research Immune Deficiency-Related Enteropathy-Lymphocytopenia-Alopecia Syndrome Results from Tetratricopeptide Repeat Domain 7A Deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
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research Structure of Human Steroid 5α-Reductase 2 with the Anti-Androgen Drug Finasteride
Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.
research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility
Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
research Four-Amino Acid Segment in Steroid 5 Alpha-Reductase 1 Confers Sensitivity to Finasteride, a Competitive Inhibitor
Four-amino acid part makes enzyme sensitive to finasteride.
research Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research A Novel Homozygous Variant in the DSP Gene Underlies the First Case of Non-Syndromic Form of Alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Roles of Msx and Dlx Homeoproteins in Vertebrate Development
Msx and Dlx genes are crucial for development, controlling cell behaviors like growth and differentiation through their roles as gene regulators.
research Cell Cycle Regulation and Regeneration
Mice that can regenerate tissue have cells that pause in the cell cycle, which is important for healing, similar to axolotls.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Antiandrogenic Activity of Riboflavin 5′-Phosphate (FMN) in 22Rv1 and LNCaP Human Prostate Cancer Cell Lines
Riboflavin 5′-phosphate (FMN) shows potential for treating androgen-related conditions but may be limited in treating prostate cancer.
research A Novel Mutation in ST14 at a Functionally Significant Amino Acid Residue Expands the Spectrum of Ichthyosis-Hypotrichosis Syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
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 Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes
The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
research Candidate SNP Markers of Reproductive Potential Predicted by Significant Change in Affinity of TATA-Binding Protein for Human Gene Promoters
Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATP Channel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Disease Causing Homozygous Variants in the Human Hairless Gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research FOXN1 Deficient Nude Severe Combined Immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Alopecia in a Viable Phospholipase C Delta 1 and Phospholipase C Delta 3 Double Mutant
Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
research Identification of an Intronic Regulatory Element Necessary for Tissue-Specific Expression of Foxn1 in Thymic Epithelial Cells
A specific DNA region is crucial for Foxn1 gene expression in thymus cells but not in hair follicles.
research Activator Protein-1 Activity Regulates Epithelial Tumor Cell Identity
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
research Activator Protein-1 Activity Regulates Epithelial Tumor Cell Identity
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
research Co-Expression Pattern of Artemis Serine 516 Phosphorylation with Indicators in Differentiation, Proliferation, and Apoptosis of Human Anagen Hair Follicles: An Immunofluorescence Double-Staining Study
Artemis protein may help control hair growth and health by influencing cell processes.
research Genome Scan for Signatures of Adaptive Evolution in Wild African Goat (Capra Nubiana)
Wild African goats have genetic adaptations for surviving harsh desert conditions.
research The Paradox of p53: What, How, and Why?
The p53 protein has complex, sometimes contradictory functions, including tumor suppression and promoting cell survival.
research Tailored Chromatin Modulation to Promote Tissue Regeneration
Understanding and manipulating epigenetic changes can potentially lead to human organ regeneration therapies, but more research is needed to improve these methods and minimize risks.
research Congenital Adrenal Hyperplasia: Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research Assessment of Vitamin D Receptors in Alopecia Areata and Androgenetic Alopecia
Low vitamin D receptor levels found in hair loss patients; topical vitamin D treatment suggested.
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 Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.