Mutations inPIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation

(2014) Malcolm F. Howard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

(2014) H. C. Martin et al.   HUMAN MOLECULAR GENETICS

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot–Marie–Tooth disease

(2014) Manoj P. Menezes et al.   NEUROMUSCULAR DISORDERS

Exosomes released in vitro from Epstein–Barr virus (EBV)-infected cells contain EBV-encoded latent phase mRNAs

(2013) Andrea Canitano et al.   CANCER LETTERS

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

(2013) Denise Horn et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations inPIGT

(2013) Malin Kvarnung et al.   JOURNAL OF MEDICAL GENETICS

Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations inPIGWis associated with West syndrome and hyperphosphatasia with mental retardation syndrome

(2013) Tomohiro Chiyonobu et al.   JOURNAL OF MEDICAL GENETICS

Vitamin B6-responsive epilepsy due to inherited GPI deficiency

(2013) I. Kuki et al.   NEUROLOGY

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

(2012) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

(2012) Peter M. Krawitz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

(2012) Bobby G. Ng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata

(2012) Noriyuki Kanzawa et al.   JOURNAL OF LIPID RESEARCH

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

(2011) G. Maydan et al.   JOURNAL OF MEDICAL GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Parallel sequencing used in detection of mosaic mutations: Comparison with four diagnostic DNA screening techniques

(2009) Anna Rohlin et al.   HUMAN MUTATION

Peroxisome dependency of alkyl-containing GPI-anchor biosynthesis in the endoplasmic reticulum

(2009) N. Kanzawa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Biosynthesis, Remodelling and Functions of Mammalian GPI-anchored Proteins: Recent Progress

(2008) T. Kinoshita et al.   JOURNAL OF BIOCHEMISTRY