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210-240 / 1000+ resultsresearch Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research Paroxysmal Nocturnal Hemoglobinuria in Systemic Lupus Erythematosus: A Rare Manifestation.
PNH can occur in patients with SLE, so doctors should be aware of this.
research LPA-producing enzyme PA-PLA1α regulates hair follicle development by modulating EGFR signalling
The enzyme PA-PLA1α is important for proper hair follicle development.
research Author response: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
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 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome
Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
research Lambertianic Acid from Platycladus orientalis Inhibits Muscle Atrophy in Dexamethasone-Induced C2C12 Muscle Atrophy Cells
Lambertianic acid helps prevent muscle wasting.
research Thymic Stromal Lymphopoietin in Cutaneous Immune-Mediated Diseases
A protein called lfTSLP is important in causing allergic and other skin diseases and could be a target for treatment.
research Platelet‐rich plasma as a new and successful treatment for lichen planopilaris: A controlled blinded randomized clinical trial
Platelet-rich plasma (PRP) is an effective treatment for lichen planopilaris.
research Preclinical Development and Phase I Study of ZSYY001 , a Polymeric Micellar Paclitaxel for Advanced Solid Tumor
ZSYY001 is safe, well-tolerated, and shows promise for treating advanced solid tumors.
research Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research Topical Delivery of Tofacitinib in Dermatology: The Promise of a Novel Therapeutic Class Using Biodegradable Dendritic Polyglycerol Sulfates
A new carrier improves skin delivery of tofacitinib for treating inflammatory skin diseases.
research Polyglandular autoimmune syndrome type III with a prevalence of cutaneous features
PAS III can cause multiple autoimmune diseases with noticeable skin issues.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research Discovery and Optimization of Novel Pyridines as Highly Potent and Selective Glycogen Synthase Kinase 3 Inhibitors
New pyridine compounds effectively inhibit GSK3, a diabetes treatment target.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Mitochondrial Dysfunction in Lichen Planopilaris with Focus on Oxidative Stress and Metabolic Reprogramming
Mitochondrial dysfunction and oxidative stress may play a role in Lichen Planopilaris.
research Alopecia Induced by Poly-L-Lactic Acid Injection
Poly-L-lactic acid injections can cause hair loss and skin issues.
research SnapshotDx Quiz: December 2018
Lichen Planopilaris causes irreversible hair loss due to immune attacks on hair stem cells, but modulating PPAR-γ might help treat it.
research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research The Role of PPARβ/δ-Related Lipid Metabolism in High-Altitude Adaptation of Yak Coat Based on Proteomics and Metabolomics
PPARβ/δ helps yaks adapt to high altitudes by regulating lipid metabolism in their coats.
research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH
A genetic mutation in the LIPH gene causes hair loss and growth defects.
research Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome
Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
research Dermoscopy of discoid lupus erythematosus: Report of two cases
Dermoscopy helped diagnose discoid lupus erythematosus in two patients without needing skin biopsies.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Inhibitory Effects of Apple Polyphenols on Differentiation of 3T3-L1 Cells into Adipocytes.
Apple polyphenols, especially from unripe apples, can help prevent cells from turning into fat cells.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Ponatinib-induced pityriasis rubra pilaris-like adnexal dysmaturation: A case report
Ponatinib can cause a rare skin reaction that resolves with topical treatment and temporary drug discontinuation.
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.