research News in brief
Scientists found key proteins and genes that affect skin and hair health, and identified potential new treatments for hair loss, skin disorders, and wound healing.
Search
for
Sort by
Research
300-330 / 1000+ results research One Transgene: Two Outcomes
This study found that in a transgenic mouse model, a modified form of β-catenin inhibited normal hair follicle development and promoted epidermal cyst formation, revealing distinct effects on Wnt signaling.
research Myodegeneration in EDA-A2 Transgenic Mice Is Prevented by XEDAR Deficiency
In this study, EDA-A2 transgenic mice exhibited multifocal myodegeneration dependent on XEDAR, suggesting a potential role for XEDAR in skeletal muscle homeostasis.
research Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
This review discusses the role of RDH12 in vision, its structural and functional aspects, and related disease mechanisms, but reports no new clinical results; it aims to support therapy development for inherited retinal dystrophies.
research Identification of the cell lineage at the origin of basal cell carcinoma
Basal cell carcinoma mostly starts from cells in the upper skin layers, not hair follicle stem cells.
research Human Teeth Is Useful Even after Its SHED! So, Why Discard It?
This chapter reviews the potential of stem cells from discarded deciduous teeth in regenerative medicine and dentistry, with no new clinical results presented.
research Wnt/β-catenin signalling: function, biological mechanisms, and therapeutic opportunities
This study systematically reviews the Wnt/β-catenin signaling pathway, discussing its origin, composition, function, involvement in tumors and diseases, and the development of small-molecular compounds targeting this pathway for disease treatment.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
This study characterized hair from a patient with a ribosomopathy and identified distinct differences, including reduced hair thickness and lipid content, compared to family members.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
In this case report, a three-generation family with Gorlin-Goltz syndrome showed a heterozygous PTCH1 splice-donor variant associated with the disease, and two affected relatives benefited from individualized, side-effect-guided dosing of the drug sonidegib, experiencing regression of basal cell carcinoma lesions.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.
research Cutaneous malignant melanoma incidences analyzed worldwide by skin type over advancing age of males and females: Evidence estrogen and androgenic hair are risk factors
In this study, only European-ancestry females showed a linear increase in cutaneous malignant melanoma risk with age, potentially due to the loss of HPV-infected androgenic follicles after menopause.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
research Novel type 1 5a-reductase Inhibitors with Antiproliferative Potential on LNCaP cells
This study demonstrated that derivatives of dehydroepiandrosterone (2a-b, 3a-f, and 4a-f) significantly reduced viable LNCaP prostate cancer cells, suggesting potential therapeutic use for metastatic prostate cancer, while finasteride did not alter cell viability.
research Cell-Type-Specific Chromatin States Differentially Prime Squamous Cell Carcinoma Tumor-Initiating Cells for Epithelial to Mesenchymal Transition
This study found that squamous cell carcinomas from hair follicle stem cells are more prone to epithelial to mesenchymal transition and metastasis than those from interfollicular epidermis, due to distinct chromatin landscapes.
research A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
This article discusses various dermatological studies cited by previous authors and reports no new clinical results.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation
In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.
research Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia
This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
research Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.
research Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes
This study discovered nine human type I hair keratin genes, including a transcribed pseudogene, in a 190 kbp genomic region, revealing three gene subclusters based on sequence homologies.
research Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.
research Insertional mutation of the hairless locus on mouse Chromosome 14
This study reports that transgene insertion in homozygous transgenic mice causes irreversible hair loss and impaired immune function, linked to interruption of the hairless locus on Chromosome 14.
research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.
research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
In this study, researchers identified a novel homozygous variant in the FAM83G gene responsible for autosomal recessively inherited palmoplantar keratoderma with curly hair in a consanguineous Pakistani family, suggesting FAM83G plays a crucial role in skin and hair homeostasis.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.
research Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene
This study reported that heterozygous carriers of a mutation in the human hairless gene did not differ from healthy homozygotes in the pattern of androgenetic alopecia.
research Gap junctions in Turing-type periodic feather pattern formation
This study on feather pattern formation in chicken skin found that inhibiting gap junctional intercellular communication can lead to the emergence of new feather buds in specific spatial patterns, suggesting that GJIC may facilitate Turing-type periodic patterning by propagating inhibitory signals over long distances.
research Proteomic analysis identifies differentially expressed proteins participating in forming Type III brush hair in Yangtze River Delta white goat
This study identified four proteins that differ between Type III and non-Type III hair in Yangtze River Delta white goats, contributing to understanding the development of high-quality brush hair.
research Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene
In this study, researchers found that heterozygous carriers of a mutation in the hairless gene showed no difference in the pattern of androgenetic alopecia compared to unaffected individuals.
research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
This case report describes a 27-year-old male with autoimmune polyglandular syndrome type 1, characterized by symptoms including fever, dysarthria, dysphagia, oral candidiasis, nail dystrophy, alopecia, hypoparathyroidism, and dilated cardiomyopathy. The study highlights unique bilateral symmetrical brain calcifications and underscores the syndrome’s diverse manifestations.