Associated Papers
Expanding the clinical tumor phenotype of the EPAS1-asssociated tumor syndrome.
Cole Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
Assessment of HIF2α mutational pathogenicity using microscale thermophoresis.
Ferens FG et al.
Biology Methods & Protocols, 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
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
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
EPAS1-mutated paragangliomas associated with haemoglobin disorders.
Mancini M et al.
British Journal of Haematology, 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
Single-nuclei and bulk-tissue gene-expression analysis of pheochromocytoma and paraganglioma links disease subtypes with tumor microenvironment.
Zethoven M et al.
Nature Communications, 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
Belzutifan, a Potent HIF2α Inhibitor, in the Pacak-Zhuang Syndrome.
Kamihara J et al.
The New England Journal of Medicine, 2021
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
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
HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease.
Tarade D et al.
Nature Communications, 2018
Update of Pheochromocytoma Syndromes: Genetics, Biochemical Evaluation, and Imaging.
Alrezk R et al.
Frontiers in Endocrinology, 2018
Homology modeling and molecular dynamics simulation of the HIF2α degradation-related HIF2α-VHL complex.
Dong X et al.
Journal of Molecular Graphics & Modelling, 2017
Somatic mosaicism of EPAS1 mutations in the syndrome of paraganglioma and somatostatinoma associated with polycythemia.
Yang C et al.
Human Genome Variation, 2015
Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.
Perrotta S et al.
Haematologica, 2013
Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.
Comino-Méndez I et al.
Human Molecular Genetics, 2013
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
A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.
Lorenzo FR et al.
Journal of Molecular Medicine (berlin, Germany), 2013
Regulation of erythropoiesis by hypoxia-inducible factors.
Haase VH
Blood Reviews, 2013
Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia.
Zhuang Z et al.
The New England Journal of Medicine, 2012