research STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
Search
for
Sort by
Research
90-120 / 1000+ resultsresearch Mammalian Keratin-Associated Proteins (KRTAPs) Subgenomes: Disentangling Hair Diversity and Adaptation to Terrestrial and Aquatic Environments
Different hair types in mammals are linked to variations in specific protein genes, with changes influenced by their living environments.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Update on Melasma—Part I: Pathogenesis
Melasma's causes include genetics, sun exposure, hormones, and oxidative stress, and understanding these can help create better treatments.
research BMI1 Is Required for Melanocyte Stem Cell Maintenance and Hair Pigmentation
BMI1 is essential for preventing hair greying and maintaining hair color.
research MCPIP1 Controls Effects of Myeloid Cells on Skin Carcinogenesis and Hair Growth
MCPIP1 in myeloid cells is important for skin cancer development and healthy hair growth.
research A Small Multigene Hydroxyproline-O-Galactosyltransferase Family Functions in Arabinogalactan-Protein Glycosylation, Growth, and Development in Arabidopsis
Three genes in Arabidopsis are important for plant growth and development by affecting sugar attachment to proteins.
research Combination of Transcriptomics and Proteomics Reveals Differentially Expressed Genes and Proteins in the Skin of EDAR Gene-Targeted and Wildtype Cashmere Goats
Deleting the EDAR gene in Cashmere goats affects genes and proteins related to hair growth.
research Unveiling the Effect of Age and IgE Level on Alopecia Areata: Insights from Comparative RNAseq Analysis
Pediatric alopecia areata is more immune-active than adult cases, suggesting age-specific treatments and potential use of JAK inhibitors.
research Aligning Stem Cell Models and Postmortem Studies to Query Striatal Neurodevelopment in Schizophrenia
Schizophrenia risk genes may affect early brain development, contributing to the disease.
research Genetically Altered Expression of Spermidine/Spermine N1-Acetyltransferase Affects Fat Metabolism in Mice via Acetyl-CoA
Altering SSAT affects fat metabolism and body fat in mice.
research Pathology of Mouse Models of Accelerated Aging
Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.
research Disruption of the Temporally Regulated Cloaca Endodermal β-Catenin Signaling Causes Anorectal Malformations
Disrupting β-catenin signaling in certain cells causes anorectal malformations.
research Evidence for 1,25-Dihydroxyvitamin D3-Independent Transactivation by the Vitamin D Receptor
The vitamin D receptor can work without its usual activating molecule.
research CBL1-CIPK26-Mediated Phosphorylation Enhances Activity of the NADPH Oxidase RBOHC, but Is Dispensable for Root Hair Growth
A specific protein complex increases the activity of a plant enzyme, but this action is not required for plant root hair growth.
research Remodeling of Root Growth Under Combined Arsenic and Hypoxia Stress Is Linked to Nutrient Deprivation
Combined arsenic and low oxygen stress alters root growth to help plants absorb nutrients.
research Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene
A mouse gene mutation increases the risk of skin cancer.
research Fibroblasts: Immunomodulatory Factors in Refractory Diabetic Wound Healing
Fibroblasts are important in healing diabetic wounds, but high sugar levels can harm their function and slow down the healing process.
research The Transient Role of Calcium and Vitamin D During the Developmental Hair Follicle Cycle
Vitamin D and calcium are essential for normal hair growth.
research The 1,25-Dihydroxyvitamin D3-Independent Actions of the Vitamin D Receptor in Skin
The vitamin D receptor helps regulate skin and hair health independently of its usual vitamin D ligand.
research Enhanced Expansion and Sustained Inductive Function of Skin-Derived Precursor Cells in Computer-Controlled Stirred Suspension Bioreactors
Using bioreactors, scientists can grow more skin stem cells that keep their ability to regenerate skin and hair.
research Editorial: Mesenchymal Stromal Cell Therapy for Regenerative Medicine
Mesenchymal stromal cell therapies show promise for treating various diseases but need more research and standardization.
research Thymic Stromal Lymphopoietin Controls Hair Growth
Thymic stromal lymphopoietin (TSLP) promotes hair growth, especially after skin injury.
research A Case Series and Literature Review of Telogen Effluvium and Alopecia Universalis After the Administration of a Heterologous COVID-19 Vaccine Scheme
Some people experienced hair loss after COVID-19 vaccination, but it's very rare and vaccines' benefits are greater than this risk.
research Phenotypic Heterogeneity in Human Genetic Diseases: Ultrasensitivity-Mediated Threshold Effects as a Unifying Molecular Mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research Metabolic Features of the Reproductive Phenotypes of Polycystic Ovary Syndrome
Women with the NIH type of PCOS have more obesity and higher risk of diabetes and heart disease than those with other types of PCOS.
research Complementary Evolution of Coding and Noncoding Sequence Underlies Mammalian Hairlessness
Hairless mammals have genetic changes in both their protein-coding and regulatory sequences related to hair.
research Evidence for Masculinization of Adipokine Gene Expression in Visceral and Subcutaneous Adipose Tissue of Obese Women With Polycystic Ovary Syndrome
Obese women with PCOS show a male-like pattern in certain fat tissue gene expressions.
research Clinical Characteristics in Taiwanese Women with Polycystic Ovary Syndrome
Taiwanese women with PCOS experience different symptoms based on age, with younger women facing more hormone imbalances and older women dealing with more metabolic issues.
research National Scientific Medical Meeting 1996 Abstracts
The document summarizes medical findings on topics like heart rhythm treatment, sleep apnea therapy, and various health conditions and treatments.