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23 documents found
1: Title: Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.
Authors: Knaus, Alexej, et.al. .
Journal: Genome medicine (Genome Med), Vol. 10 (1): 3, 2018 .
Snippet: RESULTS: We found that certain malformations such as Morbus Hirschsprung and diaphragmatic defects are more likely to be associated with particular gene defects (PIGV, PGAP3, PIGN).
Affiliation: Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmedizin Berlin, 13353, Berlin, Germany. Max Planck Institute for Molecular Genetics, 14195, Berlin, Germany. Berlin-Brandenburg School for Regenerative Therapies, Charité Universitätsmedizin Berlin, 13353, Berlin, Germany. Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127, Bonn, Germany. Department of Neuropediatrics, University Medical Center Schleswig Holstein, 24105, Kiel, Germany. Berlin Institute of Health (BIH), 10178, Berlin, Germany. FDNA Inc., Boston, MA, USA. Unité de Neuropédiatrie, Université de Genève, CH-1211, Genève, Switzerland. Danish Epilepsy Centre, DK-4293, Dianalund, Denmark. Institute for Regional Health Services Research, University of Southern Denmark, DK-5000, Odense, Denmark. Department of Pediatrics, University Hospital of Hvidovre, 2650, Hvicovre, Denmark. Service de Génétique Médicale, Hôpital Purpan, CHU, 31059, Toulouse, France. Greenwood Genetic Center, SC29646, Greenwood, USA. Genetische Poliklinik, Universitätsklinik Heidelberg, 69120, Heidelberg, Germany. St. Bernward Krankenhaus, 31134, Hildesheim, Germany. Kinderkrankenhaus auf der Bult, Hannoversche Kinderheilanstalt, 30173, Hannover, Germany. Department for Clinical Genetics, Erasmus MC, 3000, Rotterdam, Netherlands. Institute of Mother and Child Department of Molecular Genetics, 01-211, Warsaw, Poland. Neurology Department, Lithuanian University of Health Sciences, 50009, Kaunas, Lithuania. Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany. Victorian Clinical Genetics Services, Royal Children's Hospital, MCRI, Parkville, Australia. Department of Clinical Genetics, Austin Health, Heidelberg, Australia. The Jackson Laboratory for Genomic Medicine, 06032, Farmington, USA. Departement of Neurology, Academic Center for Epileptology, 5590, Heeze, The Netherlands. Department of Neurology and Epileptology and Hertie Institute for Clinical Brain Research, University Tübingen, 72076, Tübingen, Germany. Pediatric Neurology, Children's Hospital of Philadelphia, 3401, Philadelphia, USA. Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmedizin Berlin, 13353, Berlin, Germany. denise.horn@charite.de. Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmedizin Berlin, 13353, Berlin, Germany. pkrawitz@uni-bonn.de. Max Planck Institute for Molecular Genetics, 14195, Berlin, Germany. pkrawitz@uni-bonn.de. Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127, Bonn, Germany. pkrawitz@uni-bonn.de. .
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2: Title: Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome.
Authors: Reynolds, Kara K, et.al. .
Journal: American journal of medical genetics. Part A (Am J Med Genet A), Vol. 173 (10): 2776-2781, 2017 .
Snippet: Hyperphosphatasia with mental retardation syndrome (HPMRS) is caused by mutations in PIGV and includes hyperphosphatasia as a diagnostic hallmark.
Affiliation: University of Wisconsin-Madison, Madison, Wisconsin. GeneDx, Gaithersburg, Maryland. Drexel University College of Medicine, Philadelphia, Pennsylvania. .
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3: Title: The Complete Genome Sequence of Plodia Interpunctella Granulovirus: Evidence for Horizontal Gene Transfer and Discovery of an Unusual Inhibitor-of-Apoptosis Gene.
Authors: Harrison, Robert L, et.al. .
Journal: PloS one, Vol. 11 (7): e0160389, 2016 .
