Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model
about
Male-biased aganglionic megacolon in the TashT mouse line due to perturbation of silencer elements in a large gene desert of chromosome 10A collagen VI-dependent pathogenic mechanism for Hirschsprung's disease.Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liabilityEffects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung diseaseEnteric neuron imbalance and proximal dysmotility in ganglionated intestine of the Sox10Dom/+ Hirschsprung mouse model.Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms.Contrasting genetic architectures in different mouse reference populations used for studying complex traits.Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patientsNovel mutation-deletion in the PHOX2B gene of the patient diagnosed with Neuroblastoma, Hirschsprung's Disease, and Congenital Central Hypoventilation Syndrome (NB-HSCR-CCHS) Cluster.Effects of SEMA3 polymorphisms in Hirschsprung disease patients.A Novel Zebrafish ret Heterozygous Model of Hirschsprung Disease Identifies a Functional Role for mapk10 as a Modifier of Enteric Nervous System Phenotype SeverityExome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.Pigmentation-based insertional mutagenesis is a simple and potent screening approach for identifying neurocristopathy-associated genes in mice.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Familial Hirschsprung's disease: a systematic review.Search for the missing lncs: gene regulatory networks in neural crest development and long non-coding RNA biomarkers of Hirschsprung's disease.Gene-environment interactions and the enteric nervous system: Neural plasticity and Hirschsprung disease preventionHirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives.Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.Nidogen-1 is a common target of microRNAs MiR-192/215 in the pathogenesis of Hirschsprung's disease.Lentiviral labeling of mouse and human enteric nervous system stem cells for regenerative medicine studies.Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease.Adaptive combination of Bayes factors as a powerful method for the joint analysis of rare and common variants.Hirschsprung's disease, Down syndrome, and missing heritability: too much collagen slows migration.Sporadic Hirschsprung Disease: Mutational Spectrum and Novel Candidate Genes Revealed by Next-generation Sequencing.Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.Association of NRG1 and AUTS2 genetic polymorphisms with Hirschsprung disease in a South Chinese population.The impact of down-regulated SK3 expressions on Hirschsprung disease.The challenges of closing an ileostomy in patients with total intestinal aganglionosis after small bowel transplant.Hirschsprung disease - integrating basic science and clinical medicine to improve outcomes.RET somatic mutations are underrecognized in Hirschsprung disease.Testing the Ret and Sema3d genetic interaction in mouse enteric nervous system development.Common genetic variants in GAL, GAP43 and NRSN1 and interaction networks confer susceptibility to Hirschsprung disease.Gene editing in the context of an increasingly complex genomeThe Role of Genetic Interactions in Neurodevelopmental DisordersAn Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung DiseaseNRG1 variant effects in patients with Hirschsprung disease
P2860
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P2860
Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model
description
2013 nî lūn-bûn
@nan
2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Contribution of rare and commo ...... irschsprung disease as a model
@ast
Contribution of rare and commo ...... irschsprung disease as a model
@en
Contribution of rare and commo ...... irschsprung disease as a model
@nl
type
label
Contribution of rare and commo ...... irschsprung disease as a model
@ast
Contribution of rare and commo ...... irschsprung disease as a model
@en
Contribution of rare and commo ...... irschsprung disease as a model
@nl
prefLabel
Contribution of rare and commo ...... irschsprung disease as a model
@ast
Contribution of rare and commo ...... irschsprung disease as a model
@en
Contribution of rare and commo ...... irschsprung disease as a model
@nl
P2093
P50
P1476
Contribution of rare and commo ...... irschsprung disease as a model
@en
P2093
Aravinda Chakravarti
Bart J L Eggen
Gerard J te Meerman
Guillermo Antiñolo
Maria M Alves
Maria-Mercè Garcia-Barcelo
Paola Griseri
Raquel M Fernández
Rutger W W Brouwer
Salud Borrego
P304
P356
10.1016/J.YDBIO.2013.05.019
P407
P50
P577
2013-05-23T00:00:00Z