Lista de obras - Patrick H. Maxwell - Dominio Público Uruguay

A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis

artículo científico publicado en 2006

A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population

artículo científico publicado en 2017

A new approach to treating renal anaemia

artículo científico publicado en 2019

A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen

artículo científico publicado en 2016

Abnormal sympathoadrenal development and systemic hypotension in PHD3-/- mice

scientific journal article

Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts tropism and fusogenicity

Association of MEGSIN 2093C-2180T haplotype at the 3' untranslated region with disease severity and progression of IgA nephropathy

artículo científico publicado en 2006

C3 glomerulonephritis and CFHR5 nephropathy

artículo científico publicado en 2012

Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation

artículo científico publicado en 2011

Cardiopulmonary phenotype associated with human PHD2 mutation

artículo científico publicado en 2017

Cell transcriptomic atlas of the non-human primate Macaca fascicularis

artículo científico publicado en 2022

Cezanne regulates inflammatory responses to hypoxia in endothelial cells by targeting TRAF6 for deubiquitination.

artículo científico publicado en 2013

Combinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies.

artículo científico publicado en 2015

Complement C1q is hydroxylated by collagen prolyl 4 hydroxylase and is sensitive to off-target inhibition by prolyl hydroxylase domain inhibitors that stabilize hypoxia-inducible factor

artículo científico publicado en 2017

Correction of severe anaemia using immuno-regulated gene therapy is achieved by restoring the early erythroblast compartment

artículo científico publicado en 2006

Deficiency or inhibition of oxygen sensor Phd1 induces hypoxia tolerance by reprogramming basal metabolism

artículo científico publicado en 2008

Deletion of the von Hippel-Lindau gene in pancreatic beta cells impairs glucose homeostasis in mice.

scientific article published on 08 December 2008

Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations

artículo científico publicado en 2016

Dialysis Survivors: Clinical Status of Patients on Treatment for More than 10 Years

scholarly article by Damien Ashby et al published 2008 in Nephron Clinical Practice

Differentiation in Neuroblastoma: Diffusion-Limited Hypoxia Induces Neuro-Endocrine Secretory Protein 55 and Other Markers of a Chromaffin Phenotype ⬇️

artículo científico publicado el 17 de septiembre de 2010

Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families

artículo científico publicado en 2005

Dynamic regulation of hypoxia-inducible factor-1α activity is essential for normal B cell development

artículo científico publicado en 2020

Early loss of Crebbp confers malignant stem cell properties on lymphoid progenitors.

artículo científico publicado en 2017

Epididymal cystadenomas and epithelial tumourlets: effects of VHL deficiency on the human epididymis

artículo científico publicado en 2006

Epistatic role of the MYH9/APOL1 region on familial hematuria genes

artículo científico publicado en 2013

Erratum: Corrigendum: Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition

artículo científico publicado en 2016

Erythropoietin gene expression in renal carcinoma is considerably more frequent than paraneoplastic polycythemia

artículo científico publicado en 2007

Evidence for a lack of a direct transcriptional suppression of the iron regulatory peptide hepcidin by hypoxia-inducible factors

artículo científico publicado en 2009

Evolution of VHL tumourigenesis in nerve root tissue

artículo científico publicado en 2006

Expression of Hypoxia-Inducible Factors in Normal Human Lung Development

article

Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees

artículo científico publicado en 2011

Family-based association study showing that immunoglobulin A nephropathy is associated with the polymorphisms 2093C and 2180T in the 3' untranslated region of the Megsin gene

artículo científico publicado en 2004

Formation of primary cilia in the renal epithelium is regulated by the von Hippel-Lindau tumor suppressor protein

artículo científico publicado en 2006

Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition

artículo científico publicado en 2016

Fumarylacetoacetate Hydrolase Knock-out Rabbit Model for Hereditary Tyrosinemia Type 1.

artículo científico publicado en 2017

Gene array of VHL mutation and hypoxia shows novel hypoxia-induced genes and that cyclin D1 is a VHL target gene

artículo científico publicado en 2004

Genetic evidence for a tumor suppressor role of HIF-2alpha.

artículo científico publicado en 2005

Genetic insights into the hypoxia-inducible factor (HIF) pathway

artículo científico publicado en 2007

Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels

artículo científico publicado en 2009

HIF prolyl hydroxylase inhibitors for the treatment of renal anaemia and beyond

artículo científico publicado en 2015

HIF prolyl hydroxylases in the rat; organ distribution and changes in expression following hypoxia and coronary artery ligation.

artículo científico publicado en 2006

HIF-1 reduces ischaemia-reperfusion injury in the heart by targeting the mitochondrial permeability transition pore.

