research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
Search
for
Sort by
Research
390-420 / 1000+ results research Analysis of the heterogeneity and complexity of murine extraorbital lacrimal gland via single-cell RNA sequencing
The research mapped diverse cell types in mouse lacrimal glands, aiding understanding of gland biology and diseases.
research Fibroblast heterogeneity and tertiary lymphoid tissues in the kidney
Different types of fibroblasts play various roles in kidney repair and aging, and may affect chronic kidney disease outcomes.
research Decision letter: Smad4 restricts differentiation to promote expansion of satellite cell derived progenitors during skeletal muscle regeneration
Smad4 is crucial for muscle repair, especially in aging, by promoting cell growth over differentiation.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
research 1430 Autophagy controls the protein composition of hair shafts
Autophagy is important for determining the protein makeup of hair.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Electro-optical imaging of F-actin and endoplasmic reticulum in living and fixed plant cells.
Imaging living plant cells shows dynamic changes in actin and endoplasmic reticulum linked to root hair growth.
research Stem cells, organoids and their applications for human diseases: Special issue of BMB Reports in 2023
Organoids created from stem cells are used to model diseases, test drugs, and develop personalized and regenerative medicine.
research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research 1314 Advanced age impairs self-renewal and biases fate choice of hair follicle dermal stem cells
Older hair follicle stem cells have a reduced ability to renew themselves, leading to more hair loss.
research Abnormalities of Purkinje Cell Arborization in Brindled Mouse Cerebellum
Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
research The bright side of fibroblasts: molecular signature and regenerative cues in major organs
Fibroblasts, cells usually linked to tissue repair, also help regenerate various organs and their ability decreases with age. Turning adult fibroblasts back to a younger state could be a new treatment approach.
research Carence en fer et troubles digestifs
Iron deficiency can cause fatigue, exercise intolerance, and cognitive issues, even without anemia.
research Dietary Selenium Deprivation Oppositely Impacts Longevity and Healthspan in Telomere Dysfunctional Mice
Low selenium levels worsen health but increase lifespan in mice.
research Chaos and antichaos in pathology
Understanding chaos and control mechanisms in disease can improve diagnosis and prediction in medicine.
research Mutant Cx43 in Skin Differentiation and Disease
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
research Viewpoint 3
Oxidative stress plays a significant role in vitiligo, and both skin and non-skin cells may be involved.
research PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
research Glycogen phase separation drives macromolecular rearrangement and asymmetric division in E. coli
Glycogen helps E. coli cells divide unevenly and organize their contents.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research Characterization of the Role of Transferrin receptor 1 (Tfr1) in the Intestinal Epithelium, Pancreas, and Skin
Transferrin receptor 1 is essential for normal function in the intestines, pancreas, and skin.
research NAD⁺ Biology in Ageing and Chronic Disease: Mechanisms and Evidence across Skin, Fertility, Osteoarthritis, Hearing and Vision Loss, Gut Health, Cardiovascular–Hepatic Metabolism, Neurological Disorders, and Muscle
Restoring NAD⁺ may help with aging and chronic diseases, but more research is needed.
research Wwox Deficiency Causes Downregulation of Prosurvival ERK Signaling and Abnormal Homeostatic Responses in Mouse Skin
WWOX deficiency in mice causes skin and fat tissue problems due to disrupted cell survival signals.
research Iron Deficiency in Immune-Mediated Inflammatory Skin Diseases: A Missing Link Between Systemic Inflammation, Immunometabolism, and Disease Burden
Iron deficiency worsens inflammatory skin diseases by disrupting iron balance and increasing inflammation.
research Toxic and Metabolic Disorders of the Nervous System
Certain vitamins in wrong amounts, alcohol abuse, metals, and other toxins can cause serious brain and nerve damage.
research Metabolic and transcriptomic reprogramming during contact inhibition-induced quiescence is mediated by YAP-dependent and YAP-independent mechanisms
Quiescent cells have increased mitochondrial activity and ECM gene expression, but reduced glycolysis.
research Clinical Snippets
Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.