Horia Stanescu
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View article: Multiethnic prevalence of the <i>APOL1</i> G1 and G2 variants among the Israeli dialysis population
Multiethnic prevalence of the <i>APOL1</i> G1 and G2 variants among the Israeli dialysis population Open
Background and hypothesis The two apolipoprotein L1 (APOL1) variants, G1 and G2, are common in populations of sub-Saharan African ancestry. Individuals with two of these alleles (G1 or G2) have an increased risk for a spectrum of non-diabe…
View article: Whole-genome sequencing reveals contribution of rare and common variation to structural kidney and urinary tract malformations
Whole-genome sequencing reveals contribution of rare and common variation to structural kidney and urinary tract malformations Open
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the commonest cause of kidney failure in children and young adults with over 50 monogenic causes identified, largely in cohorts enriched for familial, syndromic, or consangu…
View article: Quantifying variant contributions in cystic kidney disease using national-scale whole-genome sequencing
Quantifying variant contributions in cystic kidney disease using national-scale whole-genome sequencing Open
BACKGROUNDCystic kidney disease (CyKD) is a predominantly familial disease in which gene discovery has been led by family-based and candidate gene studies, an approach that is susceptible to ascertainment and other biases.METHODSUsing whol…
View article: #1761 Whole-genome sequencing reveals contribution of rare and common variation to structural kidney and urinary tract malformations
#1761 Whole-genome sequencing reveals contribution of rare and common variation to structural kidney and urinary tract malformations Open
Background and Aims Structural kidney and urinary tract malformations are the commonest cause of kidney failure in children and young adults. Targeted and whole-exome sequencing has identified over 50 monogenic causes for these phenotypica…
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: Quantifying variant contributions in cystic kidney disease using national-scale whole genome sequencing
Quantifying variant contributions in cystic kidney disease using national-scale whole genome sequencing Open
Introduction Cystic kidney disease (CyKD) is frequently a familial disease, with ~85% of probands receiving a monogenic diagnosis. However, gene discovery has been led by family-based and candidate gene studies, limiting the ascertainment …
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: 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: 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: 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: 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: 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: Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis
Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis Open
RNA modifications play a fundamental role in cellular function. Pseudouridylation, the most abundant RNA modification, is catalyzed by the H/ACA small ribonucleoprotein (snoRNP) complex that shares four core proteins, dyskerin (DKC1), NOP1…
View article: TRAP1 chaperone protein mutations and autoinflammation
TRAP1 chaperone protein mutations and autoinflammation Open
We identified a consanguineous kindred, of three affected children with severe autoinflammation, resulting in the death of one sibling and allogeneic stem cell transplantation in the other two. All three were homozygous for MEFV p.S208C mu…
View article: Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome Open
Significance Statement Although steroid-sensitive nephrotic syndrome (SSNS) is considered an autoimmune disease, its etiology is poorly understood. Genome-wide association studies (GWAS) have provided important insights into other autoimmu…
View article: Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure Open
Background For many patients with kidney failure, the cause and underlying defect remain unknown. Here, we describe a novel mechanism of a genetic order characterized by renal Fanconi syndrome and kidney failure. Methods We clinically and …
View article: Genetics of membranous nephropathy
Genetics of membranous nephropathy Open
An HLA-DR3 association with membranous nephropathy (MN) was described in 1979 and additional evidence for a genetic component to MN was suggested in 1984 in reports of familial MN. In 2009, a pathogenic autoantibody was identified against …
View article: HaploForge: a comprehensive pedigree drawing and haplotype visualization web application
HaploForge: a comprehensive pedigree drawing and haplotype visualization web application Open
Motivation Haplotype reconstruction is an important tool for understanding the aetiology of human disease. Haplotyping infers the most likely phase of observed genotypes conditional on constraints imposed by the genotypes of other pedigree…
View article: A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling Open
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of CKD in the first three decades of life. However, for most patients with CAKUT, the causative mutation remains unknown. We identified a kindred with a…
View article: Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2 Open
Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetically heterogeneous disorders. The co-occurrence of these disorders (HIPKD) in 17 children from 11 unrelated families suggested an unrecogniz…