Literature DB >> 11017065

Mutations in GJB6 cause hidrotic ectodermal dysplasia.

J Lamartine1, G Munhoz Essenfelder, Z Kibar, I Lanneluc, E Callouet, D Laoudj, G Lemaître, C Hand, S J Hayflick, J Zonana, S Antonarakis, U Radhakrishna, D P Kelsell, A L Christianson, A Pitaval, V Der Kaloustian, C Fraser, C Blanchet-Bardon, G A Rouleau, G Waksman.   

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Year:  2000        PMID： 11017065     DOI： 10.1038/79851

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  41 in total

Review 1.  Connexin mutations in skin disease and hearing loss.

Authors:  D P Kelsell; W L Di; M J Houseman
Journal:  Am J Hum Genet       Date:  2001-01-25       Impact factor: 11.025

2.  [Defective gap junctions: variability of the phenotype exemplified by connexin 26 mutations].

Authors:  J Krutmann; J O Funk; B Korge
Journal:  Hautarzt       Date:  2002-09       Impact factor: 0.751

3.  Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24.

Authors:  A Martinez-Mir; A Zlotogorski; D Londono; D Gordon; A Grunn; E Uribe; L Horev; I M Ruiz; N O Davalos; O Alayan; J Liu; T C Gilliam; J C Salas-Alanis; A M Christiano
Journal:  J Med Genet       Date:  2003-12       Impact factor: 6.318

4.  Gating of connexin 43 gap junctions by a cytoplasmic loop calmodulin binding domain.

Authors:  Qin Xu; Richard F Kopp; Yanyi Chen; Jenny J Yang; Michael W Roe; Richard D Veenstra
Journal:  Am J Physiol Cell Physiol       Date:  2012-03-14       Impact factor: 4.249

5.  A potent antagonist antibody targeting connexin hemichannels alleviates Clouston syndrome symptoms in mutant mice.

Authors:  Yuanyuan Kuang; Veronica Zorzi; Damiano Buratto; Gaia Ziraldo; Flavia Mazzarda; Chiara Peres; Chiara Nardin; Anna Maria Salvatore; Francesco Chiani; Ferdinando Scavizzi; Marcello Raspa; Min Qiang; Youjun Chu; Xiaojie Shi; Yu Li; Lili Liu; Yaru Shi; Francesco Zonta; Guang Yang; Richard A Lerner; Fabio Mammano
Journal:  EBioMedicine       Date:  2020-06-15       Impact factor: 8.143

6.  Infrequency of two deletion mutations at the DFNB1 locus in patients and controls.

Authors:  Hsiao-Yuan Tang; Monica J Basehore; Gregory L Blakey; Sandra Darilek; John S Oghalai; Benjamin B Roa; Ping Fang; Raye Lynn Alford
Journal:  Am J Med Genet A       Date:  2008-04-01       Impact factor: 2.802

Review 7.  [Genetically induced hair diseases].

Authors:  T Wiederholt; P Poblete-Gutiérrez; J Frank
Journal:  Hautarzt       Date:  2003-07-04       Impact factor: 0.751

Review 8.  Gap junctions in inherited human disease.

Authors:  Georg Zoidl; Rolf Dermietzel
Journal:  Pflugers Arch       Date:  2010-02-07       Impact factor: 3.657

Review 9.  Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.

Authors:  Emilie Hoang Dinh; Shoeb Ahmad; Qing Chang; Wenxue Tang; Benjamin Stong; Xi Lin
Journal:  Brain Res       Date:  2009-02-20       Impact factor: 3.252

Review 10.  To grow or not to grow: hair morphogenesis and human genetic hair disorders.

Authors:  Olivier Duverger; Maria I Morasso
Journal:  Semin Cell Dev Biol       Date:  2013-12-17       Impact factor: 7.727
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