-
2
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
-
Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997;387:80-3.
-
(1997)
Nature
, vol.387
, pp. 80-83
-
-
Kelsell, D.P.1
Dunlop, J.2
Stevens, H.P.3
Lench, N.J.4
Liang, J.N.5
Parry, G.6
Mueller, R.F.7
Leigh, I.M.8
-
3
-
-
0038270170
-
Connexin 26 35delG does not represent a mutational hotspot
-
Rothrock CR, Murgia A, Sartorato EL, Leonardi E, Wei S, Lebeis SL, Yu LE, Elfenbein JL, Fisher RA, Friderici KH. Connexin 26 35delG does not represent a mutational hotspot. Hum Genet 2003;113:18-23.
-
(2003)
Hum Genet
, vol.113
, pp. 18-23
-
-
Rothrock, C.R.1
Murgia, A.2
Sartorato, E.L.3
Leonardi, E.4
Wei, S.5
Lebeis, S.L.6
Yu, L.E.7
Elfenbein, J.L.8
Fisher, R.A.9
Friderici, K.H.10
-
4
-
-
0043280848
-
Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India
-
RamShankar M, Girirajan S, Dagan O, Ravi Shankar HM, Jalvi R, Rangasayee R, Avraham KB, Anand A. Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. J Med Genet 2003;40:e68.
-
(2003)
J Med Genet
, vol.40
-
-
RamShankar, M.1
Girirajan, S.2
Dagan, O.3
Ravi Shankar, H.M.4
Jalvi, R.5
Rangasayee, R.6
Avraham, K.B.7
Anand, A.8
-
5
-
-
10744230689
-
Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians
-
Yan D, Park HJ, Ouyang XM, Pandya A, Doi K, Erdenetungalag R, Du LL, Matsushiro N, Nance WE, Griffith AJ, Liu XZ. Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians. Hum Genet 2003;114:44-50.
-
(2003)
Hum Genet
, vol.114
, pp. 44-50
-
-
Yan, D.1
Park, H.J.2
Ouyang, X.M.3
Pandya, A.4
Doi, K.5
Erdenetungalag, R.6
Du, L.L.7
Matsushiro, N.8
Nance, W.E.9
Griffith, A.J.10
Liu, X.Z.11
-
6
-
-
0035232752
-
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana
-
Hamelmann C, Amedofu GK, Albrecht K, Muntau B, Gelhaus A, Brobby GW, Horstmann RD. Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. Hum Mutat 2001;18:84-5.
-
(2001)
Hum Mutat
, vol.18
, pp. 84-85
-
-
Hamelmann, C.1
Amedofu, G.K.2
Albrecht, K.3
Muntau, B.4
Gelhaus, A.5
Brobby, G.W.6
Horstmann, R.D.7
-
7
-
-
0036887084
-
Selection for deafness?
-
Meyer CG, Amedofu GK, Brandner JM, Pohland D, Timmann C, Horstmann RD. Selection for deafness? Nat Med 2002;8:1332-3.
-
(2002)
Nat Med
, vol.8
, pp. 1332-1333
-
-
Meyer, C.G.1
Amedofu, G.K.2
Brandner, J.M.3
Pohland, D.4
Timmann, C.5
Horstmann, R.D.6
-
8
-
-
0037715161
-
Connexin gene pathology
-
Richard G. Connexin gene pathology. Clin Exp Dermatol 2003;28:397-409.
-
(2003)
Clin Exp Dermatol
, vol.28
, pp. 397-409
-
-
Richard, G.1
-
9
-
-
0037101843
-
Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations
-
Di WL, Monypenny J, Common JE, Kennedy CT, Holland KA, Leigh IM, Rugg EL, Zicha D, Kelsell DP. Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations. Hum Mol Genet 2002;11:2005-14.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2005-2014
-
-
Di, W.L.1
Monypenny, J.2
Common, J.E.3
Kennedy, C.T.4
Holland, K.A.5
Leigh, I.M.6
Rugg, E.L.7
Zicha, D.8
Kelsell, D.P.9
-
10
-
-
0043198046
-
Connexin-dependent inter-cellular communication increases invasion and dissemination of Shigella in epithelial cells
-
Tran Van Nhieu G, Clair C, Bruzzone R, Mesnil M, Sansonetti P, Combettes L. Connexin-dependent inter-cellular communication increases invasion and dissemination of Shigella in epithelial cells. Nat Cell Biol 2003;5:720-6.
-
(2003)
Nat Cell Biol
, vol.5
, pp. 720-726
-
-
Tran Van Nhieu, G.1
Clair, C.2
Bruzzone, R.3
Mesnil, M.4
Sansonetti, P.5
Combettes, L.6
-
11
-
-
0032492855
-
Salmonella typhi uses CFTR to enter intestinal epithelial cells
-
Pier GB, Grout M, Zaidi T, Meluleni G, Mueschenborn SS, Banting G, Ratcliff R, Evans MJ, Colledge WH. Salmonella typhi uses CFTR to enter intestinal epithelial cells. Nature 1998;393:79-82.
-
(1998)
Nature
, vol.393
, pp. 79-82
-
-
Pier, G.B.1
Grout, M.2
Zaidi, T.3
Meluleni, G.4
Mueschenborn, S.S.5
Banting, G.6
Ratcliff, R.7
Evans, M.J.8
Colledge, W.H.9
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