2023
Chapter 8 Familial hyperaldosteronism
Pappachan J, Fernandez C, Geller D. Chapter 8 Familial hyperaldosteronism. 2023, 105-112. DOI: 10.1016/b978-0-323-96120-2.00016-9.ChaptersPrimary aldosteronismFamilial hyperaldosteronismMonogenic hypertensionOral glucocorticoid therapyGlucocorticoid-remediable aldosteronismRare autosomal dominant disorderGroup of diseasesSporadic primary aldosteronismAutosomal dominant disorderFH-IIIFH-IVGlucocorticoid therapyPathobiological aspectsDiagnostic evaluationRare disorderHyperaldosteronismFamilial formsBiochemical testingDominant disorderFH-IICommon formAldosteronismHypertensionDisordersVariable penetrance
2015
Structure and vascular function of MEKK3–cerebral cavernous malformations 2 complex
Fisher OS, Deng H, Liu D, Zhang Y, Wei R, Deng Y, Zhang F, Louvi A, Turk BE, Boggon TJ, Su B. Structure and vascular function of MEKK3–cerebral cavernous malformations 2 complex. Nature Communications 2015, 6: 7937. PMID: 26235885, PMCID: PMC4526114, DOI: 10.1038/ncomms8937.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAnimals, NewbornBlood VesselsCapillary PermeabilityCerebrovascular CirculationCrystallizationHemangioma, Cavernous, Central Nervous SystemIntracranial HemorrhagesMAP Kinase Kinase Kinase 3MiceMice, KnockoutMicrofilament ProteinsNeovascularization, Physiologicrho GTP-Binding Proteinsrho-Associated KinasesSignal Transduction
2009
Distinct Early Signaling Events Resulting From the Expression of the PRKAG2 R302Q Mutant of AMPK Contribute to Increased Myocardial Glycogen
Folmes KD, Chan AY, Koonen DP, Pulinilkunnil TC, Baczkó I, Hunter BE, Thorn S, Allard MF, Roberts R, Gollob MH, Light PE, Dyck JR. Distinct Early Signaling Events Resulting From the Expression of the PRKAG2 R302Q Mutant of AMPK Contribute to Increased Myocardial Glycogen. Circulation Genomic And Precision Medicine 2009, 2: 457-466. PMID: 20031621, DOI: 10.1161/circgenetics.108.834564.Peer-Reviewed Original ResearchConceptsTransgenic miceR302Q mutationGlycogen contentAcute expressionCardiomyocyte-restricted expressionAMPK activationTransgenic adult miceNeonatal rat cardiomyocytesChronic modelWolff-ParkinsonGlycogen synthase activityWhite syndromeCardiac hypertrophyAdult miceGlycogen storage cardiomyopathyMyocardial glycogenDirect effectCompensatory alterationsRat cardiomyocytesFamilial formsMiceEarly signaling eventCardiomyopathyAMPK activityHeartM1953 Frequency and Characteristics of Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and Other Non-Syndromic Colorectal Cancer (CRC) Familial Forms in Spain. Preliminary Data of a Prospective, Multicenter, Population-Based Study (Epicolon-II)
Bessa X, Gonzalez D, Roman E, Bujanda L, Enriquez-Navascués J, Reñe J, Gonzalo V, Jover R, Llor X, Peña E, Latorre M, de Castro Parga M, Carracedo A, Castells A, Andreu M. M1953 Frequency and Characteristics of Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and Other Non-Syndromic Colorectal Cancer (CRC) Familial Forms in Spain. Preliminary Data of a Prospective, Multicenter, Population-Based Study (Epicolon-II). Gastroenterology 2009, 136: a-454. DOI: 10.1016/s0016-5085(09)62088-6.Peer-Reviewed Original Research
2008
A Novel Form of Human Mendelian Hypertension Featuring Nonglucocorticoid-Remediable Aldosteronism
Geller DS, Zhang J, Wisgerhof MV, Shackleton C, Kashgarian M, Lifton RP. A Novel Form of Human Mendelian Hypertension Featuring Nonglucocorticoid-Remediable Aldosteronism. The Journal Of Clinical Endocrinology & Metabolism 2008, 93: 3117-3123. PMID: 18505761, PMCID: PMC2515083, DOI: 10.1210/jc.2008-0594.Peer-Reviewed Original ResearchConceptsGlucocorticoid-remediable aldosteronismAdrenal fasciculataAdministration of dexamethasoneAdrenal steroid productionAdrenal steroid biosynthesisNew familial formAge 7 yrSecondary hypertensionBilateral adrenalectomyMost patientsPrimary aldosteronismAdrenal weightClinical syndromeAdrenal glandCortisol secretionLeading causeAldosteronismHypertensionMedical treatmentAldosterone synthaseSteroid productionAutosomal dominant formCellular hypertrophyCortical compartmentFamilial forms
1992
PRAD1 (cyclin D1): a parathyroid neoplasia gene on 11q13.
Arnold A, Motokura T, Bloom T, Rosenberg C, Bale A, Kronenberg H, Ruderman J, Brown M, Kim H. PRAD1 (cyclin D1): a parathyroid neoplasia gene on 11q13. Henry Ford Hospital Medical Journal 1992, 40: 177-80. PMID: 1483873.Peer-Reviewed Original ResearchConceptsPossible primaryMultiple endocrine neoplasia type 1Sporadic parathyroid adenomasParathyroid diseaseParathyroid adenomaMEN-1Pathogenetic featuresType 1Familial formsCandidate oncogeneBcl-2PTH locusC-MycField gel electrophoresisPRAD1Cell cycleOncogeneImmunoglobulin genesHyperparathyroidismCyclin proteinsAdenomasNeoplasiaPathogenesisTumorsDisease
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