1.845

2. Prevalent connexin 26 gene (GJB2) mutations in Japanese.

Authors: S Abe; S Usami; H Shinkawa; P M Kelley; W J Kimberling
Journal: J Med Genet Date: 2000-01 Impact factor: 6.318

3. Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?

Authors: Pio D'Adamo; Veronica Ileana Guerci; Antonella Fabretto; Flavio Faletra; Domenico Leonardo Grasso; Luca Ronfani; Marcella Montico; Marcello Morgutti; PierPaolo Guastalla; Paolo Gasparini
Journal: Eur J Hum Genet Date: 2008-12-03 Impact factor: 4.246

Review 4. African genetic diversity and adaptation inform a precision medicine agenda.

Authors: Luisa Pereira; Leon Mutesa; Paulina Tindana; Michèle Ramsay
Journal: Nat Rev Genet Date: 2021-01-11 Impact factor: 53.242

5. Lower carrier rate of GJB2 W24X ancestral Indian mutation in Roma samples from Hungary: implication for public health intervention.

Authors: Csilla Sipeky; Petra Matyas; Marton Melegh; Ingrid Janicsek; Renata Szalai; Istvan Szabo; Reka Varnai; Greta Tarlos; Alma Ganczer; Bela Melegh
Journal: Mol Biol Rep Date: 2014-06-27 Impact factor: 2.316

6. GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals.

Authors: Elif Baysal; Yildirim A Bayazit; Serdar Ceylaner; Necat Alatas; Buket Donmez; Gulay Ceylaner; Imran San; Baki Korkmaz; Akin Yilmaz; Adnan Menevse; Senay Altunyay; Bulent Gunduz; Nebil Goksu; Ahmet Arslan; Abdullah Ekmekci
Journal: J Genet Date: 2008-04 Impact factor: 1.166

Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa.

1. Haplotype Diversity and Reconstruction of Ancestral Haplotype Associated with the c.35delG Mutation in the GJB2 (Cx26) Gene among the Volgo-Ural Populations of Russia.

2. Prevalent connexin 26 gene (GJB2) mutations in Japanese.

3. Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?

Review 4. African genetic diversity and adaptation inform a precision medicine agenda.

5. Lower carrier rate of GJB2 W24X ancestral Indian mutation in Roma samples from Hungary: implication for public health intervention.

6. GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals.

7. Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss.

8. Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population.

9. Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients.

10. Construction of a DNA chip for screening of genetic hearing loss.