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Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion

medRxiv(2023)10.1101/2023.01.20.23284646Source: DataRank Database

Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion is a research paper published in medRxiv (2023). On theSindex it has a DataRank of 0.

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datarank_citation_only_1hop_v6· scope data_onlyMethodology

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Enrichment:Funding (5 grants)OA: greenTopics (65)IDs (PubMed, OpenAlex)SDGs (1)

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Authors (30)

Adrian Daly ORCID,Laura C. Hernández‐Ramírez ORCID,Elisa Araldi ORCID,Christina Tatsi ORCID,Ryan Dale ORCID

Live enrichment

PubMed:36711613 OpenAlex:https://openalex.org/W4317566936

National Institutes of Health

Grant: 2R01DK032949-24A1

BIOCHEMISTRY AND PHYSIOLOGY OF PEPTIDE AMIDATION

National Institutes of Health

Grant: 1ZIAHD008920-04

Molecular Genetics of Endocrine Tumors and Related Disorders

Medical Research Council

Grant: MC_PC_17228

NIDDK NIH HHS

Grant: R01 DK032949

Intramural NIH HHS

Grant: ZIA HD008920

greenLicense: public-domain

repositoryhttps://scholarworks.indianapolis.iu.edu/bitstreams/589f51eb-3c6f-4b0f-a0ec-480f1bdb4ea6/download

publisherhttps://syndication.highwire.org/content/doi/10.1101/2023.01.20.23284646

repositoryhttps://hdl.handle.net/1805/36315

repositoryhttp://dx.doi.org/10.1101/2023.01.20.23284646

Fields of Study

Pituitary Gland Disorders and TreatmentsGrowth Hormone and Insulin-like Growth FactorsNeuroendocrine Tumor Research Advances0301 basic medicine0303 health sciences03 medical and health sciences

Keywords

GermlineBiologyMissense mutationGenePituitary tumorsGeneticsMinigeneLoss functionAlternative splicingExome sequencingLoss of heterozygosityEndocrinologyPhenotypeExonAlleleCancer ResearchMolecular biologyamidationPituitary DiseasesEndocrinology, Diabetes and MetabolismMixed Function OxygenasesHuman health sciencesChildInternal medicine[SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism[SDV.MHEP] Life Sciences [q-bio]/Human health and pathologyMessenger RNACushing diseaseLife SciencesPituitary diseaseCushing disease; acromegaly; amidation; gigantism; peptidylglycine α-amidating monooxygenase; pituitary tumorsPituitary GlandMedicinepeptidylglycine α-amidating monooxygenaseEndocrinologie, métabolisme & nutritionDNA Copy Number Variations610Sciences de la santé humaineGigantismDiseases of the endocrine glands. Clinical endocrinologyEndocrinology, metabolism & nutritionSDG 3 - Good Health and Well-beingPheochromocytoma and ParagangliomaBiochemistry, Genetics and Molecular BiologyPituitary AdenomasHealth SciencesHumansPituitary NeoplasmsDiagnosis and Management of Pituitary Disorderspeptidylglycine α-amidating monooxygenase, amidation, gigantism, acromegaly, Cushing disease, pituitary tumorsRC648-665peptidylglycine a-amidating monooxygenaseHormonepeptidylglycine α-amidating monooxygenase; amidation; gigantism; acromegaly; Cushing disease; pituitary tumorsFOS: Biological sciencesAcromegalypeptidylglycine a-amidating monooxygenase amidation gigantism acromegaly Cushing disease pituitary tumorsSurgeryMetabolic Reprogramming in Cancer Biology

Sustainable Development Goals

SDG 0: Good health and well-being