Cargando…

Association of Variants in PLD1, 3p24.1, and 10q11.21 Regions With Hirschsprung’s Disease in Han Chinese Population

Background and Aims: Hirschsprung’s disease (HSCR) is a rare genetically heterogeneous congenital disorder. A recent study based on whole genome sequencing demonstrated that common variants at four novel loci, which contained two intronic variants on CASQ2 and PLD1, and intergenic variants located b...

Descripción completa

Detalles Bibliográficos
Autores principales:	Niu, Wei-Bo, Bai, Mei-Rong, Song, Huan-Lei, Lu, Yan-Jiao, Wu, Wen-Jie, Gong, Yi-Ming, Yu, Xian-Xian, Wei, Zhi-Liang, Yu, Wen-Wen, Gu, Bei-Lin, Cai, Wei, Chu, Xun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7381268/ https://www.ncbi.nlm.nih.gov/pubmed/32765588 http://dx.doi.org/10.3389/fgene.2020.00738

Ejemplares similares

Association Analysis of Variants of DSCAM and BACE2 With Hirschsprung Disease Susceptibility in Han Chinese and Functional Evaluation in Zebrafish
por: Lu, Yan-Jiao, et al.
Publicado: (2021)

Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation
por: Mishra, Divya, et al.
Publicado: (2014)

Association of single nucleotide polymorphism rs2076185 in chromosome 6P24.1 with premature coronary artery diseases in Chinese Han population
por: Liu, Xin, et al.
Publicado: (2016)

Common variants at 2q37.3, 8q24.21, 15q21.3, and 16q24.1 influence chronic lymphocytic leukemia risk
por: Crowther-Swanepoel, Dalemari, et al.
Publicado: (2010)

Genome‐wide association study identifies gastric cancer susceptibility loci at 12q24.11‐12 and 20q11.21
por: Tanikawa, Chizu, et al.
Publicado: (2018)

Common Genetic Variations in Patched1 (PTCH1) Gene and Risk of Hirschsprung Disease in the Han Chinese Population
por: Wang, Yang, et al.
Publicado: (2013)

Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family
por: Wang, Yanan, et al.
Publicado: (2023)

Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV
por: Szafranski, Przemyslaw, et al.
Publicado: (2016)

An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms
por: Iourov, Ivan Y., et al.
Publicado: (2013)

Cell Models for Chromosome 20q11.21 Amplification and Drug Sensitivities in Colorectal Cancer
por: Voutsadakis, Ioannis A.
Publicado: (2021)

Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder
por: Michelson, Marina, et al.
Publicado: (2022)

USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1
por: Jaworek, Thomas J., et al.
Publicado: (2012)

Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype
por: Song, Jieping, et al.
Publicado: (2022)

Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion
por: Hoshina, Takao, et al.
Publicado: (2019)

Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease
por: Dharmadhikari, Avinash V., et al.
Publicado: (2015)

Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion
por: Tassano, Elisa, et al.
Publicado: (2014)

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett’s esophagus
Publicado: (2012)

Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities
por: Guy, Carrie, et al.
Publicado: (2015)

Evaluation of loss of heterozygosity of chromosome 22q11.21 region in patients with congenital heart diseases
por: Behiry, Eman G., et al.
Publicado: (2018)

Functional in vivo and in vitro effects of 20q11.21 genetic aberrations on hPSC differentiation
por: Jo, Hye-Yeong, et al.
Publicado: (2020)

Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report
por: Dell’Edera, Domenico, et al.
Publicado: (2021)

A Swedish Familial Genome-Wide Haplotype Analysis Identified Five Novel Breast Cancer Susceptibility Loci on 9p24.3, 11q22.3, 15q11.2, 16q24.1 and Xq21.31
por: Barnekow, Elin, et al.
Publicado: (2023)

Mosaic duplication of 8q24.1q24.3 detected by chromosomal microarray but not karyotyping in two unrelated fetuses with cardiac defects
por: Lin, Shaobin, et al.
Publicado: (2021)

ERα-related chromothripsis enhances concordant gene transcription on chromosome 17q11.1-q24.1 in luminal breast cancer
por: Lin, Chun-Lin, et al.
Publicado: (2020)

Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin’s Lymphoma
por: Frampton, Matthew, et al.
Publicado: (2013)

Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis
por: Farshidfar, Farshad, et al.
Publicado: (2022)

Haploinsufficiencies of FOXF1, FOXC2 and FOXL1 genes originated from deleted 16q24.1q24.2 fragment related with alveolar capillary dysplasia with misalignment of pulmonary veins and lymphedema-distichiasis syndrome: relationship to phenotype
por: Wang, Xuezhen, et al.
Publicado: (2022)

A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report
por: Palumbo, Orazio, et al.
Publicado: (2012)

Frequent allelic losses at 11q24.1–q25 in young women with breast cancer: association with poor survival
por: Gentile, M, et al.
Publicado: (1999)

The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma
por: Gimelli, Stefania, et al.
Publicado: (2009)

Prenatal detection of a 7q11.21 microdeletion (517–605 kb): A variant with normal characteristics at birth (STROBE)
por: Zhang, Hongguo, et al.
Publicado: (2021)

Common Variation at 1q24.1 (ALDH9A1) Is a Potential Risk Factor for Renal Cancer
por: Henrion, Marc Y. R., et al.
Publicado: (2015)

Gain of 20q11.21 in Human Pluripotent Stem Cells Impairs TGF-β-Dependent Neuroectodermal Commitment
por: Markouli, C., et al.
Publicado: (2019)

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy
por: Manolakos, Emmanouil, et al.
Publicado: (2011)

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy
por: Manolakos, Emmanouil, et al.
Publicado: (2011)

Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1
por: Burn, Sabrina C., et al.
Publicado: (2018)

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite
por: Dharmadhikari, Avinash V, et al.
Publicado: (2014)

Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis
por: Farshidfar, Farshad, et al.
Publicado: (2022)

Identification of prefoldin amplification (1q23.3-q24.1) in bladder cancer using comparative genomic hybridization (CGH) arrays of urinary DNA
por: López, Virginia, et al.
Publicado: (2013)

Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes
por: Garabedian, Matthew J., et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_crlc7tavc2vbmttju1j8dkpq7l