메뉴 건너뛰기




Volumn 47, Issue 5, 2008, Pages 443-447

Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ANTIINFECTIVE AGENT; CLOTRIMAZOLE; CONNEXIN 26; GENOMIC DNA; GUANINE; KERATOLYTIC AGENT; LIQUID NITROGEN;

EID: 42449119310     PISSN: 00119059     EISSN: 13654632     Source Type: Journal    
DOI: 10.1111/j.1365-4632.2008.03603.x     Document Type: Article
Times cited : (14)

References (16)
  • 2
    • 18344395853 scopus 로고    scopus 로고
    • Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome
    • Richard G, Rouan F, Willoughby CE, et al. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet 2002; 70: 1341-1348.
    • (2002) Am J Hum Genet , vol.70 , pp. 1341-1348
    • Richard, G.1    Rouan, F.2    Willoughby, C.E.3
  • 3
    • 0030001734 scopus 로고    scopus 로고
    • Keratitis, ichthyosis, and deafness (KID syndrome): Review of the literature and proposal of a new terminology
    • Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, et al. Keratitis, ichthyosis, and deafness (KID syndrome): Review of the literature and proposal of a new terminology. Pediatr Dermatol 1996; 13: 105-113.
    • (1996) Pediatr Dermatol , vol.13 , pp. 105-113
    • Caceres-Rios, H.1    Tamayo-Sanchez, L.2    Duran-Mckinster, C.3
  • 4
    • 0025033635 scopus 로고
    • Familial occurrence of KID (keratitis, ichthyosis, deafness) syndrome. Case reports of a mother and daughter
    • Nazzaro V, Blanchet-Bardon C, Lorette G, et al. Familial occurrence of KID (keratitis, ichthyosis, deafness) syndrome. Case reports of a mother and daughter. J Am Acad Dermatol 1990; 23: 385-388.
    • (1990) J Am Acad Dermatol , vol.23 , pp. 385-388
    • Nazzaro, V.1    Blanchet-Bardon, C.2    Lorette, G.3
  • 5
    • 16444363701 scopus 로고    scopus 로고
    • KID syndrome: Report of a Scandinavian patient with connexin-26 gene mutation
    • Bygum A, Betz RC, Kragballe K, et al. KID syndrome: Report of a Scandinavian patient with connexin-26 gene mutation. Acta Derm Venereol 2005; 85: 152-155.
    • (2005) Acta Derm Venereol , vol.85 , pp. 152-155
    • Bygum, A.1    Betz, R.C.2    Kragballe, K.3
  • 6
    • 0037565175 scopus 로고    scopus 로고
    • Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome
    • Yotsumoto S, Hashiguchi T, Chen X, et al. Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. Br J Dermatol 2003; 148: 649-653.
    • (2003) Br J Dermatol , vol.148 , pp. 649-653
    • Yotsumoto, S.1    Hashiguchi, T.2    Chen, X.3
  • 8
    • 0036230429 scopus 로고    scopus 로고
    • A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome
    • van Steensel MAM, van Geel M, Nahuys M, et al. A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. J Invest Dermatol 2002; 118: 724-727.
    • (2002) J Invest Dermatol , vol.118 , pp. 724-727
    • van Steensel, M.A.M.1    van Geel, M.2    Nahuys, M.3
  • 9
    • 33750603199 scopus 로고    scopus 로고
    • DNA sequence analysis of GJB2, encoding Connexin 26: Observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls
    • Tang H, Fang P, Ward PA et al. DNA sequence analysis of GJB2, encoding Connexin 26: Observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. Am J Med Genet 2006; 140A: 2401-2415.
    • (2006) Am J Med Genet , vol.140 A , pp. 2401-2415
    • Tang, H.1    Fang, P.2    Ward, P.A.3
  • 10
    • 0032498942 scopus 로고    scopus 로고
    • The pattern of disulfide linkages in the extracellular loop regions of connexin 32 suggests a model for the docking interface of gap junctions
    • Foote CI, Zhou L. Zhu X, et al. The pattern of disulfide linkages in the extracellular loop regions of connexin 32 suggests a model for the docking interface of gap junctions. J Cell Biol 1998; 140: 1187-1197.
    • (1998) J Cell Biol , vol.140 , pp. 1187-1197
    • Foote, C.I.1    Zhou, L.2    Zhu, X.3
  • 11
    • 0035704411 scopus 로고    scopus 로고
    • Emerging issues of connexin channels: Biophysics fills the gap
    • Harris AL. Emerging issues of connexin channels: Biophysics fills the gap. Q Rev Biophys 2001; 34: 325-472.
    • (2001) Q Rev Biophys , vol.34 , pp. 325-472
    • Harris, A.L.1
  • 12
    • 0042386241 scopus 로고    scopus 로고
    • Sequence and phylogenetic analyses of 4 TMS junctional proteins of animals: Connexins, innexins, claudins and occludins
    • Hua VB, Chang AB, Tchieu JH, et al. Sequence and phylogenetic analyses of 4 TMS junctional proteins of animals: Connexins, innexins, claudins and occludins. J Membr Biol 2003; 194: 59-76.
    • (2003) J Membr Biol , vol.194 , pp. 59-76
    • Hua, V.B.1    Chang, A.B.2    Tchieu, J.H.3
  • 13
    • 0036164879 scopus 로고    scopus 로고
    • Auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndrome
    • Szymco-Bennett YM, Russell LJ, Bale SJ, et al. Auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndrome. Laryngoscope 2002; 112: 272-280.
    • (2002) Laryngoscope , vol.112 , pp. 272-280
    • Szymco-Bennett, Y.M.1    Russell, L.J.2    Bale, S.J.3
  • 14
    • 33845508247 scopus 로고    scopus 로고
    • Temporal bone imaging in GJB2 deafness
    • Propst EJ, Blaser S, Stockley TL, et al. Temporal bone imaging in GJB2 deafness. Laryngoscope 2006; 116: 2178-2186.
    • (2006) Laryngoscope , vol.116 , pp. 2178-2186
    • Propst, E.J.1    Blaser, S.2    Stockley, T.L.3
  • 15
    • 13444259601 scopus 로고    scopus 로고
    • Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome
    • Messmer EM, Kenyon KR, Rittinger O, et al. Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome. Ophthalmology 2005; 112: e1-e6.
    • (2005) Ophthalmology , vol.112
    • Messmer, E.M.1    Kenyon, K.R.2    Rittinger, O.3
  • 16
    • 0038701033 scopus 로고    scopus 로고
    • De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome
    • Alvarez A, del Castillo I, Pera A, et al. De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome. Am J Med Genet Part A 2003; 117: 89-91.
    • (2003) Am J Med Genet Part A , vol.117 , pp. 89-91
    • Alvarez, A.1    del Castillo, I.2    Pera, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.