Laura S. Schmidt
A5101826881- Renal cell carcinoma treatment
- Renal and related cancers
- Cancer Genomics and Diagnostics
- Cancer, Hypoxia, and Metabolism
- Genetic and Kidney Cyst Diseases
- Epigenetics and DNA Methylation
- Tuberous Sclerosis Complex Research
- Ferroptosis and cancer prognosis
- Liver physiology and pathology
- RNA modifications and cancer
- Cancer-related Molecular Pathways
- PI3K/AKT/mTOR signaling in cancer
- Metabolism, Diabetes, and Cancer
- Medical Imaging and Pathology Studies
- DNA Repair Mechanisms
- Genomics and Chromatin Dynamics
- Hepatocellular Carcinoma Treatment and Prognosis
- Microtubule and mitosis dynamics
- Cancer Immunotherapy and Biomarkers
- Genetic factors in colorectal cancer
- Pancreatic and Hepatic Oncology Research
- Liver Disease Diagnosis and Treatment
- Genomic variations and chromosomal abnormalities
- Chromosomal and Genetic Variations
- Pancreatic function and diabetes
Medical University of Graz
2023-2025
National Institutes of Health
2012-2024
National Cancer Institute
2014-2024
Frederick National Laboratory for Cancer Research
2014-2024
Lee University
2024
University of Nevada, Reno
2024
Science Applications International Corporation (United States)
2005-2023
Center for Cancer Research
2013-2023
National University of the West
2022-2023
University Hospital Carl Gustav Carus
2023
A gene discovered by positional cloning has been identified as the von Hippel-Lindau (VHL) disease tumor suppressor gene. restriction fragment encompassing showed rearrangements in 28 of 221 VHL kindreds. Eighteen these were due to deletions candidate gene, including three large nonoverlapping deletions. Intragenic mutations detected cell lines derived from patients and sporadic renal carcinomas. The is evolutionarily conserved encodes two widely expressed transcripts approximately 6 6.5...
Papillary renal-cell carcinoma, which accounts for 15 to 20% of carcinomas, is a heterogeneous disease that consists various types renal cancer, including tumors with indolent, multifocal presentation and solitary an aggressive, highly lethal phenotype. Little known about the genetic basis sporadic papillary no effective forms therapy advanced exist.We performed comprehensive molecular characterization 161 primary using whole-exome sequencing, copy-number analysis, messenger RNA microRNA...
Renal cell carcinoma (RCC) is not a single disease, but several histologically defined cancers with different genetic drivers, clinical courses, and therapeutic responses. The current study evaluated 843 RCC from the three major histologic subtypes, including 488 clear RCC, 274 papillary 81 chromophobe RCC. Comprehensive genomic phenotypic analysis of subtypes reveals distinctive features each subtype that provide foundation for development subtype-specific management strategies patients...
von Hippel-Lindau disease (VHL) is an inherited neoplastic characterized by a predisposition to develop retinal angiomas, central nervous system hemangioblastomas, renal cell carcinomas, pancreatic cysts, and pheochromocytomas. The VHL gene was recently isolated positional cloning. cDNA encodes 852 nucleotides in 3 exons. unrelated any known families. We identified germline mutations 85/114 (75%) of Clinical heterogeneity well-known feature VHL. families were classified into 2 types based on...
Germline mutation analysis was performed in 469 VHL families from North America, Europe, and Japan. mutations were identified 300/469 (63%) of the tested; 137 distinct intragenic germline detected. Most (124/137) occurred 1-2 families; a few occured four or more families. The common were: delPhe76, Asn78Ser, Arg161Stop, Arg167Gln, Arg167Trp, Leu178Pro. In this large series, it possible to compare effects identical different populations. produced similar cancer phenotypes Caucasian Japanese...
Birt–Hogg–Dubé syndrome, a hamartoma disorder characterized by benign tumors of the hair follicle, lung cysts, and renal neoplasia, is caused germ-line mutations in BHD(FLCN) gene, which encodes tumor-suppressor protein, folliculin (FLCN), with unknown function. The proteins encoded genes responsible for several other syndromes, LKB1, TSC1/2, PTEN, have been shown to be involved mammalian target rapamycin (mTOR) signaling pathway. Here, we report identification FLCN-interacting FNIP1,...
Recently, mutations in the Met tyrosine kinase receptor have been identified both hereditary and sporadic forms of papillary renal carcinoma. We introduced corresponding into met cDNA examined effect each mutation biochemical biological assays. find that mutants exhibit increased levels phosphorylation enhanced activity toward an exogenous substrate when compared with wild-type Met. Moreover, NIH 3T3 cells expressing mutant molecules form foci vitro are tumorigenic nude mice. Enzymatic...
Rationale: Birt-Hogg-Dubé syndrome (BHDS) is an autosomal, dominantly inherited genodermatosis that predisposes to fibrofolliculomas, kidney neoplasms, lung cysts, and spontaneous pneumothorax.Objectives: We evaluated 198 patients from 89 families with BHDS characterize the risk factors for pneumothorax genotype–pulmonary associations.Methods: Helical computed tomography scans of chest were used screen pulmonary abnormalities. BHD mutation data associations. examined relationship categorical...
No AccessJournal of UrologyAdult Urology1 Dec 2012Succinate Dehydrogenase Kidney Cancer: An Aggressive Example the Warburg Effect in Cancer Christopher J. Ricketts, Brian Shuch, Cathy D. Vocke, Adam R. Metwalli, Gennady Bratslavsky, Lindsay Middelton, Youfeng Yang, Ming-Hui Wei, Stephen E. Pautler, James Peterson, Catherine A. Stolle, Berton Zbar, Maria Merino, Laura S. Schmidt, Peter Pinto, Ramaprasad Srinivasan, Karel Pacak, and W. Marston Linehan RickettsChristopher Ricketts Urologic...
No AccessJournal of UrologyAdult Urology: Oncology: Renal/Upper Tract/Bladder1 May 2005EVALUATION AND MANAGEMENT OF RENAL TUMORS IN THE BIRT-HOGG-DUBÉ SYNDROMEis corrected byERRATA CHRISTIAN P. PAVLOVICH, ROBERT L. GRUBB, KATHLEEN HURLEY, GLADYS M. GLENN, JORGE TORO, LAURA S. SCHMIDT, CARLOS TORRES-CABALA, MARIA J. MERINO, BERTON ZBAR, PETER CHOYKE, McCLELLAN WALTHER, and W. MARSTON LINEHAN PAVLOVICHCHRISTIAN PAVLOVICH , GRUBBROBERT GRUBB HURLEYKATHLEEN HURLEY GLENNGLADYS GLENN TOROJORGE...