CRC 1453 Seminar Series - Distinguished Speaker Professor Friedhelm Hildebrandt – Harvard Medical School; Boston Children’s Hospital
Topic: Precision Medicine in Early-Onset Chronic Kidney Disease
(2022) Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations. Am J Hum Genet, doi: 10.1016/j.ajhg.2022.03.015.
(2022) The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies. Hum Mol Genet, doi: 10.1093/hmg/ddac027. Epub ahead of print.
(2020) Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. Hum Mutat, doi: 10.1002/humu.24127.
(2017) Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Nat Genet, doi: 10.1038/ng.3871.
(2016) Pronephric tubule morphogenesis in zebrafish depends on Mnx mediated repression of irx1b within the intermediate mesoderm. Dev Biol, doi: 10.1016/j.ydbio.2015.10.014.
(2011) The dyad symmetry element of Epstein-Barr virus is a dominant but dispensable replication origin. PLoS One, doi: 10.1371/journal.pone.0018609.
(2010) The latent origin of replication of Epstein-Barr virus directs viral genomes to active regions of the nucleus. J Virol, doi: 10.1128/JVI.01909-09.
(2009) A critical role for myoglobin in zebrafish development. Int J Dev Biol, doi: 10.1387/ijdb.082651dv.
(2009) Modulation of the biological properties of aspirin by formation of a bioorganometallic derivative. Angew Chem Int Ed Engl, doi: 10.1002/anie.200803347.
(2008) The lim domain only protein 7 is important in zebrafish heart development. Dev Dyn, doi: 10.1002/dvdy.21807.
(2008) Developmental expression of the alpha-skeletal actin gene. BMC Evol Biol, doi: 10.1186/1471-2148-8-166.
(2007) Characterization of the Enigma family in zebrafish. Dev Dyn, doi: 10.1002/dvdy.21346.
(2007) Comparative analysis of splice form-specific expression of LIM Kinases during zebrafish development. Gene Expr Patterns, doi: 10.1016/j.modgep.2006.12.005.
(2007) Gene expression patterns of the ALP family during zebrafish development. Gene Expr Patterns, doi: 10.1016/j.modgep.2006.09.001.
(2006) Identification of new human origins of DNA replication by an origin-trapping assay. Mol Cell Biol, doi: 10.1128/MCB.01392-06.
(2003) Complex protein-DNA dynamics at the latent origin of DNA replication of Epstein-Barr virus. J Cell Sci, doi: 10.1242/jcs.00708.