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Role of ART in Imprinting Disorders [PDF]
Seminars in Reproductive Medicine, 2012 Assisted reproductive technologies (ART) offer revolutionary infertility treatments for millions of childless couples around the world. Currently, ART accounts for 1 to 3% of annual births in industrialized countries and continues to expand rapidly. Except for an increased incidence of premature births, these technologies are considered safe.
Ali Eroglu, Lawrence C Layman
exaly +5 more sources
Recent Advances in Imprinting Disorders. [PDF]
Clinical Genetics, 2016 Imprinting disorders (ImpDis) are a group of currently 12 congenital diseases with common underlying (epi)genetic etiologies and overlapping clinical features affecting growth, development and metabolism.
Begemann, M +11 more
core +7 more sources
Multilocus methylation defects in imprinting disorders
Biomolecular Concepts, 2015 Mammals inherit two complete sets of chromosomes, one from the father and one from the mother, and most autosomal genes are expressed from both maternal and paternal alleles. In imprinted genes, the expression of the allele is dependent upon its parental
Mackay Deborah J.G. +6 more
doaj +5 more sources
Imprinting disorders in humans: a review. [PDF]
Curr Opin Pediatr, 2020 Purpose of review Mammals have two complete sets of chromosomes, one from each parent with equal autosomal gene expression. Less than one percentage of human genes are imprinted or show expression from only one parent without changing gene structure, usually by DNA methylation, but reversible in gametogenesis.
Butler MG.
europepmc +4 more sources
Novel epigenetic molecular therapies for imprinting disorders. [PDF]
Mol Psychiatry, 2023 AbstractGenomic imprinting disorders are caused by the disruption of genomic imprinting processes leading to a deficit or increase of an active allele. Their unique molecular mechanisms underlying imprinted genes offer an opportunity to investigate epigenetic-based therapy for reactivation of an inactive allele or reduction of an active allele. Current
Wang SE, Jiang YH.
europepmc +3 more sources
Promising therapeutic aspects in human genetic imprinting disorders. [PDF]
Clin Epigenetics, 2022 AbstractGenomic imprinting is an epigenetic phenomenon of monoallelic gene expression pattern depending on parental origin. In humans, congenital imprinting disruptions resulting from genetic or epigenetic mechanisms can cause a group of diseases known as genetic imprinting disorders (IDs).
Chao Y +6 more
europepmc +3 more sources
Frontiers in Endocrinology, 2023 ObjectiveiPPSD2 (which includes PHP1A and PPHP/POH) is a rare inherited autosomal dominant endocrine disorder caused by inactivating GNAS pathogenic variants. A high percentage of de novo cases has been suggested.
Yerai Vado +4 more
doaj +1 more source
Frontiers in Cell and Developmental Biology, 2023 Imprinting disorders are congenital diseases caused by dysregulation of genomic imprinting, affecting growth, neurocognitive development, metabolism and cancer predisposition. Overlapping clinical features are often observed among this group of diseases.
Laura Pignata +13 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2023 Background Beckwith‐Wiedemann syndrome and Silver‐Russel syndrome are two imprinting disorders caused by opposite molecular alterations in 11p15.5. With the current diagnostic tests, their molecular diagnosis is challenging due to molecular heterogeneity
Elia Schlaich +2 more
doaj +1 more source
Role of DNA methylation in imprinting disorders: an updated review [PDF]
Journal of Assisted Reproduction and Genetics, 2017 Amr Rafat Elhamamsy
exaly +2 more sources