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
2017
De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome
Wang Q, Geng Q, Zhou Q, Luo F, Li P, Xie J. De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome. Molecular Cytogenetics 2017, 10: 46. PMID: 29270226, PMCID: PMC5738159, DOI: 10.1186/s13039-017-0347-z.Peer-Reviewed Original ResearchBeckwith-Wiedemann syndromeMethylation profilingGenome-wide copy number analysisGain of methylationAberrant methylation patternsIntegrated molecular approachSingle gene mutationsCopy number analysisSegmental uniparental disomyMethylation patternsGenetic mechanismsChromosome 11p15.5Genetic analysisTelomeric endMicroarray analysisMolecular approachesMolecular etiologyDuplicationBWS patientsNumber changesUniparental disomyGenetic defectsChromosome microarray analysisNumber analysisPaternal origin
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