research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
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630-660 / 1000+ resultsresearch The HOXC13-controlled expression of early hair keratin genes in the human hair follicle does not involve TALE proteins MEIS and PREP as cofactors
research The TIP GROWTH DEFECTIVE1 S-Acyl Transferase Regulates Plant Cell Growth in Arabidopsis
The TIP1 gene is crucial for normal plant cell growth in Arabidopsis.
research STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
research Dissection of a Complex Enhancer Element: Maintenance of Keratinocyte Specificity but Loss of Differentiation Specificity
Keratinocyte gene expression is controlled by multiple modules with specific binding sites.
research The Proximal Promoter of the Human Transglutaminase 3 Gene
The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Terrestrial vertebrates have two keratin gene clusters; striking differences in teleost fish
Terrestrial vertebrates have balanced keratin gene clusters, unlike teleost fish.
research Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
research Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases
research Hox genes in development and beyond
Hox genes are crucial for development and tissue maintenance, affecting structures and functions throughout life.
research Differential Expression of Genes Encoding a Cysteine-Rich Keratin Family in the Hair Cuticle
research Piecing together the pigment-type switching puzzle
The document concludes that MGRN1 affects mouse fur color by interfering with a receptor's signaling, but its full role in the body is still unknown.
research Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation
Desmocollin 1 is essential for strong skin and proper skin function.
research Chromosomal Localization of Mouse Hair Keratin Genesa
Most mouse hair keratin genes are on chromosomes 11 and 15.
research Topobiology of Human Pigmentation: P-Cadherin Selectively Stimulates Hair Follicle Melanogenesis
P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
research TCL1 transgenic mouse model as a tool for the study of therapeutic targets and microenvironment in human B-cell chronic lymphocytic leukemia
The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
research CRABP1 Enhances the Proliferation of the Dermal Papilla Cells of Hu Sheep through the Wnt/β-catenin Pathway
CRABP1 boosts hair cell growth in Hu sheep by affecting key genes.
research Deletion of the Sox21 gene drastically affects hair lipids
Deleting the Sox21 gene changes hair lipid composition and increases cholesterol sulfate levels.
research Inducible deletion of Dicer or Drosha reveals multiple functions for miRNAs in postnatal epidermis and hair follicles
miRNAs are crucial for hair growth and skin health.
research Vitamin D Receptor: New Assignments for an Already Busy Receptor
The vitamin D receptor is involved in multiple body functions beyond calcium regulation, including immune response and rapid reactions not related to gene activity.
research The ITGB6 gene: its role in experimental and clinical biology
The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
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 Regulatory role of LEF-1 in the proliferation of Arbas White Cashmere goat dermal papilla cells
LEF-1 boosts cell growth in goat hair follicles, aiding cashmere production.
research Quantification of the Vitamin D Receptor−Coregulator Interaction
Vitamin D receptor binds similarly to natural and synthetic ligands, affecting gene regulation.
research ADAM17 variant causes hair loss via ubiquitin ligase TRIM47 mediated degradation
A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
research Development and progression of alopecia in the vitamin D receptor null mouse
Mice without the vitamin D receptor gene lose hair due to disrupted hair follicle cycles.
research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research Identification of Candidate Genes for Min Pig Villi Hair Traits by Genome-Wide Association of Copy Number Variation
Researchers found genes that may explain why some pigs grow winter hair, which could help breed cold-resistant pigs.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.