A CELSR1 variant in a patient with pulmonary arterial hypertension
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DOI: 10.1111/cge.14046
Abstract: To the Editor Pulmonary arterial hypertension (PAH) is a rare and devastating disease, resulting from progressive obliteration of small pulmonary arteries leading to right heart failure. PAH can occur in the context of family history… read more here.
Keywords: heart; pulmonary arterial; pah; gene ... See more keywords
Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome.
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DOI: 10.1111/cge.14364
Abstract: Lymphedema is a troubling condition present in many disorders including the rare genetic disorder known as Phelan-McDermid syndrome (PMS). The neurobehavioral features of PMS, also known as 22q13.3 deletion syndrome, have been investigated, but little… read more here.
Keywords: celsr1; phelan mcdermid; lymphedema; mcdermid syndrome ... See more keywords
Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants
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DOI: 10.1136/jmg-2023-109171
Abstract: Background Primary lymphoedema (PL) is a chronic, debilitating disease caused by developmental and functional defects of the lymphatic system. It is marked by an accumulation of interstitial fluid, fat and tissue fibrosis. There is no… read more here.
Keywords: celsr1; primary lymphoedema; junction obstruction; celsr1 variants ... See more keywords
Celsr1 and Celsr2 exhibit distinct adhesive interactions and contributions to planar cell polarity
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DOI: 10.3389/fcell.2022.1064907
Abstract: Cadherin EGF LAG seven-pass G-type receptor (Celsr) proteins 1-3 comprise a subgroup of adhesion GPCRs whose functions range from planar cell polarity (PCP) signaling to axon pathfinding and ciliogenesis. Like its Drosophila ortholog, Flamingo, mammalian… read more here.
Keywords: celsr1; planar cell; pcp; celsr1 celsr2 ... See more keywords