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Somatic mutations o...
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause
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- Zhou, Junhua (författare)
- Queen Mary Univ London, William Harvey Res Inst, Dept Clin Pharmacol, Endocrine Hypertens, London, England.;Queen Mary Univ London, Barts & London Sch Med & Dent, NIHR Barts Cardiovasc Biomed Res Ctr, London, England.
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- Azizan, Elena A. B. (författare)
- Queen Mary Univ London, William Harvey Res Inst, Dept Clin Pharmacol, Endocrine Hypertens, London, England.;Natl Univ Malaysia, Dept Med, UKM Med Ctr, Kuala Lumpur, Malaysia.
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- Cabrera, Claudia P. (författare)
- Queen Mary Univ London, Barts & London Sch Med & Dent, NIHR Barts Cardiovasc Biomed Res Ctr, London, England.;Queen Mary Univ London, William Harvey Res Inst, Ctr Translat Bioinformat, London, England.
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- Fernandes-Rosa, Fabio L. (författare)
- Univ Paris, PARCC, INSERM, Paris, France.
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- Boulkroun, Sheerazed (författare)
- Univ Paris, PARCC, INSERM, Paris, France.
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- Argentesi, Giulia (författare)
- Queen Mary Univ London, William Harvey Res Inst, Dept Clin Pharmacol, Endocrine Hypertens, London, England.;Queen Mary Univ London, Barts & London Sch Med & Dent, NIHR Barts Cardiovasc Biomed Res Ctr, London, England.
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- Cottrell, Emily (författare)
- Queen Mary Univ London, William Harvey Res Inst, Ctr Endocrinol, London, England.
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- Amar, Laurence (författare)
- Univ Paris, PARCC, INSERM, Paris, France.;Hop Europeen Georges Pompidou, AP HP, Unite Hypertens Arterielle, Paris, France.
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- Wu, Xilin (författare)
- Queen Mary Univ London, William Harvey Res Inst, Dept Clin Pharmacol, Endocrine Hypertens, London, England.;Queen Mary Univ London, Barts & London Sch Med & Dent, NIHR Barts Cardiovasc Biomed Res Ctr, London, England.
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- O'Toole, Sam (författare)
- Queen Mary Univ London, William Harvey Res Inst, Dept Clin Pharmacol, Endocrine Hypertens, London, England.;Queen Mary Univ London, Barts & London Sch Med & Dent, NIHR Barts Cardiovasc Biomed Res Ctr, London, England.
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- Goodchild, Emily (författare)
- Queen Mary Univ London, William Harvey Res Inst, Dept Clin Pharmacol, Endocrine Hypertens, London, England.;Queen Mary Univ London, Barts & London Sch Med & Dent, NIHR Barts Cardiovasc Biomed Res Ctr, London, England.
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- Marker, Alison (författare)
- Addenbrookes Hosp, Dept Histopathol, Cambridge, England.
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- Senanayake, Russell (författare)
- Cambridge Biomed Campus, Metab Res Labs, Inst Metab Sci, Cambridge, England.
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- Garg, Sumedha (författare)
- Queen Mary Univ London, William Harvey Res Inst, Dept Clin Pharmacol, Endocrine Hypertens, London, England.;Queen Mary Univ London, Barts & London Sch Med & Dent, NIHR Barts Cardiovasc Biomed Res Ctr, London, England.;Cambridge Biomed Campus, Metab Res Labs, Inst Metab Sci, Cambridge, England.
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- Åkerström, Tobias (författare)
- Uppsala universitet,Endokrinkirurgi
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- Backman, Samuel (författare)
- Uppsala universitet,Endokrinkirurgi
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- Jordan, Suzanne (författare)
- Royal London Hosp, Dept Cellular Pathol, London, England.
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- Polubothu, Satyamaanasa (författare)
- UCL, Genet & Genom Med, Great Ormond St Inst Child Hlth, London, England.
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- Berney, Daniel M. (författare)
- Queen Mary Univ London, Ctr Canc Biomarkers & Biotherapeut, Barts Canc Inst, London, England.
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- Gluck, Anna (författare)
- Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK
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- Lines, Kate E. (författare)
- Univ Oxford, Radcliffe Dept Med, Endocrine Unit, Oxford, England.
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- Thakker, Rajesh V. (författare)
- Univ Oxford, Radcliffe Dept Med, Endocrine Unit, Oxford, England.
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- Tuthill, Antoinette (författare)
- Cork Univ Hosp, Dept Endocrinol & Diabet, Cork, Ireland.
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- Joyce, Caroline (författare)
- Cork Univ Hosp, Clin Biochem, Cork, Ireland.
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- Kaski, Juan Pablo (författare)
- UCL, Inst Cardiovasc Sci, London, England.;Great Ormond St Hosp Sick Children, Ctr Inherited Cardiovasc Dis, London, England.
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- Karet Frankl, Fiona E. (författare)
- Univ Cambridge, Cambridge Inst Med Res, Cambridge, England.
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- Metherell, Lou A. (författare)
- Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK
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- Teo, Ada E. D. (författare)
- Natl Univ Singapore, Dept Med, Yong Loo Lin Sch Med, Singapore, Singapore.
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- Gurnell, Mark (författare)
- Metabolic Research Laboratories, Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge, UK
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- Parvanta, Laila (författare)
- St Bartholomews Hosp, Department Surg, London, England.
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- Drake, William M. (författare)
- St Bartholomews Hosp, Dept Endocrinol St, London, England.
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- Wozniak, Eva (författare)
- Queen Mary Univ London, Blizard Inst, Sch Med & Dent, Barts & London Genome Ctr, London, England.
