249 related articles for article (PubMed ID: 24482543)
1. Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.
Santos-Cortez RL; Lee K; Giese AP; Ansar M; Amin-Ud-Din M; Rehn K; Wang X; Aziz A; Chiu I; Hussain Ali R; Smith JD; ; Shendure J; Bamshad M; Nickerson DA; Ahmed ZM; Ahmad W; Riazuddin S; Leal SM
Hum Mol Genet; 2014 Jun; 23(12):3289-98. PubMed ID: 24482543
[TBL] [Abstract][Full Text] [Related]
2. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Borck G; Ur Rehman A; Lee K; Pogoda HM; Kakar N; von Ameln S; Grillet N; Hildebrand MS; Ahmed ZM; Nürnberg G; Ansar M; Basit S; Javed Q; Morell RJ; Nasreen N; Shearer AE; Ahmad A; Kahrizi K; Shaikh RS; Ali RA; Khan SN; Goebel I; Meyer NC; Kimberling WJ; Webster JA; Stephan DA; Schiller MR; Bahlo M; Najmabadi H; Gillespie PG; Nürnberg P; Wollnik B; Riazuddin S; Smith RJ; Ahmad W; Müller U; Hammerschmidt M; Friedman TB; Riazuddin S; Leal SM; Ahmad J; Kubisch C
Am J Hum Genet; 2011 Feb; 88(2):127-37. PubMed ID: 21255762
[TBL] [Abstract][Full Text] [Related]
3. Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.
Santos-Cortez RL; Lee K; Azeem Z; Antonellis PJ; Pollock LM; Khan S; Irfanullah ; Andrade-Elizondo PB; Chiu I; Adams MD; Basit S; Smith JD; ; Nickerson DA; McDermott BM; Ahmad W; Leal SM
Am J Hum Genet; 2013 Jul; 93(1):132-40. PubMed ID: 23768514
[TBL] [Abstract][Full Text] [Related]
4. Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
Huebner AK; Gandia M; Frommolt P; Maak A; Wicklein EM; Thiele H; Altmüller J; Wagner F; Viñuela A; Aguirre LA; Moreno F; Maier H; Rau I; Giesselmann S; Nürnberg G; Gal A; Nürnberg P; Hübner CA; del Castillo I; Kurth I
Am J Hum Genet; 2011 May; 88(5):621-7. PubMed ID: 21549336
[TBL] [Abstract][Full Text] [Related]
5. Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.
Parzefall T; Shivatzki S; Lenz DR; Rathkolb B; Ushakov K; Karfunkel D; Shapira Y; Wolf M; Mohr M; Wolf E; Sabrautzki S; de Angelis MH; Frydman M; Brownstein Z; Avraham KB
Hum Mutat; 2013 Aug; 34(8):1102-10. PubMed ID: 23606368
[TBL] [Abstract][Full Text] [Related]
6. Syntaxin 4 is essential for hearing in human and zebrafish.
Schrauwen I; Ghaffar A; Bharadwaj T; Shah K; Rehman S; Acharya A; Liaqat K; Lin NS; Everard JL; Khan A; Ahmed ZM; Ahmad W; Riazuddin S; Leal SM
Hum Mol Genet; 2023 Mar; 32(7):1184-1192. PubMed ID: 36355422
[TBL] [Abstract][Full Text] [Related]
7. THOC1 deficiency leads to late-onset nonsyndromic hearing loss through p53-mediated hair cell apoptosis.
Zhang L; Gao Y; Zhang R; Sun F; Cheng C; Qian F; Duan X; Wei G; Sun C; Pang X; Chen P; Chai R; Yang T; Wu H; Liu D
PLoS Genet; 2020 Aug; 16(8):e1008953. PubMed ID: 32776944
[TBL] [Abstract][Full Text] [Related]
8. Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6.
