research Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
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630-660 / 1000+ results research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research Frontiers in Topical Photoprotection
Sunscreen technology is improving with new ingredients and methods to better protect skin from sun damage.
research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
research Wwox Deficiency Causes Downregulation of Prosurvival ERK Signaling and Abnormal Homeostatic Responses in Mouse Skin
WWOX deficiency in mice causes skin and fat tissue problems due to disrupted cell survival signals.
research Analysis of Genetic Diversity and Construction of a Core Collection of Ginkgo biloba Germplasm Using EST-SSR Markers
Ginkgo biloba has high genetic diversity, useful for future breeding.
research Genetic Variants and Protective Immunity against SARS-CoV-2
Genetic differences affect how people respond to COVID-19.
research Orchestration of tissue‐scale mechanics and fate decisions by polarity signalling
Cell polarity signaling controls tissue mechanics and cell fate, with complex interactions and varying pathways across species.
research Nilotinib-induced generalized keratosis pilaris: Report of a rare case
Nilotinib can cause generalized keratosis pilaris.
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 Immunohistochemical, pharmacovigilance, and omics analyses reveal the involvement of ATP-sensitive K+ channel subunits in cancers: role in drug–disease interactions
ATP-sensitive K+ channel subunits, particularly Sur2A, play a significant role in various cancers.
research Identification of Candidate Genes for Min Pig Villi Hair Traits by Genome-Wide Association of Copy Number Variation
Researchers found genes that may explain why some pigs grow winter hair, which could help breed cold-resistant pigs.
research DNA dioxygenases Tet2/3 regulate gene promoter accessibility and chromatin topology in lineage-specific loci to control epithelial differentiation
The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
research Capsaicin: an in-depth review of its chemical properties, health benefits, and challenges in food applications
Capsaicin offers health benefits and flavor but faces challenges in food use.
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 Skin Sceneries of Thyroid Disorders and Impact of Thyroid on Different Skin Diseases: A Scoping Review Focused on Pediatric Patients
Thyroid disorders can cause skin issues in children, so early detection and screening are important.
research De novo filament formation by human hair keratins K85 and K35 follows a filament development pattern distinct from cytokeratin filament networks
Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.
research Understanding sex and gender disparities in COVID-19 mortality: a narrative review beyond biology
Gender and social factors, not just biology, affect COVID-19 death rates.
research Association between DNA Methylation in the Core Promoter Region of the CUT-like Homeobox 1 (CUX1) Gene and Lambskin Pattern in Hu Sheep
DNA methylation likely doesn't cause different lambskin patterns in Hu sheep.
research Beard Alopecia: An Updated and Comprehensive Review of Etiologies, Presentation and Treatment
Different causes of beard hair loss have various treatments, including medications, lifestyle changes, and procedures to stimulate hair growth.
research Genome-wide DNA methylation and transcriptome analyses reveal the key gene for wool type variation in sheep
The SOSTDC1 gene is crucial for determining sheep wool type.
research Regulation of feather follicle development and Msx2 gene SNP degradation in Hungarian white goose
The Msx2 gene affects feather development in Hungarian white geese and a specific gene variation could indicate feather quality.
research Annual Convention in the Time of COVID
The convention discussed various skin conditions and treatments, and highlighted the importance of vaccinations for patients on immune-altering medications.
research The effect of GGC and CAG repeat polymorphisms on the androgen receptor gene in response to finasteride therapy in men with androgenetic alopecia
Fewer GGC sequences in the androgen receptor gene improve finasteride treatment for hair loss.
research H3K9me3 controls epidermis morphogenesis by regulating RNA Pol II dynamics at developmental promoters and enhancers
H3K9me3 is crucial for proper skin development and structure.
research Clinico-epidemiology of Keratosis Pilaris with Histopathologic and Dermoscopic Evaluation – A Cross-sectional Study in a Rural Tertiary Hospital
Keratosis pilaris significantly affects quality of life and shows specific skin changes.
research Dercum Disease: Exploratory Therapeutic Approaches in the Absence of Standardized Medical Treatment—A Single Center Case Series
Individualized treatments may help manage Dercum's disease symptoms.
research Predicting Physical Appearance from Low Template: State of the Art and Future Perspectives
Machine learning improves DNA predictions for eye and hair color, but challenges remain for skin tone and facial features.
research Biomedical Technologies for Androgenic Alopecia Treatment: Advance, Mechanism and Future Direction
New technologies show promise for safer, more effective hair loss treatments.
research Stem Cell Secretome for Skincare: Of Cell Types, Exosomes, Extracellular Vesicles, and Soluble Fractions
Adipose mesenchymal stem cells are best for skincare because they reduce inflammation and are safe and effective.