Genetic Background of Hirschsprung Disease: A Bridge Between Basic Science and Clinical Application.

scientific article

Genetic Background of Hirschsprung Disease: A Bridge Between Basic Science and Clinical Application. is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1002/JCB.26149
P698PubMed publication ID28543993

P50authorAmir AvanQ39182983
Seyed Mahdi HassanianQ87772002
P2093author name stringMina Maftouh
Gordon A Ferns
Afsane Bahrami
Marjan Joodi
Mehrdad Moetamani-Ahmadi
P2860cites workGenome-wide copy number analysis uncovers a new HSCR gene: NRG3Q21144917
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndromeQ24297880
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systemsQ24533575
Neuregulin 1 and susceptibility to schizophreniaQ24616921
Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's diseaseQ28302375
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's diseaseQ28943464
Receptor-tyrosine-kinase- and Gβγ-mediated MAP kinase activation by a common signalling pathwayQ30193170
Copy number variants in candidate genes are genetic modifiers of Hirschsprung diseaseQ31021758
Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 regionQ33699316
Multi-locus Test Conditional on Confirmed Effects Leads to Increased Power in Genome-wide Association StudiesQ33754653
Fine mapping of the NRG1 Hirschsprung's disease locusQ33809286
Fine mapping of the 9q31 Hirschsprung's disease locus.Q33853719
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liabilityQ33960467
Specific serum microRNA profile in the molecular diagnosis of Hirschsprung's diseaseQ34311215
Exome sequencing identified NRG3 as a novel susceptible gene of Hirschsprung's disease in a Chinese populationQ34322326
A genome-wide association study identifies potential susceptibility loci for Hirschsprung diseaseQ34331688
A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinomaQ34355050
Aberrant methylation of the PTCH1 gene promoter region in aberrant crypt fociQ34402306
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.Q34411392
Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndromeQ34421272
The contribution of associated congenital anomalies in understanding Hirschsprung's diseaseQ34565449
Hirschsprung disease, associated syndromes and genetics: a reviewQ34584242
Genetic basis of Hirschsprung's disease.Q34986444
Common genetic variations in Patched1 (PTCH1) gene and risk of hirschsprung disease in the Han Chinese populationQ35000877
Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humansQ35187033
Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorderQ35992939
Effects of RET, NRG1 and NRG3 Polymorphisms in a Chinese Population with Hirschsprung DiseaseQ37679036
Alternative first exons of PTCH1 are differentially regulated in vivo and may confer different functions to the PTCH1 proteinQ38363444
RET and NRG1 interplay in Hirschsprung disease.Q39196293
Targeting the tumor microenvironment as a potential therapeutic approach in colorectal cancer: Rational and progress.Q39346123
Potential association of VAMP5 polymorphisms with total colonic aganglionosis in Hirschsprung diseaseQ40857463
Association Analysis of SLC6A20 Polymorphisms With Hirschsprung DiseaseQ40862912
RET in human development and oncogenesisQ41113046
Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung diseaseQ41518797
Genetic variants of IL-11 associated with risk of Hirschsprung diseaseQ41588843
Allelic loss at Drosophila patched gene is highly prevalent in Basal and squamous cell carcinomas of the skinQ42491008
Transethnic meta-analysis of genomewide association studiesQ42572583
Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease.Q43074007
Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung diseaseQ43074273
Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's diseaseQ43188332
Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung diseaseQ44159321
TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's diseaseQ46232266
Association of genetic polymorphisms in the RET-protooncogene and NRG1 with Hirschsprung disease in Thai patients.Q51809403
Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.Q51951191
Mutations in the NRG1 gene are associated with Hirschsprung diseaseQ57233951
Novel intronic polymorphisms in theRET proto-oncogene and their association with Hirschsprung diseaseQ57338186
P433issue1
P304page(s)28-33
P577publication date2017-06-27
P1433published inJournal of Cellular BiochemistryQ6294917
P1476titleGenetic Background of Hirschsprung Disease: A Bridge Between Basic Science and Clinical Application
P478volume119

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cites work (P2860)
Q55648915Association between DSCAM polymorphisms and non-syndromic Hirschsprung disease in Chinese population.
Q52562883Association of VAMP5 and MCC genetic polymorphisms with increased risk of Hirschsprung disease susceptibility in Southern Chinese children.
Q64058799Downregulation of Protein Tyrosine Phosphatase Receptor Type R Accounts for the Progression of Hirschsprung Disease
Q60300275Intestinal Duplication and Hirschsprung's Disease: An Extremely Rare and Misleading Combination