research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
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research Myotonic dystrophy type 1
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research Linear immunoglobulin A/immunoglobulin G bullous dermatosis associated with Vogt-Koyanagi-Harada disease
A man had two rare autoimmune diseases that might be connected.
research VDAC2 Mediates the Apoptosis of Cashmere Goat Hair Follicle Stem Cells Through the P53 Signaling Pathway
VDAC2 promotes cell death in cashmere goat hair follicles through the P53 pathway.
research NUDT15,FTO, andRUNX1genetic variants and thiopurine intolerance among Japanese patients with inflammatory bowel diseases
Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
research 875 A novel animal model of Desmoglein 1 (Dsg1) deficiency reveals an essential role for Dsg1 in epidermal barrier formation
Dsg1 is essential for maintaining a healthy skin barrier in mice.
research Neoadjuvant Therapy with Disitamab Vedotin in Treating Muscle-Invasive Bladder Cancer: A Case Report
Gemcitabine and Disitamab Vedotin effectively and safely reduced bladder cancer in a patient.
research The long road traveled in hematopoietic stem cell gene therapy
The FDA approved the first gene therapy for a blood disorder after overcoming early challenges and demonstrating patient benefits.
research 446 Protective effect of DA-9401 in finasteride-induced apoptosis in rat testis: inositol requiring kinase 1 and c-Jun N-terminal kinase pathway
Finasteride helps female-pattern hair loss.
research Prostaglandin D2(PGD2); prostaglandin D2 receptor (CRTH2; GPR44; CD294); prostaglandin D2 synthase (PTGDS)
Blocking a protein called prostaglandin D2 might help treat hair loss.
research Granulomatosis Disciformis Chronica et Progressiva With Lymphadenopathy
A 31-year-old man has a chronic skin condition with red plaques, hair loss, and swollen lymph nodes.
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 No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research 43755 Rapid Reduction and Strict Complete Response in Itch With Oral Difelikefalin in Subjects With Notalgia Paresthetica and Moderate-to-Severe Pruritus
Oral difelikefalin significantly reduces itch in notalgia paresthetica.
research 267 Single- and multiple-ascending dose studies of DS-2325a, a KLK5 inhibitor for the treatment of Netherton syndrome
DS-2325a is safe and well-tolerated, supporting further development for Netherton Syndrome treatment.
research Six SNPs and a TTG indel in sheep desmoglein 4 gene are in complete linkage disequilibrium
Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
research DKK4 as a novel candidate marker for Zhexi Angora rabbit wool quality
DKK4 can be used to improve wool quality in Zhexi Angora rabbits.
research Search for the Crucial Extracellular Nucleotide Receptor: Kinase Receptor DORN1’s Role in the eATP and eADP Stomatal Signaling Pathways in Arabidopsis thaliana
DORN1 receptor affects eATP-induced stomatal changes but not eADP in Arabidopsis thaliana.
research AGD1, a class 1 ARF‐GAP, acts in common signaling pathways with phosphoinositide metabolism and the actin cytoskeleton in controlling Arabidopsis root hair polarity
AGD1 is important for root hair development in Arabidopsis, working with phosphoinositide signaling and the actin cytoskeleton.
research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research Dacomitinib-Induced Paronychia Associated With PRIDE Syndrome in a Patient With Non-Small Cell Lung Cancer
Dacomitinib can cause nail and skin issues, but these can be managed without stopping the drug.
research A role for steroid 5 alpha-reductase 1 in vascular remodeling during endometrial decidualization
The enzyme 5α-reductase type 1 is important for blood vessel development and fertility in the uterus.
research LB1256 TRIV-509, a dual inhibitor of KLK5 and KLK7, rapidly improves barrier integrity and markers of epidermal differentiation in atopic dermatitis skin explants
TRIV-509 quickly improves skin barrier and cell health in atopic dermatitis.
research 975 Antifibrogenic activities of novel vitamin D3 analogs are dependent on VDR expression in human fibroblasts
New vitamin D3 forms need the vitamin D receptor to reduce fibrosis in human cells.
research Administration of dutasteride in animal models of retinitis pigmentosa
Dutasteride potentially improves cell survival and reduces retinal damage in retinitis pigmentosa.
research The preventive effect of vitamin D3 on radiation-induced hair toxicity in a rat model
Vitamin D3 may protect rat hair follicles from radiation damage.
research Use of dermatoscopy and videodermatoscopy in therapeutic follow-up: a review
Dermatoscopy and videodermatoscopy are useful and reliable for tracking treatment progress in various skin conditions.
research 177 Chronic graft-versus-host disease exhibits distinct Th1-skewing and barrier abnormalities in the skin
Chronic graft-versus-host disease in the skin shows strong Th1 immune response and unique barrier issues.
research 130 Dermal IgA deposition targeted against Transglutaminase 3 in Dermatitis herpetiformis risk groups
Dermal IgA deposition without symptoms is rare in Dermatitis herpetiformis risk groups.
research Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.