A point mutation in the FMR-1 gene associated with fragile X mental retardation. - Wikidata - awgldk - TriplyDB

A point mutation in the FMR-1 gene associated with fragile X mental retardation.

A point mutation in the FMR-1 gene associated with fragile X mental retardation.

http://www.wikidata.org/entity/Q41579799

about

A family of insulin-like growth factor II mRNA-binding proteins represses translation in late development Sik (BRK) phosphorylates Sam68 in the nucleus and negatively regulates its RNA binding ability The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2 Identification of two KH domain proteins in the alpha-globin mRNP stability complex FXR1, an autosomal homolog of the fragile X mental retardation gene Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P KH domain: one motif, two folds Fragile X syndrome: the FMR1 CGG repeat distribution among world populations FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism Advances in the treatment of fragile X syndrome Self-association of the single-KH-domain family members Sam68, GRP33, GLD-1, and Qk1: role of the KH domain Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal subunits and the interactions among them Sam68 regulates a set of alternatively spliced exons during neurogenesis Targeting fragile X.The new (dis)order in RNA regulation Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP Cellular and synaptic network defects in autism Learning and behavioral deficits associated with the absence of the fragile X mental retardation protein: what a fly and mouse model can teach us.The pathophysiology of fragile X (and what it teaches us about synapses)Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders The FMRP regulon: from targets to disease convergence The unstable repeats--three evolving faces of neurological disease Fragile X mental retardation protein regulates olfactory sensitivity but not odorant discrimination Crystal structure of ERA: a GTPase-dependent cell cycle regulator containing an RNA binding motif Structure-function studies of FMRP RGG peptide recognition of an RNA duplex-quadruplex junction Crystal structure of a putative quorum sensing-regulated protein (PA3611) from the Pseudomonas-specific DUF4146 family Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders Fragile X mental retardation protein: A paradigm for translational control by RNA-binding proteins Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes.Nuclear Fragile X Mental Retardation Protein is localized to Cajal bodies Fragile X mental retardation protein stimulates ribonucleoprotein assembly of influenza A virus Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures Dicer-derived microRNAs are utilized by the fragile X mental retardation protein for assembly on target RNAs In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein FMRP targets distinct mRNA sequence elements to regulate protein expression Fragile X mental retardation protein FMRP binds mRNAs in the nucleus Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations The fragile X gene and its function From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome

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P2860

A point mutation in the FMR-1 gene associated with fragile X mental retardation.

http://www.wikidata.org/entity/Q41579799

description

1993 nî lūn-bûn

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1993年の論文

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1993年論文

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1993年論文

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1993年論文

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1993年論文

@zh-mo

1993年論文

@zh-tw

1993年论文

@wuu

1993年论文

@zh

1993年论文

@zh-cn

name

A point mutation in the FMR-1 gene associated with fragile X mental retardation.

@en

type

label

A point mutation in the FMR-1 gene associated with fragile X mental retardation.

@en

prefLabel

A point mutation in the FMR-1 gene associated with fragile X mental retardation.

@en

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P1433

Nature Genetics

P1476

A point mutation in the FMR-1 gene associated with fragile X mental retardation.

@en

P2093

De Boulle K

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Hendrickx J

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Oostra BA

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Reyniers E

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Van Roy B

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Van den Bos F

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Verkerk AJ

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Vits L

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Willems PJ

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de Graaff E

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P2860

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis.

Absence of expression of the FMR-1 gene in fragile X syndrome.

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.

Fragile X syndrome without CCG amplification has an FMR1 deletion.

P2888

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31-35

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10.1038/NG0193-31

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1

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3

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14707966

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1018483390

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8490650

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