Role of epigenetics and alterations in RNA metabolism in leukodystrophies
WIREs RNA, Volume 15, Issue 3, May/June 2024.Leukodystrophies are rare brain disorders affecting white matter, with a clinical diversity still to be explained. Beyond genetics, epigenetic factors like histone modifications, DNA methylation, and non‐coding RNA dysregulation, as well as aberrant RNA maturation, are emerging as crucial contributors to these disorders.
Federica Rey +8 more
wiley +1 more source
Update on the aldehyde dehydrogenase gene (
Human Genomics, 2011 Members of the aldehyde dehydrogenase gene (ALDH) superfamily play an important role in the enzymic detoxification of endogenous and exogenous aldehydes and in the formation of molecules that are important in cellular processes, like retinoic acid ...
Jackson Brian +6 more
doaj +1 more source
Tubulointerstitial nephritis in primary Sjögren syndrome: clinical manifestations and response to treatment [PDF]
, 2016 BACKGROUND: Primary Sjögren syndrome (pSS) is a common autoimmune condition which primarily affects epithelial tissue, often including the kidney causing either tubulointerstitial nephritis (TIN) or more rarely, an immune complex related ...
Ciurtin, C +3 more
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Evaluación de la discapacidad en la infancia [PDF]
, 2012 En este trabajo se pretende analizar los recursos existentes para la evaluación de la discapacidad en la infancia en España, así como presentar el Inventario para la Evaluación Pediátrica de la Discapacidad (PEDI) y su versión española.
Guijo Blanco, Valeriana +1 more
core +1 more source
Morphological Changes of Parotid Gland in Experimental Hyperlipidemia [PDF]
, 2011 Objective. The aim of this study was to investigate the role of hyperlipidemia in the microstructure of parotid gland and its possible amelioration through statin treatment on Wistar rats. Methods. Forty Wistar rats (111.06 ± 3.36 g) were divided into 4
Daskala, Ioanna D. +1 more
core +3 more sources
Sjögren-Larsson Syndrome: A Rare Presentation With Developmental Delay. [PDF]
Cureus, 2023 J SK +5 more
europepmc +1 more source
Oleoylethanolamine and palmitoylethanolamine modulate intestinal permeability in vitro via TRPV1 and PPARα [PDF]
, 2016 Cannabinoids modulate intestinal permeability through cannabinoid receptor 1 (CB1). The endocannabinoid-like compounds oleoylethanolamine (OEA) and palmitoylethanolamine (PEA) play an important role in digestive regulation, and we hypothesized they would
Barrett, David A. +9 more
core +1 more source
Indian Journal of Paediatric DermatologySjogren-Larsson syndrome (SLS) is an autosomal recessive ichthyotic syndrome characterized by a triad of congenital ichthyosis, mental retardation, and diplegia or tetraplegia.
Aparna Thirumalaiswamy +3 more
doaj +1 more source
Интервал QT в кардиологической клинике [PDF]
, 2011 Вісник Харківського національного університету імені В. Н. Каразіна, серія «Медицина». – 2009. – № 879. – Випуск 18. – С. 73-96.Интервал QT, отражающий процессы деполяризации и реполяризации миокарда и, в конечном итоге, функцию изгнания желудочков ...
Кулик, В.Л. +1 more
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Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson Syndrome patients [PDF]
, 2021 Mutations in ALDH3A2 cause Sjögren-Larsson Syndrome (SLS), a neuro-ichthyotic condition that is caused by deficiency of fatty aldehyde dehydrogenase (FALDH). We screened for novel mutations causing SLS among Indian ethnicity, characterized the identified
Ashokkumar, B +10 more
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