Výsledky vyhledávání - "Ramachander V"

Akademický článek

Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent.

Autor: Duraisamy AJ; PerkinElmer Genomics, Revvity Omics, Chennai, India. Electronic address: arul.duraisamy@revvity.com., Liu R; Revvity Omics, Pittsburgh, Pennsylvania., Sureshkumar S; PerkinElmer Genomics, Revvity Omics, Chennai, India., Rose R; PerkinElmer Genomics, Revvity Omics, Chennai, India., Jagannathan L; PerkinElmer Genomics, Revvity Omics, Chennai, India., da Silva C; Revvity Omics, Pittsburgh, Pennsylvania., Coovadia A; Revvity Omics, Pittsburgh, Pennsylvania., Ramachander V; PerkinElmer Genomics, Revvity Omics, Chennai, India., Chandrasekar S; PerkinElmer Genomics, Revvity Omics, Chennai, India., Raja I; PerkinElmer Genomics, Revvity Omics, Chennai, India., Sajnani M; PerkinElmer Genomics, Revvity Omics, Chennai, India., Selvaraj SM; PerkinElmer Genomics, Revvity Omics, Chennai, India., Narang B; PerkinElmer Genomics, Revvity Omics, Chennai, India., Darvishi K; Revvity Omics, Pittsburgh, Pennsylvania., Bhayal AC; PerkinElmer Genomics, Revvity Omics, Chennai, India., Katikala L; Revvity Omics, Pittsburgh, Pennsylvania., Guo F; Revvity Omics, Pittsburgh, Pennsylvania., Chen-Deutsch X; Revvity Omics, Pittsburgh, Pennsylvania., Balciuniene J; Revvity Omics, Pittsburgh, Pennsylvania., Ma Z; Revvity Omics, Pittsburgh, Pennsylvania., Nallamilli BRR; Revvity Omics, Pittsburgh, Pennsylvania., Bean L; Revvity Omics, Pittsburgh, Pennsylvania., Collins C; Revvity Omics, Pittsburgh, Pennsylvania., Hegde M; Revvity Omics, Pittsburgh, Pennsylvania.

Publikováno v: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2024 Jun; Vol. 26 (6), pp. 510-519. Date of Electronic Publication: 2024 Apr 04.

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Akademický článek

Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies.

Autor: Nallamilli BRR; Revvity Omics, Pittsburgh, Pennsylvania, USA., Pan Y; Revvity Omics, Pittsburgh, Pennsylvania, USA., Sniderman King L; Sanofi, Cambridge, Massachusetts, USA., Jagannathan L; Revvity Omics, Pittsburgh, Pennsylvania, USA., Ramachander V; Revvity Omics, Pittsburgh, Pennsylvania, USA., Lucas A; Sanofi, Cambridge, Massachusetts, USA., Markind J; Sanofi, Cambridge, Massachusetts, USA., Colzani R; Sanofi, Cambridge, Massachusetts, USA., Hegde M; Revvity Omics, Pittsburgh, Pennsylvania, USA.

Publikováno v: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Nov; Vol. 10 (11), pp. 2092-2104. Date of Electronic Publication: 2023 Sep 08.

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Akademický článek

Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis.

Autor: Sniderman King L; Sanofi, Cambridge, MA, USA. Electronic address: Lisa.Sniderman-King@sanofi.com., Pan Y; PerkinElmer Genomics, Pittsburgh, PA, USA., Nallamilli BRR; PerkinElmer Genomics, Pittsburgh, PA, USA., Hegde M; PerkinElmer Genomics, Pittsburgh, PA, USA., Jagannathan L; PerkinElmer Genomics, Pittsburgh, PA, USA., Ramachander V; PerkinElmer Genomics, Pittsburgh, PA, USA., Lucas A; Sanofi, Cambridge, MA, USA., Markind J; Sanofi, Cambridge, MA, USA., Colzani R; Sanofi, Cambridge, MA, USA.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2023 May; Vol. 139 (1), pp. 107565. Date of Electronic Publication: 2023 Apr 05.

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Akademický článek

Werner syndrome protein prevents DNA breaks upon chromatin structure alteration.

Autor: Turaga, Ramachander V. N.¹, Massip, Laurent¹, Chavez, Alejandro², Johnson, F. Brad², Lebel, Michel¹ michel.lebel@crhdq.ulaval.ca

Publikováno v: Aging Cell. Aug2007, Vol. 6 Issue 4, p471-481. 11p. 1 Color Photograph, 3 Black and White Photographs, 4 Graphs.

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Akademický článek

Expression profiling of mouse embryonicfibroblasts with a deletion in the helicase domainof the Werner Syndrome gene homologuetreated with hydrogen peroxide.

