A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis.
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Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutationNatural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlandersHIF prolyl hydroxylase inhibitors for anemiaThe role of PHD2 mutations in the pathogenesis of erythrocytosis.Advances in understanding the pathogenesis of primary familial and congenital polycythaemiaErythrocytosis associated with a novel missense mutation in the HIF2A gene.Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemiaTwo new mutations in the HIF2A gene associated with erythrocytosis.The Local HIF-2α/EPO Pathway in the Bone Marrow is Associated with Excessive Erythrocytosis and the Increase in Bone Marrow Microvessel Density in Chronic Mountain Sickness.Erythrocytosis and pulmonary hypertension in a mouse model of human HIF2A gain of function mutationDifferential regulation of pulmonary vascular cell growth by hypoxia-inducible transcription factor-1α and hypoxia-inducible transcription factor-2α.Regulation of erythropoiesis by hypoxia-inducible factorsCongenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.The Growth Pattern of Tibetan Infants at High Altitudes: a Cohort Study in Rural Tibet region.Two distinct roles for EGL-9 in the regulation of HIF-1-mediated gene expression in Caenorhabditis elegans.Prolyl hydroxylase domain-containing protein inhibitors as stabilizers of hypoxia-inducible factor: small molecule-based therapeutics for anemia.HIF pathway mutations and erythrocytosis.Inherited predisposition to myeloproliferative neoplasmsHypoxia-Inducible Factor Stabilizers: a New Avenue for Reducing BP While Helping Hemoglobin?Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome.Uncommon BRAF mutations in the follicular variant of thyroid papillary carcinoma: New insights.Analysis of immunocytochemical and molecular BRAF expression in thyroid carcinomas: a cytohistologic institutional experience.Genetic basis of congenital erythrocytosis: mutation update and online databases.EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis.Hypoxia-Inducible Factor and Its Role in the Management of Anemia in Chronic Kidney Disease.Noninvasive follicular thyroid neoplasm with papillary-like nuclear features in the pediatric age group.Thyroglossal duct cyst cancer most likely arises from a thyroid gland remnant.Morphological features that can predict BRAFV600E -mutated carcinoma in paediatric thyroid cytology.Morphological parameters able to predict BRAF(V600E) -mutated malignancies on thyroid fine-needle aspiration cytology: Our institutional experience.Young investigator challenge: The morphologic analysis of noninvasive follicular thyroid neoplasm with papillary-like nuclear features on liquid-based cytology: Some insights into their identification.BRAF (V600E) mutation analysis on liquid-based cytology-processed aspiration biopsies predicts bilaterality and lymph node involvement in papillary thyroid microcarcinoma.Unilateral digital arterial ligation combined with low molecular weight heparins in severed finger without venous anastomosis.HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease
P2860
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P2860
A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
A novel heterozygous HIF2AM535 ...... is of familial erythrocytosis.
@en
A novel heterozygous HIF2AM535 ...... is of familial erythrocytosis.
@nl
type
label
A novel heterozygous HIF2AM535 ...... is of familial erythrocytosis.
@en
A novel heterozygous HIF2AM535 ...... is of familial erythrocytosis.
@nl
prefLabel
A novel heterozygous HIF2AM535 ...... is of familial erythrocytosis.
@en
A novel heterozygous HIF2AM535 ...... is of familial erythrocytosis.
@nl
P2093
P50
P356
P1433
P1476
A novel heterozygous HIF2AM535 ...... sis of familial erythrocytosis
@en
P2093
Fiorina Giona
Lorenza Torti
Luigi Maria Larocca
Massimiliano Rea
P304
P356
10.3324/HAEMATOL.13210
P577
2008-05-27T00:00:00Z