research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
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870-900 / 1000+ resultsresearch Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research Preclinical Pharmacology, Antitumor Activity, and Development of Pharmacodynamic Markers for the Novel, Potent AKT Inhibitor CCT128930
CCT128930 is a promising new drug that effectively targets and inhibits a cancer-related protein, showing potential for cancer treatment.
research Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation
Cathepsin L deficiency causes hair and skin issues in mice.
research Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
research Expression and Function of Group IIE Phospholipase A2 in Mouse Skin
sPLA2-IIE is crucial for normal hair follicle structure and skin health.
research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
research Mice lacking the epidermal retinol dehydrogenases SDR16C5 and SDR16C6 display accelerated hair growth and enlarged meibomian glands
Mice without certain skin enzymes have faster hair growth and bigger eye glands.
research Roles of MED1 in Quiescence of Hair Follicle Stem Cells and Maintenance of Normal Hair Cycling
MED1 is essential for normal hair growth and maintaining hair follicle stem cells.
research Hair shaft disorders in children – An update
Diagnosing and managing children's hair shaft disorders is challenging but essential.
research Wound Healing Impairment in Type 2 Diabetes Model of Leptin-Deficient Mice—A Mechanistic Systematic Review
Leptin-deficient mice, used as a model for Type 2 Diabetes, have delayed wound healing due to impaired contraction and other dysfunctional cellular responses.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Osteopontin Gene Polymorphisms rs1126616 C>T and rs1126772 A>G are Associated with Atopic Dermatitis in Polish Population
Certain gene changes in osteopontin are linked to higher risk of atopic dermatitis and asthma.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1
A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity
Genetic testing is crucial for diagnosing rare hair loss disorders.
research Generalised Glucocorticoid Resistance
Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.
research The molecular basis of human keratin disorders
research Hub biomarkers in ultrasound-guided bladder cancer and osteosarcoma: Myosin light chain kinase and caldesmon
Lower levels of MYLK and CALD1 in bladder cancer and osteosarcoma are linked to worse survival rates.
research Molecular landscape of lung cancer: insights into therapeutic targets and clinical outcomes
New treatments targeting genetic mutations in lung cancer are needed for better outcomes.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research Epigenetics of Colorectal Cancer
Colorectal cancer development involves both genetic changes and epigenetic alterations like DNA methylation and microRNA changes.
research Developmental and functional roles of androgen and interactive signals for external genitalia and erectile tissues
Androgen and Wnt signals are crucial for developing and functioning male genitalia and erectile tissues.
research Comparative advantage and efficacy of natural products for polycystic ovary syndrome
More research is needed to confirm if natural products effectively treat PCOS.
research Molecular Mechanisms and Targeted Therapeutics in Androgenetic Alopecia: From Signaling Pathways to Regenerative Approaches
Future treatments for hair loss may focus on personalized and regenerative approaches.
research Poster Presentations at the 28th Joint Meeting of the International Society of Dermatopathology, March 5–6, 2025, Orlando, Florida, USA
Accurate diagnosis and personalized treatment are crucial in dermatopathology.
research UTX (KDM6A) promotes differentiation noncatalytically in somatic self-renewing epithelia
UTX is crucial for skin differentiation and health, especially in females.
research The expanding significance of keratin intermediate filaments in normal and diseased epithelia
Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.