These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment. Zhang L; Hu L; Chai Y; Pang X; Yang T; Wu H Hum Mutat; 2014 Jul; 35(7):814-8. PubMed ID: 24729547 [TBL] [Abstract][Full Text] [Related]
5. Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. Rehman AU; Santos-Cortez RL; Morell RJ; Drummond MC; Ito T; Lee K; Khan AA; Basra MA; Wasif N; Ayub M; Ali RA; Raza SI; ; Nickerson DA; Shendure J; Bamshad M; Riazuddin S; Billington N; Khan SN; Friedman PL; Griffith AJ; Ahmad W; Riazuddin S; Leal SM; Friedman TB Am J Hum Genet; 2014 Jan; 94(1):144-52. PubMed ID: 24387994 [TBL] [Abstract][Full Text] [Related]
6. Case Report: Novel mutations in Banuelos E; Ramsey K; Belnap N; Krishnan M; Balak C; Szelinger S; Siniard AL; Russell M; Richholt R; De Both M; Piras I; Naymik M; Claasen AM; Rangasamy S; Huentelman MJ; Craig DW; Campeau PM; Narayanan V; Schrauwen I F1000Res; 2017; 6():553. PubMed ID: 28663785 [TBL] [Abstract][Full Text] [Related]
7. Mouse Models of Human Pathogenic Variants of Tona R; Lopez IA; Fenollar-Ferrer C; Faridi R; Anselmi C; Khan AA; Shahzad M; Morell RJ; Gu S; Hoa M; Dong L; Ishiyama A; Belyantseva IA; Riazuddin S; Friedman TB Genes (Basel); 2020 Sep; 11(10):. PubMed ID: 32987832 [TBL] [Abstract][Full Text] [Related]
8. The genetic basis of DOORS syndrome: an exome-sequencing study. Campeau PM; Kasperaviciute D; Lu JT; Burrage LC; Kim C; Hori M; Powell BR; Stewart F; Félix TM; van den Ende J; Wisniewska M; Kayserili H; Rump P; Nampoothiri S; Aftimos S; Mey A; Nair LD; Begleiter ML; De Bie I; Meenakshi G; Murray ML; Repetto GM; Golabi M; Blair E; Male A; Giuliano F; Kariminejad A; Newman WG; Bhaskar SS; Dickerson JE; Kerr B; Banka S; Giltay JC; Wieczorek D; Tostevin A; Wiszniewska J; Cheung SW; Hennekam RC; Gibbs RA; Lee BH; Sisodiya SM Lancet Neurol; 2014 Jan; 13(1):44-58. PubMed ID: 24291220 [TBL] [Abstract][Full Text] [Related]
9. TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss. Oziębło D; Leja ML; Lazniewski M; Sarosiak A; Tacikowska G; Kochanek K; Plewczynski D; Skarżyński H; Ołdak M Sci Rep; 2021 May; 11(1):10300. PubMed ID: 33986365 [TBL] [Abstract][Full Text] [Related]
10. TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model. Lüthy K; Mei D; Fischer B; De Fusco M; Swerts J; Paesmans J; Parrini E; Lubarr N; Meijer IA; Mackenzie KM; Lee WT; Cittaro D; Aridon P; Schoovaerts N; Versées W; Verstreken P; Casari G; Guerrini R Brain; 2019 Aug; 142(8):2319-2335. PubMed ID: 31257402 [TBL] [Abstract][Full Text] [Related]
11. Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations. Stražišar BG; Neubauer D; Paro Panjan D; Writzl K Eur J Paediatr Neurol; 2015 Mar; 19(2):251-6. PubMed ID: 25557349 [TBL] [Abstract][Full Text] [Related]
12. Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function. Fischer B; Lüthy K; Paesmans J; De Koninck C; Maes I; Swerts J; Kuenen S; Uytterhoeven V; Verstreken P; Versées W Nat Struct Mol Biol; 2016 Nov; 23(11):965-973. PubMed ID: 27669036 [TBL] [Abstract][Full Text] [Related]
13. Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant nonsyndromic hearing loss. Kim BJ; Kim AR; Han JH; Lee C; Oh DY; Choi BY J Gene Med; 2017 Apr; 19(4):. PubMed ID: 28221712 [TBL] [Abstract][Full Text] [Related]
14. Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. Lozano R; Herman K; Rothfuss M; Rieger H; Bayrak-Toydemir P; Aprile D; Fruscione F; Zara F; Fassio A Am J Med Genet A; 2016 Dec; 170(12):3207-3214. PubMed ID: 27541164 [TBL] [Abstract][Full Text] [Related]
15. Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees. Bakhchane A; Charif M; Salime S; Boulouiz R; Nahili H; Roky R; Lenaers G; Barakat A PLoS One; 2015; 10(9):e0138072. PubMed ID: 26371875 [TBL] [Abstract][Full Text] [Related]
16. A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy. Nakashima M; Negishi Y; Hori I; Hattori A; Saitoh S; Saitsu H Am J Med Genet A; 2019 Apr; 179(4):645-649. PubMed ID: 30680869 [TBL] [Abstract][Full Text] [Related]
17. The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons. Finelli MJ; Aprile D; Castroflorio E; Jeans A; Moschetta M; Chessum L; Degiacomi MT; Grasegger J; Lupien-Meilleur A; Bassett A; Rossignol E; Campeau PM; Bowl MR; Benfenati F; Fassio A; Oliver PL Hum Mol Genet; 2019 Feb; 28(4):584-597. PubMed ID: 30335140 [TBL] [Abstract][Full Text] [Related]
19. A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in Song JS; Bahloul A; Petit C; Kim SJ; Moon IJ; Lee J; Ki CS Ann Lab Med; 2020 May; 40(3):224-231. PubMed ID: 31858762 [TBL] [Abstract][Full Text] [Related]