research The impact of VDR expression and regulation in vivo
VDR regulation varies by tissue and is crucial for its biological functions.
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900-930 / 1000+ resultsresearch Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research Evaluation of androgen receptor gene as a candidate gene in female androgenetic alopecia
AR gene not major factor in female hair loss; different from male hair loss.
research Antimüllerian hormone to determine polycystic ovarian morphology
A blood test level of 3.2 ng/mL of Antimüllerian hormone is good for identifying polycystic ovarian morphology in European women aged 25–45.
research Foxn1 in Skin Development, Homeostasis and Wound Healing
Foxn1 is crucial for skin development and healing, and altering its expression may aid regenerative medicine.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Relevance of the Axis Spermidine/eIF5A for Plant Growth and Development
Spermidine is essential for plant growth and adaptation to stress.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
research A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu
A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
research Integrated miRNA-mRNA analysis reveals regulatory pathways underlying the curly fleece trait in Chinese tan sheep
Researchers found genes and microRNAs that control curly fleece in Chinese Tan sheep.
research PCOS: update and diagnostic approach
The document concludes that more research is needed to fully understand the causes of PCOS.
research The Notch Intracellular Domain Has an RBPj-Independent Role during Mouse Hair Follicular Development
The Notch signaling pathway helps in mouse hair development through a noncanonical mechanism that does not rely on RBPj or transcription.
research Prevalence and characteristics of polycystic ovary syndrome in Brazilian women: protocol for a nation-wide case–control study
PCOS is common in Brazilian women and linked to metabolic and reproductive issues.
research Free androgen index (FAI)’s relations with oxidative stress and insulin resistance in polycystic ovary syndrome
Oxidative stress, not insulin resistance, is significantly related to free androgen index in PCOS.
research Approach to androgen excess in women: Clinical and biochemical insights
The document concludes that a systematic approach is crucial to identify causes of androgen excess in women beyond the most common cause, Polycystic ovary syndrome (PCOS).
research Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector
MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
research Hyperandrogenism in Adolescent Girls
The conclusion is that a thorough approach is needed to diagnose and manage hyperandrogenism in teenage girls, recognizing its major psychological and health effects.
research Genome-wide association study for cashmere traits in Inner Mongolia cashmere goat population reveals new candidate genes and haplotypes
New genes and markers can help breed better cashmere goats.
research From Primary MSC Culture of Adipose Tissue to Immortalized Cell Line Producing Cytokines for Potential Use in Regenerative Medicine Therapy or Immunotherapy
The HATMSC1 cell line from fat tissue can produce helpful factors for regenerative and immune therapies.
research Early embryonic exposure of freshwater gastropods to pharmaceutical 5-alpha-reductase inhibitors results in a surprising open-coiled “banana-shaped” shell
Certain drugs change freshwater snail shells to a "banana" shape.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Prevalence of polycystic ovary syndrome in Thai University adolescents
About 5% of Thai university girls aged 17-19 have polycystic ovary syndrome, with moderate acne being a strong risk factor.
research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research Evaluation of Personalized Skincare Through in-silico Gene Interactive Networks and Cellular Responses to UVR and Oxidative Stress
Personalized skincare can be improved by understanding genetic differences and using compounds like Resveratrol and Quercetin.
research Mesothelial Stem Cells and Stromal Vascular Fraction for Skin Rejuvenation
Adipose-derived stem cells show potential for skin rejuvenation and wound healing but require more research to overcome challenges and ensure safety.
research The hair shaft: normality, abnormality, and genetics
Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.