Snippet: Phylogenetic analysis of baculovirus and insect IAP amino acid sequences suggested that the baculovirus IAP-3 genes and the PiGV ORF81 IAP homologue represent different lineages arising from more than one acquisition event.
Affiliation: Invasive Insect Biocontrol and Behavior Laboratory, Beltsville Agricultural Research Center, USDA Agricultural Research Service, Beltsville, Maryland, United States of America. Department of Biology, John Brown University, Siloam Springs, Arkansas, United States of America. .
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4: Title: Clinical and genetic analysis of two Chinese infants with Mabry syndrome.
Authors: Xue, Jiao, et.al. .
Journal: Brain & development (Brain Dev), Vol. 38 (9): 807-18, 2016 .
Snippet: Molecular genetic analysis revealed compound heterozygous mutations of PIGV or PIGO in our patients, including c.615C>G (p.Asn205Lys) and c.854A>G (p.Tyr285Cys) of PIGV in patient 1, and c.458T>C (p.Phe153Ser) and c.1355_1356del (p.Ala452Glyfs*52) of PIGO in patient 2. Additionally, a heterozygous c.2926G>A (Asp976Asn) of PCDH19 was identified in patient with PIGV mutations, the causative gene of Epilepsy and mental retardation limited to females (EFMR).
Affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, China. Department of Pediatrics, Peking University First Hospital, Beijing, China. Electronic address: zhixian.yang@163.com. .
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5: Title: Interaction of Insulin Resistance and Related Genetic Variants With Triglyceride-Associated Genetic Variants.
Authors: Klimentidis, Yann C, et.al. .
Journal: Circulation. Cardiovascular genetics (Circ Cardiovasc Genet), Vol. 9 (2): 154-61, 2016 .
Snippet: Individual SNPs contributing to this trend include those in/near GCKR, CILP2, and IRS1, whereas PIGV-NROB2 and LRPAP1 display an opposite trend of interaction.
Affiliation: From the Department of Epidemiology and Biostatistics, Mel and Enid Zuckerman College of Public Health, University of Arizona, Tucson. yann@email.arizona.edu. From the Department of Epidemiology and Biostatistics, Mel and Enid Zuckerman College of Public Health, University of Arizona, Tucson. .
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6: Title: Glycosyl phosphatidylinositol anchor biosynthesis is essential for maintaining epithelial integrity during Caenorhabditis elegans embryogenesis.
Authors: Budirahardja, Yemima, et.al. .
Journal: PLoS genetics (Plos Genet), Vol. 11 (3): e1005082, 2015 .
Snippet: Missense mutations in the human GPI biosynthesis enzyme pigv are associated with a multiple congenital malformation syndrome with a high frequency of Hirschsprung disease and renal anomalies.
Affiliation: Mechanobiology Institute, National University of Singapore, Singapore. Mechanobiology Institute, National University of Singapore, Singapore; Department of Biomedical Engineering, National University of Singapore, Singapore. .
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7: Title: Mutations in PIGL in a patient with Mabry syndrome.
Authors: Fujiwara, Ikuma, et.al. .
Journal: American journal of medical genetics. Part A (Am J Med Genet A), Vol. 167A (4): 777-85, 2015 .
Snippet: Recent studies have revealed mutations in PIGV, PIGW, PIGO, PGAP2, and PGAP3 (genes that encode molecules of the glycosylphosphatidylinositol (GPI)-anchor biosynthesis pathway) in patients with HPMRS.
Affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan. .
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8: Title: PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.
Authors: Nakamura, Kazuyuki, et.al. .
Journal: Epilepsia, Vol. 55 (2): e13-7, 2014 .
Snippet: Among them, mutations in PIGV and PIGO, which are involved in the late stages of GPI-anchor synthesis, and PGAP2, which is involved in fatty-acid GPI-anchor remodeling, are all causative for hyperphosphatasia with mental retardation syndrome (HPMRS).
Affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. .
