research An observational analysis of erythromelanosis follicularis faciei et colli
EFFC might be common but underreported.
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540-570 / 1000+ resultsresearch New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Trichothiodystrophy: Current Concepts
TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
research A Definitive Role of Ornithine Decarboxylase in Photocarcinogenesis
Inhibiting ODC can prevent UV-induced skin cancer.
research CPC12 Coinheritance of BRCA2 and CYLD germline pathogenic variants associated with targetable metastatic malignant cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
research Skin abnormalities generated by temporally controlled RXRα mutations in mouse epidermis
RXRα is crucial for hair growth and skin cell function.
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 Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
research iTRAQ-based proteome profiling revealed the role of Phytochrome A in regulating primary metabolism in tomato seedling
Phytochrome A is crucial for normal metabolism and development in tomato seedlings under far-red light.
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 Spheroid transplantable and functional retinal pigment epithelium derived from non-colony dissociated human induced pluripotent stem cells
Human stem cells can turn into functional eye cells that might help treat retinal diseases.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Cronkhite–Canada Syndrome Diagnosis in the Absence of Gastrointestinal Polyps
Cronkhite-Canada syndrome can be diagnosed without gastrointestinal polyps if there is severe mucosal atrophy and edema.
research Specific receptor detection by a functional keratinocyte growth factor-immunoglobulin chimera.
A new protein was made to detect specific skin cell growth receptors and worked in normal skin but not in skin cancer cells.
research 519 Design of a new molecule proven to be safe and effective for topical depigmenting and antiaging method
A new molecule was found to be a safe and effective skin lightener and anti-aging product.
research A Dispute Between the Cavendish and Caltech: The Emergence and Ubiquity of the α-Helix
The alpha-helix was confirmed as a key structure in proteins.
research Abstract 1489: Basal cell carcinomas express functional indoleamine 2,3-dioxygenase (IDO) which may confer immunoprotection
Basal cell carcinomas may use IDO to protect themselves from the immune system.
research Data from Ribonucleotide Excision Repair Is Essential to Prevent Squamous Cell Carcinoma of the Skin
Ribonucleotide excision repair is crucial to prevent skin cancer.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Isolation and Characterization of Human Repetin, a Member of the Fused Gene Family of the Epidermal Differentiation Complex
Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
research Central Centrifugal Cicatricial Alopecia in the Adolescent Population: An Overview of Available Literature
CCCA affects adolescents too, with genetic and environmental links, requiring careful diagnosis.
research MOF-mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions By Controlling Gene Promoters
MOF controls skin development by regulating genes for mitochondria and cilia.
research Manipulation of stem cell proliferation and lineage commitment:visualisation of label-retaining cells in wholemounts of mouse epidermis
Stem cell behavior varies with stimuli, and lineage changes can happen without affecting stem cell division.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Polarized microscopy in genetic hair disorders: case series
Polarized microscopy helps identify hair irregularities in genetic disorders.
research Central centrifugal cicatricial alopecia
CCCA is a common, progressive hair loss condition that may not always be linked to hair care practices and requires a biopsy for diagnosis.
research Localisation and regulation of cholesterol transporters in the human hair follicle: mapping changes across the hair cycle
Cholesterol transport in hair follicles decreases from growth to regression phase.
research Data from Spontaneous Squamous Cell Carcinoma Induced by the Somatic Inactivation of <i>Retinoblastoma</i> and <i>Trp53</i> Tumor Suppressors
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.