artículo científico publicado en 2014

HIF-1α Promotes Glutamine-Mediated Redox Homeostasis and Glycogen-Dependent Bioenergetics to Support Postimplantation Bone Cell Survival

artículo científico publicado en 2016

HIF-1α metabolically controls collagen synthesis and modification in chondrocytes

artículo científico publicado en 2019

Heterozygous deficiency of PHD2 restores tumor oxygenation and inhibits metastasis via endothelial normalization

artículo científico publicado en 2009

Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.

artículo científico publicado en 2017

Hypoxia and B cells

artículo científico publicado en 2017

Hypoxia-induced nitric oxide production and tumour perfusion is inhibited by pegylated arginine deiminase (ADI-PEG20).

artículo científico publicado en 2016

Hypoxia-inducible factor as a physiological regulator

artículo científico publicado en 2005

INACTIVATION OF THE PHOSPHATASE AND TENSIN HOMOLOG (PTEN) TUMOR SUPPRESSOR CONTRIBUTES TO TUMOR CHARACTERISTICS OF 786-O CLEAR CELL RENAL CARCINOMA CELLS

Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis

artículo científico publicado en 2010

Inadvertent postdialysis anticoagulation due to heparin line locks

artículo científico publicado en 2007

Incidence of end-stage renal disease in the Turkish-Cypriot population of Northern Cyprus: a population based study

artículo científico publicado en 2013

Inhibition of hypoxia inducible factor hydroxylases protects against renal ischemia-reperfusion injury

artículo científico

Is it rejection? Be on the lookout for 'decoys'.

artículo científico publicado en 2005

Lack of endothelial cell survivin causes embryonic defects in angiogenesis, cardiogenesis, and neural tube closure

artículo científico publicado en 2007

Loss of PHD3 allows tumours to overcome hypoxic growth inhibition and sustain proliferation through EGFR.

artículo científico publicado en 2014

Loss or silencing of the PHD1 prolyl hydroxylase protects livers of mice against ischemia/reperfusion injury

artículo científico publicado en 2009

Manifesto for a healthy and health-creating society

artículo científico publicado en 2016

Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology

artículo científico publicado en 2006

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.

artículo científico publicado en 2017

Neutrophils from patients with heterozygous germline mutations in the von Hippel Lindau protein (pVHL) display delayed apoptosis and enhanced bacterial phagocytosis

artículo científico publicado en 2006

Novel insights into the role of the tumor suppressor von Hippel Lindau in cellular differentiation, ciliary biology, and cyst repression

scientific article published on 24 July 2009

Organ-Specific Collagen Expression: Implications for Renal Disease

Osteocytic oxygen sensing controls bone mass through epigenetic regulation of sclerostin.

artículo científico publicado en 2018

Peptide blockade of HIFalpha degradation modulates cellular metabolism and angiogenesis

artículo científico publicado en 2002

Persistent induction of HIF-1alpha and -2alpha in cardiomyocytes and stromal cells of ischemic myocardium

artículo científico publicado en 2004

Plasma hepcidin levels are elevated but responsive to erythropoietin therapy in renal disease

artículo científico publicado en 2009

Proceedings of the Oxygen Homeostasis/Hypoxia Meeting

artículo científico publicado en 2004

Progression of epididymal maldevelopment into hamartoma-like neoplasia in VHL disease.

artículo científico publicado en 2008

Prolyl hydroxylase 2 inactivation enhances glycogen storage and promotes excessive neutrophilic responses

artículo científico

Prolyl hydroxylase domain inhibitors: a route to HIF activation and neuroprotection

artículo científico publicado en 2010

Regulation of E-cadherin expression by VHL and hypoxia-inducible factor.

artículo científico publicado en 2006

Regulation of expression of the erythropoietin gene

artículo científico publicado en 1998

Regulation of renal epithelial tight junctions by the von Hippel-Lindau tumor suppressor gene involves occludin and claudin 1 and is independent of E-cadherin

artículo científico publicado en 2008

Regulation of the HIF pathway: enzymatic hydroxylation of a conserved prolyl residue in hypoxia-inducible factor alpha subunits governs capture by the pVHL E3 ubiquitin ligase complex

artículo científico publicado en 2002

Renal cell carcinoma: translational aspects of metabolism and therapeutic consequences

artículo científico publicado en 2013

Role of Gas6 in erythropoiesis and anemia in mice

scientific journal article

SP014A NOVEL COL4A1 FRAMESHIFT MUTATION AND KIDNEY DISEASE WITHOUT EXTRA-RENAL INVOLVEMENT IN A LARGE TURKISH CYPRIOT FAMILY

