These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
365 related articles for article (PubMed ID: 15140211)
1. Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. Jan AY; Amin S; Ratajczak P; Richard G; Sybert VP J Invest Dermatol; 2004 May; 122(5):1108-13. PubMed ID: 15140211 [TBL] [Abstract][Full Text] [Related]
2. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Richard G; Rouan F; Willoughby CE; Brown N; Chung P; Ryynänen M; Jabs EW; Bale SJ; DiGiovanna JJ; Uitto J; Russell L Am J Hum Genet; 2002 May; 70(5):1341-8. PubMed ID: 11912510 [TBL] [Abstract][Full Text] [Related]
3. Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43. García IE; Maripillán J; Jara O; Ceriani R; Palacios-Muñoz A; Ramachandran J; Olivero P; Perez-Acle T; González C; Sáez JC; Contreras JE; Martínez AD J Invest Dermatol; 2015 May; 135(5):1338-1347. PubMed ID: 25625422 [TBL] [Abstract][Full Text] [Related]
4. A novel dominant and a de novo mutation in the GJB2 gene (connexin-26) cause keratitis-ichthyosis-deafness syndrome: implication for cochlear implantation. Arndt S; Aschendorff A; Schild C; Beck R; Maier W; Laszig R; Birkenhäger R Otol Neurotol; 2010 Feb; 31(2):210-5. PubMed ID: 20101161 [TBL] [Abstract][Full Text] [Related]
5. A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome. Koppelhus U; Tranebjaerg L; Esberg G; Ramsing M; Lodahl M; Rendtorff ND; Olesen HV; Sommerlund M Clin Exp Dermatol; 2011 Mar; 36(2):142-8. PubMed ID: 20846357 [TBL] [Abstract][Full Text] [Related]
6. Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics. Kutkowska-Kaźmierczak A; Niepokój K; Wertheim-Tysarowska K; Giza A; Mordasewicz-Goliszewska M; Bal J; Obersztyn E J Appl Genet; 2015 Aug; 56(3):329-37. PubMed ID: 25575739 [TBL] [Abstract][Full Text] [Related]
7. Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin. Bondeson ML; Nyström AM; Gunnarsson U; Vahlquist A Acta Derm Venereol; 2006; 86(6):503-8. PubMed ID: 17106596 [TBL] [Abstract][Full Text] [Related]
8. A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome. Neoh CY; Chen H; Ng SK; Lane EB; Common JE Int J Dermatol; 2009 Oct; 48(10):1078-81. PubMed ID: 19785089 [TBL] [Abstract][Full Text] [Related]
9. Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss. Kelly B; Lozano A; Altenberg G; Makishima T Int J Dermatol; 2008 May; 47(5):443-7. PubMed ID: 18412859 [TBL] [Abstract][Full Text] [Related]
10. Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss. Nemoto-Hasebe I; Akiyama M; Kudo S; Ishiko A; Tanaka A; Arita K; Shimizu H Br J Dermatol; 2009 Aug; 161(2):452-5. PubMed ID: 19416251 [TBL] [Abstract][Full Text] [Related]
11. Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. Yotsumoto S; Hashiguchi T; Chen X; Ohtake N; Tomitaka A; Akamatsu H; Matsunaga K; Shiraishi S; Miura H; Adachi J; Kanzaki T Br J Dermatol; 2003 Apr; 148(4):649-53. PubMed ID: 12752120 [TBL] [Abstract][Full Text] [Related]
12. Conserved glycine at position 45 of major cochlear connexins constitutes a vital component of the Ca²⁺ sensor for gating of gap junction hemichannels. Zhang Y; Hao H Biochem Biophys Res Commun; 2013 Jul; 436(3):424-9. PubMed ID: 23756814 [TBL] [Abstract][Full Text] [Related]
13. Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings. Lazic T; Li Q; Frank M; Uitto J; Zhou LH Pediatr Dermatol; 2012; 29(3):349-57. PubMed ID: 22011219 [TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 26810281 [TBL] [Abstract][Full Text] [Related]
15. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. Richard G; Brown N; Ishida-Yamamoto A; Krol A J Invest Dermatol; 2004 Nov; 123(5):856-63. PubMed ID: 15482471 [TBL] [Abstract][Full Text] [Related]