Results 61 to 70 of about 2,192 (190)
High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy [PDF]
, 2011 Background Many copy number variants (CNVs) are documented to be associated with neuropsychiatric disorders, including intellectual disability, autism, epilepsy, schizophrenia, and bipolar disorder.
Larissa R Stewart +4 more
core +1 more source
Advanced Science, Volume 13, Issue 17, 23 March 2026.This study emphasizes the role of the Mapk13‐Tcf1‐Slc7a5‐methionine metabolism axis in stem‐like CD4+ T cells. Moreover, it uncovers the mechanism through which limiting one‐carbon metabolism in CD4+ stem‐like T cells suppresses the tide of chronic allograft vasculopathy, offering potential targets to promote long‐term graft survival.
Wang Yi +8 more
wiley +1 more source
Inherited epithelial transporter disorders—an overview [PDF]
, 2018 Summary: In the late 1990s, the identification of transporters and transporter-associated genes progressed substantially due to the development of new cloning approaches such as expression cloning and, subsequently, to the implementation of the human ...
Bergeron, M. +3 more
core
Impact of the Interaction between 3′-UTR SNPs and microRNA on the Expression of Human Xenobiotic Metabolism Enzyme and Transporter Genes [PDF]
, 2012 Genetic variation in the expression of human XMETs leads to inter-individual variability in metabolism of therapeutic agents as well as differed susceptibility to various diseases.
David A Flockhart +7 more
core +2 more sources
CDG due to Defective Membrane Transporters: Update
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley +1 more source
Clinical profile of a Polish cohort of children and young adults with cystinuria
Renal Failure, 2021 Background Cystinuria is an inherited disorder that results in increased excretion of cystine in the urine. It accounts for about 1–2% of pediatric kidney stones.
Marcin Tkaczyk +16 more
doaj +1 more source
iMeta, Volume 4, Issue 5, October 2025.Interactions between functional oligosaccharides and small intestinal cells are increasingly recognized as critical for maintaining intestinal health. Using xylooligosaccharides (XOS) as a model, we demonstrate that XOS promote growth in piglets primarily by enhancing nutrient transport and increasing villus height in the jejunum.
Fuli Deng +8 more
wiley +1 more source
ACVIM Small Animal Consensus Recommendations on the Treatment and Prevention of Uroliths in Dogs and Cats. [PDF]
, 2016 In an age of advancing endoscopic and lithotripsy technologies, the management of urolithiasis poses a unique opportunity to advance compassionate veterinary care, not only for patients with urolithiasis but for those with other urinary diseases as well.
Adams, LG +5 more
core +1 more source
Acta Physiologica, Volume 241, Issue 8, August 2025.ABSTRACT Aim Podocytes, highly specialized epithelial cells located in the glomerulus of the kidney, are essential to the filtration barrier that ensures separation of blood and urine. These cells exhibit a unique architecture, characterized by an intricate network of foot processes interconnected by slit diaphragms, which serve as a critical selective
Desiree Loreth +2 more
wiley +1 more source
Placental genome and maternal-placental genetic interactions: A genome-wide and candidate gene association study of placental abruption [PDF]
, 2014 While available evidence supports the role of genetics in the pathogenesis of placental abruption (PA), PA-related placental genome variations and maternal-placental genetic interactions have not been investigated.
Ananth, Cande V. +6 more
core +1 more source