-
1
-
-
26444617226
-
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan
-
Ahmed Z.M., et al. Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. BMC Med. Genet. 2004, 5:24.
-
(2004)
BMC Med. Genet.
, vol.5
, pp. 24
-
-
Ahmed, Z.M.1
-
2
-
-
0034983847
-
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness
-
Ben-Yosef T., et al. Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. J. Med. Genet. 2001, 38:396-400.
-
(2001)
J. Med. Genet.
, vol.38
, pp. 396-400
-
-
Ben-Yosef, T.1
-
3
-
-
0029883986
-
Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3
-
Bonne-Tamir B., et al. Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. Am. J. Hum. Genet. 1996, 58:1254-1259.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 1254-1259
-
-
Bonne-Tamir, B.1
-
4
-
-
69949118724
-
Type II transmembrane serine proteases
-
Bugge T.H., Antalis T.M., Wu Q. Type II transmembrane serine proteases. J. Biol. Chem. 2009, 284:23177-23181.
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 23177-23181
-
-
Bugge, T.H.1
Antalis, T.M.2
Wu, Q.3
-
5
-
-
84858754223
-
Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss
-
Charif M., et al. Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss. Biochem. Biophys. Res. Commun. 2012, 419:643-647.
-
(2012)
Biochem. Biophys. Res. Commun.
, vol.419
, pp. 643-647
-
-
Charif, M.1
-
6
-
-
84860491233
-
Autosomal recessive nonsyndromic deafness genes: a review
-
Duman D., Tekin M. Autosomal recessive nonsyndromic deafness genes: a review. Front. Biosci. 2012, 17:2213-2236.
-
(2012)
Front. Biosci.
, vol.17
, pp. 2213-2236
-
-
Duman, D.1
Tekin, M.2
-
7
-
-
34250807826
-
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings
-
Elbracht M., et al. Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings. J. Med. Genet. 2007, 44:e81.
-
(2007)
J. Med. Genet.
, vol.44
-
-
Elbracht, M.1
-
8
-
-
79955759599
-
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing
-
Fasquelle L., et al. Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing. J. Biol. Chem. 2011, 286:17383-17397.
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 17383-17397
-
-
Fasquelle, L.1
-
9
-
-
0036849378
-
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro
-
Guipponi M., et al. The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. Hum. Mol. Genet. 2002, 11:2829-2836.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 2829-2836
-
-
Guipponi, M.1
-
10
-
-
38149089484
-
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss
-
Guipponi M., et al. An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss. Hum. Mutat. 2008, 29:130-141.
-
(2008)
Hum. Mutat.
, vol.29
, pp. 130-141
-
-
Guipponi, M.1
-
11
-
-
28644439243
-
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing
-
Hutchin T., et al. Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing. Clin. Genet. 2005, 68:506-512.
-
(2005)
Clin. Genet.
, vol.68
, pp. 506-512
-
-
Hutchin, T.1
-
12
-
-
0036654536
-
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review
-
Kenneson A., Van Naarden Braun K., Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet. Med. 2002, 4:258-274.
-
(2002)
Genet. Med.
, vol.4
, pp. 258-274
-
-
Kenneson, A.1
Van Naarden Braun, K.2
Boyle, C.3
-
13
-
-
0042327815
-
Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3
-
Lee Y.J., Park D., Kim S.Y., Park W.J. Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3. J. Med. Genet. 2003, 40:629-631.
-
(2003)
J. Med. Genet.
, vol.40
, pp. 629-631
-
-
Lee, Y.J.1
Park, D.2
Kim, S.Y.3
Park, W.J.4
-
14
-
-
84862242742
-
Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment
-
Lee K., et al. Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. Clin. Genet. 2012, 82:56-63.
-
(2012)
Clin. Genet.
, vol.82
, pp. 56-63
-
-
Lee, K.1
-
15
-
-
0028227613
-
Nonsyndromic hearing loss: an analysis of audiograms
-
Liu X., Xu L. Nonsyndromic hearing loss: an analysis of audiograms. Ann. Otol. Rhinol. Laryngol. 1994, 103:428-433.
-
(1994)
Ann. Otol. Rhinol. Laryngol.
, vol.103
, pp. 428-433
-
-
Liu, X.1
Xu, L.2
-
16
-
-
0034910275
-
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness
-
Masmoudi S., et al. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness. Hum. Mutat. 2001, 18:101-108.
-
(2001)
Hum. Mutat.
, vol.18
, pp. 101-108
-
-
Masmoudi, S.1
-
17
-
-
84875238630
-
Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression
-
Molina L., et al. Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression. Hum. Mol. Genet. 2013, 22:1289-1299.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 1289-1299
-
-
Molina, L.1
-
18
-
-
38549096018
-
MEROPS: the peptidase database
-
Rawlings N.D., Morton F.R., Kok C.Y., Kong J., Barrett A.J. MEROPS: the peptidase database. Nucleic Acids Res. 2008, 36:D320-D325.
