Results 41 to 50 of about 5,402 (155)

South African Herbal Teas and Diabetes‐Mediated Mitochondrial Dysfunction: Emerging Evidence and Mechanistic Insights

Journal of Food Science, Volume 91, Issue 8, August 2026.
ABSTRACT Type 2 diabetes mellitus (T2DM) is a central component of the metabolic syndrome (MetS) and is associated with underlying mitochondrial dysfunction. Disruption of mitochondrial homeostasis impairs cellular energy metabolism and contributes to the overproduction of reactive oxygen species (ROS), leading to oxidative stress, chronic inflammation,
Shanika Reddy, Naeem Sheik Abdul, Taskeen Fathima Docrat, Jeanine Marnewick   +3 more
wiley   +1 more source

When you find a tooth in the brain, call joubert for help

APIK Journal of Internal Medicine, 2020
Joubert syndrome is an extremely rare autosomal recessive condition characterized by agenesis of the cerebellar vermis. This has characteristic imaging features which have been described in this article.
Suhas Murali, Karthik Nagraj
doaj   +1 more source

Coping, Subjective Burden and Mental Health in Family Carers of Dependent Children and Adolescents: A Systematic Review With Meta‐Analysis

Journal of Psychiatric and Mental Health Nursing, Volume 33, Issue 4, Page 573-598, August 2026.
ABSTRACT Introduction Caring for dependent children and adolescents places a substantial emotional and psychological burden on families. Coping strategies may influence the mental health of family carers. Aim To systematically review how coping strategies relate to subjective burden, anxiety, and depressive symptoms in family carers of dependent ...
Juan Carlos Muñoz‐Cruz, Catalina López‐Martínez, Vasiliki Orgeta, Rafael Del‐Pino‐Casado   +3 more
wiley   +1 more source

Joubert syndrome: a case report

Bulletin of Faculty of Physical Therapy, 2021
Background Joubert syndrome (JS) is a rare autosomal recessive genetic heterogeneously inherited disorder characterized by neurological features that include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and ...
Sarfaraz Alam, Fatema Khatoon, Nazim Khan   +2 more
doaj   +1 more source

Centriolar Protein POC5 Regulates Human Adipogenesis and Cellular Senescence: Insights From a Novel Metabolic Ciliopathy

The FASEB Journal, Volume 40, Issue 14, 31 July 2026.
The identification of a patient carrying a novel homozygous p.(Gln206Ter) POC5 variant revealed a metabolic phenotype associated with POC5 deficiency. POC5 deficiency disrupts centriolar architecture and ciliary organization, leading to impaired proliferation, premature cellular senescence, and reduced insulin signaling.
Valeria Pistorio, Camille Vatier, Émilie Capel, Carine Beaupère, Martine Auclair, Virginie Steunou, Romain Morichon, Michael Joubert, Corinne Vigouroux, Jérémie Gautheron, Isabelle Jéru   +10 more
wiley   +1 more source

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

HGG Advances, 2021
Summary: The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a microtubule-based, antenna-like organelle that projects from the surface of most human cell ...
Julie C. Van De Weghe, Jessica L. Giordano, Inge B. Mathijssen, Majid Mojarrad, Dorien Lugtenberg, Caitlin V. Miller, Jennifer C. Dempsey, Mahsa Sadat Asl Mohajeri, Elizabeth van Leeuwen, Eva Pajkrt, Caroline C.W. Klaver, Henry Houlden, Atieh Eslahi, Aoife M. Waters, Michael J. Bamshad, Deborah A. Nickerson, Vimla S. Aggarwal, Bert B.A. de Vries, Reza Maroofian, Dan Doherty   +19 more
doaj   +1 more source

Primary cilia–extracellular vesicle crosstalk in Alzheimer's disease: Emerging mechanisms and biomarker potential

Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.
Abstract Alzheimer's disease (AD) is a neurodegenerative condition marked by cognitive decline and synaptic issues. Recent studies show primary cilia (PCs), sensory organelles present on the surface of most mammalian cells, act as a critical regulators of brain homeostasis and signaling.
Vishal Singh Guleria, Charisse N. Winston   +1 more
wiley   +1 more source

Mechanistic Links Between Obesity and Breast Cancer Progression: Cellular Crosstalk, Metabolic Reprogramming and Microenvironmental Drivers

Cell Biochemistry and Function, Volume 44, Issue 7, July 2026.
ABSTRACT Obesity is increasingly recognised as an important factor contributing to cancer progression, particularly in breast cancer. However, the cellular and molecular mechanisms underlying obesity‐driven breast cancer remain unclear. Several theories have been proposed to explain the complex interactions between adipose tissue and cancer ...
Charlise Basson, Michael S. Pepper, Anna M. Joubert, Melvin A. Ambele   +3 more
wiley   +1 more source

Joubert syndrome [PDF]

Neurosciences (Riyadh, Saudi Arabia), 2020
Asmaa, Alenizi, Khalid, Hundallah
  +6 more sources

Adult-onset bulbar ptosis in Joubert syndrome

Clinical Ophthalmology, 2012
Benjamin Burt, Johanan Levine, Kim LeTexas Tech University, Department of Ophthalmology, Paul L Foster School of Medicine, El Paso, TexasAbstract: In this case report, we describe a case of adult-onset bulbar ptosis in a patient with Joubert syndrome ...
Burt B, Levine J, Le K
doaj