Literature DB >> 19050724

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

Pio D'Adamo, Veronica Ileana Guerci, Antonella Fabretto, Flavio Faletra, Domenico Leonardo Grasso, Luca Ronfani, Marcella Montico, Marcello Morgutti, PierPaolo Guastalla, Paolo Gasparini.   

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Year:  2008        PMID： 19050724      PMCID： PMC2986169          DOI： 10.1038/ejhg.2008.225

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  14 in total

1.  Selection for deafness?

Authors:  Christian G Meyer; Geoffrey K Amedofu; Johanna M Brandner; Dieter Pohland; Christian Timmann; Rolf D Horstmann
Journal:  Nat Med       Date:  2002-12       Impact factor: 53.440

2.  Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival.

Authors:  J E A Common; W-L Di; D Davies; D P Kelsell
Journal:  J Med Genet       Date:  2004-07       Impact factor: 6.318

3.  Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.

Authors:  C Hamelmann; G K Amedofu; K Albrecht; B Muntau; A Gelhaus; G W Brobby; R D Horstmann
Journal:  Hum Mutat       Date:  2001       Impact factor: 4.878

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

Authors:  G W Brobby; B Müller-Myhsok; R D Horstmann
Journal:  N Engl J Med       Date:  1998-02-19       Impact factor: 91.245

5.  Salmonella typhi uses CFTR to enter intestinal epithelial cells.

Authors:  G B Pier; M Grout; T Zaidi; G Meluleni; S S Mueschenborn; G Banting; R Ratcliff; M J Evans; W H Colledge
Journal:  Nature       Date:  1998-05-07       Impact factor: 49.962

6.  Connexin-dependent inter-cellular communication increases invasion and dissemination of Shigella in epithelial cells.

Authors:  Guy Tran Van Nhieu; Caroline Clair; Roberto Bruzzone; Marc Mesnil; Philippe Sansonetti; Laurent Combettes
Journal:  Nat Cell Biol       Date:  2003-08       Impact factor: 28.824

7.  High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.

Authors:  P Gasparini; R Rabionet; G Barbujani; S Melçhionda; M Petersen; K Brøndum-Nielsen; A Metspalu; E Oitmaa; M Pisano; P Fortina; L Zelante; X Estivill
Journal:  Eur J Hum Genet       Date:  2000-01       Impact factor: 4.246

8.  Glucose-6-phosphate dehydrogenase deficiency inhibits in vitro growth of Plasmodium falciparum.

Authors:  E F Roth; C Raventos-Suarez; A Rinaldi; R L Nagel
Journal:  Proc Natl Acad Sci U S A       Date:  1983-01       Impact factor: 11.205

9.  Detection of epidermal thickening in GJB2 carriers with epidermal US.

Authors:  Pierpaolo Guastalla; Veronica Ileana Guerci; Antonella Fabretto; Flavio Faletra; Domenico Leonardo Grasso; Elisabetta Zocconi; Despina Stefanidou; Pio D'Adamo; Luca Ronfani; Marcella Montico; Marcello Morgutti; Paolo Gasparini
Journal:  Radiology       Date:  2009-02-03       Impact factor: 11.105

10.  Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

Authors:  L Zelante; P Gasparini; X Estivill; S Melchionda; L D'Agruma; N Govea; M Milá; M D Monica; J Lutfi; M Shohat; E Mansfield; K Delgrosso; E Rappaport; S Surrey; P Fortina
Journal:  Hum Mol Genet       Date:  1997-09       Impact factor: 6.150
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  11 in total

Review 1.  Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome.

Authors:  Noah A Levit; Gulistan Mese; Mena-George R Basaly; Thomas W White
Journal:  Biochim Biophys Acta       Date:  2011-09-10

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

Authors:  Eric R Press; Qing Shao; John J Kelly; Katrina Chin; Anton Alaga; Dale W Laird
Journal:  J Biol Chem       Date:  2017-04-20       Impact factor: 5.157

Review 3.  Defective channels lead to an impaired skin barrier.

Authors:  Diana C Blaydon; David P Kelsell
Journal:  J Cell Sci       Date:  2014-09-01       Impact factor: 5.285

4.  Gap junctions and blood-tissue barriers.

Authors:  Michelle W M Li; Dolores D Mruk; C Yan Cheng
Journal:  Adv Exp Med Biol       Date:  2012       Impact factor: 2.622

Review 5.  Inner Ear Connexin Channels: Roles in Development and Maintenance of Cochlear Function.

Authors:  Fabio Mammano
Journal:  Cold Spring Harb Perspect Med       Date:  2019-07-01       Impact factor: 6.915

Review 6.  The role of connexins in ear and skin physiology - functional insights from disease-associated mutations.

Authors:  Ji Xu; Bruce J Nicholson
Journal:  Biochim Biophys Acta       Date:  2012-07-13

7.  The emergence of human-evolutionary medical genomics.

Authors:  Bernard J Crespi
Journal:  Evol Appl       Date:  2010-10-12       Impact factor: 5.183

8.  A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families.

Authors:  Xueling Wang; Longhao Wang; Hu Peng; Tao Yang; Hao Wu
Journal:  Neural Plast       Date:  2018-04-16       Impact factor: 3.599

9.  Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study.

Authors:  Amanda Hall; Marcus Pembrey; Mark Lutman; Colin Steer; Maria Bitner-Glindzicz
Journal:  BMJ Open       Date:  2012-07-31       Impact factor: 2.692

10.  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).

Authors:  Nikolay A Barashkov; Vera G Pshennikova; Olga L Posukh; Fedor M Teryutin; Aisen V Solovyev; Leonid A Klarov; Georgii P Romanov; Nyurgun N Gotovtsev; Andrey A Kozhevnikov; Elena V Kirillina; Oksana G Sidorova; Lena M Vasilyevа; Elvira E Fedotova; Igor V Morozov; Alexander A Bondar; Natalya A Solovyevа; Sardana K Kononova; Adyum M Rafailov; Nikolay N Sazonov; Anatoliy N Alekseev; Mikhail I Tomsky; Lilya U Dzhemileva; Elza K Khusnutdinova; Sardana A Fedorova
Journal:  PLoS One       Date:  2016-05-25       Impact factor: 3.240
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