Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
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Biosynthesis and deficiencies of glycosylphosphatidylinositolHuman genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)The Implicitome: A Resource for Rationalizing Gene-Disease AssociationsThe genotypic and phenotypic spectrum of PIGA deficiency.Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathyA hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC modelDelineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.PIGN gene expression aberration is associated with genomic instability and leukemic progression in acute myeloid leukemia with myelodysplastic features.Molecular switching system using glycosylphosphatidylinositol to select cells highly expressing recombinant proteinsBiosynthesis of GPI-anchored proteins: special emphasis on GPI lipid remodeling.New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.Quantitative profiling of brain lipid raft proteome in a mouse model of fragile X syndromepigk Mutation underlies macho behavior and affects Rohon-Beard cell excitability.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.Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.Making headway with genetic diagnostics of intellectual disabilities.Engineering subtle targeted mutations into the mouse genome.Solving glycosylation disorders: fundamental approaches reveal complicated pathways.Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.Rare diseases in clinical endocrinology: a taxonomic classification system.Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation SyndromePGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.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.Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disability.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.A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers.Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3.A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels.DNA methylation alterations induced by transient exposure of MCF-7 cells to maghemite nanoparticles.PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.
P2860
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P2860
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Hypomorphic mutations in PGAP2 ...... ssive intellectual disability.
@ast
Hypomorphic mutations in PGAP2 ...... ssive intellectual disability.
@en
type
label
Hypomorphic mutations in PGAP2 ...... ssive intellectual disability.
@ast
Hypomorphic mutations in PGAP2 ...... ssive intellectual disability.
@en
prefLabel
Hypomorphic mutations in PGAP2 ...... ssive intellectual disability.
@ast
Hypomorphic mutations in PGAP2 ...... ssive intellectual disability.
@en
P2093
P2860
P50
P1476
Hypomorphic mutations in PGAP2 ...... ssive intellectual disability.
@en
P2093
Hasan Tawamie
Lars Hansen
Michael Aigner
Safia Muhammad
Shahid Mahmood Baig
Shoaib ur Rehman
Stefanie Schaffer
Taroh Kinoshita
Yoshiko Murakami
P2860
P304
P356
10.1016/J.AJHG.2013.03.008
P407
P577
2013-04-01T00:00:00Z