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9: Title: Human intellectual disability genes form conserved functional modules in Drosophila.
Authors: Oortveld, Merel A W, et.al. .
Journal: PLoS genetics (Plos Genet), Vol. 9 (10): e1003911, 2013 .
Snippet: Novel links between ID genes successfully predicted that MYCN, PIGV and UPF3B regulate synapse development.
Affiliation: Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands. .
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10: Title: Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.
Authors: Horn, Denise, et.al. .
Journal: European journal of human genetics : EJHG (Eur J Hum Genet), Vol. 22 (6): 762-7, 2014 .
Snippet: Three different genes of the glycosylphosphatidylinositol anchor synthesis pathway, PIGV, PIGO, and PGAP2, have recently been implicated in hyperphosphatasia-mental retardation syndrome (HPMRS), also known as Mabry syndrome, a rare autosomal recessive form of intellectual disability.
Affiliation: Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmedizin Berlin, Berlin, Germany. Institut für Humangenetik Essen, Universitätsklinikum Essen, Essen, Germany. Clinical Genetics, Genetic Medicine, St Mary's Hospital, Manchester, UK. 1] Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia [2] University of Zagreb, School of Medicine, Zagreb, Croatia. University of Zagreb, School of Medicine, Zagreb, Croatia. Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia. Praxis für Humangenetik Erfurt, Erfurt, Germany. Praxis für Humangenetik Cottbus, Cottbus, Germany. Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Münster, Germany. .
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11: Title: Glycosylphosphatidylinositol mannosyltransferase II is the rate-limiting enzyme in glycosylphosphatidylinositol biosynthesis under limited dolichol-phosphate mannose availability.
Authors: Hirata, Tetsuya, et.al. .
Journal: Journal of biochemistry (J Biochem), Vol. 154 (3): 257-64, 2013 .
Snippet: Overexpression of PIGV, which encodes GPI mannosyltransferase II, restored the surface expression of CD59 and normalized the accumulation of GPI intermediates in the mutant cells.
Affiliation: Research Institute for Microbial Diseases and WPI Immunology Frontier Research Center, Osaka University, Osaka 565-0871, Japan. .
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12: Title: PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
Authors: Krawitz, Peter M, et.al. .
Journal: American journal of human genetics (Am J Hum Genet), Vol. 92 (4): 584-9, 2013 .
Snippet: To date, mutations have been identified in six genes (PIGA, PIGL, PIGM, PIGN, PIGO, and PIGV) encoding proteins in the GPI-anchor-synthesis pathway in individuals with severe neurological features, including seizures, muscular hypotonia, and intellectual disability.
Affiliation: Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, 13353 Berlin, Germany. .
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13: Title: Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Authors: Hansen, Lars, et.al. .
Journal: American journal of human genetics (Am J Hum Genet), Vol. 92 (4): 575-83, 2013 .
Snippet: Germline mutations in six genes (PIGA, PIGL, PIGM, PIGV, PIGN, and PIGO) in the ER-located part of the GPI-anchor-biosynthesis pathway have been reported, and all are associated with phenotypes extending from malformation and lethality to severe intellectual disability, epilepsy, minor dysmorphisms, and elevated alkaline phosphatase (ALP).
Affiliation: Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute, University of Copenhagen, Blegdamsvej 3B, DK-2200 Copenhagen N, Denmark. lah@sund.ku.dk .
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14: Title: 190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly.
Authors: Coutton, C, et.al. .
Journal: Clinical genetics (Clin Genet), Vol. 84 (6): 596-9, 2013 .
No Abstract available.
Affiliation: Laboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, Grenoble, France; Equipe "Génétique, Infertilité et Thérapeutique", Laboratoire AGIM, CNRS FRE3405, Grenoble, France; Université Joseph Fourier, Grenoble, France. .
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15: Title: Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
Authors: Krawitz, Peter M, et.al. .
Journal: American journal of human genetics (Am J Hum Genet), Vol. 91 (1): 146-51, 2012 .
