research Hoxc13 polyglycine repeat gain-of-function drives mammalian integument evolution by altering targeted genes and interactions
The polyG fragment in Hoxc13 protein helps evolve mammalian skin and hair by enhancing gene interactions.
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research The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Hypoxia in Cell Reprogramming and the Epigenetic Regulations
Hypoxia and epigenetics are crucial for cell growth and tissue regeneration.
research Constitutive activation of S tat3 in mouse epidermis is linked to hair deficiency and cytoskeletal network damage
Overactive Stat3 in mouse skin causes hair loss and cell structure damage.
research The Aromatase Inhibitor Fadrozole and the 5-Reductase Inhibitor Finasteride Affect Gonadal Differentiation and Gene Expression in the Frog Silurana tropicalis
Fadrozole and Finasteride change frog sex ratios and cause intersex animals with altered gene expressions.
research egfl6 expression in the pharyngeal pouch is dispensable for craniofacial development
Egfl6 is not needed for zebrafish face development.
research Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems
Genetic screening can help diagnose and manage infertility in Slovenian couples.
research Gene Editing Technologies in Aesthetic Dermatology—Mechanisms, Emerging Applications, and Patient Safety Paradigms
Gene editing holds promise for skin treatments but needs careful safety and ethical consideration.
research Tfap2b specifies an embryonic melanocyte stem cell that retains adult multi-fate potential
The gene Tfap2b is essential for creating a type of stem cell in zebrafish that can become different pigment cells.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Distinct transcriptomic landscapes of cutaneous basal cell carcinomas and squamous cell carcinomas
Human basal cell carcinomas and squamous cell carcinomas have unique gene expression patterns not fully mirrored in mouse models.
research Abstract 12: LGR6+ Epithelial Stem Cell Augmentation of Fracture Healing
LGR6+ stem cells may improve bone healing.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Knockout of the ING5 epigenetic regulator confirms roles in stem cell maintenance and tumor suppression in vivo
ING5 is crucial for stem cell maintenance and preventing certain cancers.
research Author response: The signaling lipid sphingosine 1-phosphate regulates mechanical pain
Sphingosine 1-phosphate and its receptor S1PR3 are key in controlling mechanical pain.
research Computational derivation of a molecular framework for hair follicle biology from disease genes
The research provides a gene-based framework for hair biology, highlighting the Hippo pathway's importance and suggesting links between hair disorders, cancer pathways, and the immune system.
research Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
Certain genetic variants in keratins increase the risk of tooth decay.
research Integrated analysis of long non-coding RNA and mRNA expression in different colored skin of koi carp
lncRNAs significantly influence koi carp skin color.
research Differential Gene Expression Screening Between Black and Gray Hairs Using Subtractive Library and DNA Chip
Black hairs have more pigment-related genes, while gray hairs have more keratin-related genes.
research Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 2111In fond memory of Dr Peter Steinert.
A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
research Fibroblast growth factor 21 is differentially expressed in flank skin and regulates the proliferation of hair follicles in yak
research The transcriptional landscape of seasonal coat colour moult in the snowshoe hare
Researchers found genes that control hair color and growth change before the visible coat color changes in snowshoe hares.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Clinical Snippets
New treatments for hair growth and psoriasis may be possible, and gene differences could affect baldness and the severity of skin conditions.
research Heterogeneity of ornithine decarboxylase expression in 12-O-tetradecanoylphorbol-13-acetate-treated mouse skin and in epidermal tumors
ODC expression in mouse skin and tumors is varied and can be inhibited by retinoic acid or cycloheximide.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research Role of Notch signaling in cell fate determination of dental epithelial stem/progenitor cells
research Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy
Cinacalcet may help treat hereditary vitamin D resistant rickets safely.
research Divergent neuroactive steroid responses to stress and ethanol in rat and mouse strains: relevance for human studies
Different rat and mouse strains respond differently to stress and alcohol, which may help us understand similar human mechanisms.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.