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View article: Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up
Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up Open
View article: AVALIAÇÃO CLÍNICA E MOLECULAR DE PACIENTES COM ERITROCITOSE
AVALIAÇÃO CLÍNICA E MOLECULAR DE PACIENTES COM ERITROCITOSE Open
A eritrocitose é caracterizada por aumento da massa eritrocitária, com níveis elevados de hematócrito e/ou de hemoglobina. A eritrocitose, na maioria dos casos, é adquirida, enquanto a forma congênita é rara. A Policitemia Vera (PV) é uma …
View article: Olympic Games: When the haematocrit does not fit, the athlete is not always a cheat
Olympic Games: When the haematocrit does not fit, the athlete is not always a cheat Open
International audience
View article: Benefit of phlebotomy and low-dose aspirin in the prevention of vascular events in patients with <i>EPOR</i> primary familial polycythemia on the island of New Caledonia
Benefit of phlebotomy and low-dose aspirin in the prevention of vascular events in patients with <i>EPOR</i> primary familial polycythemia on the island of New Caledonia Open
Not available.
View article: Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries Open
Background The von Hippel-Lindau (VHL) disease is a hereditary tumour syndrome caused by germline mutations in VHL tumour suppressor gene. The identification of VHL variants requires accurate classification which has an impact on patient m…
View article: PB2165: THE CO-REBREATHING METHOD IS A RELIABLE TEST IN DETERMINING THE RED CELL MASS: THE OLD POTS MAKE THE BEST SOUPS.
PB2165: THE CO-REBREATHING METHOD IS A RELIABLE TEST IN DETERMINING THE RED CELL MASS: THE OLD POTS MAKE THE BEST SOUPS. Open
Topic: 15. Myeloproliferative neoplasms - Biology & Translational Research Background: The definition of polycythemia, whether primary or secondary, is based on direct measurement of red cell mass (RCM) by isotope labelling method. Because…
View article: Characterization of genetic variants in the <i>EGLN1/PHD2</i> gene identified in a European collection of patients with erythrocytosis
Characterization of genetic variants in the <i>EGLN1/PHD2</i> gene identified in a European collection of patients with erythrocytosis Open
Hereditary erythrocytosis is a rare hematologic disorder characterized by an excess of red blood cell production. Here we describe a European collaborative study involving a collection of 2,160 patients with erythrocytosis sequenced in ten…
View article: Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?
Germline JAK2 E846D Substitution as the Cause of Erythrocytosis? Open
The discovery in 2005 of the JAK2 V617F gain-of-function mutation in myeloproliferative neoplasms and more particularly in polycythemia vera has deeply changed the diagnostic and therapeutic approaches to polycythemia. More recently, the u…
View article: Supplementary Tables 1 - 7 and Figures 1 - 3 from Genetic Evidence of a Precisely Tuned Dysregulation in the Hypoxia Signaling Pathway during Oncogenesis
Supplementary Tables 1 - 7 and Figures 1 - 3 from Genetic Evidence of a Precisely Tuned Dysregulation in the Hypoxia Signaling Pathway during Oncogenesis Open
Table S1: Phenotypes associated with single R161Q and R200W VHL germline mutations are different from the phenotype associated with the combined mutations. Table S2: VHL mutations associated with polycythemia are different from the VHL mut…
View article: Supplemental video 2 from ITPR1 Protects Renal Cancer Cells against Natural Killer Cells by Inducing Autophagy
Supplemental video 2 from ITPR1 Protects Renal Cancer Cells against Natural Killer Cells by Inducing Autophagy Open
Supplemental video 2. 786-0 cells described in Figure 3B were recorded by time-lapse video microscopy
View article: Supplemental video 1 from ITPR1 Protects Renal Cancer Cells against Natural Killer Cells by Inducing Autophagy
Supplemental video 1 from ITPR1 Protects Renal Cancer Cells against Natural Killer Cells by Inducing Autophagy Open
