Cited by 157Erythropoietin and Anemia TreatmentPulmonary Hypertension Research and TreatmentsMyeloproliferative Neoplasms: Diagnosis and Treatment

The DOI matches its Crossref record; 10 of the 11 references it cites were found in a registry or an index.

Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2α mutation

Open access

Gale, Daniel P., Harten, Sarah K., Reid, Cecil D. L., Tuddenham, Edward G. D., Maxwell, Patrick H.·2008·Blood

DOI 10.1182/blood-2008-04-153718

Open this paper in CoChat — free account Open PDF

Abstract

investigated for BCR-ABL transcripts with 2 different polymerase chain reaction (PCR) methods as previously described in detail.1,2 Forty-six (1.8%) cases showed an ambiguous result and were not considered for further analysis.Of the remaining 2498 cases, 904 (36.2%) were BCR-ABL ϩ (599 ϭ 24% minor breakpoint region [m-bcr] and 282 ϭ 11.3% major breakpoint region [M-bcr], 15 ϭ 0.6% both, M-bcr and m-bcr, and 8 atypical transcripts), and 1594 were BCR-ABL Ϫ .Atypical transcripts were not systematically detected before 2000 1 and thus had to be excluded from further analysis.We grouped patients into age cohorts at 10-year intervals according to their age at diagnosis, each comprising between 277 and 481 patients and found a remarkable increase of BCR-ABL frequency in adolescents and young adults (Figure 1).It increased from 12.7% in adolescents (15-24 years) to 30.6% and 43.7% in patients aged 25 to 34 and 35 to 44 years, respectively.In patients older than 44 years, the BCR-ABL frequency showed no further increment and ranged between 42% and 44%.The increase of BCR-ABL frequency was paralleled by a relative increase of M-bcr transcripts.These transcripts accounted for 16.4% of all BCR-ABL-positive cases in adolescents (15-24 years).Their relative frequency increased to 22.5% in 25-to 34-year-olds and to 36.8% in 35-to 44-year-olds and remained between 33% and 36.2% from then on.The reason for this age dependency is not obvious.The relative frequencies of immunologic subtypes (78.2% common, 19.9% pre-B, 1.9% pro-B) of BCR-ABL ϩ patients did not differ significantly across the age groups.Moreover, the frequency of BCR-ABL was also not significantly different in woman compared with men.Our study excluded lymphatic blast crises in patients with known chronic myeloid leukemia (CML).Previous work has indicated that M-bcr-and m-bcr-positive ALL may arise from different sets of hematopoietic progenitor cells, 3 but this does not explain the age dependency.A number of genetic markers in ALL show a marked age dependency (reviewed in Armstrong and Look 4 ), eg, TEL-AML1, TLX1, and TLX3, MLL aberrations (especially in infant ALL).Our data provide additional information on the biology of BCR-ABL-positive ALL and substantiate evidence of age-dependent variation in the genetic background of ALL.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1182/blood-2008-04-153718

