A5026501505- DNA Repair Mechanisms
- Hedgehog Signaling Pathway Studies
- Carcinogens and Genotoxicity Assessment
- Nuclear Structure and Function
- CRISPR and Genetic Engineering
- RNA Research and Splicing
- Genomics and Chromatin Dynamics
- Chromosomal and Genetic Variations
- Cephalopods and Marine Biology
- Cardiomyopathy and Myosin Studies
- Neurobiology and Insect Physiology Research
- Epigenetics and DNA Methylation
- Fibroblast Growth Factor Research
- Viral Infections and Immunology Research
- Neurogenetic and Muscular Disorders Research
- RNA regulation and disease
- Genetics and Neurodevelopmental Disorders
- Race, Genetics, and Society
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genetic and rare skin diseases.
- Oral and gingival health research
- Porphyrin Metabolism and Disorders
- Wnt/β-catenin signaling in development and cancer
- Ocular Disorders and Treatments
- Marine Biology and Environmental Chemistry
University of Münster
2014-2021
Oregon Health & Science University
1995-2008
Medford Radiology Group
2002
Justus-Liebig-Universität Gießen
1987-1998
Observatoire Océanologique de Banyuls-sur-Mer
1991
More than 20 genes have been reported to cause idiopathic and familial dilated cardiomyopathy (IDC/FDC), but the frequency of genetic causation remains poorly understood.Blood samples were collected DNA prepared from 313 patients, 183 with FDC 130 IDC. Genomic underwent bidirectional sequencing six genes, mutation carriers followed up by evaluation additional family members. We identified in 36 probands, 31 unique protein-altering variants (11.5% overall) that not 253 control subjects (506...
Although there exists compelling genetic evidence for a homologous recombination-independent pathway repair of interstrand cross-links (ICLs) involving translesion synthesis (TLS), biochemical support this model is lacking. To identify DNA polymerases that may function in TLS past ICLs, oligodeoxynucleotides were synthesized containing site-specific ICLs which the linkage was between N(2)-guanines, similar to formed by mitomycin C and enals. Here, data are presented mammalian cell...
ABSTRACT All morphogens of the Hedgehog (Hh) family are synthesized as dual-lipidated proteins, which results in their firm attachment to surface cell they were produced. Thus, Hh release into extracellular space requires accessory protein activities. We suggested previously that proteolytic removal N- and C-terminal lipidated peptides (shedding) could be one such activity. More recently, secreted glycoprotein Scube2 (signal peptide, cubulin domain, epidermal-growth-factor-like 2) was also...
Abstract Decision making in cellular ensembles requires the dynamic release of signaling molecules from producing cells into extracellular compartment. One important example that require regulated order to signal over several cell diameters is Hedgehog (Hh) family, because all Hhs are synthesized as dual-lipidated proteins firmly tether outer membrane leaflet produces them. Factors for vertebrate Hh family member Sonic (Shh) include cell-surface sheddases remove lipidated terminal peptides,...
Journal Article Spontaneous deletion in the FMR1 gene a patient with fragile X syndrome and cherubism Get access Franklin Quan, Quan 1DNA Diagnostic LaboratoryPortland OR 97201, USA2Department of Molecular Medical Genetics, Oregon Health Sciences UniversityPortland USA3Shriners Hospital for Crippled ChildrenPortland USA Search other works by this author on: Oxford Academic PubMed Google Scholar Marcus Grompe, Grompe 2Department Petra Jakobs, Jakobs Bradley W. Popovich 1,2,3,* *To whom...
ABSTRACT The Sonic hedgehog (Shh) pathway controls embryonic development and tissue homeostasis after birth. Long-standing questions about this include how the dual-lipidated, firmly plasma membrane-associated Shh ligand is released from producing cells to signal distant target resistance–nodulation–division transporter Dispatched 1 (Disp, also known as Disp1) regulates process. Here, we show that inactivation of Disp in Shh-expressing human impairs proteolytic release its lipidated terminal...
Fanconi anemia (FA) is an autosomal recessive disease for which at least four complementation groups exist. Recently the gene that corrects defect in group C cells (FACC) has been cloned. We have previously identified a common mutation FACC gene, accounts majority of FA cases Ashkenazi Jewish individuals. here describe use allele-specific oligonucleotide (ASO) hybridization to determine frequency this among additional patients and carrier population. The IVS4 + 4A → T allele was found on...
Proteolytic processing of cell-surface-bound ligands, called shedding, is a fundamental system to control cell-cell signaling. Yet, our understanding how shedding regulated still incomplete. One way increase the dual-lipidated membrane-associated Sonic hedgehog (Shh) density substrate and sheddase. This releases also activates Shh by removal lipidated inhibitory N-terminal peptides from receptor binding sites. release activation enhanced Scube2 [signal sequence, cubulin (CUB) domain,...
The Bloom protein (BLM) and Topoisomerase IIIα are found in association with proteins of the Fanconi anemia (FA) pathway, a disorder manifesting increased cellular sensitivity to DNA crosslinking agents. In order determine if reflects functional interaction for maintenance genome stability, we have analyzed effects siRNA-mediated depletion human cells. Depletion or BLM leads radial formation, as is seen FA. epistatic FA pathway suppression formation response interstrand crosslinks since...
Sonic hedgehog (Shh) signaling plays a tumor-promoting role in many epithelial cancers. Cancer cells produce soluble Shh that signals to distant stromal express the receptor Patched (Ptc). These receiving respond by producing other factors promote cancer cell growth, generating positive feedback loop. To interfere with reinforced signaling, we examined potential of defined heparin and heparan sulfate (HS) polysaccharides block solubilization Ptc binding. We confirm vitro vivo proteolytic...