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Autor
Azizan, Elena A B 1 Beuschlein, Felix 1 Boulkroun, Sheerazed 1 Brown, Morris J 1 Buss, Folma 1 Cabrera, Claudia P 1 Ceral, Jiri 1 Cohen, Debbie L 1 David, Alessia 1 Drake, William M 1 Fernandes-Rosa, Fabio L 1 Foo, Roger S 1 Garg, Sumedha 1 Goodchild, Emily 1 Gurnell, Mark 1 Hagiyama, Man 1 Ito, Akihiko 1 King, Peter J 1 Kuan, Jyn Ling 1 Marker, Alison 1
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Pracoviště
1st Department of Internal Medicine C... 1 Assistance Publique Hôpitaux de Paris... 1 Barts and London Genome Centre School... 1 Cambridge Institute for Medical Resea... 1 Cardiovascular Disease Translational ... 1 Centre for Bioinformatics Department ... 1 Centre for Microvascular Research Wil... 1 Centre for Translational Bioinformati... 1 Clinical Pharmacology Unit University... 1 Department of Cell Biology University... 1 Department of Computational Drug Desi... 1 Department of Endocrinology William H... 1 Department of Histopathology Addenbro... 1 Department of Medicine Faculty of Med... 1 Department of Molecular and Internal ... 1 Department of Pathology Charles Unive... 1 Department of Pathology Faculty of Me... 1 Department of Pathology Faculty of Me... 1 Department of Pathology University of... 1 Department of Surgery Hospital of the... 1
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Autor
Azizan, Elena A B 1 Beuschlein, Felix 1 Boulkroun, Sheerazed 1 Brown, Morris J 1 Buss, Folma 1 Cabrera, Claudia P 1 Ceral, Jiri 1 Cohen, Debbie L 1 David, Alessia 1 Drake, William M 1 Fernandes-Rosa, Fabio L 1 Foo, Roger S 1 Garg, Sumedha 1 Goodchild, Emily 1 Gurnell, Mark 1 Hagiyama, Man 1 Ito, Akihiko 1 King, Peter J 1 Kuan, Jyn Ling 1 Marker, Alison 1
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Pracoviště
1st Department of Internal Medicine C... 1 Assistance Publique Hôpitaux de Paris... 1 Barts and London Genome Centre School... 1 Cambridge Institute for Medical Resea... 1 Cardiovascular Disease Translational ... 1 Centre for Bioinformatics Department ... 1 Centre for Microvascular Research Wil... 1 Centre for Translational Bioinformati... 1 Clinical Pharmacology Unit University... 1 Department of Cell Biology University... 1 Department of Computational Drug Desi... 1 Department of Endocrinology William H... 1 Department of Histopathology Addenbro... 1 Department of Medicine Faculty of Med... 1 Department of Molecular and Internal ... 1 Department of Pathology Charles Unive... 1 Department of Pathology Faculty of Me... 1 Department of Pathology Faculty of Me... 1 Department of Pathology University of... 1 Department of Surgery Hospital of the... 1
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Wu, Xilin
Autor Wu, Xilin Endocrine Hypertension, Department of Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK NIHR Barts Biomedical Research Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK St Bartholomew's Hospital, Barts Health NHS Trust, London, UK
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Azizan, Elena A B
Autor Azizan, Elena A B ORCID Endocrine Hypertension, Department of Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK. elena.azizan@ukm.edu.my Department of Medicine, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia. elena.azizan@ukm.edu.my
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Goodchild, Emily
Autor Goodchild, Emily Endocrine Hypertension, Department of Clinical Pharmacology and Precision Medicine, William Harvey Research Institute, Queen Mary University of London, London, UK NIHR Barts Biomedical Research Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK St Bartholomew's Hospital, Barts Health NHS Trust, London, UK
- Garg, Sumedha
- Hagiyama, Man
- Cabrera, Claudia P
- Fernandes-Rosa, Fabio L
- Boulkroun, Sheerazed
- Kuan, Jyn Ling
- Tiang, Zenia
Health & Medicine (ProQuest) od 2000-01-01 do Před 1 rokem
Public Health Database (ProQuest) od 2000-01-01 do Před 1 rokem
PubMed
37291193
DOI
10.1038/s41588-023-01403-0
Knihovny.cz E-zdroje
Aldosterone-producing adenomas (APAs) are the commonest curable cause of hypertension. Most have gain-of-function somatic mutations of ion channels or transporters. Herein we report the discovery, replication and phenotype of mutations in the neuronal cell adhesion gene CADM1. Independent whole exome sequencing of 40 and 81 APAs found intramembranous p.Val380Asp or p.Gly379Asp variants in two patients whose hypertension and periodic primary aldosteronism were cured by adrenalectomy. Replication identified two more APAs with each variant (total, n = 6). The most upregulated gene (10- to 25-fold) in human adrenocortical H295R cells transduced with the mutations (compared to wildtype) was CYP11B2 (aldosterone synthase), and biological rhythms were the most differentially expressed process. CADM1 knockdown or mutation inhibited gap junction (GJ)-permeable dye transfer. GJ blockade by Gap27 increased CYP11B2 similarly to CADM1 mutation. Human adrenal zona glomerulosa (ZG) expression of GJA1 (the main GJ protein) was patchy, and annular GJs (sequelae of GJ communication) were less prominent in CYP11B2-positive micronodules than adjacent ZG. Somatic mutations of CADM1 cause reversible hypertension and reveal a role for GJ communication in suppressing physiological aldosterone production.
- MeSH
- adenom kůry nadledvin * MeSH
- adrenokortikální nádory * MeSH
- aldosteron MeSH
- buněčná adhezní molekula 1 MeSH
- cytochrom P450 CYP11B2 MeSH
- hyperaldosteronismus * MeSH
- hypertenze * MeSH
- lidé MeSH
- mezerový spoj MeSH
- mutace MeSH
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- lidé MeSH
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- časopisecké články MeSH
- práce podpořená grantem MeSH
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