Robert Kleta
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View article: A Neanderthal haplotype introgressed into the human genome confers protection against membranous nephropathy
A Neanderthal haplotype introgressed into the human genome confers protection against membranous nephropathy Open
Class 2 HLA and PLA2R1 alleles are exceptionally strong genetic risk factors for membranous nephropathy (MN), leading, through an unknown mechanism, to a targeted autoimmune response. Introgressed archaic haplotypes (introduced from an arc…
View article: Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data Open
To discover rare disease-gene associations, we developed a gene burden analytical framework and applied it to rare, protein-coding variants from whole genome sequencing of 35,008 cases with rare diseases and their family members recruited …
View article: A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility
A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility Open
Normal function of the C-terminal Eps15 homology domain-containing protein 1 (EHD1) has previously been associated with endocytic vesicle trafficking, shaping of intracellular membranes, and ciliogenesis. We recently identified an autosoma…
View article: Membranous nephropathy in the UK Biobank
Membranous nephropathy in the UK Biobank Open
Background Despite MN being one of the most common causes of nephrotic syndrome worldwide, its biological and environmental determinants are poorly understood in large-part due to it being a rare disease. Making use of the UK Biobank, a un…
View article: A Genetic Risk Score Distinguishes Different Types of Autoantibody-Mediated Membranous Nephropathy
A Genetic Risk Score Distinguishes Different Types of Autoantibody-Mediated Membranous Nephropathy Open
Introduction: Membranous nephropathy (MN) is the leading cause of nephrotic syndrome in adults and is characterized by detectable autoantibodies against glomerular antigens, most commonly phospholipase A2 receptor 1 (PLA2R1) and thrombospo…
View article: Membranous Nephropathy in the UK Biobank
Membranous Nephropathy in the UK Biobank Open
Background Despite MN being one of the most common causes of nephrotic syndrome worldwide, its biological and environmental determinants are poorly understood in large-part due to it being a rare disease. Making use of the UK Biobank, a un…
View article: Supplementary Material for: A genetic risk score distinguishes different types of autoantibody mediated membranous nephropathy
Supplementary Material for: A genetic risk score distinguishes different types of autoantibody mediated membranous nephropathy Open
=Introduction: Membranous nephropathy (MN) is the leading cause of nephrotic syndrome in adults and is characterized by detectable autoantibodies against glomerular antigens, most commonly phospholipase A2 receptor-1 (PLA2R1) and thrombosp…
View article: Supplementary Material for: A genetic risk score distinguishes different types of autoantibody mediated membranous nephropathy
Supplementary Material for: A genetic risk score distinguishes different types of autoantibody mediated membranous nephropathy Open
=Introduction: Membranous nephropathy (MN) is the leading cause of nephrotic syndrome in adults and is characterized by detectable autoantibodies against glomerular antigens, most commonly phospholipase A2 receptor-1 (PLA2R1) and thrombosp…
View article: Supplementary Material for: A genetic risk score distinguishes different types of autoantibody mediated membranous nephropathy
Supplementary Material for: A genetic risk score distinguishes different types of autoantibody mediated membranous nephropathy Open
=Introduction: Membranous nephropathy (MN) is the leading cause of nephrotic syndrome in adults and is characterized by detectable autoantibodies against glomerular antigens, most commonly phospholipase A2 receptor-1 (PLA2R1) and thrombosp…
View article: Supplementary Material for: A genetic risk score distinguishes different types of autoantibody mediated membranous nephropathy
Supplementary Material for: A genetic risk score distinguishes different types of autoantibody mediated membranous nephropathy Open
=Introduction: Membranous nephropathy (MN) is the leading cause of nephrotic syndrome in adults and is characterized by detectable autoantibodies against glomerular antigens, most commonly phospholipase A2 receptor-1 (PLA2R1) and thrombosp…
View article: Supplementary Material for: A genetic risk score distinguishes different types of autoantibody mediated membranous nephropathy
Supplementary Material for: A genetic risk score distinguishes different types of autoantibody mediated membranous nephropathy Open
=Introduction: Membranous nephropathy (MN) is the leading cause of nephrotic syndrome in adults and is characterized by detectable autoantibodies against glomerular antigens, most commonly phospholipase A2 receptor-1 (PLA2R1) and thrombosp…
View article: Shared genetic risk across different presentations of gene test–negative idiopathic nephrotic syndrome
Shared genetic risk across different presentations of gene test–negative idiopathic nephrotic syndrome Open
