research The Rotterdam Study: 2014 objectives and design update
The Rotterdam Study aims to understand disease causes in the elderly and has found new risk factors and genetic influences on various conditions.
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research Drug eruptions in dermatology
Skin reactions to drugs are common and can be deadly, usually requiring stopping the drug and may be better prevented with genetic testing in the future.
research Female pattern hair loss
FPHL is a common, age-related, genetic hair loss with unclear causes and limited treatment options.
research PCOS in adolescents
PCOS in teens is hard to diagnose, linked to genetics and lifestyle, and managed with weight loss and medication.
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 Hair Changes Caused by Aging
Aging causes hair to gray and thin, with the timing of graying varying by race, and factors like oxidative stress and genetics can lead to hair loss.
research Stem Cell Heterogeneity and Plasticity in Epithelia
Different types of stem cells exist within individual skin layers, and they can adapt to damage, transplantation, or tumor growth. These cells are regulated by their environment and genetic factors. Tumor growth is driven by expanding, genetically altered cells, not long-lived mutant stem cells. There's evidence of cancer stem cells in skin tumors. Other cells, bacteria, and genetic factors help maintain balance and contribute to disease progression. A method for growing mini organs from single cells has been developed.
research Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis
Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
research Understanding Causes of Hair Loss in Women
The conclusion is that hair loss in women is caused by a mix of hormonal, environmental, and genetic factors, and treatments should target these various causes.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
research Finding bald spots on chromosome 20p11
New genes linked to male pattern baldness were found on chromosome 20p11.
research The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
research Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous
Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research Hair Loss: Pathogenesis and Prevention: A Literature Review
Hair loss is caused by genetics, hormones, stress, and environment, and can be managed with good nutrition, stress control, and treatments.
research Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency
Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
research Effect of lentivirus-mediated miR-182 targeting FGF9 on hallux valgus
miR-182 may help treat hallux valgus by targeting FGF9.
research Hidradenitis Suppurativa: From Physiopathologies to Targeted Therapeutics
Hidradenitis suppurativa is a chronic skin disorder linked to genetics, lifestyle, and immune issues, treatable with medications and surgery.
research Hidradenitis Suppurativa: From Physiopathologies to Targeted Therapeutics
Hidradenitis suppurativa is a chronic skin disorder linked to genetics, lifestyle, and immune issues, treatable with medication and sometimes surgery.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Red Blood Cells Folate Level in Patients with Alopecia Areata
Red blood cell folate levels are reliable indicators of long-term folate status in alopecia areata patients.
research Regulatory pathways implicated in male androgenetic alopecia pathogenesis
Genes controlling hair growth and immune response are disrupted in male pattern baldness.
research Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research A Pharmacogenetic Survey of Androgen Receptor (CAG)N and (GGN)N Polymorphisms in Patients Experiencing Long Term Side Effects after Finasteride Discontinuation
Longer CAG and GGN repeats increase alopecia risk, but no significant link to post-finasteride syndrome found.
research Advances in molecular pathogenesis of hidradenitis suppurativa: Dysregulated keratins and ECM signaling
Recent findings suggest that genetic factors, immune system issues, and skin cell defects might contribute to the development of hidradenitis suppurativa.
research Exploring Hirsutism: Epidemiology, Associated Endocrinal Abnormalities, and Societal Challenges in GCC—A Narrative Review
Hirsutism in GCC countries is influenced by genetics, obesity, and lifestyle, with cultural stigma delaying treatment, highlighting the need for tailored health strategies.
research Tracing the cellular origin of cancer
Understanding where cancer cells come from helps create better prevention and treatment methods.
research Female androgenetic alopecia: An update
Hair loss in women can be slowed with treatment, but more research needed for better solutions.