Case–control association study of congenital heart disease from a tertiary paediatric cardiac centre from North India

Autor: Prachi Kukshal, Radha O Joshi, Ajay Kumar, Shadab Ahamad, Prabhatha Rashmi Murthy, Yogesh Sathe, Krishna Manohar, Soma Guhathakurta, Subramanian Chellappan

Publikováno v: BMC Pediatrics, Vol 23, Iss 1, Pp 1-10 (2023)

Abstract Background Congenital Heart diseases (CHDs) account for 1/3rd of all congenital birth defects. Etiopathogenesis of CHDs remain elusive despite extensive investigations globally. Phenotypic heterogeneity witnessed in this developmental disord

Externí odkaz: https://doaj.org/article/cca25bad0d3a47638c941bfda42d6b3a

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hReg-CNCC reconstructs a regulatory network in human cranial neural crest cells and annotates variants in a developmental context

Autor: Zhana Duren, Ziyi Xiong, Yong Wang, Sijia Wang, Wing Hung Wong, Zhanying Feng, Fan Liu

Publikováno v: Communications Biology, 4(1):442. Springer Nature
Communications Biology
Communications Biology, Vol 4, Iss 1, Pp 1-16 (2021)

Cranial Neural Crest Cells (CNCC) originate at the cephalic region from forebrain, midbrain and hindbrain, migrate into the developing craniofacial region, and subsequently differentiate into multiple cell types. The entire specification, delaminatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6c099ebfb49e6fb3465435002ba4454

The combined risk effect among BIN1, CLU, and APOE genes in Alzheimer’s disease

Autor: Lúcia Helena Sagrillo Pimassoni, Jucimara Ferreira Figueiredo Almeida, Renato Lírio Morelato, Lígia Ramos dos Santos, Flavia de Paula

Publikováno v: Genetics and Molecular Biology v.43 n.1 2020
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 43, Issue: 1, Article number: e20180320, Published: 16 MAR 2020

Genome-wide associations studies (GWAS) are detecting new variants associated with late-onset of Alzheimer’s disease (LOAD), a multifactorial neurodegenerative disorder. The variants rs744373 BIN1, rs11136000 CLU and rs3764650 ABCA7 uncovered by GW

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e268f7e800f377b78980f61c1e420c71
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100113

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