research Birt-Hogg-Dubé Syndrome: From Gene Discovery to Molecularly Targeted Therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
Search
for
Sort by
Research
210-240 / 441 resultsresearch Gene Therapy to Enhance Angiogenesis in Chronic Wounds
Gene therapy shows promise for healing chronic wounds but needs more research to overcome challenges.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Disruption of Tubular Flcn Expression as a Mouse Model for Renal Tumor Induction
Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
research Orchestration of Tissue-Scale Mechanics and Fate Decisions by Polarity Signaling
Cell polarity signaling controls tissue mechanics and cell fate, with complex interactions and varying pathways across species.
research Promoter Methylation Changes in KRT17: A Novel Epigenetic Marker for Wool Production in Angora Rabbit
Changes in KRT17 gene activity linked to wool production in Angora rabbits.
research New Frontiers in CRISPR/Cas9 Delivery Systems for Gene Editing
Efficient delivery systems are needed for the clinical use of CRISPR-Cas9 gene editing.
research Biallelic HEPHL1 Variants Impair Ferroxidase Activity and Cause an Abnormal Hair Phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Germline Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Challenges Associated With the Identification of Germline Variants on Myeloid Malignancy Genomic Profiling—A Singaporean Experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research Skin Manifestations Among GATA2-Deficient Patients
Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
research Fatal Autoimmunity Results from the Conditional Deletion of Snai2 and Snai3
Deleting Snai2 and Snai3 causes fatal autoimmunity.
research Dermal Adipose Tissue Has High Plasticity And Undergoes Reversible Dedifferentiation In Mice
Dermal adipose tissue in mice can change and revert to help with skin health.
research Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling
The research confirms that Hidradenitis Suppurativa is characterized by increased inflammation, disrupted skin cell organization, and abnormal metabolic processes.
research A Kindred With Mutant IKAROS and Autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
research Skin-Specific Regulation of SREBP Processing and Lipid Biosynthesis by Glycerol Kinase 5
A gene called Gk5 controls lipid production in the skin and affects hair growth.
research Molecular Pathology of Skin Adnexal Tumors
New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
research The Clinicopathological Spectrum of Trichoepitheliomas: A Retrospective Descriptive Study
Trichoepitheliomas can be hard to distinguish from other skin conditions and often start in teenage years.
research FGF Family: From Drug Development to Clinical Application
FGF signaling is a promising target for developing treatments for wounds, metabolic diseases, and cancer.
research The Emerging Role of Janus Kinase Inhibitors in the Treatment of Autoimmune and Inflammatory Diseases
Janus kinase inhibitors are promising drugs for treating autoimmune and inflammatory diseases.
research Alisertib Is Active as Single Agent in Recurrent Atypical Teratoid Rhabdoid Tumors in Four Children
Alisertib was found to be an effective and tolerable treatment for children with recurrent brain tumors.
research Unmet Medical Needs in Chronic, Non-Communicable Inflammatory Skin Diseases
There are still challenges in diagnosing and treating chronic skin diseases, but there is hope for future improvements.
research Adrenal Disorders and the Pediatric Brain: Pathophysiological Considerations and Clinical Implications
Adrenal disorders can cause lasting brain and behavior issues in children.
research Non-Canonical Dimerization of the Androgen Receptor and Other Nuclear Receptors: Implications for Human Disease
Mutations in certain receptors can cause diseases and offer new treatment options.
research Candidate SNP Markers of Reproductive Potential Predicted by Significant Change in Affinity of TATA-Binding Protein for Human Gene Promoters
Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
research Dermatopathology and Molecular Genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Immunological Aspects and Gender Bias During Respiratory Viral Infections Including Novel Coronavirus Disease-19 (COVID-19): A Scoping Review
Men are more likely to have severe respiratory viral infections like COVID-19 due to hormonal and genetic differences, while women generally have stronger immune responses.
research Smoothened Receptor Inhibitor Vismodegib for the Treatment of Basal Cell Carcinoma: A Retrospective Analysis of Efficacy and Side Effects
Vismodegib is effective for basal cell carcinoma but has severe side effects.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.