Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer.
about
Asymmetrical distribution of non-conserved regulatory sequences at PHOX2B is reflected at the ENCODE loci and illuminates a possible genome-wide trendGenomic views of distant-acting enhancersTranscriptional Dynamics at Brain Enhancers: from Functional Specialization to Neurodegeneration2013 William Allan Award: My multifactorial journeyHuman GLI3 intragenic conserved non-coding sequences are tissue-specific enhancers.Gene-centric characteristics of genome-wide association studiesNon-cell-autonomous retinoid signaling is crucial for renal development.Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liabilityEnhancer chip: detecting human copy number variations in regulatory elementsWhole-genome haplotyping approaches and genomic medicine.Enhancer variants: evaluating functions in common disease.Steroid hormone modulation of RET through two estrogen responsive enhancers in breast cancer.Enhancers in embryonic stem cells are enriched for transposable elements and genetic variations associated with cancers.A liver enhancer in the fibrinogen gene cluster.Functional Characterization of Schizophrenia-Associated Variation in CACNA1C.Identification and functional studies of regulatory variants responsible for the association of NRG3 with a delusion phenotype in schizophrenia.RET receptor signaling: dysfunction in thyroid cancer and Hirschsprung's disease.From DNA to RNA to disease and back: the 'central dogma' of regulatory disease variation.Assaying the regulatory potential of mammalian conserved non-coding sequences in human cellsMutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locusGenetic and epigenetic factors affect RET gene expression in breast cancer cell lines and influence survival in patients.Motifs and cis-regulatory modules mediating the expression of genes co-expressed in presynaptic neurons.Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung diseaseCis-regulatory mutations in human disease.Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.Disruption of long-distance highly conserved noncoding elements in neurocristopathies.Genomic approaches towards finding cis-regulatory modules in animalsChromosomal and related Mendelian syndromes associated with Hirschsprung's disease.Building a brain in the gut: development of the enteric nervous system.Understanding the Dynamics of Gene Regulatory Systems; Characterisation and Clinical Relevance of cis-Regulatory Polymorphisms.Alzheimer's risk variants in the clusterin gene are associated with alternative splicing.Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease.RET and NRG1 interplay in Hirschsprung disease.Transcriptional enhancement by GATA1-occupied DNA segments is strongly associated with evolutionary constraint on the binding site motif.Discovery of functional non-coding conserved regions in the α-synuclein gene locus.Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b.Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease.DiseaseEnhancer: a resource of human disease-associated enhancer catalog.Gut feelings: Studying enteric nervous system development, function, and disease in the zebrafish model system.
P2860
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P2860
Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Evaluation of the RET regulato ...... of a HSCR-implicated enhancer.
@en
Evaluation of the RET regulato ...... of a HSCR-implicated enhancer.
@nl
type
label
Evaluation of the RET regulato ...... of a HSCR-implicated enhancer.
@en
Evaluation of the RET regulato ...... of a HSCR-implicated enhancer.
@nl
prefLabel
Evaluation of the RET regulato ...... of a HSCR-implicated enhancer.
@en
Evaluation of the RET regulato ...... of a HSCR-implicated enhancer.
@nl
P2093
P356
P1476
Evaluation of the RET regulato ...... of a HSCR-implicated enhancer.
@en
P2093
Andrew S McCallion
Aravinda Chakravarti
Elizabeth A Grice
Erin S Rochelle
P304
P356
10.1093/HMG/DDI408
P577
2005-11-03T00:00:00Z