Rolf W Stottmann
Affiliation: Cincinnati Children's Hospital Medical Center
Abdelhamed Z, Vuong S, Hill L, Shula C, Timms A, Beier D, et al
. A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice. Development. 2018;145: pubmed publisher
..Collectively, our data provide the first evidence for involvement of Ccdc39 in hydrocephalus and suggest that the proper development of medial wall ependymal cilia is crucial for normal mouse brain development. ..
Driver A, Shumrick C, Stottmann R. Ttc21b Is Required in Bergmann Glia for Proper Granule Cell Radial Migration. J Dev Biol. 2017;5: pubmed publisher
..These results suggest that Ttc21b expression is required for Bergmann glia structure and signaling in the developing cerebellum, and in some contexts, augments rather than attenuates Shh signaling. ..
Cionni M, Menke C, Stottmann R. Novel genetic tools facilitate the study of cortical neuron migration. Mamm Genome. 2016;27:8-16 pubmed publisher
..Together, these represent genetic tools which may facilitate the study of cortical development in a number of different ways. ..
Go D, Stottmann R. The Impact of CRISPR/Cas9-Based Genomic Engineering on Biomedical Research and Medicine. Curr Mol Med. 2016;16:343-52 pubmed
..In this review, we will discuss the impact of CRISPR/Cas9 on biomedical research and its potential implications in medicine. ..
Saal H, Prows C, Guerreiro I, Donlin M, Knudson L, Sund K, et al
. A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia. Hum Mol Genet. 2015;24:3399-409 pubmed publisher
..We therefore conclude that the FRIZZLED2 mutation is a de novo, novel cause for autosomal dominant omodysplasia. ..
Driver A, Kratz L, Kelley R, Stottmann R. Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain. Neurobiol Dis. 2016;91:69-82 pubmed publisher
..These results suggest that abnormally increased levels of specific cholesterol precursors in the Hsd17b7(rudolph) embryo cause cortical dysgenesis by altering patterns of neurogenesis. ..
Gelineau Morel R, Lukacs M, Weaver K, Hufnagel R, Gilbert D, Stottmann R. Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient. Genes (Basel). 2016;7: pubmed
..We report only the second case of congenital cataracts and the first of gut dysmotility in a patient with DYNC1H1, thus expanding the spectrum of disease seen in DYNC1H1 dyneinopathies. ..