Cites

10 of 10 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Widespread, hypoxia‐inducible expression of HIF‐2α in distinct cell populations of different organs
Wiesener, M. S., Jürgensen, J. S., Rosenberger, C., Scholze, C. K., Hörstrup, J. H., Warnecke, C., Mandriota, S. J., Bechmann, I., Frei, U. A., Pugh, C. W., et al. (2002) · The FASEB Journal · doi:10.1096/fj.02-0445fje · Cited by 770
Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia
Ang, S. O., Chen, H., Hirota, K., Gordeuk, V. R., Jelinek, J., Guan, Y., Liu, E., Sergueeva, A. I., Miasnikova, G. Y., Mole, D., et al. (2002) · Nature Genetics · doi:10.1038/ng1019 · Cited by 510
Self-citation
Differentiating the functional role of hypoxia‐inducible factor (HIF)‐1α and HIF‐2α (EPAS‐1) by the use of RNA interference: erythropoietin is a HIF‐2α target gene in Hep3B and Kelly cells
Warnecke, C., Zaborowska, Z., Kurreck, J., Erdmann, V. A., Frei, U. A., Wiesener, M. S., & Eckardt, K. (2004) · The FASEB Journal · doi:10.1096/fj.04-1640fje · Cited by 406
A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis
Percy, M. J., Zhao, Q., Flores, A., Harrison, C., Lappin, T. R. J., Maxwell, P. H., McMullin, M. F., & Lee, F. S. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0508423103 · Cited by 330
Self-citation
Heterozygous deficiency of hypoxia-inducible factor–2α protects mice against pulmonary hypertension and right ventricular dysfunction during prolonged hypoxia
Brusselmans, K., Compernolle, V., Tjwa, M., Wiesener, M. S., Maxwell, P. H., Collen, D., & Carmeliet, P. (2003) · Journal of Clinical Investigation · doi:10.1172/jci15496 · Cited by 315
A Gain-of-Function Mutation in the HIF2A Gene in Familial Erythrocytosis
Percy, M. J., Furlow, P. W., Lucas, G. S., Li, X., Lappin, T. R. J., McMullin, M. F., & Lee, F. S. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa073123 · Cited by 314
Mutation of von Hippel–Lindau Tumour Suppressor and Human Cardiopulmonary Physiology
Smith, T. G., Brooks, J. T., Balanos, G. M., Lappin, T. R., Layton, D. M., Leedham, D. L., Liu, C., Maxwell, P. H., McMullin, M. F., McNamara, C. J., et al. (2006) · PLoS Medicine · doi:10.1371/journal.pmed.0030290 · Cited by 182
von Hippel–Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2α signaling and splenic erythropoiesis
Hickey, M. M., Lam, J. C., Bezman, N. A., Rathmell, W. K., & Simon, M. C. (2007) · Journal of Clinical Investigation · doi:10.1172/jci32614 · Cited by 110
Endothelin-1, vascular endothelial growth factor and systolic pulmonary artery pressure in patients with Chuvash polycythemia.
Bushuev, V. I., Miasnikova, G., Sergueeva, A., Polyakova, L. A., Okhotin, D. J., Gaskin, P. R. A., Debebe, Z., Nekhai, S. A., Castro, O. L., Prchal, J. T., et al. (2006) · PubMed · Cited by 76
Familial Erythrocytosis
Howarth, C., Chanarin, I., Janowska‐Wieczorek, A., & Napier, J. A. F. (1979) · Scandinavian Journal of Haematology · doi:10.1111/j.1600-0609.1979.tb02694.x · Cited by 6

