Related references
Note: Only part of the references are listed.The HIF and other quandaries in VHL disease
D. Tarade et al.
ONCOGENE (2018)
EPAS1 Mutations and Paragangliomas in Cyanotic Congenital Heart Disease
Anand Vaidya et al.
NEW ENGLAND JOURNAL OF MEDICINE (2018)
Homology modeling and molecular dynamics simulation of the HIF2α degradation-related HIF2α-VHL complex
Xiaotian Dong et al.
JOURNAL OF MOLECULAR GRAPHICS & MODELLING (2017)
Paraganglioma of the organ of Zuckerkandl associated with a somatic HIF2α mutation: A case report
Ahmad Esmaeel Abdullah et al.
ONCOLOGY LETTERS (2017)
A Somatic HIF2α Mutation-Induced Multiple and Recurrent Pheochromocytoma/Paraganglioma with Polycythemia: Clinical Study with Literature Review
Qiuli Liu et al.
ENDOCRINE PATHOLOGY (2017)
Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas
David Taieb et al.
JOURNAL OF NEURO-ONCOLOGY (2016)
HIF2A gain-of-function mutations detected in duodenal gangliocytic paraganglioma
Zhengping Zhuang et al.
ENDOCRINE-RELATED CANCER (2016)
Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome
Roland Darr et al.
ENDOCRINE-RELATED CANCER (2016)
EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis
Tzvetan Alaikov et al.
HEMATOLOGY (2016)
Oxygen-dependent Regulation of Erythropoietin Receptor Turnover and Signaling
Pardeep Heir et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2016)
PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels
Yongwook Choi et al.
BIOINFORMATICS (2015)
Paraganglioma and phaeochromocytoma: from genetics to personalized medicine
Judith Favier et al.
NATURE REVIEWS ENDOCRINOLOGY (2015)
Frequent EPAS1/HIF2α exons 9 and 12 mutations in non-familial pheochromocytoma
Jenny Welander et al.
ENDOCRINE-RELATED CANCER (2014)
The multifaceted von Hippel-Lindau tumour suppressor protein
Claire M. Robinson et al.
FEBS LETTERS (2014)
Mosaicism in HIF2A-Related Polycythemia-Paraganglioma Syndrome
Alexandre Buffet et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)
Rare Germline Mutations Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma
Jenny Welander et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)
MutationTaster2: mutation prediction for the deep-sequencing age
Jana Marie Schwarz et al.
NATURE METHODS (2014)
Ocular Manifestations of HypoxiaInducible Factor-2α Paraganglioma-Somatostatinoma-Polycythemia Syndrome
Karel Pacak et al.
OPHTHALMOLOGY (2014)
Polycythemia and Paraganglioma With a Novel Somatic HIF2A Mutation in a Male
Hidemi Toyoda et al.
PEDIATRICS (2014)
Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas
Chunzhang Yang et al.
BLOOD (2013)
In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas
Rodrigo A. Toledo et al.
ENDOCRINE-RELATED CANCER (2013)
Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range
Silverio Perrotta et al.
HAEMATOLOGICA (2013)
Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis
Inaki Comino-Mendez et al.
HUMAN MOLECULAR GENETICS (2013)
First Report of Bilateral Pheochromocytoma in the Clinical Spectrum of HIF2A-Related Polycythemia-Paraganglioma Syndrome
David Taieb et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2013)
New Syndrome of Paraganglioma and Somatostatinoma Associated With Polycythemia
Karel Pacak et al.
JOURNAL OF CLINICAL ONCOLOGY (2013)
A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma
Felipe R. Lorenzo et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2013)
DCNL1 Functions as a Substrate Sensor and Activator of Cullin 2-RING Ligase
Pardeep Heir et al.
MOLECULAR AND CELLULAR BIOLOGY (2013)
Two new mutations in the HIF2A gene associated with erythrocytosis
Melanie J. Percy et al.