Supplemental video 1. 786-0 cells described in Figure 3B were recorded by time-lapse video microscopy
View article: Supplementary Data from Genetic Evidence of a Precisely Tuned Dysregulation in the Hypoxia Signaling Pathway during Oncogenesis
Supplementary Data from Genetic Evidence of a Precisely Tuned Dysregulation in the Hypoxia Signaling Pathway during Oncogenesis Open
Supplementary Material and Methods and Legend of Supplementary Tables and Figures
View article: Supplementary Figures S1-S5 from ITPR1 Protects Renal Cancer Cells against Natural Killer Cells by Inducing Autophagy
Supplementary Figures S1-S5 from ITPR1 Protects Renal Cancer Cells against Natural Killer Cells by Inducing Autophagy Open
Supplementary Figures S1-S5. Figure S1. Differential susceptibility of 786-0, PRC3, and WT7 cell lines to NK-mediated lysis. Figure S2. Role of ANGPTL4 and ADM in RCC cell susceptibility to NK-mediated lysis. Figure S3. VHL and NK ligand e…
View article: Supplemental video 2 from ITPR1 Protects Renal Cancer Cells against Natural Killer Cells by Inducing Autophagy
Supplemental video 2 from ITPR1 Protects Renal Cancer Cells against Natural Killer Cells by Inducing Autophagy Open
Supplemental video 2. 786-0 cells described in Figure 3B were recorded by time-lapse video microscopy
View article: Data from Genetic Evidence of a Precisely Tuned Dysregulation in the Hypoxia Signaling Pathway during Oncogenesis
Data from Genetic Evidence of a Precisely Tuned Dysregulation in the Hypoxia Signaling Pathway during Oncogenesis Open
The classic model of tumor suppression implies that malignant transformation requires full “two-hit” inactivation of a tumor-suppressor gene. However, more recent work in mice has led to the proposal of a “continuum” model that involves mo…
View article: Data from ITPR1 Protects Renal Cancer Cells against Natural Killer Cells by Inducing Autophagy
Data from ITPR1 Protects Renal Cancer Cells against Natural Killer Cells by Inducing Autophagy Open
Clear cell renal cell carcinomas (RCC) frequently display inactivation of von Hippel-Lindau (VHL) gene leading to increased level of hypoxia-inducible factors (HIF). In this study, we investigated the potential role of HIF2α in regulating …
View article: Data from Genetic Evidence of a Precisely Tuned Dysregulation in the Hypoxia Signaling Pathway during Oncogenesis
Data from Genetic Evidence of a Precisely Tuned Dysregulation in the Hypoxia Signaling Pathway during Oncogenesis Open
The classic model of tumor suppression implies that malignant transformation requires full “two-hit” inactivation of a tumor-suppressor gene. However, more recent work in mice has led to the proposal of a “continuum” model that involves mo…
View article: Supplementary Tables 1 - 7 and Figures 1 - 3 from Genetic Evidence of a Precisely Tuned Dysregulation in the Hypoxia Signaling Pathway during Oncogenesis
Supplementary Tables 1 - 7 and Figures 1 - 3 from Genetic Evidence of a Precisely Tuned Dysregulation in the Hypoxia Signaling Pathway during Oncogenesis Open
Table S1: Phenotypes associated with single R161Q and R200W VHL germline mutations are different from the phenotype associated with the combined mutations. Table S2: VHL mutations associated with polycythemia are different from the VHL mut…
View article: Data from ITPR1 Protects Renal Cancer Cells against Natural Killer Cells by Inducing Autophagy
Data from ITPR1 Protects Renal Cancer Cells against Natural Killer Cells by Inducing Autophagy Open
Clear cell renal cell carcinomas (RCC) frequently display inactivation of von Hippel-Lindau (VHL) gene leading to increased level of hypoxia-inducible factors (HIF). In this study, we investigated the potential role of HIF2α in regulating …
View article: Supplementary Data from Genetic Evidence of a Precisely Tuned Dysregulation in the Hypoxia Signaling Pathway during Oncogenesis
Supplementary Data from Genetic Evidence of a Precisely Tuned Dysregulation in the Hypoxia Signaling Pathway during Oncogenesis Open