Autor: Labbé, Adam¹, Turaga, Ramachander V. N.¹, Paquet, Éric R.¹, Garand, Chantal¹, Lebel, Michel¹ michel.lebel@crhdq.ulaval.ca

Publikováno v: BMC Genomics. 2010, Vol. 11, p127-136. 10p.

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Akademický článek

A single NGS-based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.

Autor: Nallamilli BRR; PerkinElmer Genomics, PerkinElmer Inc, Waltham, Massachusetts, USA., Chaubey A; PerkinElmer Genomics, PerkinElmer Inc, Waltham, Massachusetts, USA., Valencia CA; PerkinElmer Genomics, PerkinElmer Inc, Waltham, Massachusetts, USA., Stansberry L; PerkinElmer Genomics, PerkinElmer Inc, Waltham, Massachusetts, USA., Behlmann AM; PerkinElmer Genomics, PerkinElmer Inc, Waltham, Massachusetts, USA., Ma Z; PerkinElmer Genomics, PerkinElmer Inc, Waltham, Massachusetts, USA., Mathur A; PerkinElmer Genomics, PerkinElmer Inc, Waltham, Massachusetts, USA., Shenoy S; PerkinElmer Genomics, PerkinElmer Inc, Waltham, Massachusetts, USA., Ganapathy V; Mercer University, Atlanta, Georgia, USA., Jagannathan L; PerkinElmer Genomics, PerkinElmer Inc, Waltham, Massachusetts, USA., Ramachander V; PerkinElmer Genomics, PerkinElmer Inc, Waltham, Massachusetts, USA., Ferlini A; Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy., Bean L; PerkinElmer Genomics, PerkinElmer Inc, Waltham, Massachusetts, USA., Hegde M; PerkinElmer Genomics, PerkinElmer Inc, Waltham, Massachusetts, USA.

Publikováno v: Human mutation [Hum Mutat] 2021 May; Vol. 42 (5), pp. 626-638. Date of Electronic Publication: 2021 Mar 19.

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Werner syndrome protein prevents DNA breaks upon chromatin structure alteration

Autor: Ramachander V N Turaga, F. Brad Johnson, Laurent Massip, Alejandro Chavez, Michel Lebel

Publikováno v: Aging Cell. 6:471-481

Summary Werner syndrome is a rare disorder characterized by genome instability and the premature onset of several pathologies associated with aging. The gene responsible for Werner syndrome codes for a RecQ-type DNA helicase and is believed to be inv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69ad696f3a1416403ce0fbf58738e689
https://doi.org/10.1111/j.1474-9726.2007.00301.x

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Increased insulin, triglycerides, reactive oxygen species, and cardiac fibrosis in mice with a mutation in the helicase domain of the Werner syndrome gene homologue

Autor: François Deschênes, Chantal Garand, Michel Lebel, Laurent Massip, Eric Thorin, Ramachander V N Turaga

Publikováno v: Experimental Gerontology. 41:157-168

Werner Syndrome (WS) is a rare disorder characterized by the premature onset of a number of age-related diseases. The gene responsible for WS encodes a DNA helicase/exonuclease protein. Previously, we generated a mouse model lacking part of the helic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9126a6519c3ff100f5b334448626e2bc
https://doi.org/10.1016/j.exger.2005.10.011

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Depletion of WRN protein causes RACK1 to activate several protein kinase C isoforms

Autor: Adam Labbé, Michel Lebel, Laurent Massip, Ramachander V N Turaga, E Perreault, Chantal Garand, Vilhelm A. Bohr

Werner's syndrome (WS) is a rare autosomal disease characterized by the premature onset of several age-associated pathologies. The protein defective in patients with WS (WRN) is a helicase/exonuclease involved in DNA repair, replication, transcriptio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4221449fa3d5d507ca84c94e32e50f68
https://europepmc.org/articles/PMC4586175/

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The Werner syndrome protein affects the expression of genes involved in adipogenesis and inflammation in addition to cell cycle and DNA damage responses

Autor: Michel Lebel, F. Brad Johnson, Eric Paquet, Jean-Yves Masson, Ramachander V N Turaga, Chantal Garand, Julien Vignard, Mari Sild

Publikováno v: Cell Cycle 13 (8), 2080-2092. (2009)
Cell Cycle
Cell Cycle, Taylor & Francis, 2009, 8 (13), pp.2080-2092. ⟨10.4161/cc.8.13.8925⟩

International audience; Werner syndrome (WS) is characterized by the premature onset of several age-associated pathologies. The protein deficient in WS (WRN) is a RecQ-type DNA helicase involved in DNA repair, replication, telomere maintenance and tr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cbf11d3960a9614181b40dbc86bf7f7
http://prodinra.inra.fr/record/369618

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