Results 11 to 20 of about 17,518 (240)

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., Eggermann Thomas, Buiting Karin, Garin Intza, Netchine Irène, Linglart Agnès, de Nanclares Guiomar Perez   +6 more
doaj   +5 more sources

ImprintCap, a powerful NGS-based technology to investigate the molecular background of imprinting disorders [PDF]

Clinical Epigenetics
Introduction Imprinting disorders (IDs) are a rare class of diseases caused by the disruption of imprinted genes, i.e., genes with a specific pattern of expression from only one allele.
Frédéric Brioude, Martin A. Haagmans, Marcel Mannens, Irene Netchine, Marielle Alders, Peter Henneman, Jet Bliek   +6 more
doaj   +2 more sources

The impact of assisted reproductive technologies on genomic imprinting and imprinting disorders. [PDF]

Curr Opin Obstet Gynecol, 2014
Genomic imprinting refers to preferential allele-specific gene expression. DNA methylation-based molecular mechanisms regulate establishment and maintenance of parental imprints during early embryo development and gametogenesis. Because of the coincident timing, a potential association between assisted reproductive technology (ART) procedures and ...
Uyar A, Seli E.
europepmc   +4 more sources

Uniparental Disomy and Imprinting Disorders [PDF]

OBM Genetics, 2018
Uniparental disomy (UPD), the inheritance of both homologues of a chromosome from only one parent, has been reported for nearly all human chromosomes. Depending on its mode of formation and time of occurrence, UPD can be present in all cells of an organism, or restricted to some cell lines as a mosaic UPD.
Thomas Eggermann, Deborah Jg Mackay, Tümer Zeynep   +2 more
exaly   +3 more sources

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci. [PDF]

Clin Epigenetics, 2015
Published by BioMed Central, [S.l.]
Eggermann T, Perez de Nanclares G, Maher ER, Temple IK, Tümer Z, Monk D, Mackay DJ, Grønskov K, Riccio A, Linglart A, Netchine I.   +10 more
europepmc   +12 more sources

Novel Perspectives on ATP8A2 Regulation: Evidence for Parental Imprinting and Chimeric Transcript Formation [PDF]

Epigenomes
Background: Parental imprinting plays a crucial role in epigenetic regulation and is increasingly recognized for its involvement in neurodevelopmental disorders.
Abdelhamid Bouramtane, Badreddine Elmakhzen, Amal Ouskri, Mohamed Ahakoud, Laila Bouguenouch, Karim Ouldim, Omar Askander   +6 more
doaj   +2 more sources

Epigenetic Mechanisms of ART-Related Imprinting Disorders: Lessons From iPSC and Mouse Models [PDF]

Genes, 2021
Melinda Zana, Anne Ferguson-Smith, András Dinnyes   +2 more
exaly   +2 more sources

Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2

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, Arrate Pereda, Africa Manero-Azua, Spanish Network for Imprinting Disorders, Guiomar Perez de Nanclares   +4 more
doaj   +1 more source

Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?

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, Francesco Cecere, Fabio Acquaviva, Emilia D’Angelo, Daniela Cioffi, Valeria Pellino, Orazio Palumbo, Pietro Palumbo, Massimo Carella, Angela Sparago, Daniele De Brasi, Flavia Cerrato, Andrea Riccio, Andrea Riccio   +13 more
doaj   +1 more source

First‐time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions

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, Wouter H. G. Hubens, Thomas Eggermann   +2 more
doaj   +1 more source