Autor: "Handley MT" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.
Autorzy:: Handley MT; MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.; Section of Genetics, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, United Kigndom.
Reddy K; MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.; University of Florida College of Medicine, Center for NeuroGenetics, Gainesville, United States of America.
Wills J; Edinburgh Cancer Research Centre, MRC Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Rosser E; Department of Clinical Genetics, Great Ormond St Hospital, London, United Kingdom.
Kamath A; Medical School, University of Oxford, John Radcliffe Hospital Oxford United Kingdom.
Halachev M; MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Falkous G; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom.
Williams D; Department of Clinical Genetics, Birmingham Women's and Children's NHSFT, Birmingham, United Kingdom.
Cox P; Department of Histopathology, Birmingham Women's and Children's NHSFT, Birmingham United Kingdom.
Meynert A; MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Raymond ES; MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Morrison H; MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Brown S; MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Allan E; CBS-IGMM Transgenic Unit, University of Edinburgh, Edinburgh, United Kingdom.
Aligianis I; MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Jackson AP; MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Ramsahoye BH; Centre for Genetic and Experimental Medicine, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
von Kriegsheim A; Edinburgh Cancer Research Centre, MRC Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom.
Finch AJ; Edinburgh Cancer Research Centre, MRC Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
FitzPatrick DR; MRC Human Genetics Unit, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.; Pokaż więcej
Źródło:: PLoS genetics [PLoS Genet] 2019 Mar 11; Vol. 15 (3), pp. e1007605. Date of Electronic Publication: 2019 Mar 11 (Print Publication: 2019).
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Cardiomyopathy, Dilated/*enzymology
Cardiomyopathy, Dilated/*genetics
Cataract/*enzymology
Cataract/*genetics
Hypogonadism/*enzymology
Hypogonadism/*genetics
Intellectual Disability/*enzymology
Intellectual Disability/*genetics
Metabolism, Inborn Errors/*enzymology
Metabolism, Inborn Errors/*genetics
Pyrophosphatases/*deficiency
Animals ; Base Sequence ; Child, Preschool ; DNA Mutational Analysis ; DNA, Mitochondrial/genetics ; DNA, Mitochondrial/metabolism ; Female ; Homozygote ; Humans ; Inosine/metabolism ; Male ; Mice ; Mice, Knockout ; Mouse Embryonic Stem Cells/enzymology ; Mutation ; Pedigree ; Pyrophosphatases/genetics ; RNA/genetics ; RNA/metabolism ; Exome Sequencing
SCR Disease Name:: Familial dilated cardiomyopathy; Inosine Triphosphatase Deficiency; Martsolf syndrome

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Skocz do pozycji: 2.

Tytuł:: Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome.
Autorzy:: Handley MT; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Edinburgh, UK.
Mégarbané A; Institut Médical Jérôme Lejeune et Fondation Jérome Lejeune Paris, France ; Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph Beirut, Lebanon.
Meynert AM; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Edinburgh, UK.
Brown S; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Edinburgh, UK.
Freyer E; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Edinburgh, UK.
Taylor MS; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Edinburgh, UK.
Jackson IJ; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Edinburgh, UK.
Aligianis IA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh Edinburgh, UK.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2014 Jul; Vol. 2 (4), pp. 319-25. Date of Electronic Publication: 2014 Mar 11.
Typ publikacji:: Journal Article