Associated Papers
Integrating evidence from protein domains to identify cancer driver mutations.
Ostroverkhova D et al.
Protein Science : a Publication of the Protein Society, 2026
Assessment of HIF2α mutational pathogenicity using microscale thermophoresis.
Ferens FG et al.
Biology Methods & Protocols, 2026
Multi-omic analysis of SDHB-deficient pheochromocytomas and paragangliomas identifies metastasis and treatment-related molecular profiles.
Flynn A et al.
Nature Communications, 2025
Elucidating loss-of-function mechanisms of monoallelic EPAS1 mutations underlying congenital hypoplastic anaemia in a paediatric anaemia cohort.
Zhang J et al.
British Journal of Haematology, 2025
Head and neck paraganglioma in Pacak-Zhuang syndrome.
Rosenblum JS et al.
Jnci Cancer Spectrum, 2025
Exploring pathogenesis, prevalence, and genetic associations in Chiari malformation type 1: a contemporary perspective.
Mohd Rosdi SN et al.
Asian Biomedicine : Research, Reviews and News, 2024
Multi-omic analysis of SDHB-deficient pheochromocytomas and paragangliomas identifies metastasis and treatment-related molecular profiles.
Flynn A et al.
Research Square, 2024
Deficiency in PHD2-mediated hydroxylation of HIF2α underlies Pacak-Zhuang syndrome.
Ferens FG et al.
Communications Biology, 2024
Pacak-Zhuang syndrome: a model providing new insights into tumor syndromes.
Rosenblum JS et al.
Endocrine-related Cancer, 2023
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Karaghiannis V et al.
Haematologica, 2023
Somatic Mosaicism of EPAS1 Mutations in Pacak-Zhuang Syndrome.
Wang H et al.
Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2022
Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.
Ma X et al.
Frontiers in Endocrinology, 2022
The Participation of the Intrinsically Disordered Regions of the bHLH-PAS Transcription Factors in Disease Development.
Kolonko-Adamska M et al.
International Journal of Molecular Sciences, 2021
Developmental vascular malformations in EPAS1 gain-of-function syndrome.
Rosenblum JS et al.
Jci Insight, 2021
Neuraxial dysraphism in EPAS1-associated syndrome due to improper mesenchymal transition.
Rosenblum JS et al.
Neurology. Genetics, 2020
Clinical manifestations of Pacak-Zhuang syndrome in a male pediatric patient.
Abdallah A et al.
Pediatric Blood & Cancer, 2020
The VHL/HIF Axis in the Development and Treatment of Pheochromocytoma/Paraganglioma.
Peng S et al.
Frontiers in Endocrinology, 2020
Chiari Malformation Type 1 in EPAS1-Associated Syndrome.
Rosenblum JS et al.
International Journal of Molecular Sciences, 2019
A Transgenic Mouse Model of Pacak⁻Zhuang Syndrome with An Epas1 Gain-of-Function Mutation.
Wang H et al.
Cancers, 2019
Exosomal double-stranded DNA as a biomarker for the diagnosis and preoperative assessment of pheochromocytoma and paraganglioma.
Wang L et al.
Molecular Cancer, 2018
HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease.
Tarade D et al.
Nature Communications, 2018
ARHI is a novel epigenetic silenced tumor suppressor in sporadic pheochromocytoma.
Wang D et al.
Oncotarget, 2017
New HIF2α inhibitors: potential implications as therapeutics for advanced pheochromocytomas and paragangliomas.
Toledo RA
Endocrine-related Cancer, 2017
Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.
Welander J et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Frequent EPAS1/HIF2α exons 9 and 12 mutations in non-familial pheochromocytoma.
Welander J et al.
Endocrine-related Cancer, 2014
HIF2 and endocrine neoplasia: an evolving story.
Maher ER
Endocrine-related Cancer, 2013
New syndrome of paraganglioma and somatostatinoma associated with polycythemia.
Pacak K et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2013
Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas.
Yang C et al.
Blood, 2013