research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
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research Disrupted Ectodermal Organ Morphogenesis in Mice with a Conditional Histone Deacetylase 1, 2 Deletion in the Epidermis
Mice without certain skin proteins had abnormal skin and hair development.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
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 Identifying causal genes in alopecia areata using integrative analysis of differential expression and Mendelian randomization
Four genes are linked to alopecia areata, with two increasing risk and two offering protection.
research Inducible expression of gasdermin A3 in the epidermis causes epidermal hyperplasia and skin inflammation
Gasdermin A3 overexpression in skin causes inflammation and hair loss.
research Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
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 Emergence of hereditary hyperplastic gingivitis in Newfoundland and Labrador, Canada: an exploration into the molecular aetiology at both the gene and genome levels
Hereditary hyperplastic gingivitis in silver foxes may be linked to errors in the MAPK signaling pathway, influenced by androgens.
research Suprabasal Desmoglein 3 Expression in the Epidermis of Transgenic Mice Results in Hyperproliferation and Abnormal Differentiation
Overexpressing Dsg3 in mice skin causes excessive cell growth and abnormal skin development.
research Targeted expression of spermidine/spermine N1-acetyltransferase increases susceptibility to chemically induced skin carcinogenesis
Increasing SSAT makes skin more prone to cancer.
research A family of type I keratin genes and the homeobox-2 gene complex are closely linked to the rex locus on mouse chromosome 11
Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
research Clinical Snippets
New findings suggest potential treatments for melanoma, hyperpigmentation, hair defects, and multiple sclerosis, and show skin microbiome changes don't cause atopic dermatitis.
research Matrix-Degrading Type II Transmembrane Serine Protease Matriptase: Its Role in Cancer Development and Malignancy
Matriptase imbalance contributes to cancer development and spread.
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Matriptase: Potent Proteolysis on the Cell Surface
Matriptase is crucial for skin, hair, and immune cell health, and its imbalance can lead to cancer.
research 0748 Synergy of TP53 and non-canonical sonic hedgehog pathway in the development of complex basal cell carcinoma
Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Merkel cell polyomavirus infection and persistence modelled in skin organoids
Merkel cell polyomavirus can infect and persist in skin cells, evading the immune system, but certain treatments can control it.
research PRC 2 preserves intestinal progenitors and restricts secretory lineage commitment
PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.
research Follicular mucinosis associated with pregnancy
Pregnancy can trigger follicular mucinosis, which may resolve after delivery.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis
Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
research Linking chromatin dynamics, cell fate plasticity, and tissue homeostasis in adult mouse hair follicle stem cells
Mouse hair follicle stem cells have a flexible chromatin state that supports skin health and hair growth.
research Skin tumors with matrical differentiation: lessons from hair keratins, beta‐catenin and PHLDA ‐1 expression
Matrical tumors share a common growth mechanism involving the Wnt pathway and consistent PHLDA1 expression.
research Spectrum of Phenotypes Associated with Human MC1R Variations
MC1R gene variations affect skin, hair color, UV sensitivity, and melanoma risk.
research Alopecia areata after mogamulizumab treatment
Mogamulizumab can cause hair loss and skin rashes.
research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.