research Estudo da diversidade dos genes MC1R e SLC24A5 em populações globais: avaliação de aspectos evolutivos e ambientais
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
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research A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
Genetic factors influence hair traits like shape, color, and greying in Latin Americans.
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 Characterization of X-Linked SNP genotypic variation in globally distributed human populations
The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
research Diagnostic approach to low‐renin hypertension
Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
research Developmental genetics of color pattern establishment in cats
Cat color patterns are determined early in development by gene expression and epidermal changes, with the Dickkopf 4 gene playing a crucial role.
research Celsr1 and Celsr2 exhibit distinct adhesive interactions and contributions to planar cell polarity
Celsr1 is crucial for skin cell alignment, while Celsr2 has little effect on this process.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations
NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
research Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research International Journal of KIU
Genetics influence opioid addiction risk, diet affects COVID-19 severity, Aerva lanata may harm kidneys, some plants fight fungi and cancer, and nursing students need better contraceptive knowledge.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research Australian Hair and Wool Research Society Cutaneous Biology and Endocrinology Workshop
The workshop highlighted the genetic links and psychological impacts of hair loss and skin disorders.
research Improving human forensics through advances in genetics, genomics and molecular biology
DNA profiling in forensics has improved, but predicting physical traits and ancestry from DNA has limitations and requires ethical consideration.
research Melatonin in the skin: synthesis, metabolism and functions
Melatonin in the skin helps protect against damage from stress and UV rays, and could be used to treat certain skin conditions.
research The 5 Alpha-Reductase Isozyme Family: A Review of Basic Biology and Their Role in Human Diseases
The document concludes that the 5 alpha-reductase enzymes are important in steroid metabolism and related to various human diseases, with inhibitors used to treat conditions like male pattern baldness and prostate issues.
research Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research WNT Signaling in Disease
The WNT signaling pathway is important in many diseases and targeting it could offer new treatments.
research Stretching the limits: from homeostasis to stem cell plasticity in wound healing and cancer
Stem cell plasticity is crucial for wound healing but can also contribute to cancer development.
research Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women
The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
research Keratin disorders: from gene to therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Melatonin and the hair follicle
Melatonin helps regulate hair growth and protects the hair follicle from stress.
research Quantitative Single-Cell Approaches to Stem Cell Research
New single-cell analysis techniques are improving our understanding of stem cells and could help in treating diseases.
research A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females
A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
research The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis
A mutation in the KRT75 gene causes frizzle feathers in chickens.
research Biology and Genetics of Hair
The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
research Role of genetics and sex steroid hormones in male androgenetic alopecia and female pattern hair loss: An update of what we now know
Genetics and hormones play a role in male and female hair loss, but more research is needed to fully understand it.
research Alopecia areata: Animal models illuminate autoimmune pathogenesis and novel immunotherapeutic strategies
Animal models have helped understand hair loss from alopecia areata and find new treatments.
research Activin Controls Skin Morphogenesis and Wound Repair Predominantly via Stromal Cells and in a Concentration-Dependent Manner via Keratinocytes
Activin helps skin growth and healing mainly through stromal cells and affects keratinocytes based on its amount.
research Gene-wide association study between the aromatase gene (CYP19A1) and female pattern hair loss
Aromatase gene variation may increase female hair loss risk.
research Polycystic ovary syndrome and impact on health
PCOS affects women's health by increasing the risk of diabetes, heart disease, and reproductive issues.