research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
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research Whole Genome Sequencing Analysis of Alpaca Suggests TRPV3 as a Candidate Gene for the Suri Phenotype
The TRPV3 gene variant may cause the long-haired suri alpaca coat.
research Targeting Oxidative Stress and Mitochondrial Dysfunction in the Treatment of Impaired Wound Healing: A Systematic Review
Treatments that reduce oxidative stress and fix mitochondrial problems may help heal chronic wounds.
research Endocrinology
The document concludes that inflammation markers can be used in diabetes, vitamin D3 affects immune pathways, hyperthyroidism changes hormone levels, androgen levels help diagnose Adrenocortical Carcinoma, erectile dysfunction is linked to diabetes, hypogonadism is common in HIV-infected males, and hormones can be biomarkers for various conditions.
research Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer
TGM3 is important for skin and hair structure and may help diagnose cancer.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Comparative Genome Analyses Reveal the Unique Genetic Composition and Selection Signals Underlying the Phenotypic Characteristics of Three Chinese Domestic Goat Breeds
Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research The Incidence of Alopecia Areata in a COVID-19 Vaccinated Population: A Single-Center Review
COVID-19 vaccination does not significantly increase the risk of developing alopecia areata.
research Physiological Functions of PP2A: Lessons from Genetically Modified Mice
Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
research Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development
The PP2A-B55α protein is essential for brain and skin development in embryos.
research A Connection Between the Mitochondrial Permeability Transition Pore, Autophagy, and Cerebral Amyloidogenesis
Dutasteride may help reduce brain plaque linked to Alzheimer's by affecting cell energy structures and waste removal.
research Autophagy: Guardian of Skin Barrier
Autophagy helps keep skin healthy and may improve treatments for skin diseases.
research Apoptosis in Hair and Skin: A Review
The study concludes that regulating apoptosis could lead to new treatments for various skin and hair conditions.
research Volatile Organic Compounds: A Proinflammatory Activator in Autoimmune Diseases
Volatile organic compounds can cause inflammation and increase the risk of autoimmune diseases.
research Particulate Matter 2.5 Damages Skin Cells by Inducing Oxidative Stress, Subcellular Organelle Dysfunction, and Apoptosis
Tiny pollution particles called PM2.5 can harm skin cells by causing stress, damage to cell parts, and cell death.
research Human Biallelic MFN2 Mutations Induce Mitochondrial Dysfunction, Upper Body Adipose Hyperplasia, and Suppression of Leptin Expression
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
research Decision Letter: Human Biallelic MFN2 Mutations Induce Mitochondrial Dysfunction, Upper Body Adipose Hyperplasia, and Suppression of Leptin Expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research Finasteride Induces Epigenetic Modulation of LSP1: A Gene Implicated in Neutrophil Actin Dysfunction Disease
Finasteride may help treat Neutrophil Actin Dysfunction by reducing LSP1 gene activity.
research Identification of Key Genes in Type 2 Diabetes-Induced Erectile Dysfunction Rats with Stem Cell Therapy Through High-Throughput Sequencing and Bioinformatic Analysis
Stem cell therapy affects 15 key genes in rats with diabetes-related erectile dysfunction.
research TSPO Ligand Etifoxine Attenuates LPS-Induced Cognitive Dysfunction in Mice
Etifoxine, an anxiety drug, can lessen brain inflammation and cognitive issues in mice, partly by increasing production of protective brain steroids.
research Autophagy Controls the Protein Composition of Hair Shafts
Autophagy changes the protein makeup of hair.
research Novel TMEM173 Mutation and the Role of Disease-Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research Relationship Between Betacoronaviruses and the Endocrine System: A New Key to Understand the COVID-19 Pandemic—A Comprehensive Review
Betacoronaviruses, like COVID-19, may cause hormone system dysfunction and affect disease susceptibility and severity.
research News in Brief
A new protein linked to Alzheimer's was discovered, and a hair loss treatment showed effectiveness but had some sexual side effects.
research Characterization of Novel TMEM173 Mutation Causing a Lupus- and SAVI-Like Phenotype, Modified by Polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Effect of Finasteride Treatment and Its Withdrawal in the Rat Corpus Cavernosum
Finasteride treatment may cause erectile dysfunction, but stopping it reverses these effects.
research FLCN, A Novel Autophagy Component, Interacts With GABARAP And Is Regulated By ULK1 Phosphorylation
The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
research SIRT7 Activates Quiescent Hair Follicle Stem Cells to Ensure Hair Growth in Mice
SIRT7 protein is crucial for starting hair growth in mice.