research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
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210-240 / 1000+ results research Progeroide Syndrome
Genetic mutations affecting DNA repair cause early aging symptoms in progeroid syndromes.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research 458 UVB-induced facultative pigmentation is associated with distinct DNA methylation changes
Tanning ability is linked to specific DNA changes in skin genes.
research Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases
PADs are crucial for healthy skin and hair, and their imbalance can cause skin and hair disorders.
research P5 Assembly of hair keratins in thansfected cultured cells
research Clinical Significance of Dense Fine Speckled Pattern in Anti-nuclear Antibody Test using Indirect Immunofluorescence Method
The dense fine speckled pattern in ANA tests is common in autoimmune diseases, challenging previous beliefs that it was unrelated.
research Porphyria Cutanea Tarda in a Patient With Agnogenic Myeloid Metaplasia
Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
research The Editor's Choice
UV radiation may cause DNA changes in skin, certain UVB therapy helps psoriasis, a new gene mutation is linked to mild piebaldism, different immune cells affect psoriasis, a drug promotes hair growth, and some cancer drugs could treat skin barrier issues.
research 189 Integrating single-cell and spatial transcriptomics of human hair follicles to define transcriptional signature of follicular dermal papilla
The research identified specific genes that are active in the cells crucial for hair growth.
research Familial and Sporadic Porphyria Cutanea Tarda
Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
research Planar Proton Minibeam Irradiation Elicits Spatially Confined DNA Damage in a Human Epidermis Model
Proton minibeam radiotherapy may reduce skin side effects by causing localized DNA damage.
research The Current Art Combination of Platelet-Rich Plasma and Poly-D,L-Lactic Acid For Improvement of Deep Nasolabial Folds: A Case Report
Combining PDLLA and PRP effectively reduces wrinkles and improves skin quality.
research A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
Pachyonychia congenita is linked to a keratin gene on chromosome 17.
research Lessons From Epcot and Orlando 2014
The document concluded with a call for article submissions for the 2014 Writing Awards.
research Human Placenta Extract (HPH) Suppresses Inflammatory Responses in TNF-α/IFN-γ-Stimulated HaCaT Cells and a DNCB Atopic Dermatitis (AD)-Like Mouse Model
Human placenta extract reduces inflammation and symptoms in atopic dermatitis.
research Isolation and Molecular Cloning of Epidermal- and Hair Follicle-Specific Peptidylarginine Deiminase (Type III) from Rat
PAD type III enzyme is specific to rat skin and hair follicles.
research 0040 Machine learning algorithms as tools for identifying predictive autoantibody biomarkers in pemphigus vulgaris
Machine learning can help identify biomarkers for personalized Pemphigus vulgaris treatment.
research LB1601 Dermatomyositis-related panniculitis of the neck
A woman with dermatomyositis improved after treatment for neck panniculitis, suggesting similar treatment for related conditions.
research A Transition State Analogue of 5′-Methylthioadenosine Phosphorylase Induces Apoptosis in Head and Neck Cancers
MT-DADMe-ImmA can selectively kill head and neck cancer cells without harming normal cells.
research Psoriasis is characterized by deficient negative immune regulation compared to transient delayed-type hypersensitivity reactions
Psoriasis may be chronic because it lacks certain immune system controls that prevent overreaction.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research Advances in Digital Light Processing (DLP) Bioprinting: A Review of Biomaterials and Its Applications, Innovations, Challenges, and Future Perspectives
DLP bioprinting shows promise for medical uses, but needs more material options and strength improvements.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Forensic DNA phenotyping: A promising tool to predict human appearance for forensic purposes
Forensic DNA phenotyping can predict physical traits from DNA but faces challenges in knowledge and ethics.
research An in-depth study of DOPE:DOPC liposomes to maximize targeted drug delivery to cancer-associated cells
DOPE:DOPC liposomes can improve targeted cancer drug delivery, reducing side effects and increasing effectiveness.
research Contributions of peroxisome proliferator-activated receptor β/δ to skin health and disease
PPAR β/δ is important for skin health and disease treatment, but more research is needed.
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 Localized Primary Cutaneous Nodular Amyloidosis in a Patient With Paraproteinemia
An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.
research Tritiated Thymidine: Effect of Decomposition by Self-Radiolysis on Specificity as a Tracer for DNA Synthesis
Decomposed tritiated thymidine is less accurate for DNA tracing, and hair changes can indicate malnutrition.