Florian Buerger
A5089672597- Renal Diseases and Glomerulopathies
- Renal and related cancers
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Renal cell carcinoma treatment
- Genetics and Neurodevelopmental Disorders
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Chronic Kidney Disease and Diabetes
- Celiac Disease Research and Management
- Genetic and Kidney Cyst Diseases
- Epigenetics and DNA Methylation
- Ion Transport and Channel Regulation
- Pediatric Urology and Nephrology Studies
- Systemic Lupus Erythematosus Research
- Biochemical Acid Research Studies
- Kidney Stones and Urolithiasis Treatments
- Genetic Syndromes and Imprinting
- Genomics and Rare Diseases
- Coenzyme Q10 studies and effects
- RNA modifications and cancer
- Metalloenzymes and iron-sulfur proteins
- PI3K/AKT/mTOR signaling in cancer
- Single-cell and spatial transcriptomics
- Lipid metabolism and biosynthesis
- Peptidase Inhibition and Analysis
- Renin-Angiotensin System Studies
Harvard University
2019-2024
Boston Children's Hospital
2019-2024
University Medical Center Hamburg-Eppendorf
2024
Universität Hamburg
2024
Boston Children's Museum
2020-2023
Leipzig University
2017
University Hospital Leipzig
2017
Significance Statement ADCK4 mutations generally manifest as steroid-resistant nephrotic syndrome, and cause coenzyme Q 10 (CoQ ) deficiency. However, ADCK4’s function remains obscure. Using mouse cell models, the authors demonstrated that podocyte-specific Adck4 deletion in mice significantly reduced survival caused severe FSGS, effects were prevented by treatment with 2,4-dihydroxybenzoic acid (2,4-diHB), a CoQ precursor analogue. ADCK4-knockout podocytes exhibited level defects...
NOS1AP variants impair actin remodeling in podocytes and cause glomerular disease humans, kidney organoids, mice.
Significance Statement Proteinuric kidney disease is a leading cause of ESKD in children. It part Galloway-Mowat syndrome, rare condition that includes severe form progressive nephropathy and prominent central nervous system features. The most common renal manifestation steroid-resistant nephrotic syndrome. Mutations the transcriptional regulator PRDM15 are novel monogenic both isolated early-onset syndrome Identifying variants these disorders provides insight into molecular pathogenesis...
Epidermal nevus syndromes encompass a highly heterogeneous group of systemic disorders, characterized by epidermal nevi, and spectrum neuromuscular, ocular, bone abnormalities. Cutaneous-skeletal hypophosphatemia syndrome (CSHS) constitutes specific sub-entity in which elevated levels fibroblast growth factor-23 cause hypophosphatemic rickets that are, to date, not amenable causal therapy. Here, we report the first long-term follow-up treatment with burosumab 3-year-old female patient CSHS....
The corneal epithelium is renowned for high regenerative potential, which dependent on the coordinated function of its diverse progenitor subpopulations. However, molecular pathways governing epithelial differentiation are incompletely understood. Here, we identify a highly proliferative limbal subpopulation characterized by expression basal cell adhesion molecule (BCAM) that capable holocone formation and sheet generation. BCAM-positive cells can be found among ABCB5-positive stem (LSCs) as...
ABSTRACT In genetic disease, an accurate expression landscape of disease genes and faithful animal models will enable precise diagnoses therapeutic discoveries, respectively. We previously discovered that variants in NOS1AP , encoding nitric oxide synthase 1 (NOS1) adaptor protein, cause monogenic nephrotic syndrome (NS). Here, we determined intergenic splice product N OS1AP / Nos1ap neighboring C1orf226/Gm7694 which precludes NOS1 binding, is the predominant isoform mammalian kidney...
Abstract Aim The earlier the onset of proteinuria, higher incidence genetic forms. Therefore, we aimed to analyse spectrum monogenic proteinuria in Egyptian children presenting at age <2 years. Methods results 27‐gene panel or whole‐exome sequencing were correlated with phenotype and treatment outcomes 54 patients from 45 families. Results Disease‐causing variants identified 29/45 (64.4%) Mutations often occurred three podocytopathy genes: NPHS1 , NPHS2 PLCE1 (19 families). Some showed...
Most of the approximately 60 genes that if mutated cause steroid-resistant nephrotic syndrome (SRNS) are highly expressed in glomerular podocyte, rendering SRNS a "podocytopathy."We performed whole-exome sequencing (WES) 1200 (NS) patients.We discovered homozygous truncating and missense mutation SYNPO2 (synaptopodin-2) (p.Lys1124∗ p.Ala1134Thr) 2 patients with childhood-onset NS. We found expression both podocytes mesangial cells; however, notably, immunofluorescence staining adult human...
Steroid-resistant nephrotic syndrome (SRNS) is the second most common cause of chronic kidney disease during childhood. Identification 63 monogenic human genes has delineated 12 distinct pathogenic pathways.Here, we generated 2 independent sets (NS) candidate to augment discovery additional causes based on whole-exome sequencing (WES) data from 1382 families with NS.We first identified known NS in mice public databases and scientific publications, these overlapped SRNS genes. Second, used a...
Significance Statement About 40 disease genes have been described to date for isolated CAKUT, the most common cause of CKD during childhood. However, mutations in these explain only 20% cases. The authors performed exome sequencing an international cohort individuals with CAKUT. They identified genetic variants ARHGEF6 (a gene on X chromosome humans that encodes a guanine nucleotide exchange factor) as potential novel this disease. Using multifaceted approach, including cellular and...
Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of chronic kidney disease before age 25 yr. Nephrin, encoded by
Abstract Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of childhood chronic kidney disease. Congenital Finnish type (CNF) (MIM# 256300) caused by biallelic variants in gene NPHS1 , encoding nephrin, an integral component filtration barrier. No causal treatments exist, and children inevitably require replacement therapy. In preparation for therapy (GRT) CNF, we established a quantifiable reproducible phenotypic assessment nephrin-deficient CNF mouse model:...