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- Klinzing, David (författare)
- Natl Univ Singapore, Yong Loo Lin Sch Med, Cardiovasc Dis Translat Res Programme, Singapore, Singapore.
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- Kuan, Jyn Ling (författare)
- Natl Univ Singapore, Yong Loo Lin Sch Med, Cardiovasc Dis Translat Res Programme, Singapore, Singapore.
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- Tiang, Zenia (författare)
- Natl Univ Singapore, Yong Loo Lin Sch Med, Cardiovasc Dis Translat Res Programme, Singapore, Singapore.;Genome Inst Singapore, Agcy Sci Res & Technol, Singapore, Singapore.
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- Gomez Sanchez, Celso E. (författare)
- Univ Mississippi, Med Ctr, Dept Pharmacol & Toxicol, Jackson, MS USA.;GV Sonny Montgomery VA Med Ctr, Jackson, MS USA.
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- Hellman, Per (författare)
- Uppsala universitet,Endokrinkirurgi
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- Foo, Roger S. Y. (författare)
- Natl Univ Singapore, Yong Loo Lin Sch Med, Cardiovasc Dis Translat Res Programme, Singapore, Singapore.
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- Mein, Charles A. (författare)
- Queen Mary Univ London, Blizard Inst, Sch Med & Dent, Barts & London Genome Ctr, London, England.
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- Kinsler, Veronica A. (författare)
- Cellular Pathology Department, Royal London Hospital, London, UK
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- Björklund, Peyman (författare)
- Uppsala universitet,Endokrinkirurgi
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- Storr, Helen L. (författare)
- Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK
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- Zennaro, Maria-Christina (författare)
- Univ Paris, PARCC, INSERM, Paris, France.;Hop Europeen Georges Pompidou, Assistance Publ Hop Paris, Paris, France.
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- Brown, Morris J. (författare)
- Queen Mary Univ London, William Harvey Res Inst, Dept Clin Pharmacol, Endocrine Hypertens, London, England.;Queen Mary Univ London, Barts & London Sch Med & Dent, NIHR Barts Cardiovasc Biomed Res Ctr, London, England.
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Queen Mary Univ London, William Harvey Res Inst, Dept Clin Pharmacol, Endocrine Hypertens, London, England;Queen Mary Univ London, Barts & London Sch Med & Dent, NIHR Barts Cardiovasc Biomed Res Ctr, London, England. Queen Mary Univ London, William Harvey Res Inst, Dept Clin Pharmacol, Endocrine Hypertens, London, England.;Natl Univ Malaysia, Dept Med, UKM Med Ctr, Kuala Lumpur, Malaysia. (creator_code:org_t)
- 2021-08-12
- 2021
- Engelska.
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Ingår i: Nature Genetics. - : Springer Nature. - 1061-4036 .- 1546-1718. ; 53:9, s. 1360-1372
- Relaterad länk:
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https://discovery.uc...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Sequence analysis identifies gain-of-function somatic mutations in GNA11 or GNAQ in CTNNB1-mutant aldosterone-producing adenomas. Most patients with these mutations presented during puberty, pregnancy or menopause, with elevated LHCGR expression. Most aldosterone-producing adenomas (APAs) have gain-of-function somatic mutations of ion channels or transporters. However, their frequency in aldosterone-producing cell clusters of normal adrenal gland suggests a requirement for codriver mutations in APAs. Here we identified gain-of-function mutations in both CTNNB1 and GNA11 by whole-exome sequencing of 3/41 APAs. Further sequencing of known CTNNB1-mutant APAs led to a total of 16 of 27 (59%) with a somatic p.Gln209His, p.Gln209Pro or p.Gln209Leu mutation of GNA11 or GNAQ. Solitary GNA11 mutations were found in hyperplastic zona glomerulosa adjacent to double-mutant APAs. Nine of ten patients in our UK/Irish cohort presented in puberty, pregnancy or menopause. Among multiple transcripts upregulated more than tenfold in double-mutant APAs was LHCGR, the receptor for luteinizing or pregnancy hormone (human chorionic gonadotropin). Transfections of adrenocortical cells demonstrated additive effects of GNA11 and CTNNB1 mutations on aldosterone secretion and expression of genes upregulated in double-mutant APAs. In adrenal cortex, GNA11/Q mutations appear clinically silent without a codriver mutation of CTNNB1.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
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Zhou, Junhua
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Azizan, Elena A. ...
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Cabrera, Claudia ...
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Fernandes-Rosa, ...
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Boulkroun, Sheer ...
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Argentesi, Giuli ...
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visa fler...
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Cottrell, Emily
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Amar, Laurence
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Wu, Xilin
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O'Toole, Sam
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Goodchild, Emily
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Marker, Alison
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Senanayake, Russ ...
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Garg, Sumedha
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Åkerström, Tobia ...
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Backman, Samuel
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Jordan, Suzanne
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Polubothu, Satya ...
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Berney, Daniel M ...
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Gluck, Anna
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Lines, Kate E.
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Thakker, Rajesh ...
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Tuthill, Antoine ...
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Joyce, Caroline
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Kaski, Juan Pabl ...
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Karet Frankl, Fi ...
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Metherell, Lou A ...
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Teo, Ada E. D.
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Gurnell, Mark
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Parvanta, Laila
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Drake, William M ...
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Wozniak, Eva
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Klinzing, David
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Kuan, Jyn Ling
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Tiang, Zenia
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Gomez Sanchez, C ...
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Hellman, Per
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Foo, Roger S. Y.
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Mein, Charles A.
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Kinsler, Veronic ...
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Björklund, Peyma ...
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Storr, Helen L.
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Zennaro, Maria-C ...
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Brown, Morris J.
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