research Skin Development and Disease: A Molecular Perspective
Understanding molecular processes in skin development is key to creating targeted treatments for skin disorders.
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360-390 / 1000+ resultsresearch Genomic Inbreeding and Runs of Homozygosity Analysis of Cashmere Goat
Inner Mongolia cashmere goats have the lowest inbreeding, aiding future breeding and conservation.
research Emerging roles of Sox6 in the renal and cardiovascular system
Sox6 is important in heart and kidney health, affecting diseases like diabetes, heart disease, and high blood pressure.
research Murine Epidermal Ceramide Synthase 4 Is a Key Regulator of Skin Barrier Homeostasis
Ceramide Synthase 4 is crucial for healthy skin barrier function.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research Cell death in skin function, inflammation, and disease
Different types of cell death affect skin health and inflammation, and understanding them could improve treatments for skin diseases.
research Genetics of Wool and Cashmere Fibre: Progress, Challenges, and Future Research
More research is needed to improve wool and cashmere quality through genetics.
research The Search for the Causes of Common Hyperandrogenism, 1965 to Circa 2015
Significant progress was made in understanding androgen excess disorders, but much is still unknown.
research Eavesdropping on the conversation between immune cells and the skin epithelium
Immune cells help keep skin healthy and repair it, but imbalance can cause disease.
research Sex hormones in SARS-CoV-2 susceptibility: key players or confounders?
Sex hormones' effects on COVID-19 are unclear and more research is needed to understand their potential as treatment.
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.
research Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
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 Testing the impact of trait prevalence priors in Bayesian-based genetic prediction modeling of human appearance traits
Using trait prevalence priors in genetic prediction models for appearance traits is currently impractical due to limited knowledge and potential accuracy issues.
research Forensic skeletal and molecular anthropology face to face: Combining expertise for identification of human remains
Combining skeletal and molecular anthropology improves identifying human remains.
research Sphingolipid metabolism orchestrates establishment of the hair follicle stem cell compartment
Ceramide Synthase 4 is crucial for maintaining hair follicle stem cells and preventing hair loss.
research Forensic DNA phenotyping: a review on SNP panels, genotyping techniques, and prediction models
Forensic DNA phenotyping faces challenges like inconsistent terms and limited genetic knowledge.
research Zinc and Zinc Transporters in Dermatology
Zinc is crucial for skin health and treating various skin disorders.
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 High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research Diseases of Hair
research Systematic investigation of a potential epidemiological and genetic association between male androgenetic alopecia and COVID‐19
No significant link between male pattern baldness and COVID-19 severity was found.
research Familial Frontal Fibrosing Alopecia
Familial frontal fibrosing alopecia is rare, mostly affects women, and often occurs between sisters or mother-daughter pairs.
research Polygenic risk score predicting susceptibility and outcome of benign prostatic hyperplasia in the Han Chinese
Polygenic risk scores can predict the risk and outcomes of benign prostatic hyperplasia.
research Genome-Wide Association Study of Fiber Diameter in Alpacas
Certain DNA regions in alpacas are linked to fiber diameter.
research Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Hormonal and Genetic Etiology of Male Androgenetic Alopecia
research Diseases of Hair
research Synopsis: 2005 Annual Meeting of the American Society of Andrology
The meeting highlighted promising genetic treatments for male fertility issues but noted concerns about certain cancer risks and ICSI safety.