Julia Hoefele
A5045535986- Renal and related cancers
- Renal Diseases and Glomerulopathies
- Genetic and Kidney Cyst Diseases
- Cell Adhesion Molecules Research
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Pediatric Urology and Nephrology Studies
- Chronic Kidney Disease and Diabetes
- Epigenetics and DNA Methylation
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Renal cell carcinoma treatment
- Platelet Disorders and Treatments
- Connective tissue disorders research
- Genetic Syndromes and Imprinting
- Genomic variations and chromosomal abnormalities
- Urological Disorders and Treatments
- Fetal and Pediatric Neurological Disorders
- Congenital heart defects research
- Metabolism and Genetic Disorders
- Biomedical Research and Pathophysiology
- Tuberous Sclerosis Complex Research
- Coenzyme Q10 studies and effects
- Delphi Technique in Research
- Medical and Health Sciences Research
- Protist diversity and phylogeny
Klinikum rechts der Isar
2017-2025
Technical University of Munich
2016-2025
Institute of Human Genetics
2016-2025
Ludwig-Maximilians-Universität München
2005-2024
Weatherford College
2022
University of Ss. Cyril and Methodius in Trnava
2022
CS Diagnostics
2015-2016
Center for Human Genetics
2015
University of Michigan
2002-2011
Ostschweizer Kinderspital
2010
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)...
Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well complex that manifest in combination environmental factors, have been discovered. Genetic findings are increasingly used to inform clinical management nephropathies, and led improved diagnostics, disease surveillance, choice therapy, family counseling. All these steps rely on accurate interpretation genetic data, which can be outpaced by current rates data collection. In March 2021, Kidney Diseases:...
Autosomal dominant polycystic kidney disease (ADPKD) is typically a late-onset caused by mutations in PKD1 or PKD2, but about 2% of patients with ADPKD show an early and severe phenotype that can be clinically indistinguishable from autosomal recessive (ARPKD). The high recurrence risk pedigrees PKD strongly suggests common familial modifying background, the mechanisms underlying extensive phenotypic variability observed among affected family members remain unknown. Here, we describe...
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...
Nephronophthisis is a recessive cystic renal disease that leads to end-stage failure in the first two decades of life. Twenty-five percent nephronophthisis cases are caused by large homozygous deletions <i>NPHP1</i>, but six genes responsible for have been identified. Because oligogenic inheritance has described related Bardet-Biedl syndrome, we evaluated whether mutations more than one gene may also be detected nephronophthisis. nephrocystins 1 4 known interact, examined patients with from...
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...
Genetic testing for pathogenic COL4A3–5 variants is usually undertaken to investigate the cause of persistent hematuria, especially with a family history hematuria or kidney function impairment. Alport syndrome experts now advocate genetic even when heterozygous COL4A3 COL4A4 suspected, and cascade their first-degree members because risk impaired function. The recommend too that heterozygotes do not act as donors. Testing in COL4A3–COL4A5 genes should also be performed proteinuria...
Abstract The recent Chandos House meeting of the Alport Variant Collaborative extended indications for screening pathogenic variants in COL4A5, COL4A3 and COL4A4 genes beyond classical phenotype (haematuria, renal failure; family history haematuria or failure) to include persistent proteinuria, steroid-resistant nephrotic syndrome, focal segmental glomerulosclerosis (FSGS), familial IgA glomerulonephritis end-stage kidney failure without an obvious cause. refined ACMG criteria variant...
Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome.
Up to 40% of neurodevelopmental disorders (NDDs) such as intellectual disability, developmental delay, autism spectrum disorder, and motor abnormalities have a documented underlying monogenic defect, primarily due de novo variants. Still, the overall burden variants well novel disease genes in NDDs await discovery. We performed parent-offspring trio exome sequencing 231 individuals with NDDs. Phenotypes were compiled using human phenotype ontology terms. The diagnostic yield was 49.8% (n =...
Primary Coenzyme Q10 (CoQ10) deficiency is an ultra-rare disorder caused by defects in genes involved CoQ10 biosynthesis leading to multidrug-resistant nephrotic syndrome as the hallmark kidney manifestation. Promising early results have been reported anecdotally with oral supplementation. However, long-term efficacy and optimal prescription remain be established. In a global effort, we collected analyzed information from 116 patients who received supplements for primary due biallelic...
Congenital abnormalities of the kidney and urinary tract (CAKUT) are most frequent cause chronic disease in children, accounting for about half all cases. Although many forms CAKUT likely caused by single-gene defects, mutations only a few genes have been identified. In order to detect new contributing we pooled DNA from 20 individuals amplify 313 exons 30 candidate PCR analysis massively parallel exon resequencing. Mutation carriers were identified Sanger sequencing. We repeated with...
In 1927 Arthur Cecil Alport, a South African physician, described British family with an inherited form of kidney disease that affected males more severely than females and was sometimes associated hearing loss. 1961, the eponymous name Alport syndrome adopted. late twentieth century three genes responsible for were discovered: COL4A3, COL4A4, COL4A5 encoding α3, α4, α5 polypeptide chains type IV collagen, respectively. These assemble to heterotrimers collagen in glomerular basement...
We recently reported on the deficiency of carbohydrate sulfotransferase 3 (CHST3; chondroitin-6-sulfotransferase) in six subjects diagnosed with recessive Larsen syndrome or humero-spinal dysostosis [Hermanns et al. (2008); Am J Hum Genet 82:1368-1374]. Since then, we have identified 17 additional families CHST3 mutations and report here a series 24 patients 23 families. The diagnostic hypothesis prior to molecular analysis had been: (15 families), (four cases), chondrodysplasia multiple...
To investigate the effect of PLXNA1 variants on phenotype patients with autosomal dominant and recessive inheritance patterns to functionally characterize zebrafish homologs plxna1a plxna1b during development.We assembled ten from seven families biallelic or de novo variants. We describe genotype-phenotype correlations, investigated by structural modeling, used Morpholino knockdown experiments in embryonic role plxna1b.Shared phenotypic features among include global developmental delay...
Angiotensin-converting enzyme inhibitors (ACEis) have evolved as a first-line therapy for delaying end-stage renal failure (ESRF) in Alport syndrome (AS). The present study tested the hypothesis of superior nephroprotective potential an early ACEi intervention, examining cohort with COL4A5 missense variant p.(Gly624Asp).In this observational (NCT02378805), 114 individuals identical gene were explored age at ESRF and life expectancy correlation treatment endpoints.All 13 untreated hemizygous...