A5092757540- Renal Diseases and Glomerulopathies
- Genomics and Rare Diseases
- Renal and related cancers
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Genetic factors in colorectal cancer
- RNA modifications and cancer
- Cancer, Hypoxia, and Metabolism
- Kidney Stones and Urolithiasis Treatments
- Protein Kinase Regulation and GTPase Signaling
- Chronic Kidney Disease and Diabetes
- Cleft Lip and Palate Research
- Congenital heart defects research
- Animal Genetics and Reproduction
- PI3K/AKT/mTOR signaling in cancer
- Genomic variations and chromosomal abnormalities
- Genetic Syndromes and Imprinting
- Craniofacial Disorders and Treatments
- Tracheal and airway disorders
- Lipid Membrane Structure and Behavior
Boston Children's Hospital
2023-2025
Harvard University
2023-2025
University Hospital Bonn
2024
University of Bonn
2024
Boston Children's Museum
2023
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:...
Abstract Orofacial clefting (OFC) is a frequent congenital anomaly and can occur either in the context of underlying syndromes or isolation (nonsyndromic). The two common OFC phenotypes are cleft lip with/without palate (CL/P) only (CPO). In this study, we searched for penetrant CL/P genes, by evaluating de novo copy number variants (CNV) from an exome sequencing dataset 50 nonsyndromic patient-parent trios. We detected heterozygous 86 kb deletion affecting exons 4–11 ZFHX4 , gene previously...
Background Previous studies in mouse, Xenopus and zebrafish embryos show strong tfap2e expression progenitor cells of neuronal neural crest tissues suggesting its involvement specification. However, the role human transcription factor activator protein 2 ( TFAP2E) embryonic central nervous system (CNS), orofacial maxillofacial development is unknown. Methods Through a collaborative work, exome survey was performed families with congenital CNS, anomalies. Exome variant prioritisation prompted...
Saida, Ken; Buerger, Florian; Ottlewski, Isabel; Salmanullah, Daanya; Yu, Seyoung; Kolvenbach, Caroline M.; Lemberg, Katharina; Mansour, Bshara; Mertens, Nils D.; Hölzel, Selina; Elmubarak, Izzeldin; Franken, Gijs A.; Schneider, Ronen; Majmundar, Amar J.; Shril, Shirlee; Hildebrandt, Friedhelm Author Information
Hölzel, Selina; Kolvenbach, Caroline M.; Buerger, Florian; Lemberg, Katharina; Saida, Ken; Yu, Seyoung; Salmanullah, Daanya; Mansour, Bshara; Elmubarak, Izzeldin; Mertens, Nils D.; Shril, Shirlee; Hildebrandt, Friedhelm Author Information
Lemberg, Katharina; Hölzel, Selina; Buerger, Florian; Franken, Gijs A.; Kolvenbach, Caroline M.; Saida, Ken; Salmanullah, Daanya; Deutsch, Konstantin; Hildebrandt, Friedhelm Author Information