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1
Published in 2021 at "Clinical Genetics"
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…
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Keywords:
heart;
pulmonary arterial;
pah;
gene ... See more keywords
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2
Published in 2023 at "Clinical genetics"
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…
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Keywords:
celsr1;
phelan mcdermid;
lymphedema;
mcdermid syndrome ... See more keywords
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2
Published in 2023 at "Journal of Medical Genetics"
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…
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Keywords:
celsr1;
primary lymphoedema;
junction obstruction;
celsr1 variants ... See more keywords
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2
Published in 2023 at "Frontiers in Cell and Developmental Biology"
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…
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Keywords:
celsr1;
planar cell;
pcp;
celsr1 celsr2 ... See more keywords