Search Results - "Gu, Yanghong"
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CXCR6 is required for antitumor efficacy of intratumoral CD8+ T cell
Published in Journal for immunotherapy of cancer (01-08-2021)“…BackgroundIncreasing infiltration of CD8+ T cells within tumor tissue predicts a better prognosis and is essential for response to checkpoint blocking therapy…”
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Intercepting IRE1 kinase‐FMRP signaling prevents atherosclerosis progression
Published in EMBO molecular medicine (07-04-2022)“…Fragile X Mental Retardation protein (FMRP), widely known for its role in hereditary intellectual disability, is an RNA‐binding protein (RBP) that controls…”
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Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR
Published in The Journal of molecular diagnostics : JMD (01-08-2021)“…Moderate to hyper-expansion of trinucleotide repeats at the FRAXA and FRAXE fragile sites, with or without concurrent hypermethylation, has been associated…”
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Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation
Published in American journal of medical genetics. Part A (15-06-2007)“…Chromosomal microarray analysis (CMA) by array‐based comparative genomic hybridization (CGH) is a new clinical test for the detection of well‐characterized…”
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Metabolic pathways modulate the neuronal toxicity associated with fragile X-associated tremor/ataxia syndrome
Published in Human molecular genetics (15-03-2019)“…Abstract Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder that affects premutation carriers (55–200 CGG…”
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Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome
Published in Proceedings of the National Academy of Sciences - PNAS (31-05-2022)“…Fragile X–associated tremor/ataxia syndrome (FXTAS) is a debilitating late-onset neurodegenerative disease in premutation carriers of the expanded CGG repeat…”
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MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes
Published in European journal of human genetics : EJHG (01-06-2015)“…Individuals with autism spectrum disorders (ASD) who have an identifiable single-gene neurodevelopmental disorder (NDD), such as fragile X syndrome (FXS,…”
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Impaired Conditioned Fear and Enhanced Long-Term Potentiation in Fmr2 Knock-Out Mice
Published in The Journal of neuroscience (01-04-2002)“…FRAXE mental retardation results from expansion and methylation of a CCG trinucleotide repeat located in exon 1 of the X-linked FMR2 gene, which results in…”
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Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island
Published in Nature genetics (01-05-1996)“…Five folate-sensitive fragile sites have been identified at the molecular level to date. Each is characterized by an expanded and methylated trinucleotide…”
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130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus
Published in Genome research (01-08-1995)“…Deficiency of IDs activity results in Hunter Syndrome (mucopolysaccharidosis type II), a fatal X-linked recessive disorder. We report characterization of 28…”
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Impaired Conditioned Fear and Enhanced Long-Term Potentiation inFmr2 Knock-Out Mice
Published in The Journal of neuroscience (01-04-2002)“…FRAXE mental retardation results from expansion and methylation of a CCG trinucleotide repeat located in exon 1 of the X-linked FMR2 gene, which results in…”
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Cytogenetic analysis of obsessive-compulsive disorder (OCD): Identification of a FRAXE fragile site
Published in American journal of medical genetics. Part A (01-04-2003)“…Obsessive‐compulsive disorder (OCD) is a chronic psychiatric disease characterized by recurrent obsessions, compulsions, or both. The prevalence rate of OCD is…”
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A de novo deletion in FMR1 in a patient with developmental delay
Published in Human molecular genetics (01-09-1994)Get more information
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