Results 91 to 100 of about 16,795 (294)

Therapeutic potential of tetrahydroxylated bile acids in reducing liver injury: Insights from the Zfyve19−/− mouse model

open access: yesPediatric Investigation, EarlyView.
THBA (3α,6α,7α,12α‐Tetrahydroxy‐10β,13β‐pentanoic acid) administration can alleviate cholestatic liver injury, hepatocellular necrosis, inflammatory response, bile duct hyperplasia, and portal fibrosis in the Zfyve19−/− mouse model. This evaluation encompasses various parameters, including serum biochemistry, liver histology, immunostaining, and ...
Li Wang   +8 more
wiley   +1 more source

dUTPase based switch controls transfer of virulence genes in order to preserve integrity of the transferred mobile genetic elements [PDF]

open access: yes, 2013
dUTPases ubiquitously regulate cellular dUTP levels to preserve genome integrity. Recently, several other cellular processes were reported to be controlled by dUTPases including the horizontal transfer of Staphylococcus aureus pathogenicity islands ...
Bendes, A.   +12 more
core   +1 more source

Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome

open access: yesFrontiers in Genetics, 2022
Cilia are quasi-ubiquitous microtubule-based sensory organelles, which play vital roles in signal transduction during development and cell homeostasis.
Tamara D. S. Rusterholz   +5 more
doaj   +1 more source

Genetic risk factor identification for common epilepsies guided by integrative omics data analysis

open access: yesEpilepsia, EarlyView.
Abstract Objective Genetic generalized epilepsies (GGEs) comprise the most common genetically determined epilepsy syndromes, following a complex mode of inheritance. Although many important common and rare genetic factors causing or contributing to these epilepsies have been identified in the past decades, many features of the genetic architecture are ...
Ashwini Mushunuri   +9 more
wiley   +1 more source

Subcellular localization of MC4R with ADCY3 at neuronal primary cilia underlies a common pathway for genetic predisposition to obesity. [PDF]

open access: yes, 2018
Most monogenic cases of obesity in humans have been linked to mutations in genes encoding members of the leptin-melanocortin pathway. Specifically, mutations in MC4R, the melanocortin-4 receptor gene, account for 3-5% of all severe obesity cases in ...
A Hinney   +38 more
core   +1 more source

Growth‐regulating proteins differ between British seawater fish species, shedding light on their ecological adaptations

open access: yesJournal of Fish Biology, EarlyView.
Abstract Wnt proteins are a family of molecules that help control how cells grow, develop and communicate – processes that are fundamental to the development and health of all animals. Although Wnt pathways have been studied extensively in model species, very little is known about how they operate in marine fish.
Angeliki Maravelia   +4 more
wiley   +1 more source

Using Paramecium as a Model for Ciliopathies

open access: yesGenes, 2021
Paramecium has served as a model organism for the studies of many aspects of genetics and cell biology: non-Mendelian inheritance, genome duplication, genome rearrangements, and exocytosis, to name a few. However, the large number and patterning of cilia
M. Valentine, J. Van Houten
semanticscholar   +1 more source

Mitochondrial control of ciliary gene expression and structure in striatal neurons

open access: yesThe Journal of Physiology, EarlyView.
Abstract figure legend Neurons drive animal behaviour by receiving and transmitting information and require energy, primarily supplied by mitochondria, to function. Additionally, neurons need to sense environmental changes to adapt, a function that is locally played by the primary cilia.
Dogukan H. Ulgen   +5 more
wiley   +1 more source

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

open access: yesDevelopmental Medicine &Child Neurology, Volume 68, Issue 3, Page 441-452, March 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 This original article is commented on by Scelsa on pages 311–312 of this issue. Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future ...
Avi Shariv   +12 more
wiley   +1 more source

Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract [PDF]

open access: yes, 2019
Background: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been described.
Aguayo Calcena, Aníbal   +5 more
core   +2 more sources

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