A5023066429- Parkinson's Disease Mechanisms and Treatments
- Inflammatory Bowel Disease
- Plant and animal studies
- Insect and Pesticide Research
- Insect and Arachnid Ecology and Behavior
- Autism Spectrum Disorder Research
- Voice and Speech Disorders
- Microscopic Colitis
- Infant Health and Development
- Hearing, Cochlea, Tinnitus, Genetics
- Connective tissue disorders research
- Adrenal and Paraganglionic Tumors
- Wnt/β-catenin signaling in development and cancer
- Vagus Nerve Stimulation Research
- Peptidase Inhibition and Analysis
- Nuclear Receptors and Signaling
- Nerve injury and regeneration
- EEG and Brain-Computer Interfaces
- Neuroscience and Neural Engineering
- Immunodeficiency and Autoimmune Disorders
- Neurogenetic and Muscular Disorders Research
- Electoral Systems and Political Participation
- Mitochondrial Function and Pathology
- Intestinal and Peritoneal Adhesions
- Legal Education and Practice Innovations
University of Wisconsin–Madison
2021-2024
Cedars-Sinai Medical Center
2021
Stanford University
2018-2021
Praxis für Humangenetik Tübingen
2021
CeGaT (Germany)
2014-2018
Vanderbilt University Medical Center
2018
Max Planck Institute for Developmental Biology
2014
Heinrich Heine University Düsseldorf
2010-2013
Ludwig-Maximilians-Universität München
2006
Space Research Institute
1995
Osteoarthritis (OA) is a degenerative joint disease involving both cartilage and synovium. The canonical Wnt/β-catenin pathway, which activated in OA, emerging as an important regulator of tissue repair fibrosis. This study seeks to examine Wnt pathway effects on synovial fibroblasts articular chondrocytes well the therapeutic inhibition OA severity. Mice underwent destabilization medial meniscus surgery were treated by intra-articular injection with XAV-939, small-molecule inhibitor...
Deciphering the evolutionary processes driving nucleotide variation in multiallelic genes is limited by number of genetic systems which such occur. The complementary sex determiner (csd) gene honey bee Apis mellifera an informative example for studying allelic diversity and underlying forces a well-described model balancing selection. Acting as primary signal determination, diploid individuals heterozygous csd develop into females, whereas homozygotes are males that have zero fitness....
In the 2019 publication 'To be or not to pink (1): contradictory findings in an animal model for Parkinson disease' by de Haas et al., 1 authors presented important data with regard discrepancies number of substantia nigra dopamine neurons and extracellular striatal concentrations reported their laboratory others Pink1 À/À rat disease.We agree interpretation this aspect disease.However, analysis, excluded alternative perspective that disease encompasses many other underlying mechanisms...
The most remarkable outcome of a gene duplication event is the evolution novel function. Little information exists on how rise function affects its paralogous sister copy, however. We studied feminizer (fem) from which complementary sex determiner (csd) recently derived by tandem within honey bee (Apis) lineage. Previous studies showed that fem retained determination function, whereas csd established new primary signal determination. observed specific reduction nonsynonymous to synonymous...
Chudley–McCullough syndrome (CMS) is a rare autosomal recessive disorder characterized by sensorineural deafness, agenesis of the corpus callosum, frontal polymicrogyria, interhemispheric cyst, and ventricular enlargement. CMS caused mutations in <i>GPSM2</i> gene, but until now no more than eight different are on record. We describe two dizygotic twins with novel homozygous loss-of-function mutation (c.1093C > T; p.Arg365*). While one child developed hydrocephalus-prompting shunt...
Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive disease that causes progressive joint stiffness and pain. It associated with loss-of-function mutations in the WISP3 gene. We describe two sisters suffering from PPD whom molecular genetic analysis revealed homozygous deletion of exon 1 5′UTR This first time gross has been described as causal mutation PPD.
Objectives/Hypothesis Voice disorders in Parkinson's disease (PD) are early‐onset, manifest the preclinical stages of disease, and negatively impact quality life. The complete loss function PTEN‐induced kinase 1 gene ( Pink1 ) causes a genetic form autosomal recessive PD. Modeled after human inherited mutation, −/− rat demonstrates significant cranial sensorimotor dysfunction including declines ultrasonic vocalizations. However, underlying genetics vocal fold thyroarytenoid (TA) muscle that...
Parkinson disease (PD) is the fastest growing neurodegenerative disease. The molecular pathology of PD in prodromal phase poorly understood; as such, there are no specific prognostic or diagnostic tests. A validated Pink1 genetic knockout rat was used to model early-onset and progressive PD. Male
Parkinson's disease (PD) is a progressive, degenerative that affects nearly 10 million people worldwide. Hallmark limb motor signs and dopamine depletion have been well studied; however, few studies evaluating early stage, prodromal biology exist. Pink1-/- rats, rodent model of PD mitochondrial dysfunction, exhibit stage behavioral deficits, including vocal communication anxiety, progress during mid-to-late adulthood (6-12 months age). Yet, the biological pathways mechanisms lead to...
Objectives and hypothesis Vocal dysfunction, including hypophonia, in Parkinson disease (PD) manifests the prodromal period significantly impacts an individual's quality of life. Data from human studies suggest that pathology leading to vocal deficits may be structurally related larynx its function. The Pink1 −/− rat is a translational model used study pathogenesis context early‐stage mitochondrial dysfunction. primary objective this work was identify differentially expressed genes...
Abstract: Remarkable preclinical progress and achievements in the isolation characterization of stem cells from different sources have been made, together with ability to control proliferation differentiation vitro. Researchers physicians pin their hope on develop novel approaches regenerative medicine. Stem cell therapy is no longer a scientific discipline laboratory or animal models only, as it already performed routinely human therapeutical clinical treatment for hematological...
We report an extremely rare case of combined classical and periodontal Ehlers−Danlos syndrome (EDS) with early severe periodontitis a generalized lack attached gingiva. A German family EDS was investigated by physical dental evaluation exome Sanger sequencing. Due to the specific phenotype in affected child, additional diagnosis suspected. Physical genetic examination two three unaffected members revealed heterozygous mutation COL5A1 (c.1502del; p.Pro501Leufs*57). Additional major clinical...
Cushing syndrome (CS) is a rare disease in children, frequently associated with subtle or periodic symptoms that may delay its diagnosis. Weight gain and growth failure, the hallmarks of hypercortisolism pediatrics, be inconsistent, especially ACTH-independent forms CS. Primary pigmented nodular adrenocortical (PPNAD) rarest form CS, can endocrine nonendocrine tumors, forming Carney complex (CNC). Recently, phenotype/genotype correlations have been described particular CNC where PPNAD...
Prodromal signs of Parkinson's disease (PD), including vocal communication deficits, are poorly understood and do not respond adequately to current pharmacologic treatments. Norepinephrine dysfunction is involved early in PD; thus, drug therapies targeting norepinephrine may be useful as a treatment prodromal signs. This study used validated, translational rodent model PD, the male
Introduction: Patient reported outcomes (PRO2) are an easily obtained, non-invasive measure of disease activity for patients diagnosed with ulcerative colitis (UC). However, PRO2 scores have variable reliability endoscopic scoring systems such as the Mayo Endoscopic Score (MES). The aim this study was to determine if there were differences in correlation between assessments and MES UC index severity (UCEIS). Methods: Patients seen at a tertiary IBD referral center enrolled prospective...