Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

Item

http://www.wikidata.org/entity/Q27008228

Q27008228

about

Resources, challenges and way forward in rare mitochondrial diseases research New insights in Rett syndrome using pathway analysis for transcriptomics data A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations.Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database.HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor A comprehensive collection of annotations to interpret sequence variation in human mitochondrial transfer RNAs.Innovative genomic collaboration using the GENESIS (GEM.app) platform A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest PGC-1α regulates the cell cycle through ATP and ROS in CH1 cells.MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases.Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.Emerging aspects of treatment in mitochondrial disorders.Bridging two scholarly islands enriches both: COI DNA barcodes for species identification versus human mitochondrial variation for the study of migrations and pathologies Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.A comprehensive characterization of rare mitochondrial DNA variants in neuroblastoma.Participant-driven matchmaking in the genomic era.Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.hsa-miR-4485 regulates mitochondrial functions and inhibits the tumorigenicity of breast cancer cells.MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.Potential for Mitochondrial DNA Sequencing in the Differential Diagnosis of Gynaecological Malignancies Mitochondrial Genomics: A complex field now coming of age

P2860

Q26800675-0A849FC8-46FD-4D0F-A6FD-B14EDDC35351 Q28530264-F2B436B4-115C-4536-83BE-2042AA080F2E Q29465776-48F0329C-1611-4129-95B1-AED554842D98 Q30401750-5530AC0F-673F-468D-B7BA-B3CB19B4BBE7 Q31145454-9FD883CB-7C62-41D5-8D3B-0C39CB70A7E7 Q36276480-DAA66402-1628-45A6-9DF6-8033C74B9244 Q36380415-16F2EF23-55FA-40E1-B7D4-D4E12383DFCF Q36422135-2CEB272A-5D00-4218-950A-A491B0397AE9 Q36590740-F0176DBE-2195-42EC-AD8F-E84D8F89B6C3 Q36840213-76C0482A-0079-46C0-9AFF-0745021CE019 Q36859401-8D6A752F-606F-497D-8B5D-AA6DDBF5D7B5 Q37589775-C4025448-97E0-451A-A1E9-A5F0BA4A2E03 Q38472989-20424393-EB69-495F-89CF-EE0A4B809299 Q38671254-4A06ECC0-52E0-4380-87AD-ECB1E197860D Q38963725-E365F3F8-0629-480C-A8A4-A33515A1A7E3 Q39649613-E5CE4482-4320-477C-AB94-F5B2A3DA4612 Q40648775-CBEF522D-72C8-4D71-B1D6-15B0ECEC8D7D Q41920819-665D5EA5-F93D-4B45-BE9E-D5EE6AF2A6A7 Q51129878-862DB401-F58B-4414-ACA5-A8123914129F Q52655841-E7EAAB11-BCE7-48EE-B0A5-893D0D878482 Q56365972-F5324C14-0EA6-451F-8EA5-F98CAD4C8FA7 Q58573044-7B86E86B-2EB5-49B3-B36F-B92FE69EC84C

P2860

Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

Item

http://www.wikidata.org/entity/Q27008228

description

2015 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի մարտին հրատարակված գիտական հոդված

@hy

article scientifique (publié 2015-03)

@fr

articolo scientifico (pubblicato il 2015-03)

@it

artigo científico (publicado na 2015-03)

@pt

artículu científicu espublizáu en 2015

@ast

im März 2015 veröffentlichter wissenschaftlicher Artikel

@de

scientific article (publication date: March 2015)

@en

vedecký článok (publikovaný 2015-03)

@sk

videnskabelig artikel (udgivet 2015-03)

@da