Snail activation disrupts tissue homeostasis and induces fibrosis in the adult kidney

scientific journal article

Statin-induced expression of CD59 on vascular endothelium in hypoxia: a potential mechanism for the anti-inflammatory actions of statins in rheumatoid arthritis

artículo científico publicado en 2006

Structural basis for the recognition of hydroxyproline in HIF-1 alpha by pVHL

artículo científico publicado en 2002

Targeted inactivation of fh1 causes proliferative renal cyst development and activation of the hypoxia pathway

scientific journal article

The A20 gene protects kidneys from ischaemia/reperfusion injury by suppressing pro-inflammatory activation

article

The HIF pathway in cancer

artículo científico publicado en 2005

The hypoxia factor Hif-1α controls neural crest chemotaxis and epithelial to mesenchymal transition

artículo científico publicado en 2013

The hypoxia response pathway and β-cell function.

artículo científico publicado en 2010

The hypoxia-inducible factor renders cancer cells more sensitive to vitamin C-induced toxicity.

artículo científico publicado en 2013

The prolyl hydroxylase enzymes that act as oxygen sensors regulating destruction of hypoxia-inducible factor alpha

artículo científico publicado en 2004

The role of HIF in immunity

artículo científico publicado en 2009

The use of dioxygen by HIF prolyl hydroxylase (PHD1)

artículo científico publicado en 2002

The von Hippel-Lindau tumor suppressor protein and Egl-9-Type proline hydroxylases regulate the large subunit of RNA polymerase II in response to oxidative stress

artículo científico publicado en 2008

Tumor necrosis factor receptor 2-signaling in CD133-expressing cells in renal clear cell carcinoma

scientific article published on 16 March 2016

Ultrahigh thermal conductivity confirmed in boron arsenide

artículo científico publicado en 2018

VHL inactivation induces HEF1 and Aurora kinase A

artículo científico publicado en 2010

VHL-Mediated Regulation of CHCHD4 and Mitochondrial Function

artículo científico publicado en 2018

Variation in IGHMBP2 is not associated with IgA nephropathy in independent studies of UK Caucasian and Chinese Han patients

article

Variations within oxygen-regulated gene expression in humans

artículo científico publicado en 2008

Xenon preconditioning protects against renal ischemic-reperfusion injury via HIF-1alpha activation

artículo científico publicado en 2009

Xenon treatment protects against cold ischemia associated delayed graft function and prolongs graft survival in rats.

scientific article published on 24 May 2013

Lista de obras de Patrick H. Maxwell

A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis

A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population

A new approach to treating renal anaemia

A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen

Abnormal sympathoadrenal development and systemic hypotension in PHD3-/- mice

Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts tropism and fusogenicity

Association of MEGSIN 2093C-2180T haplotype at the 3' untranslated region with disease severity and progression of IgA nephropathy

C3 glomerulonephritis and CFHR5 nephropathy

Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation

Cardiopulmonary phenotype associated with human PHD2 mutation

Cell transcriptomic atlas of the non-human primate Macaca fascicularis

Cezanne regulates inflammatory responses to hypoxia in endothelial cells by targeting TRAF6 for deubiquitination.

Combinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies.

Complement C1q is hydroxylated by collagen prolyl 4 hydroxylase and is sensitive to off-target inhibition by prolyl hydroxylase domain inhibitors that stabilize hypoxia-inducible factor

Correction of severe anaemia using immuno-regulated gene therapy is achieved by restoring the early erythroblast compartment

Deficiency or inhibition of oxygen sensor Phd1 induces hypoxia tolerance by reprogramming basal metabolism

Deletion of the von Hippel-Lindau gene in pancreatic beta cells impairs glucose homeostasis in mice.

Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations

Dialysis Survivors: Clinical Status of Patients on Treatment for More than 10 Years

Differentiation in Neuroblastoma: Diffusion-Limited Hypoxia Induces Neuro-Endocrine Secretory Protein 55 and Other Markers of a Chromaffin Phenotype ⬇️

Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families

Dynamic regulation of hypoxia-inducible factor-1α activity is essential for normal B cell development

Early loss of Crebbp confers malignant stem cell properties on lymphoid progenitors.

