0000000000799935

AUTHOR

Claudio J. Conti

showing 2 related works from this author

Oxidative stress and mitochondrial dysfunction in Kindler syndrome

2014

This is an Open Access article distributed under the terms of the Creative Commons Attribution License.-- et al.

Premature agingMaleKeratinocytesAdolescentComputingMilieux_LEGALASPECTSOFCOMPUTINGMitochondrionmedicine.disease_causePathogenesisKindler syndrome03 medical and health scienceschemistry.chemical_compound0302 clinical medicineBlistermedicineHumansGenetics(clinical)Pharmacology (medical)Photosensitivity DisordersGenodermatosisChildGenetics (clinical)Cells CulturedPeriodontal Diseases030304 developmental biologyAged 80 and overMedicine(all)0303 health sciencesintegumentary systemResearchGeneral MedicineGlutathioneMiddle Agedmedicine.diseaseMalondialdehydeMolecular biology3. Good healthMitochondriaOxidative StresschemistryOxidative stress030220 oncology & carcinogenesisChild PreschoolFemaleSkin cancerEpidermolysis BullosaKindlin1Oxidative stressOrphanet Journal of Rare Diseases
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Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene

2015

International audience; Here we describe a spontaneous mutation in the Zdhhc13 (zinc finger, DHHC domain containing 13) gene (also called Hip14l), one of 24 genes encoding palmitoyl acyltransferase (PAT) enzymes in the mouse. This mutation (Zdhhc13luc) was identified as a nonsense base substitution, which results in a premature stop codon that generates a truncated form of the ZDHHC13 protein, representing a potential loss-of-function allele. Homozygous Zdhhc13luc/Zdhhc13luc mice developed generalized hypotrichosis, associated with abnormal hair cycle, epidermal and sebaceous gland hyperplasia, hyperkeratosis, and increased epidermal thickness. Increased keratinocyte proliferation and accel…

KeratinocytesPathologySkin NeoplasmsMutantMESH: Codon TerminatorMESH: Epidermal Cellsmedicine.disease_causeBiochemistryMESH: Acyltransferases / genetics*MESH: Keratinocytes / physiologyMice0302 clinical medicineHair cycleMESH: AnimalsPalmitoyl acyltransferase0303 health sciencesintegumentary systemNF-kappa B3. Good healthPhenotypemedicine.anatomical_structureNeutrophil Infiltration030220 oncology & carcinogenesisCodon TerminatorKeratinocytemedicine.medical_specialtyClinical SciencesOncology and CarcinogenesisDermatologyBiologyMESH: PhenotypeMESH: Skin Neoplasms / etiologyArticleMESH: Skin Neoplasms / genetics*03 medical and health sciencesMESH: Genetic Predisposition to Disease*medicineAnimalsGenetic Predisposition to DiseaseTerminatorMESH: NF-kappa B / physiologyCodonMESH: MiceMolecular Biology030304 developmental biologyEpidermis (botany)Dermatology & Venereal DiseasesMESH: Leukocyte Elastase / metabolismCell BiologyMESH: Bromodeoxyuridine / metabolismNFKB1Molecular biologyMESH: Neutrophil Infiltration[SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal geneticsBromodeoxyuridineEpidermal CellsMutationNIH 3T3 CellsMESH: Mutation*Leukocyte ElastaseCarcinogenesisDHHC domainAcyltransferasesMESH: NIH 3T3 CellsJournal of Investigative Dermatology
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