research Mice humanised for the EGF receptor display hypomorphic phenotypes in skin, bone and heart
Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
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research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease
Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
A new mutation in the Hairless gene causes hair loss in two Pakistani families.
research Author response: ETS family transcriptional regulators drive chromatin dynamics and malignancy in squamous cell carcinomas
ETS2 is crucial in squamous cell carcinoma development and could be a therapeutic target.
research 1323 Human dermal fibroblasts and mast cell populations are altered in hidradenitis suppurativa, with epithelial-mesenchymal-transition signals ameliorated by spleen tyrosine kinase antagonism.
Skin cells and immune cells change in a skin condition called hidradenitis suppurativa, and a certain treatment can improve these changes.
research Keratin Gene Expression in Wool Fibre Development
Only two of the four keratin genes are expressed in wool fibers.
research 1250 Development of an ex vivo human skin explant model to examine candidate gene functions in the hair follicle and epidermis
The model can effectively test gene functions and drug responses in human skin.
research Hair-Specific Keratins: Characterization and Expression of a Mouse Type I Keratin Gene
research A RARE CASE OF ISOLATED PULMONARY INVOLVEMENT IN LYMPHOID VARIANT HYPEREOSINOPHILIC SYNDROME
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Hypoxia inducible factor-1α promotes trichogenic gene expression in human dermal papilla cells
HIF-1α is important for hair growth and could be a treatment target for hair loss.
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.
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research 671 Impaired follicular Nrf2 signaling: Potential early therapeutic target in hidradenitis suppurativa
Targeting impaired Nrf2 signaling might help treat hidradenitis suppurativa early on.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Co-expression of PADI isoforms during progenitor differentiation enables functional diversity
Different PADI isoforms help cells develop diverse functions.
research Human KAP Genes, Only the Half of it? Extensive Size Polymorphisms in Hair Keratin-Associated Protein Genes
KAP genes show significant genetic variability, but its impact on hair traits is unclear.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Localization and Regulation of Expression of the FAR-17A Gene in the Hamster Flank Organs
research Epidermal and Hair Follicle Progenitor Cells Express Melanoma-Associated Chondroitin Sulfate Proteoglycan Core Protein
MCSP may help identify and regulate skin stem cells, affecting hair growth and regeneration.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research Polymorphisms in the Human High Sulfur Hair Keratin-associated Protein 1, KAP1, Gene Family
Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
research Hidradenitis Suppurativa and Comorbid Disorder Biomarkers, Druggable Genes, New Drugs and Drug Repurposing—A Molecular Meta-Analysis
The study found key factors in the cause of hidradenitis suppurativa, its link to other diseases, and identified existing drugs that could potentially treat it.
research Production of artificial synthetic spidroin gene 4S-transgenic cloned sheep embryos using somatic cell nuclear transfer
Transgenic sheep embryos with a specific promoter were successfully created, but more research is needed for gene expression in hair follicles.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research The malignant capacity of skin tumours induced by expression of a mutant H-ras transgene depends on the cell type targeted
The risk of skin tumors becoming malignant depends on the specific skin cell type affected.