Stefan Kohl
A5053315964- Renal and related cancers
- Pediatric Urology and Nephrology Studies
- Genetic and Kidney Cyst Diseases
- Renal Diseases and Glomerulopathies
- Renal cell carcinoma treatment
- Urological Disorders and Treatments
- Genetic Syndromes and Imprinting
- Plant nutrient uptake and metabolism
- Cystic Fibrosis Research Advances
- Crop Yield and Soil Fertility
- Congenital Diaphragmatic Hernia Studies
- Genomics and Phylogenetic Studies
- Retinal Development and Disorders
- Veterinary Oncology Research
- Tracheal and airway disorders
- Renal and Vascular Pathologies
- Connexins and lens biology
- Protist diversity and phylogeny
- Fetal and Pediatric Neurological Disorders
- Lepidoptera: Biology and Taxonomy
- Plant Molecular Biology Research
- Glycosylation and Glycoproteins Research
- Chronic Kidney Disease and Diabetes
- Prenatal Screening and Diagnostics
- Galectins and Cancer Biology
University Hospital Cologne
2016-2025
University of Cologne
2021-2025
Klinik und Poliklinik für Kinder- und Jugendmedizin
2022-2024
Johannes Kepler University of Linz
2022
Boston Children's Hospital
2013-2020
Harvard University
2013-2020
Leibniz Institute for Neurobiology
2015
Leibniz Institute of Plant Genetics and Crop Plant Research
2009-2015
Harvard University Press
2014-2015
University Medical Center Freiburg
2015
Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of ESRD in first two decades life. Effective treatment lacking. First insights into disease mechanisms came from identification single-gene causes SRNS. However, frequency causation and its age distribution large cohorts are unknown. We performed exon sequencing NPHS2 WT1 for 1783 unrelated, international families with then examined all patients by microfluidic multiplex PCR next-generation 27 genes known to SRNS...
Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately half children with chronic disease. CAKUT can be caused by monogenic mutations; however, data are lacking on their frequency. Genetic diagnosis has been hampered genetic heterogeneity lack genotype–phenotype correlation. To determine percentage cases that explained mutations in known genes, we analyzed coding exons 17 dominant CAKUT-causing genes a cohort 749 individuals from 650 families CAKUT. The most...
Background and objectives Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified cause steroid-resistant syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with Panel has a number limitations when compared whole exome sequencing. employed detect causes an international cohort 300 families. Design, setting, participants, & measurements Three hundred thirty-five...
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia, but the genetic cause not defined for all patients with PCD.To identify disease-causing mutations in novel genes, we performed exome sequencing, follow-up characterization, mutation scanning, and genotype-phenotype studies PCD.Whole-exome sequencing was using NimbleGen capture Illumina HiSeq sequencing. Sanger-based used validation, segregation analysis.We on an affected sib-pair normal...
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of progressive renal function decline and affects millions people. In recent study, 30% SRNS cases evaluated were the result monogenic mutations in 1 27 different genes. Here, using homozygosity mapping whole-exome sequencing, we identified recessive kidney ankyrin repeat-containing protein (KANK1), KANK2, KANK4 individuals with syndrome. an independent functional genetic screen Drosophila cardiac nephrocytes, which are...
Abstract Increasing grain sink strength by improving assimilate uptake capacity could be a promising approach toward getting higher yield. The barley (Hordeum vulgare) sucrose transporter HvSUT1 (SUT) was expressed under control of the endosperm-specific Hordein B1 promoter (HO). Compared with wild type, transgenic HOSUT grains take up more (Suc) in vitro, showing that transgene is functional. Grain Suc levels are not altered, indicating fluxes influenced rather than steady-state levels....
Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately 40% children with ESRD in United States. Hitherto, mutations 23 genes have been described as causing autosomal dominant isolated CAKUT humans. However, >90% cases still remain without a molecular diagnosis. Here, we hypothesized that mutated recessive mouse models specific phenotype unilateral renal agenesis may also be humans CAKUT. We applied next-generation sequencing technology targeted exon 12 murine...
Congenital anomalies of the kidneys and urinary tract (CAKUT) are leading cause CKD in children, featuring a broad variety malformations. A monogenic can be detected around 12% patients. However, morphologic clinical phenotype CAKUT frequently does not indicate specific genes to examined. To determine likelihood detecting causative recessive mutations by whole-exome sequencing (WES), we analyzed individuals with from 33 different consanguineous families. Using homozygosity mapping WES,...
Abstract Background Whole genome sequencing of marine cyanobacteria has revealed an unprecedented degree genomic variation and streamlining. With a size 1.66 megabase-pairs, Prochlorococcus sp. MED4 the most compact these genomes it is enigmatic how few identified regulatory proteins efficiently sustain lifestyle ecologically successful microorganism. Small non-coding RNAs (ncRNAs) control plethora processes in eukaryotes as well bacteria; however, systematic searches for ncRNAs are still...
The VATER/VACTERL association describes the combination of congenital anomalies including vertebral defects, anorectal malformations, cardiac tracheoesophageal fistula with or without esophageal atresia, renal and limb defects. As mutations in ciliary genes were observed diseases related to VATER/VACTERL, we performed targeted resequencing 25 candidate as well disease-associated (FOXF1, HOXD13, PTEN, ZIC3) 123 patients VATER/VACTERL-like phenotype. We detected no biallelic mutation any...
The majority of nitrogen accumulating in cereal grains originates from proteins remobilised vegetative organs. However, interactions between grain filling and remobilisation are poorly understood. We used transcriptome large-scale pyrosequencing flag leaves, glumes developing to identify cysteine peptidase N transporter genes playing a role accumulation barley. Combination already known newly derived sequence information reduced redundancy, increased contig length identified new members gene...
During grain filling in barley (Hordeum vulgare L. cv. Barke) reserves are remobilized from vegetative organs. Glumes represent the tissues closest to grains, senesce late, and involved conversion of assimilates. To analyse glume development metabolism related filling, parallel transcript metabolite profiling glumes endosperm were performed, showing that adjusts changing demands, reflected by specific signatures abundances. Before high sink strength is established storage product...
<title>Abstract</title> <bold>Background:</bold> Rare diseases affect fewer than 1 in 2,000 individuals, but approximately 150 rare kidney account for about 10% of the chronic disease (CKD) population, impacting millions across Europe and globally. The scarcity medical experts these conditions results an unmet need accurate helpful patient information. Large language models like ChatGPT may offer a technological solution to assist professionals educating patients improving doctor-patient...