Associated Papers
Mechanisms of resistance to VHL loss-induced genetic and pharmacological vulnerabilities.
Ge J et al.
Embo Molecular Medicine, 2025
Dysregulation of the ubiquitin-proteasome system in von Hippel-Lindau syndrome: molecular insights and clinical perspectives.
Bi Y et al.
Clinical and Experimental Medicine, 2025
VHL Suppresses Angiogenesis Through HIF-1a-Mediated Ang/Tie2/AMPK/VEGF Signaling Pathway in Tie-2 Expressed Macrophages (TEMs).
Zou MC et al.
Biochemical Genetics, 2025
Advancing the Landscape of Clinical Actionability in Von Hippel-Lindau Syndrome: An Evidence-Based Framework from the INT2GRATE Oncology Consortium.
Koeller DR et al.
Cancers, 2025
Update on Surveillance in Von Hippel-Lindau Disease.
Rednam SP et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
Von Hippel-Lindau Disease : A Comprehensive Review of Diagnosis, Genetics, Clinical Challenges, and Surveillance.
Jung NY et al.
Journal of Korean Neurosurgical Society, 2025
UBE2V1 Promotes Hepatocellular Carcinoma Progression by Forming a Positive Feedback Loop with HIF-1α.
Yuan Z et al.
Research (washington, D.c.), 2025
Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL.
Suzuki Y et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2024
Ubiquitin-specific proximity labeling for the identification of E3 ligase substrates.
Huang HT et al.
Nature Chemical Biology, 2024
Belzutifan in Individuals with von Hippel-Lindau Retinal Hemangioblastomas: Institutional Experience and Review of the Literature.
Jamshidi F et al.
Ocular Oncology and Pathology, 2024
Multiple Primary Paragangliomas in a Pediatric Patient With von Hippel Lindau: A Diagnostic Dilemma.
Magnan K et al.
Jcem Case Reports, 2024
Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics.
Gómez-Virgilio L et al.
Diagnostics (basel, Switzerland), 2024
The genetic differences between types 1 and 2 in von Hippel-Lindau syndrome: comprehensive meta-analysis.
Azimi F et al.
Bmc Ophthalmology, 2024
Trigeminal nerve hemangioblastoma in the setting of undiagnosed von Hippel-Lindau disease: illustrative case.
Busch NL et al.
Journal of Neurosurgery. Case Lessons, 2024
Screening and surveillance recommendations for central nervous system hemangioblastomas in pediatric patients with Von Hippel-Lindau disease.
Knoblauch AL et al.
Journal of Neuro-oncology, 2024
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.
Buckley M et al.
Nature Genetics, 2024
VHL suppresses autophagy and tumor growth through PHD1-dependent Beclin1 hydroxylation.
Wang Z et al.
The Embo Journal, 2024
Hereditary Renal Cancer Syndromes.
Yanus GA et al.
Medical Sciences (basel, Switzerland), 2024
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 2024
Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.
Chiorean A et al.
Human Mutation, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata.
Ohh M et al.
Elife, 2022
Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.
Savatt JM et al.
Bmc Medicine, 2022
Impaired oxygen-sensitive regulation of mitochondrial biogenesis within the von Hippel-Lindau syndrome.
Li S et al.
Nature Metabolism, 2022
Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service.
Maher ER et al.
British Journal of Cancer, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.
Hudler P et al.
Genes, 2022
Deubiquitylase OTUD6B stabilizes the mutated pVHL and suppresses cell migration in clear cell renal cell carcinoma.
Guo K et al.
Cell Death & Disease, 2022
pVHL-mediated SMAD3 degradation suppresses TGF-β signaling.
Zhou J et al.
The Journal of Cell Biology, 2022
Intrafamilial Variability of Ocular Manifestations of von Hippel-Lindau Disease.
Bowen RC et al.
Ophthalmology. Retina, 2022
VHL-P138R and VHL-L163R Novel Variants: Mechanisms of VHL Pathogenicity Involving HIF-Dependent and HIF-Independent Actions.
Mathó C et al.
Frontiers in Endocrinology, 2022
Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype-phenotype correlation and gene therapy perspective.
Tong D et al.
Cancer Cell International, 2021
Genotype-phenotype correlation in von Hippel-Lindau disease.
Reich M et al.
Acta Ophthalmologica, 2021