Mitchem KL; Hibbard E; Beyer LA; Bosom K; Dootz GA; Dolan DF; Johnson KR; Raphael Y; Kohrman DC
Hum Mol Genet; 2002 Aug; 11(16):1887-98. PubMed ID: 12140191
[TBL] [Abstract][Full Text] [Related]
9. NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss.
Salazar-Silva R; Dantas VLG; Alves LU; Batissoco AC; Oiticica J; Lawrence EA; Kawafi A; Yang Y; Nicastro FS; Novaes BC; Hammond C; Kague E; Mingroni-Netto RC
Hum Mol Genet; 2021 Jan; 29(22):3691-3705. PubMed ID: 33326993
[TBL] [Abstract][Full Text] [Related]
10. Inner Ear and Muscle Developmental Defects in Smpx-Deficient Zebrafish Embryos.
Ghilardi A; Diana A; Bacchetta R; Santo N; Ascagni M; Prosperi L; Del Giacco L
Int J Mol Sci; 2021 Jun; 22(12):. PubMed ID: 34204426
[TBL] [Abstract][Full Text] [Related]
11. HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.
Azaiez H; Decker AR; Booth KT; Simpson AC; Shearer AE; Huygen PL; Bu F; Hildebrand MS; Ranum PT; Shibata SB; Turner A; Zhang Y; Kimberling WJ; Cornell RA; Smith RJ
PLoS Genet; 2015 Mar; 11(3):e1005137. PubMed ID: 25816005
[TBL] [Abstract][Full Text] [Related]
12. Temporal coupling of cyclic AMP and Ca/calmodulin-stimulated adenylyl cyclase to the circadian clock in chick retinal photoreceptor cells.
Chaurasia SS; Haque R; Pozdeyev N; Jackson CR; Iuvone PM
J Neurochem; 2006 Nov; 99(4):1142-50. PubMed ID: 16981891
[TBL] [Abstract][Full Text] [Related]
13. MicroRNA gene expression in the mouse inner ear.
Weston MD; Pierce ML; Rocha-Sanchez S; Beisel KW; Soukup GA
Brain Res; 2006 Sep; 1111(1):95-104. PubMed ID: 16904081
[TBL] [Abstract][Full Text] [Related]
14. An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans.
Jaworek TJ; Richard EM; Ivanova AA; Giese AP; Choo DI; Khan SN; Riazuddin S; Kahn RA; Riazuddin S
PLoS Genet; 2013; 9(9):e1003774. PubMed ID: 24039609
[TBL] [Abstract][Full Text] [Related]
15. ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.
Diaz-Horta O; Abad C; Sennaroglu L; Foster J; DeSmidt A; Bademci G; Tokgoz-Yilmaz S; Duman D; Cengiz FB; Grati M; Fitoz S; Liu XZ; Farooq A; Imtiaz F; Currall BB; Morton CC; Nishita M; Minami Y; Lu Z; Walz K; Tekin M
Proc Natl Acad Sci U S A; 2016 May; 113(21):5993-8. PubMed ID: 27162350
[TBL] [Abstract][Full Text] [Related]
16.
Trouillet A; Miller KK; George SS; Wang P; Ali NE; Ricci A; Grillet N
J Neurosci; 2021 Apr; 41(15):3331-3343. PubMed ID: 33707295
[TBL] [Abstract][Full Text] [Related]
17. OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
Thoenes M; Zimmermann U; Ebermann I; Ptok M; Lewis MA; Thiele H; Morlot S; Hess MM; Gal A; Eisenberger T; Bergmann C; Nürnberg G; Nürnberg P; Steel KP; Knipper M; Bolz HJ
Orphanet J Rare Dis; 2015 Feb; 10():15. PubMed ID: 25759012
[TBL] [Abstract][Full Text] [Related]
18. Dopamine D₄ receptor activation controls circadian timing of the adenylyl cyclase 1/cyclic AMP signaling system in mouse retina.
Jackson CR; Chaurasia SS; Hwang CK; Iuvone PM
Eur J Neurosci; 2011 Jul; 34(1):57-64. PubMed ID: 21676039
[TBL] [Abstract][Full Text] [Related]
19. Stereocilia defects in the sensory hair cells of the inner ear in mice deficient in integrin alpha8beta1.
Littlewood Evans A; Müller U
Nat Genet; 2000 Apr; 24(4):424-8. PubMed ID: 10742111
[TBL] [Abstract][Full Text] [Related]
20. A nonsense mutation in the gene encoding a zebrafish myosin VI isoform causes defects in hair-cell mechanotransduction.
Kappler JA; Starr CJ; Chan DK; Kollmar R; Hudspeth AJ
Proc Natl Acad Sci U S A; 2004 Aug; 101(35):13056-61. PubMed ID: 15317943
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
