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

10.1371/journal.pone.0198086

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Main Authors:	Sudha D., Neriyanuri S., Sachidanandam R., Natarajan S.N., Gandra M., Tharigopala A., Sivashanmugam M., Alameen M., Vetrivel U., Gopal L., Khetan V., Raman R., Sen P., Chidambaram S., Arunachalam J.P.
Other Authors:	OPHTHALMOLOGY
Format:	Article
Published:	2019
Subjects:	retinoschisin eye protein RS1 protein, human amino acid substitution Article bioinformatics carboxy terminal sequence cell culture child clinical article cohort analysis computer model controlled study disease severity electroretinogram electroretinography frameshift mutation gene gene sequence genetic engineering genetic screening genetic variation genotype phenotype correlation human hydrophilicity hydrophobicity in vitro study infant male mutational analysis optical coherence tomography phenotypic variation preschool child protein analysis protein function protein localization protein secondary structure protein secretion refraction error retinoschisis RS1 gene sequence homology visual acuity X chromosome linked disorder adolescent adult animal chemistry Chlorocebus aethiops CV-1 cell line genetics genotype metabolism molecular model mutation phenotype protein conformation secretion (process) severity of illness index young adult Adolescent Adult Animals Cercopithecus aethiops Child Child, Preschool COS Cells Eye Proteins Genotype Humans Male Models, Molecular Mutation Phenotype Protein Conformation Retinoschisis Severity of Illness Index Young Adult
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/161224
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Institution:	National University of Singapore

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spelling	sg-nus-scholar.10635-1612242024-04-12T05:48:57Z Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity? Sudha D. Neriyanuri S. Sachidanandam R. Natarajan S.N. Gandra M. Tharigopala A. Sivashanmugam M. Alameen M. Vetrivel U. Gopal L. Khetan V. Raman R. Sen P. Chidambaram S. Arunachalam J.P. OPHTHALMOLOGY retinoschisin eye protein RS1 protein, human amino acid substitution Article bioinformatics carboxy terminal sequence cell culture child clinical article cohort analysis computer model controlled study disease severity electroretinogram electroretinography frameshift mutation gene gene sequence genetic engineering genetic screening genetic variation genotype phenotype correlation human hydrophilicity hydrophobicity in vitro study infant male mutational analysis optical coherence tomography phenotypic variation preschool child protein analysis protein function protein localization protein secondary structure protein secretion refraction error retinoschisis RS1 gene sequence homology visual acuity X chromosome linked disorder adolescent adult animal chemistry Chlorocebus aethiops CV-1 cell line genetics genotype metabolism molecular model mutation phenotype protein conformation retinoschisis secretion (process) severity of illness index young adult Adolescent Adult Animals Cercopithecus aethiops Child Child, Preschool COS Cells Eye Proteins Genotype Humans Male Models, Molecular Mutation Phenotype Protein Conformation Retinoschisis Severity of Illness Index Young Adult 10.1371/journal.pone.0198086 PLoS ONE 13 5 e0198086 2019-11-01T08:14:28Z 2019-11-01T08:14:28Z 2018 Article Sudha D., Neriyanuri S., Sachidanandam R., Natarajan S.N., Gandra M., Tharigopala A., Sivashanmugam M., Alameen M., Vetrivel U., Gopal L., Khetan V., Raman R., Sen P., Chidambaram S., Arunachalam J.P. (2018). Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?. PLoS ONE 13 (5) : e0198086. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0198086 19326203 https://scholarbank.nus.edu.sg/handle/10635/161224 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ Unpaywall 20191101
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	retinoschisin eye protein RS1 protein, human amino acid substitution Article bioinformatics carboxy terminal sequence cell culture child clinical article cohort analysis computer model controlled study disease severity electroretinogram electroretinography frameshift mutation gene gene sequence genetic engineering genetic screening genetic variation genotype phenotype correlation human hydrophilicity hydrophobicity in vitro study infant male mutational analysis optical coherence tomography phenotypic variation preschool child protein analysis protein function protein localization protein secondary structure protein secretion refraction error retinoschisis RS1 gene sequence homology visual acuity X chromosome linked disorder adolescent adult animal chemistry Chlorocebus aethiops CV-1 cell line genetics genotype metabolism molecular model mutation phenotype protein conformation retinoschisis secretion (process) severity of illness index young adult Adolescent Adult Animals Cercopithecus aethiops Child Child, Preschool COS Cells Eye Proteins Genotype Humans Male Models, Molecular Mutation Phenotype Protein Conformation Retinoschisis Severity of Illness Index Young Adult
spellingShingle	retinoschisin eye protein RS1 protein, human amino acid substitution Article bioinformatics carboxy terminal sequence cell culture child clinical article cohort analysis computer model controlled study disease severity electroretinogram electroretinography frameshift mutation gene gene sequence genetic engineering genetic screening genetic variation genotype phenotype correlation human hydrophilicity hydrophobicity in vitro study infant male mutational analysis optical coherence tomography phenotypic variation preschool child protein analysis protein function protein localization protein secondary structure protein secretion refraction error retinoschisis RS1 gene sequence homology visual acuity X chromosome linked disorder adolescent adult animal chemistry Chlorocebus aethiops CV-1 cell line genetics genotype metabolism molecular model mutation phenotype protein conformation retinoschisis secretion (process) severity of illness index young adult Adolescent Adult Animals Cercopithecus aethiops Child Child, Preschool COS Cells Eye Proteins Genotype Humans Male Models, Molecular Mutation Phenotype Protein Conformation Retinoschisis Severity of Illness Index Young Adult Sudha D. Neriyanuri S. Sachidanandam R. Natarajan S.N. Gandra M. Tharigopala A. Sivashanmugam M. Alameen M. Vetrivel U. Gopal L. Khetan V. Raman R. Sen P. Chidambaram S. Arunachalam J.P. Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?
description	10.1371/journal.pone.0198086
author2	OPHTHALMOLOGY
author_facet	OPHTHALMOLOGY Sudha D. Neriyanuri S. Sachidanandam R. Natarajan S.N. Gandra M. Tharigopala A. Sivashanmugam M. Alameen M. Vetrivel U. Gopal L. Khetan V. Raman R. Sen P. Chidambaram S. Arunachalam J.P.
format	Article
author	Sudha D. Neriyanuri S. Sachidanandam R. Natarajan S.N. Gandra M. Tharigopala A. Sivashanmugam M. Alameen M. Vetrivel U. Gopal L. Khetan V. Raman R. Sen P. Chidambaram S. Arunachalam J.P.
author_sort	Sudha D.
title	Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?
title_short	Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?
title_full	Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?
title_fullStr	Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?
title_full_unstemmed	Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?
title_sort	understanding variable disease severity in x-linked retinoschisis: does rs1 secretory mechanism determine disease severity?
publishDate	2019
url	https://scholarbank.nus.edu.sg/handle/10635/161224
_version_	1800913784407064576

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

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