Background Idiop athic nephrotic syndrome (INS) is classified in children according to response to initial corticosteroid therapy into steroid-sensitive (SSNS) and steroid-resistant nephrotic syndrome (SRNS), and in adults according to his…
View article: Common risk variants in <i>AHI1</i> are associated with childhood steroid-sensitive nephrotic syndrome
Common risk variants in <i>AHI1</i> are associated with childhood steroid-sensitive nephrotic syndrome Open
Background Steroid-sensitive nephrotic syndrome (SSNS) is the most common form of kidney disease in children worldwide. Genome-wide association studies (GWAS) have demonstrated association of SSNS with genetic variation at HLA-DQ/DR and ha…
View article: Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves Open
Posterior urethral valves (PUV) are the commonest cause of end-stage renal disease in children, but the genetic architecture of this rare disorder remains unknown. We performed a sequencing-based genome-wide association study (seqGWAS) in …
View article: Author response: Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves
Author response: Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves Open
Article Figures and data Abstract Editor's evaluation Introduction Results Discussion Methods Appendix 1 Data availability References Decision letter Author response Article and author information Metrics Abstract Posterior urethral valves…
View article: Quantification of FAM20A in human milk and identification of calcium metabolism proteins
Quantification of FAM20A in human milk and identification of calcium metabolism proteins Open
Using mass spectrometry-driven proteomics, we successfully quantified FAM20A from transitional to mature milk and obtained a list of proteins involved in calcium metabolism. Furthermore, we show the value of using a combination of both sho…
View article: Mixed ancestry analysis of whole-genome sequencing identifies <i>TBX5</i> and <i>PTK7</i> as susceptibility genes for posterior urethral valves
Mixed ancestry analysis of whole-genome sequencing identifies <i>TBX5</i> and <i>PTK7</i> as susceptibility genes for posterior urethral valves Open
Posterior urethral valves (PUV) are the commonest cause of end-stage renal disease in children, but the genetic architecture of this rare disorder remains largely unknown. We analyzed whole-genome sequencing (WGS) data from 132 unrelated P…
View article: Distinct Mitochondrial Pathologies Caused by Mutations of the Proximal Tubular Enzymes EHHADH and GATM
Distinct Mitochondrial Pathologies Caused by Mutations of the Proximal Tubular Enzymes EHHADH and GATM Open
The mitochondria of the proximal tubule are essential for providing energy in this nephron segment, whose ATP generation is almost exclusively oxygen dependent. In addition, mitochondria are involved in a variety of metabolic processes and…
View article: Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD) Open
Background Polycystic kidney disease with hyperinsulinaemic hypoglycaemia (HIPKD) is a recently described disease caused by a single nucleotide variant, c.‐167G>T, in the promoter region of PMM2 (encoding phosphomannomutase 2), either in h…
View article: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness Open
Significance Statement A novel disease phenotype comprises a tubulopathy with severe hypokalemia, renal salt wasting, disturbed acid-base homeostasis, and sensorineural deafness associated with variants in KCNJ16 (K ir 5.1). In the kidney,…
View article: Identification of a novel genetic locus associated with immune-mediated thrombotic thrombocytopenic purpura
Identification of a novel genetic locus associated with immune-mediated thrombotic thrombocytopenic purpura Open
Immune thrombotic thrombocytopenic purpura (iTTP) is an ultra-rare, life-threatening disorder, mediated through severe ADAMTS13 deficiency causing multi-system micro-thrombi formation, and has specific human leukocyte antigen associations.…
View article: Long-term outcome in inherited nephrogenic diabetes insipidus
Long-term outcome in inherited nephrogenic diabetes insipidus Open
[This corrects the article DOI: 10.1093/ckj/sfy027.][This corrects the article DOI: 10.1093/ckj/sfy027.].
View article: Treatment and long-term outcome in primary nephrogenic diabetes insipidus
Treatment and long-term outcome in primary nephrogenic diabetes insipidus Open
Background Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome. Methods Paediatric and adult nephrologists contacted through European professional organization…
View article: HEROIC: a 5-year observational cohort study aimed at identifying novel factors that drive diabetic kidney disease: rationale and study protocol
HEROIC: a 5-year observational cohort study aimed at identifying novel factors that drive diabetic kidney disease: rationale and study protocol Open
Introduction Diabetic kidney disease (DKD) is the leading cause of end-stage kidney disease worldwide and a major cause of premature mortality in diabetes mellitus (DM). While improvements in care have reduced the incidence of kidney disea…