Show all 11 references

Sorted by citations

Items 101–155 of 155

A novel biological function of soluble biglycan: Induction of erythropoietin production and polycythemia
Frey, H., Moreth, K., Hsieh, L. T.-H., Zeng-Brouwers, J., Rathkolb, B., Fuchs, H., Gailus‐Durner, V., Iozzo, R. V., de Angelis, M. H., & Schaefer, L. (2016) · Glycoconjugate Journal · doi:10.1007/s10719-016-9722-y · Cited by 21
Genetic Background of Congenital Erythrocytosis
McMullin, M. F. (2021) · Genes · doi:10.3390/genes12081151 · Cited by 24
Discovery of a murine model of clinical PAH: Mission impossible?
Dai, Z., & Zhao, Y. (2016) · Trends in Cardiovascular Medicine · doi:10.1016/j.tcm.2016.12.003 · Cited by 19
Gene expression profiling of postnatal lung development in the marsupial gray short-tailed opossum (Monodelphis domestica) highlights conserved developmental pathways and specific characteristics during lung organogenesis
Modepalli, V., Kumar, A., Sharp, J. A., Saunders, N. R., Nicholas, K. R., & Lefèvre, C. M. (2018) · BMC Genomics · doi:10.1186/s12864-018-5102-2 · Cited by 17
High-Altitude Andean H194R HIF2A Allele Is a Hypomorphic Allele
Jorgensen, K. C., Song, D., Weinstein, J. B., Garcia, O. A., Pearson, L. N., Inclán, M., Rivera, M. C., Lèon‐Velarde, F., Kiyamu, M., Brutsaert, T. D., et al. (2023) · Molecular Biology and Evolution · doi:10.1093/molbev/msad162 · Cited by 18
New perspectives on the molecular basis of the interaction between oxygen homeostasis and iron metabolism
Cairo, G., Recalcati, S., & Gammella, E. (2015) · Hypoxia · doi:10.2147/hp.s83537 · Cited by 17
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis
Karaghiannis, V., Maric, D., Garrec, C., Maaziz, N., Buffet, A., Schmitt, L., Antunes, V., Airaud, F., Aral, B., Roy, A. L., et al. (2023) · Haematologica · doi:10.3324/haematol.2022.281698 · Cited by 17
Genetic variability of hypoxia‐inducible factor alpha (HIFA) genes in familial erythrocytosis: Analysis of the literature and genome databases
Kristan, A., Debeljak, N., & Kunej, T. (2019) · European Journal Of Haematology · doi:10.1111/ejh.13304 · Cited by 14
Structural basis for binding of the renal carcinoma target hypoxia‐inducible factor 2α to prolyl hydroxylase domain 2
Figg, W. D., Fiorini, G., Chowdhury, R., Nakashima, Y., Tumber, A., McDonough, M. A., & Schofield, C. J. (2023) · Proteins Structure Function and Bioinformatics · doi:10.1002/prot.26541 · Cited by 15
Hypoxia Inducible Factor-2 Alpha and Prolinhydroxylase 2 Polymorphisms in Patients with Acute Respiratory Distress Syndrome (ARDS)
Dötsch, A., Eisele, L., Rabeling, M., Rump, K., Walstein, K., Bick, A., Cox, L., Engler, A., Bachmann, H. S., Jöckel, K., et al. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18061266 · Cited by 14
Renoprotective Role of Hypoxia-Inducible Factors and the Mechanism
Li, Q., Liu, F., Xiaoxiao, T., Fu, H., & Mao, J. (2021) · Kidney Diseases · doi:10.1159/000520141 · Cited by 14
Deficiency in PHD2-mediated hydroxylation of HIF2α underlies Pacak-Zhuang syndrome
Ferens, F. G., Taber, C. C., Stuart, S. E., Hubert, M., Tarade, D., Lee, J. E., & Ohh, M. (2024) · Communications Biology · doi:10.1038/s42003-024-05904-4 · Cited by 14
Prolyl-hydroxylase inhibitors for the treatment of anemia in chronic kidney disease
McMahon, G. M., & Singh, A. K. (2019) · Current Opinion in Nephrology & Hypertension · doi:10.1097/mnh.0000000000000554 · Cited by 12
Diagnosis Evaluation and Interpretation of Qualitative Abnormalities in Peripheral Blood Smear Images—A Review
Devi, K. S., Arutperumjothi, G., & Srinivasan, P. (2021) · Studies in computational intelligence · doi:10.1007/978-981-15-9735-0_17 · Cited by 12
Hypoxia-Inducible Factor 2-Alpha Mediated Gene Sets Differentiate Pulmonary Arterial Hypertension
Zhu, J., Zhao, L., Hu, Y., Cui, G., Luo, A., Bao, C., Han, Y., Zhou, T., Lu, W., Wang, J., et al. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.701247 · Cited by 12
Distinct Responses to Hypoxia in Subpopulations of Distal Pulmonary Artery Cells Contribute to Pulmonary Vascular Remodeling in Emphysema
Howard, L., Crosby, A., Vaughan, P., Sobolewski, A., Southwood, M. R., Foster, M., Chilvers, E. R., & Morrell, N. W. (2012) · Pulmonary Circulation · doi:10.4103/2045-8932.97616 · Cited by 12
Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis
