Results 141 to 150 of about 1,300,694 (272)

Genomic imprinting disorders in the structure of syndromic obesity in children

Ожирение и метаболизм
BACKGROUND. Genomic imprinting disorders represent a distinct class of hereditary diseases caused by disruption of the monoallelic expression of imprinted genes. Several of them are closely associated with obesity and metabolic disturbances.
O. V. Vasyukova, E. P. Atavina-Ermakova, E. G. Panchenko, D. A. Kopytina, O. A. Simonova, V. Y. Udalova, I. V. Kanivets, D. B. Akimova, M. Y. Skoblov, M. A. Andreeva, E. V. Nagaeva, N. G. Mokrysheva   +11 more
doaj   +1 more source

Mutations in NLRP5 are associated with reproductive wastage and multi-locus imprinting disorders in humans

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, LOUISE E, Buiting, Karin, Temple, Isabel, Kivuva, Emma, Eggermann, Thomas, Rezwan, Faisal I, Gizewska, Maria, Begemann, Matthias, Patalan, Michal, Hamilton-Shield, Julian P., Peregud-Pogorzelski, Jaroslaw, Baple, Emma, Turner, Claire L. S., Beygo, Jasmin, Mackay, Deborah, Mansour, Sahar, Soellner, Lukas, Smithson, Sarah F., Poole, Rebecca, Maher, Eamonn R, Horsthemke, Bernhard   +20 more
core   +1 more source

Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader–Willi syndromes

, 2010
Angelman syndrome (AS) and Prader–Willi syndrome (PWS) are neurodevelopmental disorders of genomic imprinting. AS results from loss of function of the ubiquitin protein ligase E3A ( UBE3A ) gene, whereas the genetic ...
Khong Y. Ng, Stormy J. Chamberlain, Pin-Fang Chen, Fany Bourgois-Rocha, Marc Lalande, Fouad Lemtiri-Chlieh, Eric S. Levine   +6 more
core   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

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, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

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

Genomic imprinting and human disease

, 2010
In many epigenetic phenomena, covalent modifications on DNA and chromatin mediate somatically heritable patterns of gene expression. Genomic imprinting is a classical example of epigenetic regulation in mammals.
Ryutaro Hirasawa, Robert Feil
core   +1 more source

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 more
wiley   +1 more source

Imprinting disorders in Estonia

, 2019
Congenital imprinting disorders (ImpDis) are a little-known group of rare hereditary diseases caused by changes in the expression of imprinted genes, mainly affecting growth, brain functions and the hormonal system. Although at least 100 imprinted genes have been found in the human genome, only 13 clinically recognizable ImpDis are currently known. The
openaire   +1 more source

Reframing the Gut–Brain Axis: The Gut Wall as a Neural Immune Interface in Multiple Sclerosis and Autoimmune Neurological Diseases

Annals of Neurology, EarlyView.
Gut wall physiology in multiple sclerosis (MS) and autoimmune neurologic diseases remains underexplored but may span gut barrier dysfunction, enteric glial targeting, mucosal immune dysregulation, and autoimmune targets within the enteric nervous system (ENS).
Federico Montini, Sean J. Pittock, Laura Cacciaguerra, Howard L. Weiner, Luke A. Schwerdtfeger   +4 more
wiley   +1 more source

Engineered 3D Fibronectin‐Based Environments Modulate the Pathogenic Profile of Arthritic Synovial Fibroblasts

Advanced NanoBiomed Research, EarlyView.
Fibroblast behavior is shaped by the surrounding microenvironment, yet conventional culture systems often fail to capture disease‐relevant phenotypes. Here, platform‐dependent responses of healthy and arthritic synovial fibroblasts are examined across 2D and 3D culture systems. Distinct inflammatory and proliferative signatures emerge, highlighting how
Aneesah Khan, Piaopiao Pan, Yanling Lan, Çağlar Çi̇l, Julia Isakova, Yilin Wang, Theodora Rogkoti, Thanutchaporn Sartyoungkul, James F. C. Windmill, Jonathan William, Manuel Salmeron‐Sanchez, Margaret H. Harnett, Oana Dobre, Miguel A. Pineda   +13 more
wiley   +1 more source