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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 32866991)

  • 41. The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome.
    Schütz M; Auth T; Gehrt A; Bosen F; Körber I; Strenzke N; Moser T; Willecke K
    Hum Mol Genet; 2011 Jan; 20(1):28-39. PubMed ID: 20926451
    [TBL] [Abstract][Full Text] [Related]  

  • 42. An unusual mucocutaneous syndrome with sensorineural deafness due to connexin 26 mutations.
    Ibáñez MM; Alcalde MM; Jiménez MR; Muñoz MD; Díez-Delgado FJ
    Pediatr Dermatol; 2013; 30(6):e138-42. PubMed ID: 23442195
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome.
    Sánchez HA; Mese G; Srinivas M; White TW; Verselis VK
    J Gen Physiol; 2010 Jul; 136(1):47-62. PubMed ID: 20584891
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss.
    Sanchez HA; Verselis VK
    Front Cell Neurosci; 2014; 8():354. PubMed ID: 25386120
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Cx26 gene mutations in idiopathic progressive hearing loss.
    Ravecca F; Berrettini S; Forli F; Marcaccini M; Casani A; Baldinotti F; Fogli A; Siciliano G; Simi P
    J Otolaryngol; 2005 Apr; 34(2):126-34. PubMed ID: 16076412
    [TBL] [Abstract][Full Text] [Related]  

  • 46. 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]  

  • 47. Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss.
    Erbe CB; Harris KC; Runge-Samuelson CL; Flanary VA; Wackym PA
    Laryngoscope; 2004 Apr; 114(4):607-11. PubMed ID: 15064611
    [TBL] [Abstract][Full Text] [Related]  

  • 48. KID syndrome in a Malaysian child with identification of novel heterozygous missense mutation GJB2 c.581T>A(p. 194Phe>Tyr).
    Tang MM; Surana U; Leong KF; Pramano ZAD
    Int J Dermatol; 2021 Jul; 60(7):e288-e290. PubMed ID: 33728648
    [No Abstract]   [Full Text] [Related]  

  • 49. [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]  

  • 50. A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E.
    Jonard L; Feldmann D; Parsy C; Freitag S; Sinico M; Koval C; Grati M; Couderc R; Denoyelle F; Bodemer C; Marlin S; Hadj-Rabia S
    Eur J Med Genet; 2008; 51(1):35-43. PubMed ID: 18024254
    [TBL] [Abstract][Full Text] [Related]  

  • 51. GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.
    Janecke AR; Hennies HC; Günther B; Gansl G; Smolle J; Messmer EM; Utermann G; Rittinger O
    Am J Med Genet A; 2005 Mar; 133A(2):128-31. PubMed ID: 15633193
    [TBL] [Abstract][Full Text] [Related]  

  • 52. The D50N mutation and syndromic deafness: altered Cx26 hemichannel properties caused by effects on the pore and intersubunit interactions.
    Sanchez HA; Villone K; Srinivas M; Verselis VK
    J Gen Physiol; 2013 Jul; 142(1):3-22. PubMed ID: 23797419
    [TBL] [Abstract][Full Text] [Related]  

  • 53. 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]  

  • 54. [Pseudodominants of two recessive connexin mutations in non-syndromic sensorineural hearing loss?].
    Birkenhäger R; Zimmer AJ; Maier W; Schipper J
    Laryngorhinootologie; 2006 Mar; 85(3):191-6. PubMed ID: 16547895
    [TBL] [Abstract][Full Text] [Related]  

  • 55. A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death.
    Easton JA; Albuloushi AK; Kamps MAF; Brouns GHMR; Broers JLV; Coull BJ; Oji V; van Geel M; van Steensel MAM; Martin PE
    Exp Dermatol; 2019 Oct; 28(10):1106-1113. PubMed ID: 29570224
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness.
    Gerido DA; DeRosa AM; Richard G; White TW
    Am J Physiol Cell Physiol; 2007 Jul; 293(1):C337-45. PubMed ID: 17428836
    [TBL] [Abstract][Full Text] [Related]  

  • 57. GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation.
    Xiao ZA; Xie DH
    Chin Med J (Engl); 2004 Dec; 117(12):1797-801. PubMed ID: 15603707
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Ichthyosis follicularis syndromes in patients with mutations in GJB2.
    Youssefian L; Naji M; Park JS; Rajabi F; Abdollahimajd F; Mahmoudi H; Kamyab-Hesari K; Ghalamkarpour F; Zabihi M; Teimoorian M; Youssefian L; Zeinali S; Vahidnezhad H; Uitto J
    Clin Exp Dermatol; 2022 Aug; 47(8):1561-1566. PubMed ID: 35396755
    [TBL] [Abstract][Full Text] [Related]  

  • 59. A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.
    de Zwart-Storm EA; Hamm H; Stoevesandt J; Steijlen PM; Martin PE; van Geel M; van Steensel MA
    J Med Genet; 2008 Mar; 45(3):161-6. PubMed ID: 17993581
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome.
    Wonkam A; Noubiap JJ; Bosch J; Dandara C; Toure GB
    BMC Med Genet; 2013 Aug; 14():81. PubMed ID: 23924173
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.