research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
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720-750 / 1000+ results research 080 Mouse models of alopecia areata: C3H/HeJ mice versus the humanized AA mouse model
The humanized AA mouse model is better for testing new alopecia areata treatments.
research Woodhouse-Sakati syndrome (WSS)
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research LB943 Tofacitinib treatment of inflammatory skin conditions in patients with Down Syndrome
Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
research Virilism and Ectopic Expression of HSD17B5 in Mature Cystic Teratoma
A woman's mature cystic teratoma caused her virilization by producing testosterone.
research sc-eQTL unveil Immunogenetic Architecture of Polycystic Ovary Syndrome
PCOS involves genetic and immune factors, especially T cells, affecting its development.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Signal integrator function of CXXC5 in Cancer
CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
research MON-194 A Case Of Sertoli Cell Tumor In A Patient With Familial Partial Lipodystrophy Type 2
A rare ovarian tumor was found in a young woman with a genetic fat disorder.
research Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>ALIPH mutation
Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
research Androgen Receptor Gene Polymorphism and Prostate Zonal Volumes in Australian and Chinese Men
CAG repeat polymorphism and prostate zone volume are not reliable markers of long-term androgen sensitivity.
research Clinical analysis of 78 patients with non-classical 21-hydroxylase deficiency
Low-dose glucocorticoid treatment improves pregnancy and birth rates in women with nonclassical 21-hydroxylase deficiency.
research Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness
A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.
research 266 Myristoylphorbol Acetate (MPA) Enhances Metastasis Via Up-regulation of Eph A2 Transcription Activity
MPA increases cancer spread by boosting Eph A2 activity.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Myotonic dystrophy type 1
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research Hepatitis C ‐related mixed type vitiligo in a patient with I vemark syndrome
A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
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 Safety and efficacy of advanced and targeted acid α-glucosidase (AT-GAA) (ATB200/AT2221) in ERT-switch nonambulatory patients with Pompe disease: preliminary results from the ATB200-02 trial
The combination of tadalafil and finasteride improves urinary symptoms and erectile function in men with enlarged prostates.
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.
research Trichothiodystrophy: Current Concepts
TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
research Genetic Single Nucleotide Polymorphisms of IL-16 and its Concentration of Patients Infected with Alopecia Areata in Diyala Province, Iraq
Certain genetic variations in IL-16 may increase the risk of alopecia areata.
research Simultaneous occurrence of neuromyotonia and morphoea: a cause-effect relationship?
Neuromyotonia and morphoea can occur together in the same body areas.
research Association study reveals a susceptibility locus with male pattern baldness in the Han Chinese population
A specific genetic marker is linked to male pattern baldness in Han Chinese men.
research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family
The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
research Genetics and Epigenetics of Polycystic Ovary Syndrome
Genes and epigenetic changes are important in the development of Polycystic Ovary Syndrome.
research A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
A specific gene mutation causes long hair in Angora rabbits.
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.
research Genetic deletion of TNFα inhibits ultraviolet radiation-induced development of cutaneous squamous cell carcinomas in PKCε transgenic mice via inhibition of cell survival signals
Deleting TNFα gene reduces skin cancer risk in certain mice.