research Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
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210-240 / 1000+ resultsresearch A review of genotrichoses and hair pathology associated with inherited skin diseases
Next-generation sequencing greatly improves understanding and treatment of genetic hair disorders.
research Myotonic Dystrophy—A Progeroid Disease?
Myotonic dystrophy may be classified as a segmental progeroid disorder.
research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
research Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research Pleiotropic Role of Notch Signaling in Human Skin Diseases
Notch signaling disruptions can cause various skin diseases.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research A Ca 2+ /calmodulin-dependent protein kinase required for symbiotic nodule development: Gene identification by transcript-based cloning
The DMI3 gene is essential for nodule development and symbiosis in certain plants.
research Hairless Suppresses Vitamin D Receptor Transactivation in Human Keratinocytes
Hairless protein can block vitamin D activation in skin cells.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Clinical biochemistry of dihydrotestosterone
Understanding how DHT works is important for diagnosing and treating hormone-related disorders.
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.
research Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss
A gene variant increases the risk of a type of hair loss by affecting hair protein production.
research Novel insights into the molecular mechanisms underlying generalized glucocorticoid resistance and hypersensitivity syndromes
Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
research Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Early detection and biotin treatment improve outcomes for biotinidase deficiency.
research Proteomic Analysis of Two Stem Cell Secretomes Used in Combination in a Topical Skin Care Product That Has Demonstrated Efficacy in a Double-Blinded, Vehicle-Controlled Clinical Trial
The combined stem cell secretome in the skin care product effectively reduces inflammation and promotes tissue regeneration.
research Lipin 1 Gene Polymorphisms in Polycystic Ovary Syndrome
Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.
research Transgenic mice display hair loss and regrowth overexpressing mutant Hr gene
Mice with a changed Hr gene lose and regrow hair due to changes in the gene's activity.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research The role of P-cadherin in skin biology and skin pathology: lessons from the hair follicle
P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
research Human TSC2-null fibroblast-like cells induce hair follicle neogenesis and hamartoma morphogenesis
Cells from a skin condition can create new hair follicles and similar growths in mice, and a specific treatment can reduce these effects.
research Crosstalk between androgen and Wnt/β-catenin leads to changes of wool density in FGF5-knockout sheep
Blocking the FGF5 gene in sheep leads to more fine wool and active hair follicles due to changes in certain cell signaling pathways.
research Defining the identity of mouse embryonic dermal fibroblasts
Researchers identified specific genes that are important for mouse skin cell development and healing.
research Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: annotated tables
Mutant mice help researchers understand hair growth and related genetic factors.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats
A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
research Androgenetic Alopecia: In Vivo Models
Stump-tailed macaque best for researching hair loss causes and treatments.
research Industry update: the latest developments in the field of therapeutic delivery, July 2018
New partnerships, clinical trials, and drug approvals marked progress in therapeutic delivery in July 2018.