User profiles for Rolf W. Stottmann
Rolf StottmannProfessor of Pediatrics, Nationwide Children's Hospital Verified email at nationwidechildrens.org Cited by 2625 |
THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia
…, TY Besschetnova, A Turbe-Doan, RW Stottmann… - Nature …, 2008 - nature.com
Abstract Characterization of previously described intraflagellar transport (IFT) mouse mutants
has led to the proposition that normal primary cilia are required for mammalian cells to …
has led to the proposition that normal primary cilia are required for mammalian cells to …
Chordin and noggin promote organizing centers of forebrain development in the mouse
RM Anderson, AR Lawrence, RW Stottmann… - 2002 - journals.biologists.com
In this study we investigate the roles of the organizer factors chordin and noggin, which are
dedicated antagonists of the bone morphogenetic proteins(BMPs), in formation of the …
dedicated antagonists of the bone morphogenetic proteins(BMPs), in formation of the …
BMP receptor IA is required in mammalian neural crest cells for development of the cardiac outflow tract and ventricular myocardium
RW Stottmann, M Choi, Y Mishina, EN Meyers… - 2004 - journals.biologists.com
The neural crest is a multipotent, migratory cell population arising from the border of the
neural and surface ectoderm. In mouse, the initial migratory neural crest cells occur at the five-…
neural and surface ectoderm. In mouse, the initial migratory neural crest cells occur at the five-…
Mutation mapping and identification by whole-genome sequencing
…, H Anderson, MJ King, RW Stottmann… - Genome …, 2012 - genome.cshlp.org
Genetic mapping of mutations in model systems has facilitated the identification of genes
contributing to fundamental biological processes including human diseases. However, this …
contributing to fundamental biological processes including human diseases. However, this …
The BMP antagonists Chordin and Noggin have essential but redundant roles in mouse mandibular outgrowth
RW Stottmann, RM Anderson, J Klingensmith - Developmental biology, 2001 - Elsevier
Here we investigate the roles of the Bone Morphogenetic Protein (BMP) antagonists Chordin
and Noggin in development of the mandible, which is derived from the first branchial arch (…
and Noggin in development of the mandible, which is derived from the first branchial arch (…
A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice
Pediatric hydrocephalus is characterized by an abnormal accumulation of cerebrospinal
fluid (CSF) and is one of the most common congenital brain abnormalities. However, little is …
fluid (CSF) and is one of the most common congenital brain abnormalities. However, little is …
[HTML][HTML] The BMP antagonist Noggin promotes cranial and spinal neurulation by distinct mechanisms
RW Stottmann, M Berrong, K Matta, M Choi… - Developmental …, 2006 - Elsevier
Here we characterize the consequences of elevated bone morphogenetic protein (BMP)
signaling on neural tube morphogenesis by analyzing mice lacking the BMP antagonist, Noggin…
signaling on neural tube morphogenesis by analyzing mice lacking the BMP antagonist, Noggin…
[PDF][PDF] Loss of SMPD4 causes a developmental disorder characterized by microcephaly and congenital arthrogryposis
…, M Seri, AC Jansen, RW Stottmann… - The American Journal of …, 2019 - cell.com
Sphingomyelinases generate ceramide from sphingomyelin as a second messenger in
intracellular signaling pathways involved in cell proliferation, differentiation, or apoptosis. …
intracellular signaling pathways involved in cell proliferation, differentiation, or apoptosis. …
Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence
…, RJ Hopkin, MP Coleman, RG Zhai, RW Stottmann - Experimental …, 2019 - Elsevier
The three nicotinamide mononucleotide adenylyltransferase (NMNAT) family members
synthesize the electron carrier nicotinamide adenine dinucleotide (NAD + ) and are essential for …
synthesize the electron carrier nicotinamide adenine dinucleotide (NAD + ) and are essential for …
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
Heterozygous pathogenic variants in POLR1A, which encodes the largest subunit of RNA
Polymerase I, were previously identified as the cause of acrofacial dysostosis, Cincinnati-type. …
Polymerase I, were previously identified as the cause of acrofacial dysostosis, Cincinnati-type. …