Snippet: Hyperphosphatasia with mental retardation syndrome (HPMRS), an autosomal-recessive form of intellectual disability characterized by facial dysmorphism, seizures, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia), was recently shown to be caused by mutations in PIGV, a member of the glycosylphosphatidylinositol (GPI)-anchor-synthesis pathway.
Affiliation: Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, Berlin, Germany. .
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16: Title: Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).
Authors: Thompson, Miles D, et.al. .
Journal: American journal of medical genetics. Part A (Am J Med Genet A), Vol. 158A (3): 553-8, 2012 .
Snippet: Since slightly fewer than half of the nine cases presented in this report and our previous report [Thompson et al., 2010] have PIGV mutations, we suggest that other genes critical to GPI anchor biosynthesis are likely to be disrupted in some patients.
Affiliation: Department of Laboratory Medicine & Pathobiology, University of Toronto, Toronto, Ontario, Canada. miles.thompson@utoronto.ca .
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17: Title: Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.
Authors: Murakami, Yoshiko, et.al. .
Journal: The Journal of biological chemistry (J Biol Chem), Vol. 287 (9): 6318-25, 2012 .
Snippet: Hyperphosphatasia mental retardation syndrome (HPMR), an autosomal recessive disease characterized by mental retardation and elevated serum alkaline phosphatase (ALP) levels, is caused by mutations in the coding region of the phosphatidylinositol glycan anchor biosynthesis, class V (PIGV) gene, the product of which is a mannosyltransferase essential for glycosylphosphatidylinositol (GPI) biosynthesis.
Affiliation: Department of Immunoregulation, Research Institute for Microbial Diseases, and Laboratory of Immunoglycobiology, WPI Immunology Frontier Research Center, Osaka, Japan 565-0871, Japan. .
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18: Title: Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.
Authors: Horn, Denise, et.al. .
Journal: American journal of medical genetics. Part A (Am J Med Genet A), Vol. 155A (8): 1917-22, 2011 .
Snippet: By sequencing PIGV we detected compound heterozygous mutations c.467G>A and c.1022C>A in Patient 1 and a homozygous mutation c.1022C>A in Patient 2. We reviewed the eight reported cases with proven PIGV mutations and re-defined the phenotypic spectrum associated with PIGV mutations: intellectual disability, the distinct facial gestalt, brachytelephalangy, and hyperphosphatasia are constant features but also anorectal malformations and Hirschsprung disease as well as cleft lip/palate and hearing impairment should be considered as part of the clinical spectrum.
Affiliation: Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Berlin, Germany. denise.horn@charite.de .
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19: Title: Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Authors: Stockler, Sylvia, et.al. .
Journal: Molecular genetics and metabolism (Mol Genet Metab), Vol. 104 (1-2): 48-60, 2011 Sep-Oct .
Snippet: The differential diagnosis of pyridoxine or PLP responsive seizure disorders includes PLP-responsive epileptic encephalopathy due to PNPO deficiency, neonatal/infantile hypophosphatasia (TNSALP deficiency), familial hyperphosphatasia (PIGV deficiency), as well as yet unidentified conditions and nutritional vitamin B6 deficiency.
Affiliation: Division of Biochemical Diseases, British Columbia Children's Hospital, University of British Columbia, 4480 Oak Street, Vancouver BC, Canada V6H 3V4. sstockler@cw.bc.ca .
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20: Title: Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
Authors: Krawitz, Peter M, et.al. .
Journal: Nature genetics (Nat Genet), Vol. 42 (10): 827-9, 2010 .
Snippet: We performed whole-exome sequencing in three siblings of a nonconsanguineous union with HPMR and performed computational inference of regions identical by descent in all siblings to establish PIGV, encoding a member of the GPI-anchor biosynthesis pathway, as the gene mutated in HPMR.
Affiliation: Max Planck Institute for Molecular Genetics, Berlin, Germany. peter.robinson@charite.de .
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