research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
Search
for
Sort by
Research
840-870 / 1000+ results
research Oral medications for central serous chorioretinopathy: a literature review
Some oral medications may help treat central serous chorioretinopathy, especially eplerenone, but more research is needed.
research Mapping Metabolism: Monitoring Lactate Dehydrogenase Activity Directly in Tissue
The document concludes that the technique allows for the detection of LDH activity in various tissues, showing where cells are actively metabolizing glucose.
research 5α-Reductase Type 1 Deficiency or Inhibition Predisposes to Insulin Resistance, Hepatic Steatosis, and Liver Fibrosis in Rodents
Lack of 5α-Reductase type 1 can lead to insulin resistance and liver problems.
research 5alpha-reductase 2 inhibition impairs brain defeminization of male rats: Reproductive aspects
5alpha-reductase 2 is crucial for proper male brain development and sexual differentiation.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Quercetin rescues dihydrotestosterone-treated human dermal papilla cells via SHP2/AKT signaling to suppress autophagy and apoptosis
research VDR is an essential regulator of hair follicle regression through the progression of cell death
Vitamin D Receptor is crucial for hair follicle shrinkage and cell death, affecting hair growth.
research Prediction and Demonstration of Retinoic Acid Receptor Agonist Ch55 as an Antifibrotic Agent in the Dermis
Ch55 may help reduce skin scarring and fibrosis.
research 51223 A novel human disease model of alopecia areata to evaluate benefit of the DHODH inhibitor farudodstat
Farudodstat may effectively treat alopecia areata without harmful side effects.
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
research Inactivation of the Vitamin D Receptor Enhances Susceptibility of Murine Skin to UV-Induced Tumorigenesis
Mice without the vitamin D receptor are more prone to UV-induced skin tumors.
research The effects of phosphodiesterase 3 (PDE3) inhibitor on hair follicle cell viability and hair growth
PDE3 inhibitor may help treat hair loss by promoting hair growth.
research Patient Profile and Treatment Characteristics of Early Ritlecitinib Initiators in the US
Ritlecitinib provides new treatment options for diverse alopecia areata patients.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research Higher Levels of Steroidogenic Acute Regulatory Protein and Type I 3β-Hydroxysteroid Dehydrogenase in the Scalp of Men with Androgenetic Alopecia
Men with baldness have higher levels of specific proteins, suggesting local hormone production may play a role in hair loss.
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 Retardation of Hair Follicle Development by the Deletion of TrkC, High-Affinity Neurotrophin-3 Receptor
Lack of TrkC receptor delays hair follicle development.
research 25 Hydroxyvitamin D 1 α-Hydroxylase Is Required for Optimal Epidermal Differentiation and Permeability Barrier Homeostasis
The enzyme 25 Hydroxyvitamin D 1 α-Hydroxylase is essential for healthy skin and recovery after skin damage.
research DEVELOPMENT OF A DESMOCOLLIN-3 ACTIVE MOUSE MODEL RECAPITULATING HUMAN ATYPICAL PEMPHIGUS
Anti-Desmocollin 3 antibodies can cause atypical pemphigus symptoms.
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research ESDR333 – Poor perifollicular vascularization is associated with nutrient insufficiency and a quiescent metabolic phenotype in intermediate hair follicles from patients with female pattern hair loss
research Modulation of Vitamin D Receptor Activity by the Corepressor Hairless: Differential Effects of Hairless Isoforms
Different Hairless isoforms affect Vitamin D receptor activity in hair regulation, with one repressing and the other stimulating it.
research Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets
A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
research Long-term Efficacy and Safety of Ritlecitinib in Adults and Adolescents with Alopecia Areata: 3-year Results from the ALLEGRO-LT Phase 3, Open-label Study
Ritlecitinib is effective and safe for long-term treatment of alopecia areata.
research Suppression of mammary tumorigenesis in transgenic mice by the RXR-selective retinoid, LGD1069.
LGD1069 effectively prevents breast tumors in mice without toxicity.
research Mechanisms of Disease: selective inhibition of 11β-hydroxysteroid dehydrogenase type 1 as a novel treatment for the metabolic syndrome
Blocking the enzyme 11β-HSD1 might help treat obesity and metabolic issues.
research 1393 Human TMEM2 is not a hyaluronidase but a regulator of hyaluronan metabolism
Human TMEM2 does not break down hyaluronan but helps control its metabolism.
research 519 Design of a new molecule proven to be safe and effective for topical depigmenting and antiaging method
A new molecule was found to be a safe and effective skin lightener and anti-aging product.
research Evaluation of clinical and trichoscopic features of androgenetic alopecia and its relation with disease severity
PFD patch helps laser tattoo removal, trichoscopy diagnoses AGA, and serum boosts SOD activity.