المؤلفون: Tassanakijpanich N; Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat Yai, Thailand.; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA., McKenzie FJ; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA.; University of California, Davis, School of Medicine, Sacramento, California, USA., McLennan YA; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA.; Department of Pediatrics, University of California, Davis, School of Medicine, Sacramento, California, USA., Makhoul E; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA.; Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Sacramento, California, USA., Tassone F; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA.; Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Sacramento, California, USA., Jasoliya MJ; Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Sacramento, California, USA., Romney C; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA., Petrasic IC; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA.; University of California, Davis, School of Medicine, Sacramento, California, USA., Napalinga K; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA.; MedMom Institute for Human Development, Pasig City, Philippines., Buchanan CB; Greenwood Genetic Center, Greenville, South Carolina, USA., Hagerman P; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA.; Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Sacramento, California, USA., Hagerman R; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA rjhagerman@ucdavis.edu.; Department of Pediatrics, University of California, Davis, School of Medicine, Sacramento, California, USA., Casanova EL; Department of Biomedical Sciences, University of South Carolina School of Medicine Greenville, Greenville, South Carolina, USA.

المصدر: Journal of medical genetics [J Med Genet] 2022 Jul; Vol. 59 (7), pp. 687-690. Date of Electronic Publication: 2021 Jun 30.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Ehlers-Danlos Syndrome*/complications , Ehlers-Danlos Syndrome*/diagnosis , Ehlers-Danlos Syndrome*/genetics , Fragile X Syndrome*/complications , Fragile X Syndrome*/genetics , Fragile X Syndrome*/pathology, Child, Preschool ; Female ; Fragile X Mental Retardation Protein/genetics ; Heterozygote ; Humans ; Male ; Phenotype ; Trinucleotide Repeat Expansion/genetics

SCR Disease Name: Ehlers-Danlos syndrome type 3

المؤلفون: Jasoliya MJ; Department of Molecular Biosciences, University of California School of Veterinary Medicine, Davis, CA 95616, USA., McMackin MZ; Department of Molecular Biosciences, University of California School of Veterinary Medicine, Davis, CA 95616, USA., Henderson CK; Department of Molecular Biosciences, University of California School of Veterinary Medicine, Davis, CA 95616, USA., Perlman SL; Department of Neurology, University of California School of Medicine, Los Angeles, CA 90095, USA., Cortopassi GA; Department of Molecular Biosciences, University of California School of Veterinary Medicine, Davis, CA 95616, USA.

المصدر: Human molecular genetics [Hum Mol Genet] 2017 Jul 15; Vol. 26 (14), pp. 2627-2633.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Organelle Biogenesis*, Iron-Binding Proteins/*metabolism , Mitochondria/*metabolism, Animals ; Cells, Cultured ; Disease Models, Animal ; Fibroblasts/metabolism ; Fibroblasts/physiology ; Friedreich Ataxia/genetics ; Gene Expression ; Genes, Mitochondrial ; Humans ; Iron-Binding Proteins/genetics ; Mice ; Mitochondria/genetics ; Mitochondrial Proteins/metabolism ; Frataxin