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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Genet Med
February 2024
Yale University School of Medicine, Department of Pediatrics, New Haven, CT; Yale Pediatric Genomics Discovery Program, New Haven, CT. Electronic address:
Purpose: We sought to delineate a multisystem disorder caused by recessive cysteine-rich with epidermal growth factor-like domains 1 (CRELD1) gene variants.
Methods: The impact of CRELD1 variants was characterized through an international collaboration utilizing next-generation DNA sequencing, gene knockdown, and protein overexpression in Xenopus tropicalis, and in vitro analysis of patient immune cells.
Results: Biallelic variants in CRELD1 were found in 18 participants from 14 families.
Case-control association study of congenital heart disease from a tertiary paediatric cardiac centre from North India.
BMC Pediatr
June 2023
Sri Sathya Sai Sanjeevani International Centre for Child Heart Care & Research, NH-2, Delhi-Mathura Highway, Baghola, District Palwal, Haryana, Pin 121102, India.
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 disorder reiterate gene-environment interactions with periconceptional factors as risk conferring; and genetic analysis of both sporadic and familial forms of CHD suggest its multigenic basis.
View Article and Find Full Text PDFIdentification of Thrombosis-Related Genes in Patients with Advanced Gastric Cancer: Data from AGAMENON-SEOM Registry.
Biomedicines
January 2022
Centro Regional de Hemodonación, Department of Haematology and Medical Oncology, Hospital General Universitario Morales Meseguer, University of Murcia, IMIB-Arrixaca, 30003 Murcia, Spain.
Advanced gastric cancer is one of the most thrombogenic neoplasms. However, genetic mechanisms underlying this complication remain obscure, and the molecular and histological heterogeneity of this neoplasm hinder the identification of thrombotic biomarkers. Therefore, our main objective was to identify genes related to thrombosis regardless of Lauren subtypes.
View Article and Find Full Text PDFCreld1 regulates myocardial development and function.
J Mol Cell Cardiol
July 2021
Institute of Innate Immunity, Biophysical Imaging, Medical Faculty, University of Bonn, 53127 Bonn, Germany. Electronic address:
CRELD1 (Cysteine-Rich with EGF-Like Domains 1) is a risk gene for non-syndromic atrioventricular septal defects in human patients. In a mouse model, Creld1 has been shown to be essential for heart development, particularly in septum and valve formation. However, due to the embryonic lethality of global Creld1 knockout (KO) mice, its cell type-specific function during peri- and postnatal stages remains unknown.
View Article and Find Full Text PDFCRELD1 controls T cell homeostasis.
Nat Immunol
December 2020
Knapp Research Center, Section of Rheumatology, Department of Medicine, University of Chicago, Chicago, IL, USA.
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