448 related articles for article (PubMed ID: 11912510)
1. 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]
2. 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]
3. 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]
4. Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss.
Terrinoni A; Codispoti A; Serra V; Bruno E; Didona B; Paradisi M; Nisticò S; Campione E; Napolitano B; Diluvio L; Melino G
Biochem Biophys Res Commun; 2010 Apr; 395(1):25-30. PubMed ID: 20307501
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation.
Terrinoni A; Codispoti A; Serra V; Didona B; Bruno E; Nisticò R; Giustizieri M; Alessandrini M; Campione E; Melino G
Biochem Biophys Res Commun; 2010 Apr; 394(4):909-14. PubMed ID: 20230788
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. [Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome].
Binder B; Hennies HC; Kraschl R; Smolle J
J Dtsch Dermatol Ges; 2005 Feb; 3(2):105-8. PubMed ID: 16351012
[TBL] [Abstract][Full Text] [Related]
11. A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?
Lazic T; Horii KA; Richard G; Wasserman DI; Antaya RJ
Pediatr Dermatol; 2008; 25(5):535-40. PubMed ID: 18950394
[TBL] [Abstract][Full Text] [Related]
12. Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome.
Griffith AJ; Yang Y; Pryor SP; Park HJ; Jabs EW; Nadol JB; Russell LJ; Wasserman DI; Richard G; Adams JC; Merchant SN
Laryngoscope; 2006 Aug; 116(8):1404-8. PubMed ID: 16885744
[TBL] [Abstract][Full Text] [Related]
13. HID and KID syndromes are associated with the same connexin 26 mutation.
van Geel M; van Steensel MA; Küster W; Hennies HC; Happle R; Steijlen PM; König A
Br J Dermatol; 2002 Jun; 146(6):938-42. PubMed ID: 12072059
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26.
Todt I; Mazereeuw-Hautier J; Binder B; Willems PJ
Clin Genet; 2009 Oct; 76(4):404-8. PubMed ID: 19793313
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Mutation of GJB2 in a Chinese patient with keratitis-ichthyosis-deafness syndrome and brain malformation.
Zhang XB; Wei SC; Li CX; Xu X; He YQ; Luo Q; Li J; Wang YF
Clin Exp Dermatol; 2009 Apr; 34(3):309-13. PubMed ID: 19175781
[TBL] [Abstract][Full Text] [Related]
19. The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity.
Mhaske PV; Levit NA; Li L; Wang HZ; Lee JR; Shuja Z; Brink PR; White TW
Am J Physiol Cell Physiol; 2013 Jun; 304(12):C1150-8. PubMed ID: 23447037
[TBL] [Abstract][Full Text] [Related]
20. Altered cellular localization and hemichannel activities of KID syndrome associated connexin26 I30N and D50Y mutations.
Aypek H; Bay V; Meşe G
BMC Cell Biol; 2016 Feb; 17():5. PubMed ID: 26831144
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]