A5077812685- Kidney Stones and Urolithiasis Treatments
- Biomedical Research and Pathophysiology
- Porphyrin Metabolism and Disorders
- Renal Diseases and Glomerulopathies
- Pediatric Urology and Nephrology Studies
- Renal and related cancers
- Genetic and Kidney Cyst Diseases
- Ion Transport and Channel Regulation
- Complement system in diseases
- Metabolism and Genetic Disorders
- Chronic Kidney Disease and Diabetes
- Parathyroid Disorders and Treatments
- Magnesium in Health and Disease
- Hemoglobinopathies and Related Disorders
- Pancreatic function and diabetes
- Neonatal Health and Biochemistry
- Pregnancy and preeclampsia studies
- Glycosylation and Glycoproteins Research
- Urological Disorders and Treatments
- Renal Transplantation Outcomes and Treatments
- Renal function and acid-base balance
- Biochemical and Molecular Research
- Therapeutic Uses of Natural Elements
- Galectins and Cancer Biology
- Genetic Syndromes and Imprinting
University of Cologne
2016-2025
University Hospital Cologne
2016-2025
Klinik und Poliklinik für Psychosomatik und Psychotherapie
2018-2024
University of South Alabama
2024
Centrum für Integrierte Onkologie
2010-2022
RELX Group (United States)
2018
Institute of Human Genetics
2016
University of Bonn
2013
Pediatric Nephrology of Alabama
2009
Boston Children's Hospital
2003-2009
Nephrotic syndrome (NS) is divided into steroid-sensitive (SSNS) and -resistant (SRNS) variants. SRNS causes end-stage kidney disease, which cannot be cured. While the disease mechanisms of NS are not well understood, genetic mapping studies suggest a multitude unknown single-gene causes. We combined homozygosity with whole-exome resequencing identified an ARHGDIA mutation that SRNS. demonstrated in complex RHO GTPases prominently expressed podocytes rat glomeruli. mutations (R120X G173V)...
Bone densitometric data often are difficult to interpret in children and adolescents because of large inter- intraindividual variations bone size. Here, we propose a functional approach densitometry that addresses two questions: Is strength normally adapted the largest physiological loads, is, muscle force? force adequate for body size? To implement this approach, forearm cross-sectional area (CSA) mineral content (BMC) radial diaphysis were measured 349 healthy subjects from 6 19 years age...
Three pregnancies with male offspring in one family were complicated by severe polyhydramnios and prematurity. One fetus died; the other two had transient massive salt-wasting polyuria reminiscent of antenatal Bartter’s syndrome.
Primary hyperoxaluria type I (PH I) is caused by deficiency of the liver-specific enzyme alanine-glyoxylate:aminotransferase (AGT). Many mutations are known to perturb AGT protein folding. Vitamin B6 (B6) only specific drug available for treatment. Although has been used >40 years, controlled data on efficacy lacking. Therefore, this study investigated absolute and relative change urinary oxalate (Uox) excretion under increasing dosages B6, first prospective trial do so.B6 response was...
Treatment of congenital nephrotic syndrome (CNS) and steroid-resistant (SRNS) is demanding, renal prognosis poor. Numerous causative gene mutations have been identified in SRNS that affect the podocyte. In era high-throughput sequencing techniques, patients with nongenetic frequently escape scientific interest. We here present long-term data German CNS/SRNS Follow-Up Study, focusing on response to cyclosporin A (CsA) versus genetic disease.Cross-sectional longitudinal clinical were collected...
Primary hyperoxaluria type 2 is a rare inherited disorder of glyoxylate metabolism causing nephrocalcinosis, renal stone formation and ultimately kidney failure. Previously, primary was considered to have more favorable prognosis than 1, but earlier reports are limited by low patient numbers short follow up periods. Here we report on the clinical, genetic, biochemical findings from largest cohort patients with 2, obtained retrospective record review genetically confirmed cases in OxalEurope...
Abstract Cell-free DNA (cfDNA) analysis has become essential in cancer diagnostics and prenatal testing. We present cfNOMe , a two-in-one method of measuring cfDNA cytosine methylation nucleosome occupancy single assay using non-disruptive enzymatic conversion custom bioinformatic pipeline. show that better preserves fragmentation information than does bisulfite conversion. Whereas previously separate experiments were required to study either epigenetic marking, delivers reliable results for...
Over the last decade, advances in genetic techniques have resulted identification of rare hereditary disorders renal magnesium and salt handling. Nevertheless, approximately 20% all patients with tubulopathy lack a diagnosis.We performed whole-exome -genome sequencing patient cohort novel, inherited, salt-losing tubulopathy; hypomagnesemia; dilated cardiomyopathy. We also conducted subsequent vitro functional analyses identified variants RRAGD, gene that encodes small Rag guanosine...