research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
Search
for
Sort by
Research
510-540 / 1000+ results
research Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations
Researchers found 15 new genetic links to skin traits in Japanese women.
research Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination
The ASIP gene is crucial for determining cattle coat color.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Crystallization and preliminary X-ray analysis of the human androgen receptor ligand-binding domain with a coactivator-like peptide and selective androgen receptor modulators
Scientists successfully created and analyzed the structure of a part of the human androgen receptor with specific modulators and a peptide to understand how it binds differently in various tissues.
research A Sonidegib Experience in the Treatment of Basal Cell Carcinoma with Systemic Lupus Erythematosus: A Case Report
Sonidegib effectively treated basal cell carcinoma in a patient with lupus without worsening lupus symptoms.
research rPanglaoDB: an R package to download and merge labeled single-cell RNA-seq data from the PanglaoDB database
rPanglaoDB helps study rare cell types by merging RNA data, confirming fibrocytes' role in healing.
research A Fibrous Hybrid Patch Couples Cell-Derived Matrix and Poly(l -lactide-co-caprolactone) for Endothelial Cells Delivery and Skin Wound Repair
The new patch made of cell matrix and a polymer improves wound healing and supports blood vessel growth.
research Solid Lipid Nanoparticles (SLN): Method, Characterization and Applications
Solid lipid nanoparticles are promising for delivering various drugs and improving treatment effectiveness.
research Sweet Syndrome as the Presenting Symptom of Relapsed Hairy Cell Leukemia
Sweet syndrome can be the only sign of hairy cell leukemia relapse.
research Decision letter: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
research Pax9 is required for filiform papilla development and suppresses skin-specific differentiation of the mammalian tongue epithelium
Pax9 is crucial for proper tongue surface development and preventing skin-like changes.
research Risk Analysis of Lurasidone in Patients with Schizophrenia and Bipolar Depression
Lurasidone is effective for bipolar depression and schizophrenia, but more safety data is needed.
research Systemic lupus Erythematous as an Unusual Cause of Intussusception in Sudanese Woman: Case report
Systemic lupus erythematosus caused severe abdominal issues in a Sudanese woman.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research 0870 Improving the stability of retinol: Overcoming obstacles through solid lipid particle technology
Solid Lipid Particle technology makes retinol more stable, effective, and gentle on the skin.
research The silver locus product (Silv/gp100/Pmel17) as a new tool for the analysis of melanosome transfer in human melanocyte–keratinocyte co‐culture
The new assay can track and measure melanosome transfer between skin cells, confirming filopodia's role in this process.
research Rapid Formation of Cell Aggregates and Spheroids Induced by a “Smart” Boronic Acid Copolymer
A boronic acid copolymer quickly forms cell clusters, useful for tissue and tumor modeling.
research Curly bare (cub), a new mouse mutation on chromosome 11 causing skin and hair abnormalities, and a modifier gene (mcub) on chromosome 5
A new mouse mutation causes skin and hair issues, influenced by another gene.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Cell observation method under near-living conditions by scanning electron microscopy
The method using ionic liquid improves observation of cell structures with less damage.
research MOF-mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions By Controlling Gene Promoters
MOF controls skin development by regulating genes for mitochondria and cilia.
research 1329 CENPV is a novel CYLD-interacting molecule regulating ciliary acetylated tubulin
CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research SOX9 in organogenesis: shared and unique transcriptional functions
SOX9 is essential for the development of various organs and hair follicles.
research Activated Polyamine Catabolism Depletes Acetyl-CoA Pools and Suppresses Prostate Tumor Growth in TRAMP Mice
Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
research Comprehensive Case Analysis: Diagnosing and Managing Myositis in Newly Diagnosed Systemic Lupus Erythematosus Patients in Indonesia
Early diagnosis and treatment of myositis in SLE patients lead to better outcomes.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Index of Suspicion
The document's conclusion cannot be summarized because the content is not available to parse.
research PO.8.170 Drug-induced lupus or systemic lupus erythematosus after experimental COVID-19 therapy: difficulties in differential diagnosis
Distinguishing drug-induced lupus from systemic lupus is challenging and requires careful monitoring.