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Year Number of Results
1970 1
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2002 1
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2007 1
2008 1
2010 1
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2016 5
2017 2
2019 1
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23 results

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Page 1
Cilia-related diseases.
Afzelius BA. Afzelius BA. J Pathol. 2004 Nov;204(4):470-7. doi: 10.1002/path.1652. J Pathol. 2004. PMID: 15495266 Free PMC article. Review.
Some genes are responsible for the synthesis, transport, and assembly of the cilia, and mutations in these genes may lead to progressive degeneration of ciliary structures, such as the connecting cilium (9 + 0) of the photoreceptor cells-this is the cause of retinitis p …
Some genes are responsible for the synthesis, transport, and assembly of the cilia, and mutations in these genes may lead to progressive deg …
Genetic dissection of non-syndromic retinitis pigmentosa.
Bhardwaj A, Yadav A, Yadav M, Tanwar M. Bhardwaj A, et al. Indian J Ophthalmol. 2022 Jul;70(7):2355-2385. doi: 10.4103/ijo.IJO_46_22. Indian J Ophthalmol. 2022. PMID: 35791117 Free PMC article. Review.
Retinitis pigmentosa (RP) belongs to a group of pigmentary retinopathies. ...In this review, we are going to focus on the genetic heterogeneity of this disease, which is provided by various inheritance patterns, numerosity of variations and inter-/intra-familial var …
Retinitis pigmentosa (RP) belongs to a group of pigmentary retinopathies. ...In this review, we are going to focus on the gene …
Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds.
Bunel M, Chaudieu G, Hamel C, Lagoutte L, Manes G, Botherel N, Brabet P, Pilorge P, André C, Quignon P. Bunel M, et al. Hum Genet. 2019 May;138(5):441-453. doi: 10.1007/s00439-019-01999-6. Epub 2019 Mar 23. Hum Genet. 2019. PMID: 30904946 Review.
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders eventually leading to blindness with different ages of onset, progression and severity. Human RP, first characterized by the progressive degeneration of rod photoreceptor cells, shows …
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders eventually leading to blindness with differe …
Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.
Rose AM, Bhattacharya SS. Rose AM, et al. Clin Genet. 2016 Aug;90(2):118-26. doi: 10.1111/cge.12758. Epub 2016 Mar 4. Clin Genet. 2016. PMID: 26853529 Review.
Retinitis pigmentosa (RP) is a genetically heterogenous group of inherited disorders, characterized by death of the retinal photoreceptor cells, leading to progressive visual impairment. ...
Retinitis pigmentosa (RP) is a genetically heterogenous group of inherited disorders, characterized by death of the retinal ph …
Cilia and disease.
Eley L, Yates LM, Goodship JA. Eley L, et al. Curr Opin Genet Dev. 2005 Jun;15(3):308-14. doi: 10.1016/j.gde.2005.04.008. Curr Opin Genet Dev. 2005. PMID: 15917207 Review.
In the rods and cones of the retina, photoreceptor discs and visual pigments are synthesized in the inner segment and transported to the distal outer segment through a narrow 9+0 connecting cilium; defects in this process lead to retinitis pigmentosa. Although the f …
In the rods and cones of the retina, photoreceptor discs and visual pigments are synthesized in the inner segment and transported to the dis …
Hsp90 as a Potential Therapeutic Target in Retinal Disease.
Aguilà M, Cheetham ME. Aguilà M, et al. Adv Exp Med Biol. 2016;854:161-7. doi: 10.1007/978-3-319-17121-0_22. Adv Exp Med Biol. 2016. PMID: 26427407 Free PMC article. Review.
The molecular chaperone heat shock protein 90 (Hsp90) is a pivotal cellular regulator involved in the folding, activation and assembly of a wide range of proteins. Hsp90 has multiple roles in the retina and the use of different Hsp90 inhibitors has been shown to prevent re …
The molecular chaperone heat shock protein 90 (Hsp90) is a pivotal cellular regulator involved in the folding, activation and assembl …
Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature.
García García LC, Zamorano Martín F, Rocha de Lossada C, García Lorente M, Luque Aranda G, Escudero Gómez J. García García LC, et al. Arch Soc Esp Oftalmol (Engl Ed). 2021 Sep;96(9):496-499. doi: 10.1016/j.oftale.2020.07.013. Epub 2020 Nov 28. Arch Soc Esp Oftalmol (Engl Ed). 2021. PMID: 34479707 Review.
Its most frequent form of presentation at the ophthalmological level is retinitis pigmentosa, and in some cases the ophthalmologist could be the first one to alert the other paediatric specialties to carry out a multidisciplinary approach to the case. ...
Its most frequent form of presentation at the ophthalmological level is retinitis pigmentosa, and in some cases the ophthalmol …
Effects of lutein and zeaxanthin on aspects of eye health.
Ma L, Lin XM. Ma L, et al. J Sci Food Agric. 2010 Jan 15;90(1):2-12. doi: 10.1002/jsfa.3785. J Sci Food Agric. 2010. PMID: 20355006 Review.
Most of epidemiological studies and clinical trials support the notion that lutein and zeaxanthin have a potential role in the prevention and treatment of certain eye diseases such as age-related macular degeneration, cataract and retinitis pigmentosa. The biologica …
Most of epidemiological studies and clinical trials support the notion that lutein and zeaxanthin have a potential role in the prevention an …
Gene therapy for PRPH2-associated ocular disease: challenges and prospects.
Conley SM, Naash MI. Conley SM, et al. Cold Spring Harb Perspect Med. 2014 Aug 28;4(11):a017376. doi: 10.1101/cshperspect.a017376. Cold Spring Harb Perspect Med. 2014. PMID: 25167981 Free PMC article. Review.
The peripherin-2 (PRPH2) gene encodes a photoreceptor-specific tetraspanin protein called peripherin-2/retinal degeneration slow (RDS), which is critical for the formation and maintenance of rod and cone outer segments. Over 90 different disease-causing mutations in PRPH2 …
The peripherin-2 (PRPH2) gene encodes a photoreceptor-specific tetraspanin protein called peripherin-2/retinal degeneration slow (RDS), whic …
23 results