Kristan, A., Pajič, T., Maver, A., Režen, T., Kunej, T., Količ, R., Vuga, A., Fink, M., Žula, Š., Podgornik, H., et al. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.689868 · Cited by 11
Belzutifan-Associated Hypoxia: A Review of the Novel Therapeutic, Proposed Mechanisms of Hypoxia, and Management Recommendations
Kucharczyk, J. R., Bhatt, A., Bauer, L., & Economides, M. P. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26157094 · Cited by 13
Transcription factors in the pathogenesis of pulmonary arterial hypertension—Current knowledge and therapeutic potential
Körbelin, J., Klein, J., Matuszcak, C., Runge, J., Harbaum, L., Klose, H. F. E., & Hennigs, J. K. (2023) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2022.1036096 · Cited by 8
Identification of non-coding genetic variants in samples from hypoxemic respiratory disease patients that affect the transcriptional response to hypoxia
Roche, O., Deguiz, M. L., Tiana, M., Galiana, C., Martinez-Alcazar, D., Rey, C., Ranz-Ribeiro, B., Casitas, R., Galera, R., Fernández-Navarro, I., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw811 · Cited by 10
Hypoxia and Pulmonary Hypertension
Charolidi, N., & Carroll, V. A. (2017) · InTech eBooks · doi:10.5772/67151 · Cited by 9
Cardiopulmonary phenotype associated with humanPHD2mutation
Talbot, N. P., Smith, T. G., Balanos, G. M., Dorrington, K. L., Maxwell, P. H., & Robbins, P. A. (2017) · Physiological Reports · doi:10.14814/phy2.13224 · Cited by 10
EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis
Alaikov, T., Ivanova, M., & Shivarov, V. S. (2016) · Hematology · doi:10.1080/10245332.2016.1192394 · Cited by 9
Pulmonary Vascular and Ventricular Dysfunction in the Susceptible Patient (2015 Grover Conference Series)
Maron, B. A., Machado, R. F., & Shimoda, L. A. (2016) · Pulmonary Circulation · doi:10.1086/688315 · Cited by 8
A Review of Transcriptome Analysis in Pulmonary Vascular Diseases
Fraidenburg, D. R., & Machado, R. F. (2018) · Methods in molecular biology · doi:10.1007/978-1-4939-7834-2_13 · Cited by 9
Heritable disorders of oxygen sensing
Semenza, G. L. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62250 · Cited by 7
Heritable disorders of oxygen sensing
Semenza, G. L. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62521 · Cited by 7
‘Hypoxio-spondin’: thrombospondin and its emerging role in pulmonary hypertension
Shimoda, L. A., & Kuebler, W. M. (2015) · Cardiovascular Research · doi:10.1093/cvr/cvv258 · Cited by 6
A hypothesis: Potential contributions of metals to the pathogenesis of pulmonary artery hypertension
Hopkins, C. D., Wessel, C. R., Chen, O., El‐Kersh, K., Cathey, D., Cave, M. C., Cai, L., & Huang, J. (2023) · Life Sciences · doi:10.1016/j.lfs.2023.122289 · Cited by 5
Endothelial cell clonality, heterogeneity and dysfunction in pulmonary arterial hypertension
Newcomb, G., & Farkas, L. (2023) · Frontiers in Medicine · doi:10.3389/fmed.2023.1304766 · Cited by 5
Genotypes identified by genome-wide association analyses influence yearling pulmonary arterial pressure and growth traits in Angus heifers from a high-altitude beef production system
Cockrum, R., Speidel, S. E., Crawford, N. F., Zeng, X., Blackburn, H. D., Holt, T. N., Enns, R. M., & Thomas, M. G. (2019) · Livestock Science · doi:10.1016/j.livsci.2019.04.004 · Cited by 5
Clinical Year in Review II: Mechanical Ventilation, Acute Respiratory Distress Syndrome, Critical Care, and Lung Cancer
Wilcox, M. E., Rivera, M. P., Sassoon, C. S. H., Ware, L. B., Wunsch, H., & Herridge, M. S. (2012) · Proceedings of the American Thoracic Society · doi:10.1513/pats.201206-033tt · Cited by 5
Integrated proteomic and metabolomic profiling of urine of renal anemia patients uncovers the molecular mechanisms of roxadustat
You, X., Guo, B., Wang, Z., Ma, H., Liu, L., Zhou, R., Zheng, Y., & Zhang, X. (2023) · Molecular Omics · doi:10.1039/d3mo00015j · Cited by 4
Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen‐sensing pathway from primary familial and congenital polycythaemia
Sochorcova, L., Kapralova, K., Kučerová, J., Pospı́šilová, D., Procházková, D., Jahoda, O., Kureková, S., Králová, B., Divoká, M., Navrátilová, J., et al. (2023) · British Journal of Haematology · doi:10.1111/bjh.18891 · Cited by 4
JAK2 wild-type erythrocytosis: concept, differential diagnosis, diagnostic steps, and treatment approaches
Szuber, N., Tefferi, A., & Gangat, N. (2025) · Hematology · doi:10.1182/hematology.2025000704 · Cited by 3
