List of works - Daniel P Gale

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

scientific article

A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.

scientific article published on 5 December 2014

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome

scientific article

Attitudes in Patients with Autosomal Dominant Polycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis.

scientific article published on 30 September 2016

Atypical haemolytic uraemic syndrome in the eculizumab era: presentation, response to treatment and evaluation of an eculizumab withdrawal strategy

scientific article published on 27 March 2019

Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2 alpha mutation.

scientific article

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

article

C3 glomerulonephritis and CFHR5 nephropathy

scientific article

C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families.

scientific article published on January 2013

C3 glomerulopathy: consensus report

scientific article published on 30 October 2013

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

Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report

scientific article published on 26 July 2017

Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD)

scientific article published on 30 April 2019

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

Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report.

scientific article published on 29 January 2016

Diagnoses of uncertain significance: kidney genetics in the 21st century

scientific article published on 07 April 2020

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens

scientific article

Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension

scientific article published on 01 March 2011

End-stage renal failure associated with congenital deafness.

scientific article published on 27 March 2008

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

scientific article

Erythropoietin administration in humans causes a marked and prolonged reduction in circulating hepcidin

scientific article

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

scientific article

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

scientific article

First identification of PODXL nonsense mutations in autosomal dominant focal segmental glomerulosclerosis

scientific article published on 03 January 2019

Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.

scientific article published on 20 June 2017

Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1.

scientific article published on 16 February 2017

Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome

scientific article published on 01 July 2019

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

scientific article published on 03 July 2020

Genetic loci influencing kidney function and chronic kidney disease

scientific article

Genetic testing can resolve diagnostic confusion in Alport syndrome.

scientific article published on 18 December 2013

Germline selection shapes human mitochondrial DNA diversity

scientific article published on 23 May 2019

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

scientific article published on 13 April 2018

HLA has strongest association with IgA nephropathy in genome-wide analysis

scientific article

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

Isolated microscopic haematuria of glomerular origin: clinical significance and diagnosis in the 21st century

scientific article published on 01 December 2015

Kidney organoids recapitulate human basement membrane assembly in health and disease

scientific article published on 25 January 2022

Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy

scientific article published on 09 January 2020

Low α-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction.

scientific article published on June 2016

MUC1 Makes Me Miserable

scientific article published on 17 August 2018

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.

scientific article

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome ⬇️

article

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

scientific article (publication date: May 2009)

Recurrence of complement factor H-related protein 5 nephropathy in a renal transplant

scientific article

Regulating complement in the kidney: insights from CFHR5 nephropathy ⬇️

scientific article published on November 1, 2011

Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.

scientific article published on 2 March 2018

Steroid-responsive functional B12 deficiency in association with transcobalamin II polymorphism 776C --> G.

scientific article

The 2014 International Workshop on Alport Syndrome.

scientific article published on 2 July 2014

The UK guidelines for management and surveillance of Tuberous Sclerosis Complex

scientific article published on 01 March 2019

The identification of CFHR5 nephropathy ⬇️

scientific article published on 01 May 2011

The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies

scientific article

The role of HIF in immunity

scientific article published on 17 October 2009

The solution structure of the complement deregulator FHR5 reveals a compact dimer and provides new insights into CFHR5 nephropathy

scientific article published on 14 September 2020

Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care

scientific article published on 06 November 2019

Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature.

scientific article published on 23 September 2016

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

article

Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease

scientific article

List of works by Daniel P Gale

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

A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome

Attitudes in Patients with Autosomal Dominant Polycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis.

Atypical haemolytic uraemic syndrome in the eculizumab era: presentation, response to treatment and evaluation of an eculizumab withdrawal strategy

Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2 alpha mutation.

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

C3 glomerulonephritis and CFHR5 nephropathy

C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families.

C3 glomerulopathy: consensus report

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

Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report

Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD)

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

Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report.

Diagnoses of uncertain significance: kidney genetics in the 21st century

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens

Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension

End-stage renal failure associated with congenital deafness.

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

Erythropoietin administration in humans causes a marked and prolonged reduction in circulating hepcidin

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

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

First identification of PODXL nonsense mutations in autosomal dominant focal segmental glomerulosclerosis

Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.

Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1.

Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

Genetic loci influencing kidney function and chronic kidney disease

Genetic testing can resolve diagnostic confusion in Alport syndrome.

Germline selection shapes human mitochondrial DNA diversity

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

HLA has strongest association with IgA nephropathy in genome-wide analysis

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

Isolated microscopic haematuria of glomerular origin: clinical significance and diagnosis in the 21st century

Kidney organoids recapitulate human basement membrane assembly in health and disease

Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy

Low α-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction.

MUC1 Makes Me Miserable

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome ⬇️

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

Recurrence of complement factor H-related protein 5 nephropathy in a renal transplant

Regulating complement in the kidney: insights from CFHR5 nephropathy ⬇️

Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.

Steroid-responsive functional B12 deficiency in association with transcobalamin II polymorphism 776C --> G.

The 2014 International Workshop on Alport Syndrome.

The UK guidelines for management and surveillance of Tuberous Sclerosis Complex

The identification of CFHR5 nephropathy ⬇️

The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies

The role of HIF in immunity

The solution structure of the complement deregulator FHR5 reveals a compact dimer and provides new insights into CFHR5 nephropathy

Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care

Type I interferon causes thrombotic microangiopathy by a dose-dependent toxic effect on the microvasculature.

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

Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease