2021
Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib
Milioto A, Reyes M, Hanna P, Kiuchi Z, Turan S, Zeve D, Agarwal C, Grigelioniene G, Chen A, Mericq V, Frangos M, Ten S, Mantovani G, Salusky I, Tebben P, Jüppner H. Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib. The Journal Of Clinical Endocrinology & Metabolism 2021, 107: e1610-e1619. PMID: 34791361, PMCID: PMC8947795, DOI: 10.1210/clinem/dgab830.Peer-Reviewed Original ResearchConceptsIntracytoplasmic sperm injectionGNAS differentially methylated regionsIn vitro fertilizationLoss of methylationPHP1B patientsGNAS methylationPseudohypoparathyroidism type Ib (PHP1BMaternal GNAS methylation imprintsDifferentially Methylated RegionsStimulatory G protein alpha-subunitAutosomal dominant PHP1BParathyroid hormone resistancePseudohypoparathyroidism type IbProximal renal tubulesAbnormal GNAS methylationImpaired oocyte maturationOocyte-expressed genesGain of methylationSporadic PHP1BHormone resistanceSperm injectionPHP1BMale factorImprinting defectsGenetic defects
2019
SUN-594 Skeletal Dysplasia and Growth Failure in Congenital Hypothyroidism Due to a Novel Form of Generalized Thyroid Hormone Resistance
Mitts M, Gongidi P, Hamilton L, Steelman J. SUN-594 Skeletal Dysplasia and Growth Failure in Congenital Hypothyroidism Due to a Novel Form of Generalized Thyroid Hormone Resistance. Journal Of The Endocrine Society 2019, 3: sun-594. PMCID: PMC6553396, DOI: 10.1210/js.2019-sun-594.Peer-Reviewed Original ResearchThyroid function testsThyroid hormone receptor betaThyroid hormone receptor alphaPost-natal growth failureThyroid hormone resistanceGrowth failureTHRA mutationsFunction testsHormone resistanceCongenital hypothyroidismGeneralized thyroid hormone resistanceHeight standard deviation scoreHypothalamic-pituitary areaPatient's growth patternCongenital heart diseaseCranial MRI scansGenetic work-upStandard deviation scoreNon-consanguineous parentsDelayed developmental milestonesConstellation of findingsCoarse facial featuresThyroid hormone receptorTHRB mutationsCentral hypothyroidism
2002
Genetic Ablation of the Steroid Receptor Coactivator-Ubiquitin Ligase, E6-AP, Results in Tissue-Selective Steroid Hormone Resistance and Defects in Reproduction
Smith CL, DeVera DG, Lamb DJ, Nawaz Z, Jiang YH, Beaudet AL, O’Malley B. Genetic Ablation of the Steroid Receptor Coactivator-Ubiquitin Ligase, E6-AP, Results in Tissue-Selective Steroid Hormone Resistance and Defects in Reproduction. Molecular And Cellular Biology 2002, 22: 525-535. PMID: 11756548, PMCID: PMC139730, DOI: 10.1128/mcb.22.2.525-535.2002.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsDrug ResistanceFemaleFertilityGene ExpressionGrowthHistone AcetyltransferasesLigasesMaleMammary Glands, AnimalMiceMice, Inbred C57BLMice, KnockoutNuclear Receptor Coactivator 1Nuclear Receptor Coactivator 3PregnancyProstateReceptors, SteroidReproductionSteroidsTrans-ActivatorsTranscription FactorsUbiquitin-Protein LigasesConceptsSteroid hormone actionWild-type controlsHormone actionProstate gland growthFemale knockout miceSteroid hormone resistanceE6-APSex steroid actionSteroid receptor coactivatorVirgin mammary glandMammary gland developmentReceptor-dependent gene expressionFemale miceUterine growthHormone resistanceSteroid actionKnockout miceNull miceGland growthType 1Genetic ablationMammary glandReceptor coactivatorMiceGland development
1990
A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds.
Usala S, Tennyson G, Bale A, Lash R, Gesundheit N, Wondisford F, Accili D, Hauser P, Weintraub B. A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds. Journal Of Clinical Investigation 1990, 85: 93-100. PMID: 2153155, PMCID: PMC296391, DOI: 10.1172/jci114438.Peer-Reviewed Original ResearchConceptsGeneralized thyroid hormone resistanceC-erbA betaThyroid hormone resistanceHormone resistanceBase substitutionsT3-binding domainC-erbA beta geneThyroid hormone receptor genesBeta thyroid hormone receptorThyroid hormone receptorC-erbA beta thyroid hormone receptorHormone receptor geneProline codonsGenomic DNAThyroid hormone actionAltered baseBeta cDNASecondary structureBeta geneNuclear receptorsBase mutationMaximum logarithmPosition 448Receptor geneBeta receptors
1988
Tight Linkage between the Syndrome of Generalized Thyroid Hormone Resistance and the Human c-erbAβ Gene
Usala S, Bale A, Gesundheit N, Weinberger C, Lash R, Wondisford F, McBride O, Weintraub B. Tight Linkage between the Syndrome of Generalized Thyroid Hormone Resistance and the Human c-erbAβ Gene. Endocrinology 1988, 2: 1217-1220. PMID: 2905763, DOI: 10.1210/mend-2-12-1217.Peer-Reviewed Original ResearchConceptsThyroid hormone receptorGeneralized thyroid hormone resistanceBiological functionsC-erbA beta geneC-erbA genesHormone receptorsMutant phenotypeGene familyC-erbA betaC-erbA alphaRestriction enzyme analysisGene productsChromosome 3Multiple cDNAsThyroid hormone resistanceHuman syndromesTight linkageBeta locusGenesBeta geneNuclear receptorsLarge deletionsHormone resistanceEnzyme analysisCertain kindreds
1979
The Influence of Obesity and Diabetes in the Monkey on Insulin and Glucagon Binding to Liver Membranes*
LOCKWOOD D, HAMILTON C, LIVINGSTON J. The Influence of Obesity and Diabetes in the Monkey on Insulin and Glucagon Binding to Liver Membranes*. Endocrinology 1979, 104: 76-81. PMID: 221171, DOI: 10.1210/endo-104-1-76.Peer-Reviewed Original ResearchConceptsGroup of obese animalsObese animalsInsulin resistanceFasting plasma insulin concentrationInsulin bindingInfluence of obesityGlucagon bindingPlasma glucagon levelsHormone resistanceHypothalamic obesityImpairment of insulin bindingCarbohydrate intoleranceSpontaneous obesityHepatic insulin receptorsDiminished insulinPlasma insulin concentrationsHuman obesityNonketotic diabetesSignificant inverse relationshipObesityPrimate modelGlucagon levelsRhesus monkeysPlasma glucagonDiabetes
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