Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis
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Title
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis
Authors
Keywords
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Journal
HUMAN MOLECULAR GENETICS
Volume 24, Issue 13, Pages 3732-3741
Publisher
Oxford University Press (OUP)
Online
2015-04-09
DOI
10.1093/hmg/ddv117
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Note: Only part of the references are listed.- Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia
- (2015) Mark Nellist et al. MOLECULAR GENETICS AND METABOLISM
- Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology
- (2014) Ghayda M. Mirzaa et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- CODOC: efficient access, analysis and compression of depth of coverage signals
- (2014) Niko Popitsch BIOINFORMATICS
- The usefulness of whole-exome sequencing in routine clinical practice
- (2014) Alejandro Iglesias et al. GENETICS IN MEDICINE
- Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound
- (2014) K. J. Carss et al. HUMAN MOLECULAR GENETICS
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
- (2014) Yaping Yang et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
- (2014) Hane Lee et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Pharmacological and Genetic Targeting of the PI4KA Enzyme Reveals Its Important Role in Maintaining Plasma Membrane Phosphatidylinositol 4-Phosphate and Phosphatidylinositol 4,5-Bisphosphate Levels
- (2014) Naveen Bojjireddy et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- PI4KIII is required for cortical integrity and cell polarity during Drosophila oogenesis
- (2014) J. Tan et al. JOURNAL OF CELL SCIENCE
- Whole-genome sequence variation, population structure and demographic history of the Dutch population
- (2014) Laurent C Francioli et al. NATURE GENETICS
- Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications
- (2014) Andy Rimmer et al. NATURE GENETICS
- Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria
- (2014) S. Baulac et al. NEUROLOGY
- Structures of PI4KIII complexes show simultaneous recruitment of Rab11 and its effectors
- (2014) J. E. Burke et al. SCIENCE
- Biological Effects of COMT Haplotypes and Psychosis Risk in 22q11.2 Deletion Syndrome
- (2013) Doron Gothelf et al. BIOLOGICAL PSYCHIATRY
- Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria
- (2013) Stéphanie Valence et al. NEUROGENETICS
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
- (2013) Yaping Yang et al. NEW ENGLAND JOURNAL OF MEDICINE
- Phosphoinositides: Tiny Lipids With Giant Impact on Cell Regulation
- (2013) Tamas Balla PHYSIOLOGICAL REVIEWS
- Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes
- (2012) Mohammed S. Orloff et al. AMERICAN JOURNAL OF HUMAN GENETICS
- PtdIns4P synthesis by PI4KIIIα at the plasma membrane and its impact on plasma membrane identity
- (2012) Fubito Nakatsu et al. JOURNAL OF CELL BIOLOGY
- Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS
- (2012) Donna M McDonald-McGinn et al. JOURNAL OF MEDICAL GENETICS
- Evaluation of Phosphatidylinositol-4-Kinase III as a Hepatitis C Virus Drug Target
- (2012) F. H. Vaillancourt et al. JOURNAL OF VIROLOGY
- De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
- (2012) Jean-Baptiste Rivière et al. NATURE GENETICS
- De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
- (2012) Jeong Ho Lee et al. NATURE GENETICS
- Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations
- (2012) Annapurna Poduri et al. NEURON
- A homogeneous and nonisotopic assay for phosphatidylinositol 4-kinases
- (2011) Andrew W. Tai et al. ANALYTICAL BIOCHEMISTRY
- Phylogenomics of phosphoinositide lipid kinases: perspectives on the evolution of second messenger signaling and drug discovery
- (2011) James R Brown et al. BMC EVOLUTIONARY BIOLOGY
- A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome
- (2011) Marjorie J. Lindhurst et al. NEW ENGLAND JOURNAL OF MEDICINE
- Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients
- (2010) Richard J. Leventer et al. BRAIN
- Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
- (2010) Elizabeth A Worthey et al. GENETICS IN MEDICINE
- Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads
- (2010) G. Lunter et al. GENOME RESEARCH
- The p110δ structure: mechanisms for selectivity and potency of new PI(3)K inhibitors
- (2010) Alex Berndt et al. Nature Chemical Biology
- Crucial role of phosphatidylinositol 4-kinase III in development of zebrafish pectoral fin is linked to phosphoinositide 3-kinase and FGF signaling
- (2009) H. Ma et al. JOURNAL OF CELL SCIENCE
- Prenatal diagnosis of monosomy 1p36: A focus on brain abnormalities and a review of the literature
- (2008) Philippe M. Campeau et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Design of Drug-Resistant Alleles of Type-III Phosphatidylinositol 4-Kinases Using Mutagenesis and Molecular Modeling†
- (2008) Andras Balla et al. BIOCHEMISTRY
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