269 related articles for article (PubMed ID: 37445847)
1. Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases.
Zufiaurre-Seijo M; García-Arumí J; Duarri A
Int J Mol Sci; 2023 Jun; 24(13):. PubMed ID: 37445847
[TBL] [Abstract][Full Text] [Related]
2. PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation.
Corral-Serrano JC; Lamers IJC; van Reeuwijk J; Duijkers L; Hoogendoorn ADM; Yildirim A; Argyrou N; Ruigrok RAA; Letteboer SJF; Butcher R; van Essen MD; Sakami S; van Beersum SEC; Palczewski K; Cheetham ME; Liu Q; Boldt K; Wolfrum U; Ueffing M; Garanto A; Roepman R; Collin RWJ
Proc Natl Acad Sci U S A; 2020 May; 117(18):9922-9931. PubMed ID: 32312818
[TBL] [Abstract][Full Text] [Related]
3. PCARE requires coiled coil, RP62 kinase-binding and EVH1 domain-binding motifs for ciliary expansion.
Afanasyeva TAV; Schnellbach YT; Gibson TJ; Roepman R; Collin RWJ
Hum Mol Genet; 2022 Aug; 31(15):2560-2570. PubMed ID: 35253837
[TBL] [Abstract][Full Text] [Related]
4. C2orf71a/pcare1 is important for photoreceptor outer segment morphogenesis and visual function in zebrafish.
Corral-Serrano JC; Messchaert M; Dona M; Peters TA; Kamminga LM; van Wijk E; Collin RWJ
Sci Rep; 2018 Jun; 8(1):9675. PubMed ID: 29946172
[TBL] [Abstract][Full Text] [Related]
5. PRCD is concentrated at the base of photoreceptor outer segments and is involved in outer segment disc formation.
Allon G; Mann I; Remez L; Sehn E; Rizel L; Nevet MJ; Perlman I; Wolfrum U; Ben-Yosef T
Hum Mol Genet; 2019 Dec; 28(24):4078-4088. PubMed ID: 31628458
[TBL] [Abstract][Full Text] [Related]
6. Photoreceptor actin dysregulation in syndromic and non-syndromic retinitis pigmentosa.
Megaw R; Hurd TW
Biochem Soc Trans; 2018 Dec; 46(6):1463-1473. PubMed ID: 30464047
[TBL] [Abstract][Full Text] [Related]
7. Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.
Suga A; Mizota A; Kato M; Kuniyoshi K; Yoshitake K; Sultan W; Yamazaki M; Shimomura Y; Ikeo K; Tsunoda K; Iwata T
Invest Ophthalmol Vis Sci; 2016 Aug; 57(10):4255-63. PubMed ID: 27548899
[TBL] [Abstract][Full Text] [Related]
8. Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.
Nishimura DY; Baye LM; Perveen R; Searby CC; Avila-Fernandez A; Pereiro I; Ayuso C; Valverde D; Bishop PN; Manson FD; Urquhart J; Stone EM; Slusarski DC; Black GC; Sheffield VC
Am J Hum Genet; 2010 May; 86(5):686-95. PubMed ID: 20398886
[TBL] [Abstract][Full Text] [Related]
9. Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy.
Lu Z; Hu X; Liu F; Soares DC; Liu X; Yu S; Gao M; Han S; Qin Y; Li C; Jiang T; Luo D; Guo AY; Tang Z; Liu M
Sci Rep; 2017 Apr; 7():46098. PubMed ID: 28378834
[TBL] [Abstract][Full Text] [Related]
10. Deletion of the transmembrane protein Prom1b in zebrafish disrupts outer-segment morphogenesis and causes photoreceptor degeneration.
Lu Z; Hu X; Reilly J; Jia D; Liu F; Yu S; Liu X; Xie S; Qu Z; Qin Y; Huang Y; Lv Y; Li J; Gao P; Wong F; Shu X; Tang Z; Liu M
J Biol Chem; 2019 Sep; 294(38):13953-13963. PubMed ID: 31362982
[TBL] [Abstract][Full Text] [Related]
11. C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.
Gerth-Kahlert C; Tiwari A; Hanson JVM; Batmanabane V; Traboulsi E; Pennesi ME; Al-Qahtani AA; Lam BL; Heckenlively J; Zweifel SA; Vincent A; Fierz F; Barthelmes D; Branham K; Khan N; Bahr A; Baehr L; Magyar I; Koller S; Azzarello-Burri S; Niedrist D; Heon E; Berger W
Invest Ophthalmol Vis Sci; 2017 Aug; 58(10):3840-3850. PubMed ID: 28763557
[TBL] [Abstract][Full Text] [Related]
12. Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
Roosing S; Lamers IJ; de Vrieze E; van den Born LI; Lambertus S; Arts HH; ; Peters TA; Hoyng CB; Kremer H; Hetterschijt L; Letteboer SJ; van Wijk E; Roepman R; den Hollander AI; Cremers FP
Am J Hum Genet; 2014 Aug; 95(2):131-42. PubMed ID: 25018096
[TBL] [Abstract][Full Text] [Related]
13. Non-syndromic retinal ciliopathies: translating gene discovery into therapy.
Estrada-Cuzcano A; Roepman R; Cremers FP; den Hollander AI; Mans DA
Hum Mol Genet; 2012 Oct; 21(R1):R111-24. PubMed ID: 22843501
[TBL] [Abstract][Full Text] [Related]
14. Molecular characterization of MAP9 in the photoreceptor sensory cilia as a modifier in canine
Takahashi K; Kwok JC; Sato Y; Aguirre GD; Miyadera K
Front Cell Neurosci; 2023; 17():1226603. PubMed ID: 37650070
[TBL] [Abstract][Full Text] [Related]
15. Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models.
Megaw R; Abu-Arafeh H; Jungnickel M; Mellough C; Gurniak C; Witke W; Zhang W; Khanna H; Mill P; Dhillon B; Wright AF; Lako M; Ffrench-Constant C
Nat Commun; 2017 Aug; 8(1):271. PubMed ID: 28814713
[TBL] [Abstract][Full Text] [Related]
16. Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.
Collin RW; Safieh C; Littink KW; Shalev SA; Garzozi HJ; Rizel L; Abbasi AH; Cremers FP; den Hollander AI; Klevering BJ; Ben-Yosef T
Am J Hum Genet; 2010 May; 86(5):783-8. PubMed ID: 20398884
[TBL] [Abstract][Full Text] [Related]
17. CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish.
Yu S; Li C; Biswas L; Hu X; Liu F; Reilly J; Liu X; Liu Y; Huang Y; Lu Z; Han S; Wang L; Yu Liu J; Jiang T; Shu X; Wong F; Tang Z; Liu M
Hum Mol Genet; 2017 Jun; 26(12):2335-2345. PubMed ID: 28398482
[TBL] [Abstract][Full Text] [Related]
18. Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice.
Eblimit A; Agrawal SA; Thomas K; Anastassov IA; Abulikemu T; Moayedi Y; Mardon G; Chen R
Exp Eye Res; 2018 Jan; 166():120-130. PubMed ID: 29100828
[TBL] [Abstract][Full Text] [Related]
19. Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium.
Hong DH; Yue G; Adamian M; Li T
J Biol Chem; 2001 Apr; 276(15):12091-9. PubMed ID: 11104772
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]