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
A schema for sporadic and heritable disease pathogenesis integrating spatiotemporal distribution with the character of genetic variants.
Alkaissi H et al.
Communications Medicine, 2025
Genetics of urinary bladder paragangliomas: a multi-center study of a Chinese cohort.
Jiang J et al.
Journal of Endocrinological Investigation, 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
GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.
Ikeuchi H et al.
Oncogene, 2024
Real-World Impact of Deep Targeted Sequencing on Erythrocytosis and Thrombocytosis Diagnosis: A Reference Centre Experience.
Blanco-Sánchez A et al.
Cancers, 2024
Deficiency in PHD2-mediated hydroxylation of HIF2α underlies Pacak-Zhuang syndrome.
Ferens FG et al.
Communications Biology, 2024
Somatic EPAS1 Variants in Pheochromocytoma and Paraganglioma in Patients With Sickle Cell Disease.
White G et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
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
Cytoplasmic HIF-2α as tissue biomarker to identify metastatic sympathetic paraganglioma.
Karakaya S et al.
Scientific Reports, 2023
Paraganglioma with High Levels of Dopamine, Dopa Decarboxylase Suppression, Dopamine β-hydroxylase Upregulation and Intra-tumoral Melanin Accumulation: A Case Report with a Literature Review.
Nezu M et al.
Internal Medicine (tokyo, Japan), 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
Genetic Analysis of Pheochromocytoma and Paraganglioma Complicating Cyanotic Congenital Heart Disease.
Ogasawara T et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.
Ben Aim L et al.
Journal of Medical Genetics, 2022
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
A case of juvenile-onset pheochromocytoma with KIF1B p.V1529M germline mutation.
Nezu M et al.
Endocrine Journal, 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
Update on mutations in the HIF: EPO pathway and their role in erythrocytosis.
Lappin TR et al.
Blood Reviews, 2019
Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma.
Ben Aim L et al.
Journal of Medical Genetics, 2019
A Transgenic Mouse Model of Pacak⁻Zhuang Syndrome with An Epas1 Gain-of-Function Mutation.
Wang H et al.
Cancers, 2019
Nonmosaic somatic HIF2A mutations associated with late onset polycythemia-paraganglioma syndrome: Newly recognized subclass of polycythemia-paraganglioma syndrome.
Pang Y et al.
Cancer, 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
Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene.
Juhlin CC et al.
Genes, Chromosomes & Cancer, 2015
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
Paragangliomas: update on differential diagnostic considerations, composite tumors, and recent genetic developments.
Papathomas TG et al.
Seminars in Diagnostic Pathology, 2013
Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.
Comino-Méndez I et al.
Human Molecular Genetics, 2013
In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas.
Toledo RA et al.
Endocrine-related Cancer, 2013
HIF2 and endocrine neoplasia: an evolving story.
Maher ER
Endocrine-related Cancer, 2013
HIF2A mutations in paraganglioma with polycythemia.
Favier J et al.
The New England Journal of Medicine, 2012