research Atypical Progeroid Syndrome Due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
Search
for
Sort by
Research
30-60 / 1000+ results 
research Congenital Adrenal Hyperplasia: A Comprehensive Review
The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
research Polycystic Ovary Syndrome and Its Impact on Health
PCOS affects women's health by increasing the risk of diabetes, heart disease, and reproductive issues.
research Perspectives of Kennedy's Disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
research A Position Effect on TRPS1 Is Associated with Ambras Syndrome in Humans and the Koala Phenotype in Mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research Antiandrogen Therapy with Spironolactone for the Treatment of Hidradenitis Suppurativa
Spironolactone helps reduce pain and lesions in hidradenitis suppurativa patients, and lower doses are also effective.
research The Role of Stem Cells in Cutaneous Wound Healing: What Do We Really Know?
Stem cells have great potential for improving wound healing, but more research is needed to find the best types and ways to use them.
research Prevalence of CYP21 Mutations and IRS1 Variant Among Women With Polycystic Ovary Syndrome and Adrenal Androgen Excess
Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
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 Hairless Is a Nuclear Receptor Corepressor Essential for Skin Function
Hairless protein is crucial for healthy skin and hair, and its malfunction can cause hair loss.
research Management of Congenital Adrenal Hyperplasia During Pregnancy
With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
research Common Variants in the Sex Hormone-Binding Globulin Gene Influence SHBG Levels in Women with Polycystic Ovary Syndrome
Certain SHBG gene variants, like rs727428, are linked to higher testosterone levels in women with PCOS.
research Inhibition of 3-Methylcrotonyl-CoA Carboxylase Explains the Increased Excretion of 3-Hydroxyisovaleric Acid in Valproate-Treated Patients
Valproic acid treatment increases a specific acid in urine by blocking an enzyme, possibly causing skin rash and hair loss.
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 Spironolactone and XPB: An Old Drug with a New Molecular Target
Spironolactone, a heart and liver drug, has new uses including cancer treatment, viral infection prevention, and skin condition improvement.
research Congenital Adrenal Hyperplasia: A Detailed Review of 21-Hydroxylase Deficiency
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research Dermatopathology and Molecular Genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Androgenetic Alopecia in Heterozygous Carriers of a Mutation in the Human Hairless Gene
Mutation in hairless gene may increase hair loss risk.
research Expression of Mesenchymal Stem Cell Marker CD90 on Dermal Sheath Cells of the Anagen Hair Follicle in Canine Species
CD90 is present on specific cells in dog hair follicles.
research Early-Onset Baldness and the Risk of Aggressive Prostate Cancer: Findings from a Case-Control Study
Men who start balding at age 20 may have a higher chance of getting aggressive prostate cancer.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Atrichia with Papular Lesions in a Taiwanese Patient Without Hairless (HR) Gene Mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research Polycystic Ovary Syndrome: Comprehensive Management and Health Impacts
PCOS is a common hormonal disorder in women that can lead to various health issues and requires comprehensive management.
research Androgenetic Alopecia in Heterozygous Carriers of a Mutation in the Human Hairless Gene
Mutation in hairless gene may increase hair loss risk.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research The Influence of Flightless I: Regeneration Versus Wound Healing
Blocking RANK signaling might help treat metastatic melanoma, but more research is needed.
research Diagnostic Criteria for Polycystic Ovary Syndrome
The conclusion is that a more comprehensive and precise approach is needed for diagnosing PCOS to address its broader health risks.
research Postmenopausal Alopecia (Hair Loss)
Over 40% of postmenopausal women experience hair loss, with treatments aiming to stop further loss and possibly thicken hair.
research Hairless: A Nuclear Receptor Corepressor Essential for Skin Function
The Hairless gene is crucial for healthy skin and hair growth.
research Syndromes of Severe Insulin Resistance
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.