131 related articles for article (PubMed ID: 35152177)
1. Establishment of iPS cell line (KLRMMEi002-A) by reprogramming peripheral blood mononuclear cells from a patient with USH2A-associated Usher syndrome.
Liang L; Xue Y; Su C; Wang J; Chen L; Su T; Ke J; Xie L; Cui Z; Yu Q; Chan HF; Zhong J; Guo Y; Chen J
Stem Cell Res; 2022 Apr; 60():102699. PubMed ID: 35152177
[TBL] [Abstract][Full Text] [Related]
2. Establishment of iPS cell line (KLRMMEi003-A) from a patient with Usher syndrome due to USH2A mutation.
Chen L; Wang J; Yang T; Xie L; Cui Z; Yu Q; Zhong J; Chan HF; Xue Y; Guo Y; Chen J
Stem Cell Res; 2023 Apr; 68():103055. PubMed ID: 36863132
[TBL] [Abstract][Full Text] [Related]
3. Generation of the induced pluripotent stem cell line SFMUi001-A from a patient with usher syndrome type 2 caused by biallelic variants in the USH2A gene.
Qiu S; Zhang X; Zhang L; Liu Z; Wang L; Jin ZB; Xiao P
Stem Cell Res; 2023 Jun; 69():103101. PubMed ID: 37126974
[TBL] [Abstract][Full Text] [Related]
4. Generation and Genetic Correction of USH2A c.2299delG Mutation in Patient-Derived Induced Pluripotent Stem Cells.
Liu X; Lillywhite J; Zhu W; Huang Z; Clark AM; Gosstola N; Maguire CT; Dykxhoorn D; Chen ZY; Yang J
Genes (Basel); 2021 May; 12(6):. PubMed ID: 34070435
[TBL] [Abstract][Full Text] [Related]
5. Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.
Nakanishi H; Ohtsubo M; Iwasaki S; Hotta Y; Mizuta K; Mineta H; Minoshima S
Clin Genet; 2009 Oct; 76(4):383-91. PubMed ID: 19737284
[TBL] [Abstract][Full Text] [Related]
6. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.
Reiners J; Nagel-Wolfrum K; Jürgens K; Märker T; Wolfrum U
Exp Eye Res; 2006 Jul; 83(1):97-119. PubMed ID: 16545802
[TBL] [Abstract][Full Text] [Related]
7. Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).
Iannaccone A; Brewer CC; Cheng P; Duncan JL; Maguire MG; Audo I; Ayala AR; Bernstein PS; Bidelman GM; Cheetham JK; Doty RL; Durham TA; Hufnagel RB; Myers MH; Stingl K; Zein WM;
Am J Med Genet A; 2021 Dec; 185(12):3717-3727. PubMed ID: 34331386
[TBL] [Abstract][Full Text] [Related]
8. Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants.
Zhu T; Wu S; Sun Z; Wei X; Han X; Zou X; Sui R
Stem Cell Res; 2021 Aug; 55():102502. PubMed ID: 34419747
[TBL] [Abstract][Full Text] [Related]
9. Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2.
He C; Liu X; Zhong Z; Chen J
BMC Ophthalmol; 2020 Feb; 20(1):70. PubMed ID: 32093671
[TBL] [Abstract][Full Text] [Related]
10. Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.
Dai H; Zhang X; Zhao X; Deng T; Dong B; Wang J; Li Y
Mol Vis; 2008; 14():2067-75. PubMed ID: 19023448
[TBL] [Abstract][Full Text] [Related]
11. Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.
Auslender N; Bandah D; Rizel L; Behar DM; Shohat M; Banin E; Allon-Shalev S; Sharony R; Sharon D; Ben-Yosef T
Genet Test; 2008 Jun; 12(2):289-94. PubMed ID: 18452394
[TBL] [Abstract][Full Text] [Related]
12. USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families.
Ahmed AN; Tahir R; Khan N; Ahmad M; Dawood M; Basit A; Yasin M; Nowshid M; Marwan M; Sultan K; Saleha S
BMC Ophthalmol; 2021 Apr; 21(1):191. PubMed ID: 33926394
[TBL] [Abstract][Full Text] [Related]
13. Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.
Stemerdink M; García-Bohórquez B; Schellens R; Garcia-Garcia G; Van Wijk E; Millan JM
Hum Genet; 2022 Apr; 141(3-4):737-758. PubMed ID: 34331125
[TBL] [Abstract][Full Text] [Related]
14. Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene.
Zurita-Díaz F; Ortuño-Costela MDC; Moreno-Izquierdo A; Galbis L; Millán JM; Ayuso C; Garesse R; Gallardo ME
Stem Cell Res; 2018 Aug; 31():152-156. PubMed ID: 30096711
[TBL] [Abstract][Full Text] [Related]
15. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
Ebermann I; Scholl HP; Charbel Issa P; Becirovic E; Lamprecht J; Jurklies B; Millán JM; Aller E; Mitter D; Bolz H
Hum Genet; 2007 Apr; 121(2):203-11. PubMed ID: 17171570
[TBL] [Abstract][Full Text] [Related]
16. Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
Garcia-Garcia G; Aparisi MJ; Jaijo T; Rodrigo R; Leon AM; Avila-Fernandez A; Blanco-Kelly F; Bernal S; Navarro R; Diaz-Llopis M; Baiget M; Ayuso C; Millan JM; Aller E
Orphanet J Rare Dis; 2011 Oct; 6():65. PubMed ID: 22004887
[TBL] [Abstract][Full Text] [Related]
17. Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
Dreyer B; Brox V; Tranebjaerg L; Rosenberg T; Sadeghi AM; Möller C; Nilssen O
Hum Mutat; 2008 Mar; 29(3):451. PubMed ID: 18273898
[TBL] [Abstract][Full Text] [Related]
18. Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.
Sorusch N; Bauß K; Plutniok J; Samanta A; Knapp B; Nagel-Wolfrum K; Wolfrum U
Hum Mol Genet; 2017 Mar; 26(6):1157-1172. PubMed ID: 28137943
[TBL] [Abstract][Full Text] [Related]
19. Generation and characterization of a human iPSC line (JUFMDOi007-A) from a patient with Usher syndrome due to mutation in USH2A.
Ukaji T; Takahashi-Shibata M; Arai D; Tsutsumi H; Tajima S; Akamatsu W; Matsumoto F; Ikeda K; Usami SI; Kamiya K
Stem Cell Res; 2023 Jun; 69():103100. PubMed ID: 37099934
[TBL] [Abstract][Full Text] [Related]
20. Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2.
Chen Q; Zou J; Shen Z; Zhang W; Yang J
J Biol Chem; 2014 Dec; 289(52):36070-88. PubMed ID: 25406310
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
