PLoS ONE, 2016 PurposeTo report identification of a COL17A1 mutation in a family with a corneal dystrophy previously mapped to chromosome 10q23-q24.MethodsWhole-exome sequencing was performed on DNA samples from five affected family members and two unrelated ...
Benjamin R Lin +9 more
doaj +2 more sources
Unveiling the Diagnostic Value and Potential Therapeutic Targets of Phenylalanine Metabolism in Pancreatic Cancer via Integrated Multi‐Omics and Machine Learning [PDF]
FASEB JMR identified phenylalanine as a causal PC risk factor (OR 1.18). A 5‐gene RF model (AUC 0.955) highlighted SLC6A14 as the top biomarker. Single‐cell analysis revealed epithelial–immune crosstalk. Molecular docking identified genistein (−9.1 kcal/mol) as a lead SLC6A14‐targeting compound.
Liu X, Li Y, Qin F, Ou J.
europepmc +2 more sources
Evaluation of tumor targets selected from public genomic databases for imaging of pancreatic ductal adenocarcinoma [PDF]
Scientific ReportsPancreatic ductal adenocarcinoma (PDAC) is an aggressive malignancy with a 5-year survival rate of approximately 5–7%, and complete surgical resection remains the only curative treatment but is often unfeasible.
Nada Badr +9 more
doaj +2 more sources
Integrating machine learning and experimental validation identifies a post-translational modification gene signature for prognosis and treatment response in breast cancer [PDF]
Scientific ReportsBreast cancer (BC) is the most prevalent malignancy among women, and the steadily increasing disease burden has garnered considerable global attention. Post-translational modifications (PTMs) are critical in the initiation and progression of BC.
Lina Zhao +7 more
doaj +2 more sources
Journal of Veterinary Diagnostic InvestigationJunctional epidermolysis bullosa (JEB) is a congenital blistering skin disorder with clefting within the lamina lucida of the basement membrane zone. We describe the clinical and morphologic features of JEB in a 4-mo-old domestic shorthair kitten and ...
Joshua A Stern, Abigail R Armwood
exaly +2 more sources
Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays [PDF]
npj Genomic MedicineJunctional epidermolysis bullosa (JEB) is characterized by mucocutaneous fragility. We enrolled 69 cases of recessive JEB, with 13.0% of these cases remained genetically undiagnosed following an initial exome sequencing.
Fuying Chen +9 more
doaj +2 more sources
Case Reports in Dermatological MedicineInherited epidermolysis bullosa (EB) is a rare group of monogenic disorders causing skin fragility. Junctional EB is the rarest subtype, caused by mutations in genes like COL17A1. Type 1 diabetes mellitus (DM) is a polygenic autoimmune disease.
Amir Abadi, Usra Ghanem, Fida Al Hijawi
doaj +2 more sources
Multi-omics and Mendelian randomization study explores potential therapeutic targets for meningiomas [PDF]
Discover OncologyBackground Meningioma is a common primary central nervous system tumor that can cause a heavy burden on patients. Despite its well-established treatment modalities, pharmacological treatments are not sufficiently abundant.
Yongxue Li +5 more
doaj +2 more sources
Epidermal NAD+ deficiency induces IL-36–mediated skin inflammation and acanthosis [PDF]
JCI InsightNicotinamide adenine dinucleotide (NAD+) is essential for cellular metabolism, DNA repair, and stress responses. NAD+ is synthesized from nicotinamide, nicotinic acid (collectively termed niacin), and tryptophan.
Taiki Seki +8 more
doaj +2 more sources
, 2023 Bullous pemphigoid (BP) is an autoimmune disease of the skin, characterized by the presence of subepidermal bullae, with higher predominance in the elderly.
Meltzanidou, Parthena +1 more
core +3 more sources