-
(2008)
Nucleic Acids Res.
, vol.36
-
-
Rawlings, N.D.1
Morton, F.R.2
Kok, C.Y.3
Kong, J.4
Barrett, A.J.5
-
19
-
-
84883791377
-
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations
-
(in press, Epub ahead of print)
-
Rendtorff N., et al. SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. Clin. Genet. 2013, (in press, Epub ahead of print).
-
(2013)
Clin. Genet.
-
-
Rendtorff, N.1
-
20
-
-
4043065142
-
The scavenger receptor cysteine-rich (SRCR) domain: an ancient and highly conserved protein module of the innate immune system
-
Sarrias M.R., Gronlund J., Padilla O., Madsen J., Holmskov U., Lozano F. The scavenger receptor cysteine-rich (SRCR) domain: an ancient and highly conserved protein module of the innate immune system. Crit. Rev. Immunol. 2004, 24:1-37.
-
(2004)
Crit. Rev. Immunol.
, vol.24
, pp. 1-37
-
-
Sarrias, M.R.1
Gronlund, J.2
Padilla, O.3
Madsen, J.4
Holmskov, U.5
Lozano, F.6
-
21
-
-
0035167046
-
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness
-
Scott H.S., et al. Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat. Genet. 2001, 27:59-63.
-
(2001)
Nat. Genet.
, vol.27
, pp. 59-63
-
-
Scott, H.S.1
-
22
-
-
84862279330
-
Genetic Screening of GJB2 and SLC26A4 in Korean cochlear implantees: experience of Soree Ear Clinic
-
Shin J.W., Lee S.C., Lee H.K., Park H.J. Genetic Screening of GJB2 and SLC26A4 in Korean cochlear implantees: experience of Soree Ear Clinic. Clin. Exp. Otorhinolaryngol. 2012, 5(Suppl. 1):S10-3.
-
(2012)
Clin. Exp. Otorhinolaryngol.
, vol.5
, Issue.SUPPL. 1
-
-
Shin, J.W.1
Lee, S.C.2
Lee, H.K.3
Park, H.J.4
-
23
-
-
0022259920
-
The LDL receptor gene: a mosaic of exons shared with different proteins
-
Sudhof T.C., Goldstein J.L., Brown M.S., Russell D.W. The LDL receptor gene: a mosaic of exons shared with different proteins. Science 1985, 228:815-822.
-
(1985)
Science
, vol.228
, pp. 815-822
-
-
Sudhof, T.C.1
Goldstein, J.L.2
Brown, M.S.3
Russell, D.W.4
-
24
-
-
41349122252
-
The responsible genes in Japanese deafness patients and clinical application using Invader assay
-
Usami S., et al. The responsible genes in Japanese deafness patients and clinical application using Invader assay. Acta Otolaryngol. 2008, 128:446-454.
-
(2008)
Acta Otolaryngol.
, vol.128
, pp. 446-454
-
-
Usami, S.1
-
25
-
-
0030946546
-
Nonsyndromic hearing impairment: unparalleled heterogeneity
-
Van Camp G., Willems P.J., Smith R.J. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am. J. Hum. Genet. 1997, 60:758-764.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 758-764
-
-
Van Camp, G.1
Willems, P.J.2
Smith, R.J.3
-
27
-
-
0030070163
-
Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan
-
Veske A., et al. Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum. Mol. Genet. 1996, 5:165-168.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 165-168
-
-
Veske, A.1
-
28
-
-
32044470443
-
Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population
-
Walsh T., et al. Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population. Hum. Genomics 2006, 2:203-211.
-
(2006)
Hum. Genomics
, vol.2
, pp. 203-211
-
-
Walsh, T.1
-
29
-
-
0036176041
-
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients
-
Wattenhofer M., et al. Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. J. Mol. Med. (Berl) 2002, 80:124-131.
-
(2002)
J. Mol. Med. (Berl)
, vol.80
, pp. 124-131
-
-
Wattenhofer, M.1
-
30
-
-
27544455732
-
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein
-
Wattenhofer M., et al. A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. Hum. Genet. 2005, 117:528-535.
-
(2005)
Hum. Genet.
, vol.117
, pp. 528-535
-
-
Wattenhofer, M.1
-
31
-
-
84855645034
-
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations
-
Weegerink N.J. Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. J. Assoc. Res. Otolaryngol. 2011, 12:753-766.
-
(2011)
J. Assoc. Res. Otolaryngol.
, vol.12
, pp. 753-766
-
-
Weegerink, N.J.1
-
32
-
-
11344250496
-
GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation
-
Xiao Z.A., Xie D.H. GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation. Chin. Med. J. (Engl) 2004, 117:1797-1801.
-
(2004)
Chin. Med. J. (Engl)
, vol.117
, pp. 1797-1801
-
-
Xiao, Z.A.1
Xie, D.H.2
|