Results 81 to 90 of about 538,877 (242)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas +9 more
wiley +1 more source
Zdorovʹe Rebenka, 2016 The analytical review demonstrated the impact of assisted reproductive technologies on genomic imprinting of a child. It is shown that assisted reproductive technologies have a risk of intrauterine growth retardation and imprinting-associated Beckwith ...
A.E. Abaturov
doaj +1 more source
Genomic Imprinting and Epigenetic Control of Development [PDF]
, 2012 Epigenetic mechanisms are extensively utilized during mammalian development. Specific patterns of gene expression are established during cell fate decisions, maintained as differentiation progresses, and often augmented as more specialized cell types are
Fedoriw, Andrew +2 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa +4 more
wiley +1 more source
Evolution of the CDKN1C-KCNQ1 imprinted domain
BMC Evolutionary Biology, 2008 Background Genomic imprinting occurs in both marsupial and eutherian mammals. The CDKN1C and IGF2 genes are both imprinted and syntenic in the mouse and human, but in marsupials only IGF2 is imprinted.
Shaw Geoff +4 more
doaj +1 more source
G3: Genes, Genomes, Genetics, 2020 In mammals, imprinted genes often exist in the form of clusters in specific chromosome regions. However, in pigs, genomic imprinting of a relatively few genes and clusters has been identified, and genes within or adjacent to putative imprinted clusters ...
Jinsoo Ahn +5 more
doaj +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley +1 more source
The evolution of genomic imprinting [PDF]
, 1990 We explore three possible pathways for the evolution of genomic imprinting. (1) Imprinting may be advantageous in itself when imprinted and unimprinted alleles of a locus confer different phenotypes. If a segment of DNA is imprinted in the gametes of one
Nanjundiah, Vidyanand +1 more
core +3 more sources
Long noncoding RNA functionality in imprinted domain regulation.
PLoS Genetics, 2020 Genomic imprinting is a parent-of-origin dependent phenomenon that restricts transcription to predominantly one parental allele. Since the discovery of the first long noncoding RNA (lncRNA), which notably was an imprinted lncRNA, a body of knowledge has ...
William A MacDonald, Mellissa R W Mann
doaj +1 more source
Genomic imprinting: concept and clinical consequences
, 1999 One of the major discoveries in modern genetics is the phenomenon of genomic, or parental, imprinting. The parent-of-origin effects seen after transmission of an imprinted gene from parents to their children do not follow the genetic rules postulated by ...
Mannens, M., Alders, M.
core +1 more source