ArticleProceedings of the National Academy of Sciences of the United States of America2017
Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency.
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Article in Proceedings of the National Academy of Sciences of the United States of America, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28citing papers in PubMed
3.2field-weighted citation impact, top 7% of its field
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Who cites it
28 citing papers in PubMed, 62 citations in OpenAlex.
- Apparent mineralocorticoid excess with a novelJCEM case reports · 2026Article
- Driving hypertension: non-classic apparent mineralocorticoid excess.Nature reviews. Endocrinology · 2026Article
- Population-based estimates of the global prevalence and carrier frequency of apparent mineralocorticoid excess caused by 11β-hydroxysteroid dehydrogenase type 2 deficiency.Orphanet journal of rare diseases · 2025Article
- Adrenal causes of endocrine hypertension in childhood or adolescence.Journal of endocrinological investigation · 2025Review
- Diagnosing apparent mineralocorticoid excess in a child with hypertension and nephrocalcinosis: from symptoms to genetics.CEN case reports · 2025Article
- Review
- Prevalence and Characteristics of Low-renin Hypertension in a Primary Care Population.Journal of the Endocrine Society · 2024Article
- Monogenic Hypertension Linked to the Renin-Angiotensin-Aldosterone System.Anatolian journal of cardiology · 2024Article
- Low Cortisone as a Novel Predictor of the Low-Renin Phenotype.Journal of the Endocrine Society · 2024Article
- Cushing's syndrome during pregnancy - two case reports.Frontiers in endocrinology · 2024Article
- Pediatric Endocrine Hypertension Related to the Adrenal Glands.Ewha medical journal · 2023Review
- Diagnosis and Treatment of Monogenic Hypertension in Children.Yonsei medical journal · 2023Review
- Mechanistic insights into the primary and secondary alterations of renal ion and water transport in the distal nephron.Journal of internal medicine · 2023Review
- Summary of Known Genetic and Epigenetic Modification Contributed to Hypertension.International journal of hypertension · 2023Review
- Case Report: A Novel Mutation Leading to 11-β Hydroxylase Deficiency in a Female Patient.Endocrine, metabolic & immune disorders drug targets · 2023Article
- Apparent mineralocorticoid excess: comprehensive overview of molecular genetics.Journal of translational medicine · 2022Review
- Monogenic forms of low-renin hypertension: clinical and molecular insights.Pediatric nephrology (Berlin, Germany) · 2022Article
- Review of the Pathophysiologic and Clinical Aspects of Hypokalemia in Children and Young Adults: an Update.Current treatment options in pediatrics · 2022Review
- Cortisol excess in chronic kidney disease - A review of changes and impact on mortality.Frontiers in endocrinology · 2022Review
- Knockout of theInternational journal of molecular sciences · 2021Article
Corrections and comments
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Authors and funding
27 authors at 8 institutions in 6 countries.
Mabel YauDepartment of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Shozeb HaiderDepartment of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London WC1N 1AX, United Kingdom.ORCID 0000-0003-2650-2925
Ahmed KhattabDepartment of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Chen LingDepartment of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London WC1N 1AX, United Kingdom.
Mehr MathewDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Samir ZaidiDepartment of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114.
Madison BlochDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Monica PatelDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Sinead EwertDepartment of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London WC1N 1AX, United Kingdom.
Wafa AbdullahDepartment of Pediatrics, Royal Hospital, Muscat 111, Oman.
Aysenur ToygarDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Vitalii MudryiDepartment of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London WC1N 1AX, United Kingdom.
Maryam Al BadiDepartment of Pediatrics, Royal Hospital, Muscat 111, Oman.
Mawj Al-zubaydiDepartment of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London WC1N 1AX, United Kingdom.
Robert C WilsonDepartment of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC 29425.
Hanan Said Al AzkawiDepartment of Pediatrics, Royal Hospital, Muscat 111, Oman.
Hatice Nur OzdemirDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Wahid Abu-AmerDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Jozef HertecantDepartment of Pediatrics, Tawam Hospital, Abu Dhabi 15258, United Arab Emirates.
Maryam Razzaghy-AzarMetabolic Disorders Research Center, Tehran University of Medical Sciences, Tehran 1417613151, Iran.
John W FunderDepartment of Medicine, Monash University, Clayton, VIC 3800, Australia.
Aisha Al SenaniDepartment of Pediatrics, Royal Hospital, Muscat 111, Oman.
Li SunDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Se-Min KimDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Tony YuenDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Mone ZaidiDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029; mone.zaidi@mssm.edu maria.new@mssm.edu.
Maria I NewDepartment of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029; mone.zaidi@mssm.edu maria.new@mssm.edu.
Icahn School of Medicine at Mount Sinai · USUniversity College London · GBRoyal Hospital · OMAustralian Regenerative Medicine Institute · AUHarvard University · USMedical University of South Carolina · USTawam Hospital · AETehran University of Medical Sciences · IR
Funding
Role of FSH in Osreoclast Formation and FunctionR01AG023176 · NIA · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI ZAIDI, MONE · 2003 to 2012
$4.4MAhr and OsteoporosisR01AR067066 · NIAMS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI AVADHANI, NARAYAN G, ZAIDI, MONE · 2014 to 2018
$3.3MThyrotropin Receptor, Thyrotropin and Mechanisms of Bone LossR01DK113627 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI DAVIES, TERRY FRANCIS, IQBAL, JAMEEL Z · 2017 to 2020
$2.8MUnderstanding the skeletal phenotype of Gaucher diseaseR01AR065932 · NIAMS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI MISTRY, PRAMOD K, ZAIDI, MONE · 2013 to 2017
$2.6MExploring The Posterior Pituitary-Bone ConnectionR01AG040132 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI ZAIDI, MONE · 2011 to 2015
$1.9MNIAMS NIH HHS R01 AR065932NIAMS NIH HHS R01 AR067066NIA NIH HHS R01 AG023176NIA NIH HHS R01 AG040132NIDDK NIH HHS R01 DK113627
Abstract
Mutations in 11β-hydroxysteroid dehydrogenase type 2 gene (
Indexed as
GenotypeMineralocorticoid Excess Syndrome, ApparentMutation, Missense11-beta-Hydroxysteroid Dehydrogenase Type 2AdolescentChildChild, PreschoolComputer SimulationEnzyme StabilityFemaleHumansInfantMaleProtein Multimerization11-beta-Hydroxysteroid Dehydrogenase Type 2HSD11B2 protein, humancongenital adrenal hyperplasiahypertensionin silico molecular modelingmolecular dynamics
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.