research A Homozygous Single T Deletion Found in the GGCX Gene with PXE-Like Phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
Search
for
Sort by
Research
30-60 / 1000+ results 
research Vitamin D Receptor-Mediated Control of Soggy, Wise, and Hairless Gene Expression in Keratinocytes
Vitamin D receptor helps control hair growth genes in skin cells.
research Hairless Down-Regulates Expression of Msx2 and Its Related Target Genes in Hair Follicles
Hairless protein reduces Msx2 gene activity, affecting hair follicle development.
research Molecular and Functional Aspects of the Hairless (Hr) Gene in Laboratory Rodents and Humans
The document discussed the hairless (hr) gene in laboratory rodents and humans, highlighting its role in skin physiology and hair follicle biology. Although hairless and rhino mouse mutants were extensively used to study skin-related topics, the primary cellular defect of hairlessness was often overlooked. The identification of the human homolog of the hr gene on Chromosome 8p12 linked it to a congenital hair disorder in humans, similar to hairless mice. Mutations in the hr gene in mice served as models for understanding its function and the pathophysiology of related human disorders. The document reviewed the structure, expression patterns, and mutations of the hr gene, as well as associated pathologies, reproductive and immunological defects, and susceptibility to dioxin toxicity. It speculated on the potential functions of the hr gene product in skin and hair follicle biology.
research Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis
Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
research Hairless Triggers Reactivation of Hair Growth by Promoting Wnt Signaling
The HR protein helps hair grow by blocking a hair growth inhibitor, aiding in hair follicle regeneration.
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 Interactions of the Vitamin D Receptor with the Corepressor Hairless
Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
research Congenital Hair Loss Disorders: Rare, But Not Too Rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research Morphological Approach to Hair Disorders
Accurate clinical, histological, and genetic methods are key for understanding and treating hair disorders.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Marie Unna Hereditary Hypotrichosis: A Turkish Family with Loss of Eyebrows and a U2HR Mutation
A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
research Hairless Up-Regulates TGF-β2 Expression via Down-Regulation of miR-31 in the Skin of Hairpoor (HrHp) Mice
HR protein causes abnormal hair cycles by increasing Tgf-β2 and reducing miR-31.
research Ligand-Independent Regulation of the Hairless Promoter by Vitamin D Receptor
Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
research Hairless Controls Hair Fate Decision via Wnt/β-Catenin Signaling
The Hairless gene is crucial for hair cell development, affecting whether skin cells become hair or skin and oil gland cells.
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Papular Atrichia: A Case Report of an 8-Year-Old Girl
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research Alopecia Totalis in an Infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research Hairless: A Nuclear Receptor Corepressor Essential for Skin Function
The Hairless gene is crucial for healthy skin and hair growth.
research Hairless and Wnt Signaling: Allies in Epithelial Stem Cell Differentiation
The HR protein's role as a repressor is essential for controlling hair growth.
research Quantification of the Vitamin D Receptor-Coregulator Interaction
Vitamin D receptor binds similarly to natural and synthetic ligands, affecting gene regulation.
research Insertional Mutation of the Hairless Locus on Mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
research Comparison of the Acute Ultraviolet Photoresponse in Congenic Albino Hairless C57BL/6J Mice Relative to Outbred SKH1 Hairless Mice
B6.Cg-Tyr c−2J Hr hr /J mice have a stronger delayed sunburn reaction and are good for UV research.
research Hairless Suppresses Vitamin D Receptor Transactivation in Human Keratinocytes
Hairless protein can block vitamin D activation in skin cells.
research Alopecia: Association with Resistance to Thyroid Hormones
A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
research Hairless Is a Nuclear Receptor Corepressor Essential for Skin Function
Hairless protein is crucial for healthy skin and hair, and its malfunction can cause hair loss.
research Vitamin D Receptor: Molecular Signaling and Actions of Nutritional Ligands in Disease Prevention
Vitamin D receptor interacts with certain dietary components to help prevent diseases and regulate hair growth.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
The study identified a novel missense mutation in the hairless (hr) gene, specifically a G to A transition at cDNA position 3034, resulting in a D1012N substitution, linked to congenital atrichia in a 17-year-old female with alopecia universalis congenita. This mutation was homozygous in the patient, heterozygous in her mother, and absent in her healthy sister, and was not found in 326 chromosomes from unrelated healthy individuals, indicating it was not a common polymorphism. The conserved nature of the D1012 residue across species suggested its functional importance, potentially disrupting the interaction between the hairless protein and the thyroid hormone receptor, contributing to hair loss. The study also noted a higher incidence of hr mutations in populations with high consanguinity rates and highlighted the variability in clinical presentation, as the patient did not exhibit some typical features of AUC. The research underscored the complexity of the hairless gene's role in hair loss disorders and the need for further studies to understand the variable phenotypic expressions of these mutations.