283 related articles for article (PubMed ID: 11137999)
1. Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
Scott HS; Kudoh J; Wattenhofer M; Shibuya K; Berry A; Chrast R; Guipponi M; Wang J; Kawasaki K; Asakawa S; Minoshima S; Younus F; Mehdi SQ; Radhakrishna U; Papasavvas MP; Gehrig C; Rossier C; Korostishevsky M; Gal A; Shimizu N; Bonne-Tamir B; Antonarakis SE
Nat Genet; 2001 Jan; 27(1):59-63. PubMed ID: 11137999
[TBL] [Abstract][Full Text] [Related]
2. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
Masmoudi S; Antonarakis SE; Schwede T; Ghorbel AM; Gratri M; Pappasavas MP; Drira M; Elgaied-Boulila A; Wattenhofer M; Rossier C; Scott HS; Ayadi H; Guipponi M
Hum Mutat; 2001 Aug; 18(2):101-8. PubMed ID: 11462234
[TBL] [Abstract][Full Text] [Related]
3. Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
Wattenhofer M; Di Iorio MV; Rabionet R; Dougherty L; Pampanos A; Schwede T; Montserrat-Sentis B; Arbones ML; Iliades T; Pasquadibisceglie A; D'Amelio M; Alwan S; Rossier C; Dahl HH; Petersen MB; Estivill X; Gasparini P; Scott HS; Antonarakis SE
J Mol Med (Berl); 2002 Feb; 80(2):124-31. PubMed ID: 11907649
[TBL] [Abstract][Full Text] [Related]
4. Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
Ahmed ZM; Li XC; Powell SD; Riazuddin S; Young TL; Ramzan K; Ahmad Z; Luscombe S; Dhillon K; MacLaren L; Ploplis B; Shotland LI; Ives E; Riazuddin S; Friedman TB; Morell RJ; Wilcox ER
BMC Med Genet; 2004 Sep; 5():24. PubMed ID: 15447792
[TBL] [Abstract][Full Text] [Related]
5. Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3.
Lee YJ; Park D; Kim SY; Park WJ
J Med Genet; 2003 Aug; 40(8):629-31. PubMed ID: 12920079
[No Abstract] [Full Text] [Related]
6. The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
Guipponi M; Vuagniaux G; Wattenhofer M; Shibuya K; Vazquez M; Dougherty L; Scamuffa N; Guida E; Okui M; Rossier C; Hancock M; Buchet K; Reymond A; Hummler E; Marzella PL; Kudoh J; Shimizu N; Scott HS; Antonarakis SE; Rossier BC
Hum Mol Genet; 2002 Nov; 11(23):2829-36. PubMed ID: 12393794
[TBL] [Abstract][Full Text] [Related]
7. Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.
Elbracht M; Senderek J; Eggermann T; Thürmer C; Park J; Westhofen M; Zerres K
J Med Genet; 2007 Jun; 44(6):e81. PubMed ID: 17551081
[TBL] [Abstract][Full Text] [Related]
8. A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.
Smaoui N; Beltaief O; BenHamed S; M'Rad R; Maazoul F; Ouertani A; Chaabouni H; Hejtmancik JF
Invest Ophthalmol Vis Sci; 2004 Aug; 45(8):2716-21. PubMed ID: 15277496
[TBL] [Abstract][Full Text] [Related]
9. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
Bolz H; von Brederlow B; Ramírez A; Bryda EC; Kutsche K; Nothwang HG; Seeliger M; del C-Salcedó Cabrera M; Vila MC; Molina OP; Gal A; Kubisch C
Nat Genet; 2001 Jan; 27(1):108-12. PubMed ID: 11138009
[TBL] [Abstract][Full Text] [Related]
10. An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss.
Guipponi M; Toh MY; Tan J; Park D; Hanson K; Ballana E; Kwong D; Cannon PZ; Wu Q; Gout A; Delorenzi M; Speed TP; Smith RJ; Dahl HH; Petersen M; Teasdale RD; Estivill X; Park WJ; Scott HS
Hum Mutat; 2008 Jan; 29(1):130-41. PubMed ID: 17918732
[TBL] [Abstract][Full Text] [Related]
11. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.
