Case Report: Sjogren-Larsson Syndrome: Two Cases from One Family
Journal of Rehabilitation, 2006 Sjogren–Larsson Syndrome (SLS) is an autosomal recessive disorder characterized by generalized Ichthyosis, mental retardation, spastic diplegia or tetraplegia and epilepsy.
Parvaneh Karim-Zadeh
doaj
Farnesyl Phosphatase, a Corpora allata Enzyme Involved in Juvenile Hormone Biosynthesis in Aedes aegypti [PDF]
, 2013 Background: The juvenile hormones (JHs) are sesquiterpenoid compounds that play a central role in insect reproduction, development and behavior. The late steps of JH III biosynthesis in the mosquito Aedes aegypti involve the hydrolysis of farnesyl ...
Clifton, Mark E. +5 more
core +3 more sources
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
The NF1 somatic mutational landscape in sporadic human cancers [PDF]
, 2017 Background Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome.
Cooper, David Neil +4 more
core +2 more sources
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
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
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
core
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
Epidemiological studies in Malaysia and Sweden on associations between smoking, silica exposure and the risk of developing rheumatoid arthritis [PDF]
, 2012 Rheumatoid arthritis (RA) is a chronic, inflammatory disease, frequently associated with joint destruction. Knowledge regarding the aetiology of RA is mainly generated on Caucasian populations.
Yahya, Abqariyah
core +1 more source
Sjögren-Larsson Syndrome: A Rare Presentation With Developmental Delay. [PDF]
Cureus, 2023 J SK +5 more
europepmc +1 more source