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6 documents found
1: Title: Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.
Authors: Ungar, Rachel A, et.al. .
Journal: American journal of medical genetics. Part A (Am J Med Genet A), 2018 .
Snippet: Four additional genes (SCN4A, LRP4, GDAP1L1, and SPTBN5) had rare, missense homozygous variants that we speculate may contribute to portions of the clinical phenotype.
Affiliation: Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health, Rockville, Maryland. National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland. Genomics Research Laboratory, Leidos Biomedical Research, Inc., NCI-Frederick, Frederick, Maryland. .
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2: Title: Predicting the functional states of human iPSC-derived neurons with single-cell RNA-seq and electrophysiology.
Authors: Bardy, C, et.al. .
Journal: Molecular psychiatry (Mol Psychiatry), Vol. 21 (11): 1573-1588, 2016 .
Snippet: As further proof of concept, we selected one of the potential neurophysiological biomarkers identified in this study-GDAP1L1-to isolate highly functional live human neurons in vitro.
Affiliation: Salk Institute for Biological Studies, Stanford Consortium for Regenerative Medicine, La Jolla, CA, USA. SAHMRI Mind & Brain, Laboratory for Human Neurophysiology and Genetics, School of Medicine Flinders University, Adelaide, SA, Australia. Division of Translational Neuroscience, Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands. Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA, USA. J. Craig Venter Institute, La Jolla, CA, USA. Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore and Molecular Engineering Laboratory, A*STAR, Singapore, Singapore. .
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3: Title: Genome-wide 5-hydroxymethylcytosine modification pattern is a novel epigenetic feature of globozoospermia.
Authors: Wang, Xiu-Xia, et.al. .
Journal: Oncotarget, Vol. 6 (9): 6535-43, 2015 .
Snippet: Here, utilizing the chemical labeling and biotin-enrichment approach followed by Illumina HiSeq sequencing, we showed that (i) 6664, 9029 and 6318 genes contain 5hmC in normal, abnormal, and globozoospermia sperm, respectively; (ii) some 5hmC-containing genes significantly involves in spermatogenesis, sperm motility and morphology, and gamete generation; (iii) 5hmC is exclusively localized in sperm intron; (iv) approximately 40% imprinted genes have 5hmC modification in sperm genomes, but globozoospermia sperm exhibiting a large portion of imprinted genes lose the 5hmC modification; (v) six imprinted genes showed different 5hmC patterns in abnormal sperm (GDAP1L1, GNAS, KCNK9, LIN28B, RB1, RTL1), and five imprinted genes showed different 5hmC patterns in globozoospermia sperm (KCNK9, LIN28B, RB1, SLC22A18, ZDBF2).
Affiliation: Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang 110004, China. Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 101300, China. Department of Cell Biology, Key Laboratory of Cell Biology, Ministry of Public Health, and Key Laboratory of Medical Cell Biology, Ministry of Education, China Medical University, Shenyang 110001, China. Department of Medicine, Brigham and Women's Hospital, Harvard Institutes of Medicine, Harvard Medical School, Boston, MA 02115, USA. .
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4: Title: The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease.
Authors: Niemann, Axel, et.al. .
Journal: Brain : a journal of neurology (Brain), Vol. 137 (Pt 3): 668-82, 2014 .
Snippet: Our findings demonstrate that Charcot-Marie-Tooth disease caused by mutations in GDAP1 leads to mild, persistent oxidative stress in the peripheral nervous system, which can be compensated by GDAP1L1 in the unaffected central nervous system.
Affiliation: 1 Institute of Molecular Health Sciences, Cell Biology, Department of Biology, ETH Zurich, Swiss Federal Institute of Technology, Switzerland, ETH-Hönggerberg, 8093 Zürich, Switzerland. .
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5: Title: Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase.
Authors: Shield, Alison J, et.al. .
Journal: Biochemical and biophysical research communications (Biochem Bioph Res Co), Vol. 347 (4): 859-66, 2006 .
Snippet: This protein, and its paralogue GDAP1L1, appear to be structurally related to the cytosolic glutathione S-transferases (GST) including an N-terminal thioredoxin fold domain with conserved active site residues.
Affiliation: Molecular Genetics Group, Division of Molecular Biosciences, John Curtin School of Medical Research, Australian National University, Canberra, ACT 2601, Australia. .
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6: Title: Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes.
Authors: Marco, Antonio, et.al. .
Journal: Molecular biology and evolution (Mol Biol Evol), Vol. 21 (1): 176-87, 2004 .
Snippet: We demonstrate that GDAP1 and GDAP1L1 do not belong to any of the known classes of GST genes.
Affiliation: Departamento de Genética, Universidad de Valencia, Valencia, Spain. .
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