Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival

UniProt: the universal protein knowledgebase

(2018) The UniProt Consortium   NUCLEIC ACIDS RESEARCH

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

(2018) Alexej Knaus et al.   Genome Medicine

Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders

(2018) Kara Bellai-Dussault et al.   CLINICAL GENETICS

Mouse Genome Database (MGD)-2018: knowledgebase for the laboratory mouse

(2017) Cynthia L Smith et al.   NUCLEIC ACIDS RESEARCH

Generation of an immortalized mouse embryonic palatal mesenchyme cell line

(2017) Katherine A. Fantauzzo et al.   PLoS One

Paroxysmal nocturnal haemoglobinuria

(2017) Anita Hill et al.   Nature Reviews Disease Primers

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

(2016) Aleksandra Jezela-Stanek et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

A GPI processing phospholipase A2, PGAP6, modulates Nodal signaling in embryos by shedding CRIPTO

(2016) Gun-Hee Lee et al.   JOURNAL OF CELL BIOLOGY

A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family

(2016) Muhammad Imran Naseer et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

The role of folate metabolism in orofacial development and clefting

(2015) Stacey E. Wahl et al.   DEVELOPMENTAL BIOLOGY

The genotypic and phenotypic spectrum of PIGA deficiency

(2015) Maja Tarailo-Graovac et al.   Orphanet Journal of Rare Diseases

Novel insights in folate receptors and transporters: implications for disease and treatment of immune diseases and cancer

(2015) Gerrit Jansen et al.   PTERIDINES

Glycosyl Phosphatidylinositol Anchor Biosynthesis Is Essential for Maintaining Epithelial Integrity during Caenorhabditis elegans Embryogenesis

(2015) Yemima Budirahardja et al.   PLoS Genetics

Biosynthesis and deficiencies of glycosylphosphatidylinositol

(2014) Taroh KINOSHITA   PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES

PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome

(2013) Peter M. Krawitz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability

(2013) Lars Hansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

EBSeq: an empirical Bayes hierarchical model for inference in RNA-seq experiments

(2013) Ning Leng et al.   BIOINFORMATICS

Folate, Homocysteine and the Cardiac Neural Crest

(2013) Thomas H. Rosenquist   DEVELOPMENTAL DYNAMICS

Deciphering the Mechanisms of Developmental Disorders (DMDD): a new programme for phenotyping embryonic lethal mice

(2013) T. Mohun et al.   Disease Models & Mechanisms

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

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

Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene

(2012) A. G. Bassuk et al.   HUMAN MOLECULAR GENETICS

Defects in GPI biosynthesis perturb Cripto signaling during forebrain development in two new mouse models of holoprosencephaly

(2012) D. M. McKean et al.   Biology Open

RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome

(2011) Bo Li et al.   BMC BIOINFORMATICS

Focusing Forward Genetics: A Tripartite ENU Screen for Neurodevelopmental Mutations in the Mouse

(2011) R. W. Stottmann et al.   GENETICS

Xenopus Reduced Folate Carrier Regulates Neural Crest Development Epigenetically

(2011) Jiejing Li et al.   PLoS One

The relationship between sonic Hedgehog signaling, cilia, and neural tube defects

(2010) Jennifer N. Murdoch et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Biogenesis of GPI-anchored proteins is essential for surface expression of sodium channels in zebrafish Rohon-Beard neurons to respond to mechanosensory stimulation

(2010) Y. Nakano et al.   DEVELOPMENT

Alx3-deficient mice exhibit folic acid-resistant craniofacial midline and neural tube closure defects

(2010) Sita Lakhwani et al.   DEVELOPMENTAL BIOLOGY

High-affinity folate receptor in cardiac neural crest migration: A gene knockdown model using siRNA

(2010) Thomas H. Rosenquist et al.   DEVELOPMENTAL DYNAMICS

Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass

(2009) Robert J Munroe et al.   BMC DEVELOPMENTAL BIOLOGY

Convergent extension movements in growth plate chondrocytes require gpi-anchored cell surface proteins

(2009) M. J. Ahrens et al.   DEVELOPMENT

Cdx2 regulation of posterior development through non-Hox targets

(2009) J. G. A. Savory et al.   DEVELOPMENT

Blastocyst lineage formation, early embryonic asymmetries and axis patterning in the mouse

(2009) J. Rossant et al.   DEVELOPMENT

Genetic or nutritional disorders in homocysteine or folate metabolism increase protein N-homocysteinylation in mice

(2009) Hieronim Jakubowski et al.   FASEB JOURNAL

ToppGene Suite for gene list enrichment analysis and candidate gene prioritization

(2009) J. Chen et al.   NUCLEIC ACIDS RESEARCH

Wnt Signaling Is Regulated by Endoplasmic Reticulum Retention

(2009) J. Susie Zoltewicz et al.   PLoS One

Trophoblast Differentiation Defect in Human Embryonic Stem Cells Lacking PIG-A and GPI-Anchored Cell-Surface Proteins

(2008) Guibin Chen et al.   Cell Stem Cell

Glypican-3 Inhibits Hedgehog Signaling during Development by Competing with Patched for Hedgehog Binding

(2008) Mariana I. Capurro et al.   DEVELOPMENTAL CELL