Epididymal cystadenomas and epithelial tumourlets: effects of VHL deficiency on the human epididymis

Epistatic role of the MYH9/APOL1 region on familial hematuria genes

Erratum: Corrigendum: Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition

Erythropoietin gene expression in renal carcinoma is considerably more frequent than paraneoplastic polycythemia

Evidence for a lack of a direct transcriptional suppression of the iron regulatory peptide hepcidin by hypoxia-inducible factors

Evolution of VHL tumourigenesis in nerve root tissue

Expression of Hypoxia-Inducible Factors in Normal Human Lung Development

Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees

Family-based association study showing that immunoglobulin A nephropathy is associated with the polymorphisms 2093C and 2180T in the 3' untranslated region of the Megsin gene

Formation of primary cilia in the renal epithelium is regulated by the von Hippel-Lindau tumor suppressor protein

Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition

Fumarylacetoacetate Hydrolase Knock-out Rabbit Model for Hereditary Tyrosinemia Type 1.

Gene array of VHL mutation and hypoxia shows novel hypoxia-induced genes and that cyclin D1 is a VHL target gene

Genetic evidence for a tumor suppressor role of HIF-2alpha.

Genetic insights into the hypoxia-inducible factor (HIF) pathway

Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels

HIF prolyl hydroxylase inhibitors for the treatment of renal anaemia and beyond

HIF prolyl hydroxylases in the rat; organ distribution and changes in expression following hypoxia and coronary artery ligation.

HIF-1 reduces ischaemia-reperfusion injury in the heart by targeting the mitochondrial permeability transition pore.

HIF-1α Promotes Glutamine-Mediated Redox Homeostasis and Glycogen-Dependent Bioenergetics to Support Postimplantation Bone Cell Survival

HIF-1α metabolically controls collagen synthesis and modification in chondrocytes

Heterozygous deficiency of PHD2 restores tumor oxygenation and inhibits metastasis via endothelial normalization

Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.

Hypoxia and B cells

Hypoxia-induced nitric oxide production and tumour perfusion is inhibited by pegylated arginine deiminase (ADI-PEG20).

Hypoxia-inducible factor as a physiological regulator

INACTIVATION OF THE PHOSPHATASE AND TENSIN HOMOLOG (PTEN) TUMOR SUPPRESSOR CONTRIBUTES TO TUMOR CHARACTERISTICS OF 786-O CLEAR CELL RENAL CARCINOMA CELLS

Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis

Inadvertent postdialysis anticoagulation due to heparin line locks

Incidence of end-stage renal disease in the Turkish-Cypriot population of Northern Cyprus: a population based study

Inhibition of hypoxia inducible factor hydroxylases protects against renal ischemia-reperfusion injury

Is it rejection? Be on the lookout for 'decoys'.

Lack of endothelial cell survivin causes embryonic defects in angiogenesis, cardiogenesis, and neural tube closure

Loss of PHD3 allows tumours to overcome hypoxic growth inhibition and sustain proliferation through EGFR.

Loss or silencing of the PHD1 prolyl hydroxylase protects livers of mice against ischemia/reperfusion injury

Manifesto for a healthy and health-creating society

Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.

Neutrophils from patients with heterozygous germline mutations in the von Hippel Lindau protein (pVHL) display delayed apoptosis and enhanced bacterial phagocytosis

Novel insights into the role of the tumor suppressor von Hippel Lindau in cellular differentiation, ciliary biology, and cyst repression

Organ-Specific Collagen Expression: Implications for Renal Disease

Osteocytic oxygen sensing controls bone mass through epigenetic regulation of sclerostin.

Peptide blockade of HIFalpha degradation modulates cellular metabolism and angiogenesis

Persistent induction of HIF-1alpha and -2alpha in cardiomyocytes and stromal cells of ischemic myocardium

Plasma hepcidin levels are elevated but responsive to erythropoietin therapy in renal disease

Proceedings of the Oxygen Homeostasis/Hypoxia Meeting

Progression of epididymal maldevelopment into hamartoma-like neoplasia in VHL disease.

Prolyl hydroxylase 2 inactivation enhances glycogen storage and promotes excessive neutrophilic responses

Prolyl hydroxylase domain inhibitors: a route to HIF activation and neuroprotection

Regulation of E-cadherin expression by VHL and hypoxia-inducible factor.

Regulation of expression of the erythropoietin gene

Regulation of renal epithelial tight junctions by the von Hippel-Lindau tumor suppressor gene involves occludin and claudin 1 and is independent of E-cadherin

Regulation of the HIF pathway: enzymatic hydroxylation of a conserved prolyl residue in hypoxia-inducible factor alpha subunits governs capture by the pVHL E3 ubiquitin ligase complex

Renal cell carcinoma: translational aspects of metabolism and therapeutic consequences

Role of Gas6 in erythropoiesis and anemia in mice

SP014A NOVEL COL4A1 FRAMESHIFT MUTATION AND KIDNEY DISEASE WITHOUT EXTRA-RENAL INVOLVEMENT IN A LARGE TURKISH CYPRIOT FAMILY