research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
Search
for
Sort by
Research
450-480 / 1000+ results 
research Psoriasis y alopecia areata con traquioniquia concurrente en una paciente pediátrica con síndrome de Turner
A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
research Description of clinical aspects and microscopy of the hair shaft of a carrier of familial monilethrix
Monilethrix causes brittle hair and hair loss, and it runs in families.
research 4 Vitamin D resistance
Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
research High throughput T cell receptor sequencing identifies clonally expanded CD8+ T cell populations in Alopecia Areata
Expanded CD8+ T cells are linked to Alopecia Areata and may cause relapse after treatment.
research Acquired pili torti--a structural hair shaft defect in anorexia nervosa.
Anorexia nervosa may cause a hair defect called pili torti due to malnutrition and high vitamin A levels.
research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
research Multiomic Characterization of Treatment Response to JAK Inhibition in Patients with APECED
Ruxolitinib reduced inflammation and improved symptoms in APECED patients but may cause anemia and weight gain.
research Non-nutritional rickets: Approach, precision medicine, and outcomes
Early diagnosis and tailored treatment improve outcomes for non-nutritional rickets.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
research Myodegeneration in EDA-A2 Transgenic Mice Is Prevented by XEDAR Deficiency
XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
research Multiplex matrix network analysis of protein complexes in the human TCR signalosome
Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
research 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation
Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
research The human keratins: biology and pathology
Keratins are crucial for cell stability, wound healing, and cancer diagnosis.
research Critical Analysis on Characterization, Systemic Effect, and Therapeutic Potential of Beta-Sitosterol: A Plant-Derived Orphan Phytosterol
Beta-sitosterol has potential health benefits but needs more research to fully understand its effects and improve its use in treatments.
research An Ecologic Study of Disparities in COVID-19 Incidence and Case Fatality in Oakland County, MI, USA, During a State-Mandated Shutdown
COVID-19 affected Black communities more in Oakland County, MI, but didn't increase death rates.
research Engineering Cell‐Derived Matrices: From 3D Models to Advanced Personalized Therapies
3D cell-derived matrices improve tissue regeneration and disease modeling.
research A Fibrous Hybrid Patch Couples Cell-Derived Matrix and Poly(l -lactide-co-caprolactone) for Endothelial Cells Delivery and Skin Wound Repair
The new patch made of cell matrix and a polymer improves wound healing and supports blood vessel growth.
research Modulation of macrophage functions by ECM-inspired wound dressings – a promising therapeutic approach for chronic wounds
ECM-inspired wound dressings can help heal chronic wounds by controlling macrophage activity.
research Alopecia and Hair Damage Induced by Oncological Therapy
Cancer treatments often cause hair loss and damage, affecting patients' mental health.
research A Critical Evaluation of Evaluations for Long-form Question Answering
Current automatic metrics for long-form question answering don't align with human preferences; a multi-faceted evaluation approach is needed.
research Retrospective evaluation of Penguin Cold Caps for chemotherapy-induced alopecia
Penguin Cold Caps help most patients keep at least half their hair during chemotherapy.
research To study the prevalence of cutaneous manifestationsin newborns and its correlation with defined maternal and neonatal factors
Newborn skin conditions like Epstein pearls and Mongolian spots are common and influenced by race, environment, and hormones.
research Knowledge, Attitude and Perceptions of the population towards Vitamin D in Jeddah, Saudi Arabia
People in Jeddah know about Vitamin D and its sources but are unclear on how much they need daily, and while many women take supplements, attitudes towards increasing Vitamin D levels vary.
research Scalp cooling therapy for chemotherapy-induced hair loss in Asian patients with breast or gynecological cancers – a tertiary institution experience
Scalp cooling therapy helps preserve hair during chemotherapy for most patients.