Výsledky vyhledávání - "Tanwar, Himani"

Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA

Autor: Tanwar, Himani, Kumar, D. Thirumal, Doss, C. George Priya, Zayed, Hatem

Publikováno v: Metabolic Brain Disease

Mucopolysaccharidosis (MPS) IIIA, also known as Sanfilippo syndrome type A, is a severe, progressive disease that affects the central nervous system (CNS). MPS IIIA is inherited in an autosomal recessive manner and is caused by a deficiency in the ly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19360d9475fe0ddb38109ef5b0529855

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Kniha

Chapter Eight - Computational Resources for Predicting Protein–Protein Interactions

Autor: Tanwar, Himani, George Priya Doss, C.

Publikováno v: In Advances in Protein Chemistry and Structural Biology 2018 110:251-275

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Akademický článek

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Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach

Autor: P., Sneha, D., Kumar Thirumal, Tanwar, Himani, R., Siva, C., George Priya Doss, Zayed, Hatem

Larsen syndrome (LRS) is a rare genetic disease associated with variable manifestations including skeletal malformations, dislocations of the large joints, and notable changes in facial and limb features. Genetic variants in the Filamin B (FLNB) gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1664::42b9705d47263a785d56377125633718
https://hdl.handle.net/10576/5486

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Akademický článek

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Screening of mutations affecting protein stability and dynamics of FGFR1—A simulation analysis

Autor: Pretty Raju Mathew, B. Rajith, N R Sadhana, Tanwar Himani, C. George Priya Doss, Anand Solomon Raju, Denise William, I P Dike, K Apoorva, Nimisha Garwasis

Publikováno v: Applied and Translational Genomics, Vol 1, Iss C, Pp 37-43 (2012)
Applied & Translational Genomics

Single amino acid substitutions in Fibroblast Growth Factor Receptor 1 (FGFR1) destabilize protein and have been implicated in several genetic disorders like various forms of cancer, Kallamann syndrome, Pfeiffer syndrome, Jackson Weiss syndrome, etc.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5c7bec5113fe45f2e831d8b5c6c99da
http://www.sciencedirect.com/science/article/pii/S2212066112000099

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