research The impact of VDR expression and regulation in vivo
VDR regulation varies by tissue and is crucial for its biological functions.
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420-450 / 1000+ resultsresearch Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Merkel cell carcinoma: updates in tumor biology, emerging therapies, and preclinical models
New therapies and trials are needed for Merkel cell carcinoma, a tough skin cancer.
research Development of Heritable Melanoma in Transgenic Mice
The transgene likely activated an oncogene or interrupted a tumor suppressor gene, causing melanoma in mice.
research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Keratins and skin disease
Keratin mutations cause skin diseases and could lead to new treatments.
research Preparation of Fucoidan-Based Electrospun Nanofibers and Their Interaction With Endothelial Cells
The nanofibers improved cell adhesion and could be used for tissue-engineered blood vessels.
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 Extracellular vesicles in age-related diseases: disease pathogenesis, intervention, and biomarker
Extracellular vesicles can both worsen and help treat age-related diseases and are useful for early diagnosis.
research A Short Report on Melanocyte/Melanoma Culture, Senescence, and Reproducibility
Clear documentation and shared best practices are essential for improving research consistency in pigment cells.
research Past, Present and Future Perspectives of Forensic Genetics
Forensic genetics can now predict physical traits and lifestyle habits, with future advancements expected from new technologies.
research Targeted Inactivation of Gh/Tissue Transglutaminase II
Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.
research Analyses of histological and transcriptome differences in the skin of short-hair and long-hair rabbits
Hair length in rabbits is linked to differences in lipid metabolism and cell death.
research Regionalisation of the skin
Skin varies in thickness, color, and features due to complex genetic and cellular processes.
research Weathering the Storm: Harnessing the Resolution of Inflammation to Limit COVID-19 Pathogenesis
Reprogramming macrophages to resolve inflammation can help reduce severe COVID-19 complications.
research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
research PolyQ length co-evolution in neural proteins
PolyQ repeats in neural proteins evolve together, affecting brain function and disease.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review
Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
research Thymic epithelial cells : relatives of multipotent stem cells of the skin
Thymic epithelial cells may be related to skin stem cells.
research Characterisation, genomic organisation, expression and function of the mEphA1 receptor Tyrosine Kinase
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.
research Imaging to study solid tumour origin and progression: lessons from research and clinical oncology
Biomedical imaging has greatly improved understanding and treatment of solid tumors.
research Differential cold stress intensities drive unique morphological and transcriptomic changes in Zea mays root hairs
Maize root hairs adapt differently to mild and severe cold, with mild stress allowing some growth and severe stress stopping growth to focus on defense.
research Role of Extracellular Vesicles as Mediators of Cell Communication and Novel Biomarkers in Sepsis
Small extracellular vesicles can help diagnose and manage sepsis.
research Decision letter: Involvement of ILC1-like innate lymphocytes in human autoimmunity, lessons from alopecia areata
ILC1-like cells may contribute to hair loss in alopecia areata and could be new treatment targets.
research Transcriptomic analyses of regenerating adult feathers in chicken
Chicken feather growth involves specific genes and shares similarities with hair development.
research Drug Repurposing for Rare Diseases
Drug repurposing offers a faster, cheaper way to find treatments for rare diseases.
research Is the Loose Anagen Hair Syndrome a Keratin Disorder?
Loose anagen hair syndrome may be caused by keratin gene mutations.
research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.