Results 21 to 30 of about 18,499 (269)

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

Imprinting disorders after assisted reproductive technologies

Current Opinion in Obstetrics & Gynecology, 2006
To assess the evidence of an increased risk of imprinting diseases in children born after use of assisted reproductive ...
Andersen, Anders Nyboe, Pinborg, Anja, Lidegaard, Øjvind   +2 more
core   +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

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

Association between imprinting disorders and assisted reproductive technologies [PDF]

Epigenomics
Masayo Kagami, Kaori Hara-Isono
exaly   +2 more sources

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

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

Cynomolgus-rhesus hybrid macaques serve as a platform for imprinting studies

The Innovation, 2023
Genomic imprinting can lead to allele-specific expression (ASE), where one allele is preferentially expressed more than the other. Perturbations in genomic imprinting or ASE genes have been widely observed across various neurological disorders, notably ...
Zongyang Lu, Jie Li, Yong Lu, Ling Li, Wei Wang, Chenchen Zhang, Libing Xu, Yanhong Nie, Changshan Gao, Xinyan Bian, Zhen Liu, Guang-Zhong Wang, Qiang Sun   +12 more
doaj   +1 more source

Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders. [PDF]

Transl Psychiatry, 2020
Chromosome 15 (C15) imprinting disorders including Prader-Willi (PWS), Angelman (AS) and chromosome 15 duplication (Dup15q) syndromes are severe neurodevelopmental disorders caused by abnormal expression of genes from the 15q11-q13 region, associated ...
Baker EK, Butler MG, Hartin SN, Ling L, Bui M, Francis D, Rogers C, Field MJ, Slee J, Gamage D, Amor DJ, Godler DE.   +11 more
europepmc   +2 more sources

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans. [PDF]

Nat Commun, 2015
Human-imprinting disorders are congenital disorders of growth, development and metabolism, associated with disturbance of parent of origin-specific DNA methylation at imprinted loci across the genome.
Docherty LE, Rezwan FI, Poole RL, Turner CL, Kivuva E, Maher ER, Smithson SF, Hamilton-Shield JP, Patalan M, Gizewska M, Peregud-Pogorzelski J, Beygo J, Buiting K, Horsthemke B, Soellner L, Begemann M, Eggermann T, Baple E, Mansour S, Temple IK, Mackay DJ.   +20 more
europepmc   +2 more sources