Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108725
Abstract: Background Joubert syndrome (JS) is a neurodevelopmental ciliopathy characterised by a distinctive mid-hindbrain malformation, the ‘molar tooth sign’. Over 40 JS-associated genes are known, accounting for two-thirds of cases. Methods While most variants are novel… read more here.
Keywords: founder; hypomorphic variants; joubert syndrome; genetic landscape ... See more keywords
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Physiology"
DOI: 10.3389/fphys.2019.00258
Abstract: PIEZO1 is a cation channel activated by mechanical force. It plays an important physiological role in several biological processes such as cardiovascular, renal, endothelial and hematopoietic systems. Two different diseases are associated with alteration in… read more here.
Keywords: function mutations; lymphatic dysplasia; piezo1 hypomorphic; dysplasia ... See more keywords