Výsledky vyhledávání - "Mohd Hussain Shah"

Akademický článek

Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma

Autor: Mohd Hussain Shah, Manojkumar Kumaran, Prakash Chermakani, Mohideen Abdul Kader, R Ramakrishnan, Subbiah R Krishnadas, Bharanidharan Devarajan, Periasamy Sundaresan

Publikováno v: Indian Journal of Ophthalmology, Vol 69, Iss 9, Pp 2461-2468 (2021)

Purpose: To identify the pathogenic variants associated with primary open-angle glaucoma (POAG) using whole-exome sequencing (WES) data of a large South Indian family. Methods: We recruited a large five-generation South Indian family (n = 84) with a

Externí odkaz: https://doaj.org/article/a4c7553f22ef49fea6b782e656a4797a

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Akademický článek

Multimodal imaging and functional analysis of the chick NMDA retinal damage model.

Autor: Tyler Heisler-Taylor, Richard Wan, Elizabeth G Urbanski, Sumaya Hamadmad, Mohd Hussain Shah, Hailey Wilson, Julie Racine, Colleen M Cebulla

Publikováno v: PLoS ONE, Vol 16, Iss 9, p e0257148 (2021)

ObjectivesThe chick is rapidly becoming a standardized preclinical model in vision research to study mechanisms of ocular disease. We seek to comprehensively evaluate the N-methyl-D-aspartate (NMDA) model of excitotoxic retinal damage using multimoda

Externí odkaz: https://doaj.org/article/d4a2f49ddb6a456998e93fcebae605cc

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Akademický článek

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.

Autor: Nivedita Singh, Pradeep Kallollimath, Mohd Hussain Shah, Saketh Kapoor, Vishwanath Kumble Bhat, Lakshminarayanapuram Gopal Viswanathan, Madhu Nagappa, Parayil S Bindu, Arun B Taly, Sanjib Sinha, Arun Kumar

Publikováno v: PLoS ONE, Vol 14, Iss 5, p e0215779 (2019)

Wilson disease (WD) is an autosomal recessive disorder, characterized by excessive deposition of copper in various parts of the body, mainly in the liver and brain. It is caused by mutations in ATP7B. We report here the genetic analysis of 102 WD fam

Externí odkaz: https://doaj.org/article/a81a5e7e58da43aa88d12f5f5c36f15d

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Akademický článek

Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.

Autor: Saketh Kapoor, Mohd Hussain Shah, Nivedita Singh, Mohammad Iqbal Rather, Vishwanath Bhat, Sindhura Gopinath, Parayil Sankaran Bindu, Arun B Taly, Sanjib Sinha, Madhu Nagappa, Rose Dawn Bharath, Anita Mahadevan, Gayathri Narayanappa, Yasha T Chickabasaviah, Arun Kumar

Publikováno v: PLoS ONE, Vol 11, Iss 5, p e0155605 (2016)

Mutations in PLA2G6 were identified in patients with a spectrum of neurodegenerative conditions, such as infantile neuroaxonal dystrophy (INAD), atypical late-onset neuroaxonal dystrophy (ANAD) and dystonia parkinsonism complex (DPC). However, there

Externí odkaz: https://doaj.org/article/c9cd827477da49d1ae272b6a360701a5

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Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma

Autor: Mohideen Abdul Kader, Renagappa Ramakrishnan, Subbiah. R. Krishnadas, Manojkumar Kumaran, Prakash Chermakani, Mohd Hussain Shah, Periasamy Sundaresan, Bharanidharan Devarajan

Publikováno v: Indian Journal of Ophthalmology, Vol 69, Iss 9, Pp 2461-2468 (2021)
Indian Journal of Ophthalmology

Purpose To identify the pathogenic variants associated with primary open-angle glaucoma (POAG) using whole-exome sequencing (WES) data of a large South Indian family. Methods We recruited a large five-generation South Indian family (n = 84) with a po

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9840a87c31c25a8c63b3e02fa60ca6c3
http://www.ijo.in/article.asp?issn=0301-4738

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Identification and characterization of variants and a novel 4 bp deletion in the regulatory region of

Autor: Mohd Hussain, Shah, Noemi, Tabanera, Subbaiah Ramasamy, Krishnadas, Manju R, Pillai, Paola, Bovolenta, Periasamy, Sundaresan

Publikováno v: Molecular Genetics & Genomic Medicine

Background Primary open‐angle glaucoma (POAG) is a complex disease of multigenic inheritance and the most common subtype of glaucoma. SIX6 encodes a transcription factor involved in retina, optic nerve, and pituitary development. Previous studies s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0287edd72f128b5d3c5a9832b61f2b9b
https://pubmed.ncbi.nlm.nih.gov/28717659

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Genetic analysis of ATP7B in 102 south Indian families with Wilson disease

Autor: Mohd Hussain Shah, Pradeep Kallollimath, Parayil Sankaran Bindu, Arun Kumar, Nivedita Singh, Sanjib Sinha, Saketh Kapoor, Madhu Nagappa, Lakshminarayanapuram Gopal Viswanathan, Vishwanath Kumble Bhat, Arun B Taly

Publikováno v: PLoS ONE
PLoS ONE, Vol 14, Iss 5, p e0215779 (2019)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5cda21b56db2e902e8545dba1d51cf9
https://doi.org/10.1371/journal.pone.0215779

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Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome

Autor: Srinivas G. Kodaganur, Vishwanath Kumble Bhat, Sagar J. Tontanahal, Astha Sarda, Mohd Hussain Shah, Arun Kumar

Publikováno v: Clinical Dysmorphology. 22:54-58

The objective of this study was to report the clinical phenotype and genetic analysis of two Indian families with Escobar syndrome (ES). The diagnosis of ES in both families was made on the basis of published clinical features. Blood samples were col

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33521289111b9dbee7b8071e3202171a
https://doi.org/10.1097/mcd.0b013e32835f9ac0

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