Hypoxia-inducible factor prolyl 4-hydroxylase-2 in Tibetan high-altitude adaptation, extramedullary erythropoiesis and skeletal muscle ischemia
Myllymäki, M. (2016) · Cited by 3
Glycolysis in pulmonary arterial hypertension and metabolic reprogramming
Vasconcelos, I., Pérez‐Vizcaíno, F., Leite-Moreira, A. F., Brás‐Silva, C., & Adão, R. (2023) · Elsevier eBooks · doi:10.1016/b978-0-323-91704-9.00008-2 · Cited by 3
Endothelial PHD2 deficiency induces apoptosis resistance and inflammation via AKT activation and AIP1 loss independent of HIF2α
Wang, S., Awad, K. S., Chen, L., Siddique, M. A. H., Ferreyra, G. A., Wang, C. L., Joseph, T., Yu, Z., Takeda, K., Demirkale, C. Y., et al. (2024) · American Journal of Physiology-Lung Cellular and Molecular Physiology · doi:10.1152/ajplung.00077.2024 · Cited by 3
CD137 Signaling Mediates Pulmonary Artery Endothelial Cell Proliferation Under Hypoxia By Regulating Mitochondrial Dynamics
Xia, H., Duan, J., Li, M., Chen, N., Zhong, W. H., Ye, Z., Chen, R., & Yuan, W. (2024) · Journal of Cardiovascular Translational Research · doi:10.1007/s12265-024-10493-y · Cited by 3
Influence of Hypoxia on the Airway Epithelium
Procházková, K., & Uhlík, J. (2024) · Physiological Research · doi:10.33549/physiolres.935436 · Cited by 4
Benefits and Risks of Manipulating the HIF Hydroxylase Pathway in Ischemic Heart Disease
Bishop, T., & Ratcliffe, P. J. (2011) · Springer eBooks · doi:10.1007/978-0-85729-920-8_2 · Cited by 3
Hematopoiesis and the Kidney
Kurtz, A., Wenger, R. H., & Eckardt, K. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-381462-3.00092-6 · Cited by 2
Vascular stiffening in aging females with a hypertension‐induced HIF2A gain‐of‐function mutation
Volkova, E., Procell, L., Kong, L., Santhanam, L., & Gerecht, S. (2022) · Bioengineering & Translational Medicine · doi:10.1002/btm2.10403 · Cited by 1
HIF-1α is Associated with Improved Survival in ARDS due to COVID-19: A Prospective StudyPreprint
Sipahioğlu, H., Koyuncu, S., Akalın, H., Karasu, N., Sipahioğlu, M. H., EREN, E. E., Onuk, S., Elay, G., Saatçı, Ç., Yüksel, R. C., et al. (2024) · Research Square · doi:10.21203/rs.3.rs-3866016/v1 · Cited by 1
EPAS1 (Endothelial PAS Domain Protein 1)
Mohlin, S., Hamidian, A., Bexell, D., Påhlman, S., & Wigerup, C. (2014) · Atlas of Genetics and Cytogenetics in Oncology and Haematology · doi:10.4267/2042/54007
Clinical Year in Review I: Interstitial Lung Disease, Pulmonary Vascular Disease and Venous Thromboembolism, Diagnostic Imaging, and Lung Cancer
Schmidt, S. L., & Flaherty, K. R. (2010) · Proceedings of the American Thoracic Society · doi:10.1513/pats.201007-053tt
Regulation of Cellular Oxygen Sensing Pathways by VHL
Heir, P. (2015) · TSpace (University of Toronto)
Current and Novel Drugs for Management of Anemia
Saikumar, J. H., & Kovesdy, C. P. (2017) · Springer eBooks · doi:10.1007/978-1-4939-7360-6_5
Novel and Relevant Mechanistic Pathways
Wilkins, M. R., & Rabinovitch, M. (2020) · Advances in Pulmonary Hypertension · doi:10.21693/1933-088x-19.2.42
Full Issue PDF
(2020) · Advances in Pulmonary Hypertension · doi:10.21693/1933-088x-19.2.i
Faculty Opinions recommendation of Hypoxia-Inducible Factor and Its Role in the Management of Anemia in Chronic Kidney Disease.
Weiss, M. J. (2020) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.732587239.793577754
On either side of homeostasis: EPAS1 gain- and loss-offunction mutations
Prchal, J. T., & Semenza, G. L. (2023) · Haematologica · doi:10.3324/haematol.2023.283285
Effect of Smoking on Hematological Parameters in Patients with Polycythemia and Comparing Them with Healthy People
Ahmed, A. S., Abdullah, A. K., & Mahmood, A. T. (2024) · European Journal of Medical and Health Research · doi:10.59324/ejmhr.2024.2(5).35
HIF-1α is Associated with Improved Survival in Acute Respiratory Distress Syndrome due to COVID-19: A Prospective Study
Sipahioğlu, H., Koyuncu, S., Akalın, H., Karasu, N., SİPAHİOĞLU, M., Eren, E., Onuk, S., Elay, G., Saatçı, Ç., Yüksel, R. C., et al. (2026) · Nigerian Journal of Clinical Practice · doi:10.4103/njcp.njcp_72_25 · Cited by 2
Variants of Epas1 contribute to hypoxia adaptation in the subterranean rodents Eospalax and Spalax
Cao, Y.-B., Zhang, M., Li, X., Yu, T., Li, Y., Wang, H., Liu, M., Xu, X., Xia, F., Li, K., et al. (2026) · Life Science Alliance · doi:10.26508/lsa.202603622

