List of works - Patrick H. Maxwell

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

scientific article

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

scientific article

A new approach to treating renal anaemia

scientific article published on 01 December 2019

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

scientific article

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

scientific article

C3 glomerulonephritis and CFHR5 nephropathy

scientific article

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

scientific article

Cardiopulmonary phenotype associated with human PHD2 mutation

scientific article published on April 2017

Cell transcriptomic atlas of the non-human primate Macaca fascicularis

scientific article published on 13 April 2022

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

scientific article published on 5 April 2013

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

scientific article published on 10 March 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

scientific article published on 12 May 2017

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

scientific article published in March 2006

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

scientific article

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

scientific article published on 9 May 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 ⬇️

scientific article published on September 17, 2010

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

scientific article

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

scientific article published on 31 August 2020

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

scientific article

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

scientific article published on 01 September 2006

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

scientific article

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

scientific article published in Nature

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

scientific article

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

scientific article

Evolution of VHL tumourigenesis in nerve root tissue

scientific article published on 01 November 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

scientific article

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

scientific article

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

scientific article (publication date: July 2006)

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

scientific article published on 31 August 2016

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

scientific article published on 04 January 2017

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

scientific article published on March 2004

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

scientific article published in August 2005

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

scientific article published on 01 March 2007

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

scientific article

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

scientific article

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

scientific article published in July 2006

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

scientific article published on 25 July 2014

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

scientific article published in February 2016

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

scientific article published on 16 January 2019

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

scientific article

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

scientific article

Hypoxia and B cells

scientific article published on 11 March 2017

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

scientific article published on 14 March 2016

Hypoxia-inducible factor as a physiological regulator

scientific article

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

scientific article

Inadvertent postdialysis anticoagulation due to heparin line locks

scientific article published in October 2007

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

scientific article

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

scientific article published on January 2008

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

scientific article

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

scientific article published on 13 February 2007

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

scientific article

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

scientific article published on 8 October 2009

Manifesto for a healthy and health-creating society

scientific article published on 6 October 2016

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

scientific article (publication date: July 2006)

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.

scientific article

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

scientific article published on 29 June 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.

scientific article published on 2 July 2018

Peptide blockade of HIFalpha degradation modulates cellular metabolism and angiogenesis

scientific article

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

scientific article published on 9 July 2004

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

scientific article (publication date: May 2009)

Proceedings of the Oxygen Homeostasis/Hypoxia Meeting

scientific article published in May 2004

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

scientific article published on October 2008

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

scientific article published on 14 August 2017

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

scientific article published on April 2010

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

scientific article published in April 2006

Regulation of expression of the erythropoietin gene

scientific article

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

scientific article

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

scientific article

Renal cell carcinoma: translational aspects of metabolism and therapeutic consequences

scientific article published on 03 July 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

scientific article published on January 2006

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

scientific article

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

scientific article

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

scientific article

The hypoxia response pathway and β-cell function.

scientific article published on October 2010

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

scientific article published on 26 December 2013

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

scientific article

The role of HIF in immunity

scientific article published on 17 October 2009

The use of dioxygen by HIF prolyl hydroxylase (PHD1)

scientific article

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

scientific article published on 19 February 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

scientific article

VHL inactivation induces HEF1 and Aurora kinase A

scientific article

VHL-Mediated Regulation of CHCHD4 and Mitochondrial Function

scientific article published on 04 October 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

scientific article

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

scientific article published on 14 January 2009

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

scientific article published on 24 May 2013

List of works by 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