A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
about
Biosynthesis and deficiencies of glycosylphosphatidylinositolHuman genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)Glycosyl phosphatidylinositol anchor biosynthesis is essential for maintaining epithelial integrity during Caenorhabditis elegans embryogenesisThe genotypic and phenotypic spectrum of PIGA deficiency.Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathyAnalysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.Biosynthesis of GPI-anchored proteins: special emphasis on GPI lipid remodeling.Novel genetic causes for cerebral visual impairmentpigk Mutation underlies macho behavior and affects Rohon-Beard cell excitability.Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficienciesBoth PIGA and PIGL mutations cause GPI-a deficient isolates in the Tk6 cell line.HSV1 MicroRNA Modulation of GPI Anchoring and Downstream Immune Evasion.Glycosylphosphatidylinositol Anchor Modification Machinery Deficiency Is Responsible for the Formation of Pro-Prion Protein (PrP) in BxPC-3 Protein and Increases Cancer Cell Motility.Cerebral visual impairment and intellectual disability caused by PGAP1 variantsPathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.Disulfide Bond Formation and N-Glycosylation Modulate Protein-Protein Interactions in GPI-Transamidase (GPIT).GPI transamidase and GPI anchored proteins: oncogenes and biomarkers for cancer.Solving glycosylation disorders: fundamental approaches reveal complicated pathways.Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype.Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3.
P2860
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P2860
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
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2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
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2013年學術文章
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name
A novel intellectual disabilit ...... homozygous mutations in PIGT.
@en
A novel intellectual disabilit ...... homozygous mutations in PIGT.
@nl
type
label
A novel intellectual disabilit ...... homozygous mutations in PIGT.
@en
A novel intellectual disabilit ...... homozygous mutations in PIGT.
@nl
prefLabel
A novel intellectual disabilit ...... homozygous mutations in PIGT.
@en
A novel intellectual disabilit ...... homozygous mutations in PIGT.
@nl
P2093
P2860
P50
P1476
A novel intellectual disabilit ...... homozygous mutations in PIGT.
@en
P2093
Britt-Marie Anderlid
Elisabeth Blennow
G Christoph Korenke
Malin Kvarnung
Markus Bergmann
Samuel C C Chiang
Tommy Stödberg
P2860
P304
P356
10.1136/JMEDGENET-2013-101654
P407
P577
2013-05-01T00:00:00Z