AMERICAN JOURNAL OF HEMATOLOGY (2012)
Somatic HIF2A Gain-of-Function Mutations in Paraganglioma with Polycythemia
Zhengping Zhuang et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
High-resolution genome-wide mapping of HIF-binding sites by ChIP-seq
Johannes Schoedel et al.
BLOOD (2011)
Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega
Fabian Sievers et al.
MOLECULAR SYSTEMS BIOLOGY (2011)
CLICK-topology-independent comparison of biomolecular 3D structures
M. N. Nguyen et al.
NUCLEIC ACIDS RESEARCH (2011)
XDS
Wolfgang Kabsch
ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY (2010)
Features and development of Coot
P. Emsley et al.
ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY (2010)
PHENIX: a comprehensive Python-based system for macromolecular structure solution
Paul D. Adams et al.
ACTA CRYSTALLOGRAPHICA SECTION D-STRUCTURAL BIOLOGY (2010)
Erythrocytosis associated with a novel missense mutation in the HIF2A gene
Richard van Wijk et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2010)
Erythrocytosis-associated HIF-2α Mutations Demonstrate a Critical Role for Residues C-terminal to the Hydroxylacceptor Proline
Paul W. Furlow et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
HIF-2α maintains an undifferentiated state in neural crest-like human neuroblastoma tumor-initiating cells
Alexander Pietras et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Structural Basis for Binding of Hypoxia-Inducible Factor to the Oxygen-Sensing Prolyl Hydroxylases
Rasheduzzaman Chowdhury et al.
STRUCTURE (2009)
Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis
Melanie J. Percy et al.
BLOOD (2008)
Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2α mutation
Daniel P. Gale et al.
BLOOD (2008)
A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis
Maurizio Martini et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2008)
Oxygen sensing by metazoans: The central role of the HIF hydroxylase pathway
William G. Kaelin et al.
MOLECULAR CELL (2008)
Brief Report: PHD2 Mutation and Congenital Erythrocytosis with Paraganglioma
Charline Ladroue et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis
Melanie J. Percy et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Inference of macromolecular assemblies from crystalline state
Evgeny Krissinel et al.
JOURNAL OF MOLECULAR BIOLOGY (2007)
Differential regulation of the transcriptional activities of hypoxia-inducible factor 1 alpha (HIF-1α) and HIF-2α in stem cells
CJ Hu et al.
MOLECULAR AND CELLULAR BIOLOGY (2006)
The Oct4 and Nanog transcription network regulates pluripotency in mouse embryonic stem cells
YH Loh et al.
NATURE GENETICS (2006)
HIF-2α regulates Oct-4:: effects of hypoxia on stem cell function, embryonic development, and tumor growth
KL Covello et al.
GENES & DEVELOPMENT (2006)
A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis
MJ Percy et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Neuronal apoptosis linked to EgIN3 prolyl hydroxylase and familial pheochromocytoma genes: Developmental culling and cancer
S Lee et al.
CANCER CELL (2005)
Leu-574 of human HIF-1a is a molecular determinant of prolyl hydroxylation
Y Kageyama et al.
FASEB JOURNAL (2004)
Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect
K Astrom et al.
HUMAN GENETICS (2003)
Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia
SO Ang et al.
NATURE GENETICS (2002)
Structural basis for the recognition of hydroxyproline in αIF-1α by pVHL
WC Hon et al.
NATURE (2002)
Structure of an HIF-1α-pVHL complex:: Hydroxyproline recognition in signaling
JH Min et al.
SCIENCE (2002)
Duodenal somatostatinoma and erythrocytosis in a patient with von Hippel-Lindau disease type 2A
Y Karasawa et al.
INTERNAL MEDICINE (2001)
Ubiquitination of hypoxia-inducible factor requires direct binding to the β-domain of the von Hippel-Lindau protein
M Ohh et al.
NATURE CELL BIOLOGY (2000)