research Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
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research Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
FOXN1 gene variants cause low T cells and immune issues from birth.
research Glutamine Metabolism Controls Stem Cell Fate Reversibility and Long-Term Maintenance in the Hair Follicle
Glutamine metabolism affects hair stem cell maintenance and their ability to change back to stem cells.
research Stem Cell-Derived Motor Neurons from Spinal and Bulbar Muscular Atrophy Patients
The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
research Polycystic Ovary Syndrome: A Common But Often Unrecognized Condition
Polycystic Ovary Syndrome is common but often undiagnosed, and early treatment is important to prevent health problems.
research Non-Classic Congenital Adrenal Hyperplasia
Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
research Calcineurin/NFATc1 Signaling Links Skin Stem Cell Quiescence to Hormonal Signaling During Pregnancy and Lactation
Hormones during pregnancy and lactation keep skin stem cells inactive, preventing hair growth.
research A Splice Variant in KRT71 Is Associated with Curly Coat Phenotype of Selkirk Rex Cats
A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
research 5-Alpha-Reductase Type 2 Deficiency: Is There a Genotype-Phenotype Correlation? A Review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
research Aromatase Deficiency in a Male Patient: Case Report and Literature Review
A male with aromatase deficiency improved bone health with estradiol treatment.
research LPA3, A Unique G Protein-Coupled Receptor For Lysophosphatidic Acid
LPA3 is crucial for embryo implantation and links LPA to prostaglandin signaling.
research The Basic Science of Hair Biology
Hair disorders are caused by a complex mix of biology, genetics, hormones, and environmental factors, affecting hair growth and leading to conditions like alopecia.
research Development of Gene Therapy for Inner Ear Disease: Using Bilateral Vestibular Hypofunction as a Vehicle for Translational Research
Gene therapy, especially using atoh1, shows promise for creating functional sensory hair cells in the inner ear, but dosing and side effects need to be managed for clinical application.
research Analysis of Hidradenitis Suppurativa-Linked Mutations in Four Genes and the Effects of PSEN1-P242LfsX11 on Cytokine and Chemokine Expression in Macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
research Metabolic and Pathologic Profiles of Human LSS Deficiency Recapitulated in Mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research Telomere Dysfunction Impairs Epidermal Stem Cell Specification and Differentiation by Disrupting BMP/pSmad/P63 Signaling
Telomere damage affects skin and hair follicle stem cells by messing up important growth signals.
research Atrichia With Papular Lesions Resulting From a Novel Insertion Mutation in the Human Hairless Gene
Researchers found a new mutation causing total hair loss from birth.
research Rhombencephalosynapsis Presenting Antenatally with Ventriculomegaly/Hydrocephalus in a Likely Case of Gomez–López-Hernández Syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Cutaneous Reactions in Patients with Chronic Hepatitis C Treated with Peginterferon and Ribavirin
Some patients treated with peginterferon and ribavirin for chronic hepatitis C had mild to moderate skin reactions, but treatment did not need to be stopped.
research Androgenic Alopecia Is Associated With Less Dietary Soy, Higher Blood Vanadium, and rs1160312 Polymorphism in Taiwanese Communities
Men with more vanadium in their blood and who drink less soy milk are more likely to have hair loss.
research Molecular Basis of Androgen Action on Human Sexual Desire
Testosterone significantly affects sexual desire in both men and women, but its impact on women is more complex and influenced by psychological factors.
research A Spontaneous Deletion Within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
research Perspectives in Dermatopathology: Telomeres and Telomerase in Aging and Cancer with Emphasis on Cutaneous Disease
Short telomeres contribute to aging and cancer, and while telomerase can delay aging, it may also promote cancer.
research COVID-19 Pandemic: What About the Gonads?
COVID-19 may affect male fertility and women might have better outcomes due to hormonal and immune differences.
research Selected Variants of the Melanocortin 4 Receptor Gene (MC4R) Do Not Confer Susceptibility to Female Pattern Hair Loss
MC4R gene variants not linked to female hair loss.
research Tracing Selection Signatures in the Pig Genome Provides Evidence for Selective Pressures on a Unique Curly Hair Phenotype in Mangalitza
Selective breeding caused the unique curly hair in Mangalitza pigs.
research Steroid-Resistant Nephrotic Syndrome Associated with Steroid Sulfatase Deficiency—X-Linked Recessive Ichthyosis: A Case Report and Review of Literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Hairless Controls Hair Fate Decision via Wnt/β-Catenin Signaling
The Hairless gene is crucial for hair cell development, affecting whether skin cells become hair or skin and oil gland cells.
research Hairy Pinnae After Orchiectomy and Chemotherapy for Testicular Cancer: Acquired Localized Hypertrichosis of the Ears
A patient grew extra hair on their ears after treatment for testicular cancer, possibly due to hormonal changes or genetics.
research iNOS Inhibits Hair Regeneration in Obese Diabetic (ob/ob) Mice
iNOS contributes to hair loss in obese diabetic mice and blocking it may encourage hair growth.