Authors: Gale, D. P., Harten, S. K., Reid, C. D. L., Tuddenham, E. G. D., & Maxwell, P. H.
ORCID: Gale, Daniel P.
Tuddenham, Edward G. D.
Maxwell, Patrick H.
Venue: Blood
Publisher: American Society of Hematology
Published: 2008-08-01
Volume: 112
Issue: 3
Pages: 919-921
ISSN: 0006-4971 (ISSN-L)
1528-0020
DOI: 10.1182/blood-2008-04-153718
OpenAlex: W2074813003
Cited by: 157
References: 11
Citations by year: 2026: 2 · 2025: 3 · 2024: 6 · 2023: 13 · 2022: 4 · 2021: 15 · 2020: 6 · 2019: 11 · 2018: 11 · 2017: 10 · 2016: 19 · 2015: 10 · 2014: 9 · 2013: 10 · 2012: 4
FWCI: 4.98
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Blood (publishedVersion)
PubMed (publishedVersion)
UCL Discovery (University College London) (submittedVersion)
Funders: National Institute for Health and Care Research (NF-SI-0507-10315)
British Heart Foundation
Topics: Health Sciences › Medicine › Hematology › Erythropoietin and Anemia Treatment
Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Pulmonary Hypertension Research and Treatments
Health Sciences › Medicine › Hematology › Myeloproliferative Neoplasms: Diagnosis and Treatment
Keywords: pulmonary arterial hypertension, erythropoietin, hypoxia-inducible factor, VHL, erythrocytosis
MeSH terms: Endothelial PAS Domain-Containing Protein 1, Adolescent, Adult, Aged, Humans, Hypertension, Pulmonary, Middle Aged, Mutation, Polycythemia, Basic Helix-Loop-Helix Proteins

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2α mutation

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks