Výsledky vyhledávání - "Arokiasamy, Tharigopala"

Akademický článek

Association of polymorphisms in the intron of TCF4 gene to late-onset Fuchs endothelial corneal dystrophy: An Indian cohort study

Autor: Bhavna S Rao, Arokiasamy Tharigopala, Sudhir R Rachapalli, Rama Rajagopal, Nagasamy Soumittra

Publikováno v: Indian Journal of Ophthalmology, Vol 65, Iss 10, Pp 931-935 (2017)

Purpose: Fuchs endothelial corneal dystrophy (FECD) is a progressive degenerative disease of the corneal endothelium. It is genetically heterogeneous and follows either an autosomal dominant or sporadic pattern of inheritance. Here, we have explored

Externí odkaz: https://doaj.org/article/7822612351584112bfcffca44159d037

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Akademický článek

Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?

Autor: Dhandayuthapani Sudha, Srividya Neriyanuri, Ramya Sachidanandam, Srikrupa N Natarajan, Mamatha Gandra, Arokiasamy Tharigopala, Muthukumaran Sivashanmugam, Mohammed Alameen, Umashankar Vetrivel, Lingam Gopal, Vikas Khetan, Rajiv Raman, Parveen Sen, Subbulakshmi Chidambaram, Jayamuruga Pandian Arunachalam

Publikováno v: PLoS ONE, Vol 13, Iss 5, p e0198086 (2018)

X-linked retinoschisis (XLRS) is a retinal degenerative disorder caused by mutations in RS1 gene leading to splitting of retinal layers (schisis) which impairs visual signal processing. Retinoschisin (RS1) is an adhesive protein which is secreted pre

Externí odkaz: https://doaj.org/article/8d9a99cf407c4c54b57681d629ae9366

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Akademický článek

Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.

Autor: Srilekha, Sundaramurthy^1,2, Arokiasamy, Tharigopala¹, Srikrupa, Natarajan N.^1,2, Umashankar, Vetrivel³, Meenakshi, Swaminathan⁴ drnsm@snmail.org, Sen, Parveen⁵, Kapur, Suman⁶, Soumittra, Nagasamy¹ soumi_n@yahoo.co.uk

Publikováno v: PLoS ONE. 7/6/2015, Vol. 10 Issue 7, p1-15. 15p.

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Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?

Autor: Srividya Neriyanuri, Mamatha Gandra, Arokiasamy Tharigopala, Lingam Gopal, Jayamuruga Pandian Arunachalam, Vikas Khetan, Srikrupa N. Natarajan, Mohammed Alameen, Muthukumaran Sivashanmugam, Parveen Sen, Ramya Sachidanandam, Rajiv Raman, Dhandayuthapani Sudha, Umashankar Vetrivel, Subbulakshmi Chidambaram

Publikováno v: PLoS ONE, Vol 13, Iss 5, p e0198086 (2018)
PLoS ONE

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d14de034c1294b47c0debe05252605a6
http://europepmc.org/articles/PMC5978886?pdf=render

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Akademický článek

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Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness

Autor: Neuillé, Marion, Malaichamy, Sivasankar, Vadalà, Maria, Michiels, Christelle, Condroyer, Christel, Sachidanandam, Ramya, Srilekha, Sundaramurthy, Arokiasamy, Tharigopala, Letexier, Mélanie, Démontant, Vanessa, Sahel, José-Alain, Sen, Parveen, Audo, Isabelle, Soumittra, Nagasamy, Zeitz, Christina

Publikováno v: Clinical Epigenetics
Clinical Epigenetics, BioMed Central, 2016, ⟨10.1111/cge.12746⟩
Clinical Epigenetics, 2016, ⟨10.1111/cge.12746⟩

International audience; Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disorder which represents rod photoreceptor dysfunction or signal transmission defect from photoreceptors to adjacent bipolar c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2d19dd8c24e8c5ed97329cc3ea73a147
https://hal.sorbonne-universite.fr/hal-01285951/file/Neuille_2016_Next-generation.pdf

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Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis

Autor: Ramprasad, Vedam Lakshmi, Soumittra, Nagasamy, Nancarrow, Derek, Sen, Parveen, McKibbin, Martin, Williams, Grange A, Arokiasamy, Tharigopala, Lakshmipathy, Praveena, Inglehearn, Chris F, Kumaramanickavel, Govindasamy

Publikováno v: Molecular Vision

Purpose Leber congenital amaurosis (LCA) is one of the most common causes of hereditary blindness in infants. To date, mutations in 13 known genes and at two other loci have been implicated in LCA causation. An examination of the known genes highligh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f471be13ffed194101a6d9b0f6fe12ae
http://europepmc.org/articles/PMC2268850

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Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort

Autor: Malaichamy, Sivasankar, Sen, Parveen, Sachidanandam, Ramya, Arokiasamy, Tharigopala, Lancelot, Marie Elise, Audo, Isabelle, Christina Zeitz, Soumittra, Nagasamy

Publikováno v: Molecular Vision
Molecular Vision, Molecular Vision, 2014, 20, pp.341-351
ResearcherID
Molecular Vision, 2014, 20, pp.341-351
Web of Science

International audience; PURPOSE:Congenital stationary night blindness (CSNB) is a non-progressive retinal disorder that shows genetic and clinical heterogeneity. CSNB is inherited as an autosomal recessive, autosomal dominant, or X-linked recessive t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::fcf0bb3f765fe8363800fde48fead8f9
https://hal.sorbonne-universite.fr/hal-01332334/document

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Akademický článek

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Akademický článek

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