Bitner-Glindzicz M; Lindley KJ; Rutland P; Blaydon D; Smith VV; Milla PJ; Hussain K; Furth-Lavi J; Cosgrove KE; Shepherd RM; Barnes PD; O'Brien RE; Farndon PA; Sowden J; Liu XZ; Scanlan MJ; Malcolm S; Dunne MJ; Aynsley-Green A; Glaser B
Nat Genet; 2000 Sep; 26(1):56-60. PubMed ID: 10973248
[TBL] [Abstract][Full Text] [Related]
12. Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
Kalay E; Li Y; Uzumcu A; Uyguner O; Collin RW; Caylan R; Ulubil-Emiroglu M; Kersten FF; Hafiz G; van Wijk E; Kayserili H; Rohmann E; Wagenstaller J; Hoefsloot LH; Strom TM; Nürnberg G; Baserer N; den Hollander AI; Cremers FP; Cremers CW; Becker C; Brunner HG; Nürnberg P; Karaguzel A; Basaran S; Kubisch C; Kremer H; Wollnik B
Hum Mutat; 2006 Jul; 27(7):633-9. PubMed ID: 16752389
[TBL] [Abstract][Full Text] [Related]
13. Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
Ben-Yosef T; Wattenhofer M; Riazuddin S; Ahmed ZM; Scott HS; Kudoh J; Shibuya K; Antonarakis SE; Bonne-Tamir B; Radhakrishna U; Naz S; Ahmed Z; Riazuddin S; Pandya A; Nance WE; Wilcox ER; Friedman TB; Morell RJ
J Med Genet; 2001 Jun; 38(6):396-400. PubMed ID: 11424922
[No Abstract] [Full Text] [Related]
14. Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness.
Lezirovitz K; Pardono E; de Mello Auricchio MT; de Carvalho E Silva FL; Lopes JJ; Abreu-Silva RS; Romanos J; Batissoco AC; Mingroni-Netto RC
Eur J Hum Genet; 2008 Jan; 16(1):89-96. PubMed ID: 17851452
[TBL] [Abstract][Full Text] [Related]
15. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
Cohen D; Bar-Yosef U; Levy J; Gradstein L; Belfair N; Ofir R; Joshua S; Lifshitz T; Carmi R; Birk OS
Invest Ophthalmol Vis Sci; 2007 May; 48(5):2208-13. PubMed ID: 17460281
[TBL] [Abstract][Full Text] [Related]
16. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
Zhang Q; Zulfiqar F; Riazuddin SA; Xiao X; Ahmad Z; Riazuddin S; Hejtmancik JF
Mol Vis; 2004 Nov; 10():884-9. PubMed ID: 15570217
[TBL] [Abstract][Full Text] [Related]
17. Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice.
Street VA; McKee-Johnson JW; Fonseca RC; Tempel BL; Noben-Trauth K
Nat Genet; 1998 Aug; 19(4):390-4. PubMed ID: 9697703
[TBL] [Abstract][Full Text] [Related]
18. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.
Kurima K; Peters LM; Yang Y; Riazuddin S; Ahmed ZM; Naz S; Arnaud D; Drury S; Mo J; Makishima T; Ghosh M; Menon PS; Deshmukh D; Oddoux C; Ostrer H; Khan S; Riazuddin S; Deininger PL; Hampton LL; Sullivan SL; Battey JF; Keats BJ; Wilcox ER; Friedman TB; Griffith AJ
Nat Genet; 2002 Mar; 30(3):277-84. PubMed ID: 11850618
[TBL] [Abstract][Full Text] [Related]
19. A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss.
Hilgert N; Topsakal V; van Dinther J; Offeciers E; Van de Heyning P; Van Camp G
Eur J Hum Genet; 2008 May; 16(5):593-602. PubMed ID: 18212818
[TBL] [Abstract][Full Text] [Related]
20. Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease.
Köker MY; van Leeuwen K; de Boer M; Celmeli F; Metin A; Ozgür TT; Tezcan I; Sanal O; Roos D
Eur J Clin Invest; 2009 Apr; 39(4):311-9. PubMed ID: 19292887
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
