FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation - Test2 - elhamkhani - TriplyDB

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

http://www.wikidata.org/entity/Q24292446

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Long chain fatty Acyl-CoA synthetase 4 is a biomarker for and mediator of hormone resistance in human breast cancer Long-chain acyl-CoA synthetase 4 modulates prostaglandin E₂ release from human arterial smooth muscle cells Mammalian long-chain acyl-CoA synthetases Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13 Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes Revised nomenclature for the mammalian long-chain acyl-CoA synthetase gene family Rat long chain acyl-CoA synthetase 5, but not 1, 2, 3, or 4, complements Escherichia coli fadD AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis X-linked mental retardation (XLMR): from clinical conditions to cloned genes.Acyl-CoA synthesis, lipid metabolism and lipotoxicity.Long-chain acyl-CoA synthetases and fatty acid channeling Expression of Long-chain Fatty Acyl-CoA Synthetase 4 in Breast and Prostate Cancers Is Associated with Sex Steroid Hormone Receptor Negativity.Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation High-resolution genomic microarrays for X-linked mental retardation.Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder Diversity and history of the long-chain acyl-CoA synthetase (Acsl) gene family in vertebrates.Mutagenesis of rat acyl-CoA synthetase 4 indicates amino acids that contribute to fatty acid binding.Lack of Dietary Polyunsaturated Fatty Acids Causes Synapse Dysfunction in the Drosophila Visual System.Valnoctamide, a non-teratogenic amide derivative of valproic acid, inhibits arachidonic acid activation in vitro by recombinant acyl-CoA synthetase-4 X linked mental retardation: a clinical guide.Polyunsaturated fatty acids influence synaptojanin localization to regulate synaptic vesicle recycling.Phospholipases and fatty acid signalling in exocytosis.Genetic and environmental factors in complex neurodevelopmental disorders.Long-chain Acyl-CoA synthetase 4A regulates Smad activity and dorsoventral patterning in the zebrafish embryo.Acyl-CoA metabolism and partitioning.Inborn errors of cytoplasmic triglyceride metabolism.Molecular modeling studies of Fatty acyl-CoA synthetase (FadD13) from Mycobacterium tuberculosis--a potential target for the development of antitubercular drugs.Associating transcription factors and conserved RNA structures with gene regulation in the human brain.Tumor-suppressive functions of long-chain acyl-CoA synthetase 4 in gastric cancer.Overexpression of Acyl-CoA Ligase 4 (ACSL4) in Patients with Hepatocellular Carcinoma and its Prognosis.Analyses of mental dysfunction-related ACSl4 in Drosophila reveal its requirement for Dpp/BMP production and visual wiring in the brain.Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia.Effect of arachidonic acid reacylation on leukotriene biosynthesis in human neutrophils stimulated with granulocyte-macrophage colony-stimulating factor and formyl-methionyl-leucyl-phenylalanine.ACSL3;4 ligate CoA to AA to form AA-CoA Characterization of the porcine acyl-CoA synthetase long-chain 4 gene and its association with growth and meat quality traits.X inactivation testing for identifying a non-syndromic X-linked mental retardation gene.Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24.X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3.

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P2860

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

http://www.wikidata.org/entity/Q24292446

description

2002 nî lūn-bûn

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2002 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2002 թվականի ապրիլին հրատարակված գիտական հոդված

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2002年の論文

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2002年論文

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2002年论文

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name

FACL4, encoding fatty acid-CoA ...... ic X-linked mental retardation

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FACL4, encoding fatty acid-CoA ...... ic X-linked mental retardation

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FACL4, encoding fatty acid-CoA ...... ic X-linked mental retardation

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FACL4, encoding fatty acid-CoA ...... ic X-linked mental retardation

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FACL4, encoding fatty acid-CoA ...... ic X-linked mental retardation

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FACL4, encoding fatty acid-CoA ...... ic X-linked mental retardation

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FACL4, encoding fatty acid-CoA ...... ic X-linked mental retardation

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FACL4, encoding fatty acid-CoA ...... ic X-linked mental retardation

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FACL4, encoding fatty acid-CoA ...... ic X-linked mental retardation

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FACL4, encoding fatty acid-CoA ...... ic X-linked mental retardation

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FACL4, encoding fatty acid-CoA ...... ic X-linked mental retardation

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FACL4, encoding fatty acid-CoA ...... ic X-linked mental retardation

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Nature Genetics

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FACL4, encoding fatty acid-CoA ...... ic X-linked mental retardation

@en

P2093

Barbara Magi

http://www.w3.org/2001/XMLSchema#string

Cristina Bellan

http://www.w3.org/2001/XMLSchema#string

Helger G Yntema

http://www.w3.org/2001/XMLSchema#string

Ilaria Longo

http://www.w3.org/2001/XMLSchema#string

Jean E Schaffer

http://www.w3.org/2001/XMLSchema#string

Maddalena Muscettola

http://www.w3.org/2001/XMLSchema#string

Marie-Pierre Moizard

http://www.w3.org/2001/XMLSchema#string

Mirella Bruttini

http://www.w3.org/2001/XMLSchema#string

Sarah E Lewis

http://www.w3.org/2001/XMLSchema#string

Vincent des Portes

http://www.w3.org/2001/XMLSchema#string

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436-40

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10.1038/NG857

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4

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30

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Hans-Hilger Ropers

Jean-Pierre Fryns

Martine Raynaud

Alessandra Renieri

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2002-04-01T00:00:00Z

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1018677339

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11889465

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P921

very long-chain fatty acid-CoA ligase activity

Acyl-CoA synthetase long chain family member 4