218 related articles for article (PubMed ID: 27905547)
1. In silico Mapping of Protein Unfolding Mutations for Inherited Disease.
McCafferty CL; Sergeev YV
Sci Rep; 2016 Dec; 6():37298. PubMed ID: 27905547
[TBL] [Abstract][Full Text] [Related]
2. Dataset of eye disease-related proteins analyzed using the unfolding mutation screen.
McCafferty CL; Sergeev YV
Sci Data; 2016 Dec; 3():160112. PubMed ID: 27922631
[TBL] [Abstract][Full Text] [Related]
3. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Mackay DS; Borman AD; Sui R; van den Born LI; Berson EL; Ocaka LA; Davidson AE; Heckenlively JR; Branham K; Ren H; Lopez I; Maria M; Azam M; Henkes A; Blokland E; Qamar R; Webster AR; Cremers FPM; Moore AT; Koenekoop RK; ; Andreasson S; de Baere E; Bennett J; Chader GJ; Berger W; Golovleva I; Greenberg J; den Hollander AI; Klaver CCW; Klevering BJ; Lorenz B; Preising MN; Ramsear R; Roberts L; Roepman R; Rohrschneider K; Wissinger B
Hum Mutat; 2013 Nov; 34(11):1537-1546. PubMed ID: 23946133
[TBL] [Abstract][Full Text] [Related]
4. Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.
Huang H; Wang Y; Chen H; Chen Y; Wu J; Chiang PW; Fan N; Su Y; Deng J; Chen D; Li Y; Zhang X; Zhang M; Liang S; Banerjee S; Qi M; Liu X
Oncotarget; 2017 May; 8(21):35176-35183. PubMed ID: 28456785
[TBL] [Abstract][Full Text] [Related]
5. Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa.
Kiang AS; Kenna PF; Humphries MM; Ozaki E; Koenekoop RK; Campbell M; Farrar GJ; Humphries P
Genes (Basel); 2020 Nov; 11(12):. PubMed ID: 33261050
[TBL] [Abstract][Full Text] [Related]
6. Retinitis pigmentosa rhodopsin mutations L125R and A164V perturb critical interhelical interactions: new insights through compensatory mutations and crystal structure analysis.
Stojanovic A; Hwang I; Khorana HG; Hwa J
J Biol Chem; 2003 Oct; 278(40):39020-8. PubMed ID: 12871954
[TBL] [Abstract][Full Text] [Related]
7. Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Walia S; Fishman GA; Jacobson SG; Aleman TS; Koenekoop RK; Traboulsi EI; Weleber RG; Pennesi ME; Heon E; Drack A; Lam BL; Allikmets R; Stone EM
Ophthalmology; 2010 Jun; 117(6):1190-8. PubMed ID: 20079931
[TBL] [Abstract][Full Text] [Related]
8. Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.
Corton M; Avila-Fernandez A; Vallespín E; López-Molina MI; Almoguera B; Martín-Garrido E; Tatu SD; Khan MI; Blanco-Kelly F; Riveiro-Alvarez R; Brión M; García-Sandoval B; Cremers FPM; Carracedo A; Ayuso C
Ophthalmology; 2014 Jan; 121(1):399-407. PubMed ID: 24144451
[TBL] [Abstract][Full Text] [Related]
9. Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations.
Huang CH; Yang CM; Yang CH; Hou YC; Chen TC
Genes (Basel); 2021 Aug; 12(8):. PubMed ID: 34440435
[TBL] [Abstract][Full Text] [Related]
10. Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.
Srikrupa NN; Meenakshi S; Arokiasamy T; Murali K; Soumittra N
Ophthalmic Genet; 2014 Jun; 35(2):119-24. PubMed ID: 23638917
[TBL] [Abstract][Full Text] [Related]
11. Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients.
Xu F; Dong Q; Liu L; Li H; Liang X; Jiang R; Sui R; Dong F
Mol Vis; 2012; 18():744-50. PubMed ID: 22509104
[TBL] [Abstract][Full Text] [Related]
12. Biallelic
Huckfeldt RM; Grigorian F; Place E; Comander JI; Vavvas D; Young LH; Yang P; Shurygina M; Pierce EA; Pennesi ME
Mol Vis; 2020; 26():423-433. PubMed ID: 32565670
[TBL] [Abstract][Full Text] [Related]
13. Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.
Wu J; Sun Z; Zhang DW; Liu HL; Li T; Zhang S; Wu J
PeerJ; 2023; 11():e15702. PubMed ID: 37547722
[TBL] [Abstract][Full Text] [Related]
14. [Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes].
Hamel CP; Griffoin JM; Bazalgette C; Lasquellec L; Duval PA; Bareil C; Beaufrère L; Bonnet S; Eliaou C; Marlhens F; Schmitt-Bernard CF; Tuffery S; Claustres M; Arnaud B
J Fr Ophtalmol; 2000 Dec; 23(10):985-95. PubMed ID: 11139690
[TBL] [Abstract][Full Text] [Related]
15. Structural insights into retinitis pigmentosa from unfolding simulations of rhodopsin mutants.
Fanelli F; Seeber M
FASEB J; 2010 Sep; 24(9):3196-209. PubMed ID: 20395457
[TBL] [Abstract][Full Text] [Related]
16. Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis.
Jakobsson C; Othman IS; Munier FL; Schorderet DF; Abouzeid H
Klin Monbl Augenheilkd; 2014 Apr; 231(4):405-10. PubMed ID: 24771178
[TBL] [Abstract][Full Text] [Related]
17. Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa.
Ali M; Hocking PM; McKibbin M; Finnegan S; Shires M; Poulter JA; Prescott K; Booth A; Raashid Y; Jafri H; Ruddle JB; Mackey DA; Jacobson SG; Toomes C; Lester DH; Burt DW; Curry WJ; Inglehearn CF
Invest Ophthalmol Vis Sci; 2011 Sep; 52(10):7432-40. PubMed ID: 21862650
[TBL] [Abstract][Full Text] [Related]
18. Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.
Srilekha S; Arokiasamy T; Srikrupa NN; Umashankar V; Meenakshi S; Sen P; Kapur S; Soumittra N
PLoS One; 2015; 10(7):e0131679. PubMed ID: 26147992
[TBL] [Abstract][Full Text] [Related]
19. Gene therapy for eye as regenerative medicine? Lessons from RPE65 gene therapy for Leber's Congenital Amaurosis.
Rakoczy EP; Narfström K
Int J Biochem Cell Biol; 2014 Nov; 56():153-7. PubMed ID: 25286304
[TBL] [Abstract][Full Text] [Related]
20. Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations.
Rakoczy EP; Kiel C; McKeone R; Stricher F; Serrano L
J Mol Biol; 2011 Jan; 405(2):584-606. PubMed ID: 21094163
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
