ArticleJournal of the Endocrine Society2019
Predicted Benign and Synonymous Variants in
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Article in Journal of the Endocrine Society, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17citing papers in PubMed
2.4field-weighted citation impact, top 10% of its field
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Who cites it
17 citing papers in PubMed, 36 citations in OpenAlex.
- Unmasking Isolated Glucocorticoid Deficiency: Clinical Insights From 2 Cases.JCEM case reports · 2026Article
- QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction.Nature communications · 2024Article
- AHeliyon · 2024Article
- Selectivity of osilodrostat as an inhibitor of human steroidogenic cytochromes P450.The Journal of steroid biochemistry and molecular biology · 2023Article
- Adrenal Dysfunction in Mitochondrial Diseases.International journal of molecular sciences · 2023Review
- Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome.Frontiers in endocrinology · 2023Review
- Two siblings with non-classic P450scc deficiency resulted from a novel mutation inBMJ case reports · 2022Article
- Can Digenic, Tri-Allelic Inheritance of Variants inFrontiers in endocrinology · 2022Article
- Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.Journal of the Endocrine Society · 2021Article
- Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity.The Journal of clinical endocrinology and metabolism · 2021Article
- The significance of CYP11A1 expression in skin physiology and pathology.Molecular and cellular endocrinology · 2021Article
- Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency withCase reports in endocrinology · 2021Article
- Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis.European journal of endocrinology · 2020Article
- Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant.Frontiers in pediatrics · 2020Review
- Primary adrenal insufficiency: New genetic causes and their long-term consequences.Clinical endocrinology · 2020Review
- Normal male external genitalia do not rule out CYP11A1 deficiency.BMJ case reports · 2019Article
- Article
Corrections and comments
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Authors and funding
37 authors at 16 institutions in 6 countries.
Avinaash MaharajCentre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.ORCID 0000-0001-8051-3866
Federica BuonocoreGenetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.ORCID 0000-0002-8274-7241
Eirini MeimaridouCentre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.ORCID 0000-0001-6417-2969
Gerard Ruiz-BabotCentre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.ORCID 0000-0002-8322-3159
Leonardo GuastiCentre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.ORCID 0000-0002-4616-6044
Hwei-Ming PengDivision of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan.ORCID 0000-0003-0784-6618
Cameron P CapperDivision of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan.ORCID 0000-0002-1146-5685
Neikelyn Burgos-TiradoDivision of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan.ORCID 0000-0001-9481-6403
Rathi PrasadCentre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.ORCID 0000-0001-6360-7246
Claire R HughesCentre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.ORCID 0000-0003-1434-1773
Ashwini MaudhooCentre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.ORCID 0000-0001-9461-8095
Elizabeth CrowneDepartment of Paediatric Endocrinology and Diabetes, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom.ORCID 0000-0001-5828-0410
Timothy D CheethamInstitute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom.ORCID 0000-0003-3120-2513
Caroline E BrainGenetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.ORCID 0000-0002-0630-6532
Jenifer P SuntharalinghamGenetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.ORCID 0000-0002-8897-7697
Niccolò StriglioniGenetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Bilgin YukselDepartment of Pediatric Endocrinology and Diabetes, Cukurova University, Adana, Turkey.ORCID 0000-0003-4378-3255
Fatih GurbuzDepartment of Pediatric Endocrinology and Diabetes, Cukurova University, Adana, Turkey.ORCID 0000-0003-2160-9838
Sangay GuptaDepartment of Pediatrics, Hull Royal Infirmary, Hull, United Kingdom.ORCID 0000-0001-5317-1004
Robert LindsayInstitute of Cardiovascular and Medical Sciences, British Heart Foundation Glasgow Cardiovascular Research Centre, University of Glasgow, Glasgow, United Kingdom.ORCID 0000-0002-9868-5217
Robert CouchDivision of Pediatric Endocrinology, Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.ORCID 0000-0002-4394-2757
Helen A SpoudeasGenetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Tulay GuranDepartment Pediatric Endocrinology and Diabetes, Marmara University, Istanbul, Turkey.ORCID 0000-0003-2658-6866
Stephanie JohnsonLady Cilento Children's Hospital, Brisbane, Queensland, Australia.ORCID 0000-0003-4540-2751
Dallas J FowlerLady Cilento Children's Hospital, Brisbane, Queensland, Australia.
Louise S ConwellLady Cilento Children's Hospital, Brisbane, Queensland, Australia.ORCID 0000-0001-5358-7624
Aideen M McInerney-LeoInstitute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology, Brisbane, Queensland, Australia.ORCID 0000-0002-0059-5732
Delphine DruiDepartment of Endocrinology, l'Institut du Thorax, Centre Hospitalier Universitaire de Nantes, Nantes, France.ORCID 0000-0002-4579-4129
Bertrand CariouINSERM UMR 1087, CNRS UMR 6291, l'Institut du Thorax, Université de Nantes, Nantes, France.ORCID 0000-0002-1580-8040
Juan P Lopez-SigueroPediatric Endocrinology Unit, Children's Hospital, Institute of Biomedical Research in Malaga, Málaga, Spain.ORCID 0000-0001-9282-9139
Mark HarrisLady Cilento Children's Hospital, Brisbane, Queensland, Australia.
Emma L DuncanInstitute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology, Brisbane, Queensland, Australia.ORCID 0000-0002-8143-4403
Peter C HindmarshDepartment of Paediatrics, University College London Hospitals, London, United Kingdom.ORCID 0000-0002-8889-3127
Richard J AuchusDivision of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan.ORCID 0000-0001-6815-6181
Malcolm D DonaldsonSection of Child Health, Glasgow University School of Medicine, Glasgow, United Kingdom.ORCID 0000-0001-9563-8442
John C AchermannGenetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.ORCID 0000-0001-8787-6272
Louise A MetherellCentre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.ORCID 0000-0002-0530-3524
Queen Mary University of London · GBGreat Ormond Street Hospital · GBThe University of Queensland · AUUniversity of Michigan · USCukurova University · TRQueensland University of Technology · AUBritish Heart Foundation · GBCentre Hospitalier Universitaire de Nantes · FRCentre National de la Recherche Scientifique · FRHull Royal Infirmary · GBMarmara University · TRNewcastle University · GBRoyal London Hospital · GBUniversity Hospitals Bristol NHS Foundation Trust · GBUniversity of Alberta · CAUniversity of Glasgow · GB
Funding
Activation of androgen biosynthesis and drug metabolism by cytochrome b5R01GM086596 · NIGMS · UT SOUTHWESTERN MEDICAL CENTER · PI RICHARD J. AUCHUS · 2009 to 2026
$4.8MMedical Research Council G0801265Medical Research Council G0901980Medical Research Council MR/K020455/1NIGMS NIH HHS R01 GM086596Wellcome Trust 209328/Z/17/Z
Abstract
Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that can present with nonspecific features and can be difficult to diagnose. We undertook next generation sequencing in a cohort of children and young adults with PAI of unknown etiology from around the world and identified a heterozygous missense variant (rs6161, c.940G>A, p.Glu314Lys) in
Indexed as
Addison diseaseCYP11A1cytochrome p450sccside chain cleavage enzymesilent variant
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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.