Supplementary Material and Methods and Legend of Supplementary Tables and Figures
View article: Supplementary Figures S1-S5 from ITPR1 Protects Renal Cancer Cells against Natural Killer Cells by Inducing Autophagy
Supplementary Figures S1-S5 from ITPR1 Protects Renal Cancer Cells against Natural Killer Cells by Inducing Autophagy Open
Supplementary Figures S1-S5. Figure S1. Differential susceptibility of 786-0, PRC3, and WT7 cell lines to NK-mediated lysis. Figure S2. Role of ANGPTL4 and ADM in RCC cell susceptibility to NK-mediated lysis. Figure S3. VHL and NK ligand e…
View article: Supplemental video 1 from ITPR1 Protects Renal Cancer Cells against Natural Killer Cells by Inducing Autophagy
Supplemental video 1 from ITPR1 Protects Renal Cancer Cells against Natural Killer Cells by Inducing Autophagy Open
Supplemental video 1. 786-0 cells described in Figure 3B were recorded by time-lapse video microscopy
View article: Comprehensive <i>in silico</i> and functional studies for classification of <i>EPAS1/HIF2A</i> genetic variants identified in patients with erythrocytosis
Comprehensive <i>in silico</i> and functional studies for classification of <i>EPAS1/HIF2A</i> genetic variants identified in patients with erythrocytosis Open
Gain-of-function mutations in the EPAS1/HIF2A gene have been identified in patients with hereditary erythrocytosis that can be associated with the development of paraganglioma, pheochromocytoma and somatostatinoma. In the present study, we…
View article: Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review
Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review Open
Summary Erythrocytosis is associated with increased red blood cell mass and can be either congenital or acquired. Congenital secondary causes are rare and include germline variants increasing haemoglobin (Hb)‐oxygen affinity (e.g., Hb or b…
View article: Mutation of the proline P81 into a serine modifies the tumour suppressor function of the von Hippel–Lindau gene in the ccRCC
Mutation of the proline P81 into a serine modifies the tumour suppressor function of the von Hippel–Lindau gene in the ccRCC Open
View article: FACS-assisted CRISPR-Cas9 genome editing of human induced pluripotent stem cells
FACS-assisted CRISPR-Cas9 genome editing of human induced pluripotent stem cells Open
View article: P1065: CONGENITAL ERYTHROCYTOSIS DUE TO HETEROZYGOUS VARIANTS IN THE BISPHOSPHOGLYCERATE MUTASE GENE
P1065: CONGENITAL ERYTHROCYTOSIS DUE TO HETEROZYGOUS VARIANTS IN THE BISPHOSPHOGLYCERATE MUTASE GENE Open
Background: Congenital erythrocytosis is an inherited condition characterized by increased red blood cell mass, reflected by persistently elevated hemoglobin (Hb) and hematocrit levels. Erythrocytosis can be primary due to an intrinsic def…
View article: Importance of Sequencing HBA1, HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin
Importance of Sequencing HBA1, HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin Open
High oxygen affinity hemoglobin (HOAH) is the main cause of constitutional erythrocytosis. Mutations in the genes coding the alpha and beta globin chains (HBA1, HBA2 and HBB) strengthen the binding of oxygen to hemoglobin (Hb), bringing ab…
View article: Involvement of PBRM1 in VHL disease‑associated clear cell renal cell carcinoma and its putative relationship with the HIF pathway
Involvement of PBRM1 in VHL disease‑associated clear cell renal cell carcinoma and its putative relationship with the HIF pathway Open
Von Hippel-Lindau (VHL) disease is the main cause of inherited clear-cell renal cell carcinoma (ccRCC) and is caused by germline mutations in the VHL tumor suppressor gene. Bi-allelic VHL alterations lead to inactivation of p…
View article: Increased incidence of germline <i>PIEZO1</i> mutations in individuals with idiopathic erythrocytosis
Increased incidence of germline <i>PIEZO1</i> mutations in individuals with idiopathic erythrocytosis Open
International audience