research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
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research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research Genome-wide association study of skin complex diseases
Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
research Skin-specific regulation of SREBP processing and lipid biosynthesis by glycerol kinase 5
A gene called Gk5 controls lipid production in the skin and affects hair growth.
research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Muscle pain in a woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency resolved with testosterone therapy. A case report with 10 years of follow-up
Testosterone therapy improved symptoms in a woman with congenital adrenal hyperplasia.
research Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research References
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research Increased frequency of the DI genotype of the angiotensin-I converting enzyme and association of the II genotype with insulin resistance in polycystic ovary syndrome
The study suggests certain ACE gene variations are more common in women with PCOS and may be linked to increased insulin resistance.
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 Consensus on women’s health aspects of polycystic ovary syndrome (PCOS): the Amsterdam ESHRE/ASRM-Sponsored 3rd PCOS Consensus Workshop Group
Experts agree that PCOS affects women's health in complex ways, but more research is needed to understand and treat it effectively.
research Epidermal homeostasis: a balancing act of stem cells in the skin
Skin stem cells are crucial for maintaining and repairing the skin and hair, using a complex mix of signals to do so.
research Vitiligo: A comprehensive overview
Vitiligo is a skin condition causing white spots, more common in women, often starts before age 20, and can affect mental health.
research Epithelial Stem Cells: Turning over New Leaves
Epithelial stem cells are crucial for tissue renewal and repair, and understanding them could improve treatments for damage and cancer.
research Phenotypic Plasticity: Driver of Cancer Initiation, Progression, and Therapy Resistance
Understanding phenotypic plasticity is crucial for developing effective cancer therapies.
research Alopecia areata update
Half of people with Alopecia Areata may see hair regrowth within a year without treatment, but recovery is unpredictable.
research Evidence-Based and Potential Benefits of Metformin in the Polycystic Ovary Syndrome: A Comprehensive Review
Metformin helps with menstrual cycles and insulin levels in PCOS but is less effective for hair growth, diabetes prevention, and weight loss, and may improve fertility and reduce diabetes risk.
research Live imaging of stem cell and progeny behaviour in physiological hair-follicle regeneration
Hair regeneration needs dynamic cell behavior and mesenchyme presence for stem cell activation.
research The circadian molecular clock creates epidermal stem cell heterogeneity
The circadian clock affects skin stem cell behavior, impacting aging and cancer risk.
research A family business: stem cell progeny join the niche to regulate homeostasis
Stem cell offspring help control their parent stem cells, affecting tissue health, healing, and cancer.
research Safety and efficacy of the JAK inhibitor tofacitinib citrate in patients with alopecia areata
Tofacitinib is safe and effective for severe alopecia areata, but hair loss may return 2 months after stopping treatment.
research Eph Receptors and Ephrins: Therapeutic Opportunities
Eph receptors and ephrins may be promising targets for treating diseases, but more understanding is needed for effective and safe therapies.
research Follicular transport route – Research progress and future perspectives
Hair follicles help absorb and store topical compounds, aiding targeted drug delivery.
research Stem cell niches in mammals
Stem cell niches are crucial for regulating stem cell renewal and differentiation, and understanding them can help in developing regenerative therapies.
research Hair follicle stem cells: Walking the maze
Hair follicle stem cells are key for hair and skin regeneration, can be reprogrammed, and have potential therapeutic uses, but also carry a risk of cancer.
research Molecular biology of hair morphogenesis: Development and cycling
Understanding hair growth involves complex interactions between molecules and could help treat hair disorders.