ArticleFamilial cancer2013
Whole exome sequencing identifies mutation of EDNRA involved in ACTH-independent macronodular adrenal hyperplasia.
Article in Familial cancer, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 32 citations in OpenAlex.
- The molecular genetics of adrenal cushing.Hormones (Athens, Greece) · 2024Review
- Molecular and Genetics Perspectives on Primary Adrenocortical Hyperfunction Disorders.International journal of molecular sciences · 2024Review
- Morphological Harbingers of ARMC5-Pathogenic Variant-Related Bilateral Macronodular Adrenocortical Disease.Endocrine pathology · 2023Article
- Genetic Alterations in Benign Adrenal Tumors.Biomedicines · 2022Review
- Overview of the 2022 WHO Classification of Adrenal Cortical Tumors.Endocrine pathology · 2022Review
- MicroRNA expression signature and target prediction in familial and sporadic primary macronodular adrenal hyperplasia (PMAH).BMC endocrine disorders · 2022Article
- Disorders of the adrenal cortex: Genetic and molecular aspects.Frontiers in endocrinology · 2022Review
- Molecular Genetic and Genomic Alterations in Cushing's Syndrome and Primary Aldosteronism.Frontiers in endocrinology · 2021Review
- Molecular Basis of Primary Aldosteronism and Adrenal Cushing Syndrome.Journal of the Endocrine Society · 2020Review
- Adrenocortical tumorigenesis: Lessons from genetics.Best practice & research. Clinical endocrinology & metabolism · 2020Review
- Article
- Weighted gene co‑expression network analysis for identifying hub genes in association with prognosis in Wilms tumor.Molecular medicine reports · 2019Article
- ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia.PloS one · 2018Article
- Applying Systems Biology Methodology To Identify Genetic Factors Possibly Associated with Recovery after Traumatic Brain Injury.Journal of neurotrauma · 2017Article
- Cell-to-cell communication in bilateral macronodular adrenal hyperplasia causing hypercortisolism.Frontiers in endocrinology · 2015Review
- Molecular and clinical evidence for an ARMC5 tumor syndrome: concurrent inactivating germline and somatic mutations are associated with both primary macronodular adrenal hyperplasia and meningioma.The Journal of clinical endocrinology and metabolism · 2015Article
- Article
- Progress and challenges in the computational prediction of gene function using networks: 2012-2013 update.F1000Research · 2013Article
- Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
ACTH independent macronodular adrenal hyperplasia (AIMAH) is a rare disorder characterized by bilateral macronodular hyperplasia of the adrenal glands and increased cortisol production with subclinical or overt Cushing's syndrome. Although the family clustering of AIMAH is infrequent, we have tried our best to find such a familial affected pedigree with complete clinical information and successfully collect adrenalectomy tissue samples from two members of this family. Using whole exome sequencing and several variant prioritization strategies based on disease network analysis, we identified Endothelin receptor type A (EDNRA) Ser420Thr mutation as a causative mutation of AIMAH. EDNRA is a member of G protein coupled receptor family and is involved in cardiovascular or polycystic kidney disease. Our findings indicate that the mutation of EDNRA at S420T site should be regard as a potential AIMAH causative variation in familial and sporadic affected patients.
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