M
Mark S. Lechner
Researcher at Drexel University
Publications - 5
Citations - 310
Mark S. Lechner is an academic researcher from Drexel University. The author has contributed to research in topics: NIPBL & Cornelia de Lange Syndrome. The author has an hindex of 4, co-authored 5 publications receiving 285 citations.
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Journal ArticleDOI
Multiple Organ System Defects and Transcriptional Dysregulation in the Nipbl+/− Mouse, a Model of Cornelia de Lange Syndrome
Shimako Kawauchi,Anne L. Calof,Rosaysela Santos,Martha E. Lopez-Burks,Clint M. Young,Michelle P. Hoang,Abigail Chua,Taotao Lao,Mark S. Lechner,Jeremy A. Daniel,André Nussenzweig,L. M. Kitzes,Kyoko Yokomori,Benedikt Hallgrímsson,Arthur D. Lander +14 more
TL;DR: Gene expression profiling demonstrated that Nipbl deficiency leads to modest but significant transcriptional dysregulation of many genes, and expression changes at the protocadherin beta (Pcdhb) locus, as well as at other loci, support the view that NIPBL influences long-range chromosomal regulatory interactions.
Journal ArticleDOI
Perturbation of HP1 localization and chromatin binding ability causes defects in sister-chromatid cohesion.
TL;DR: It is indicated that proper HP1 status is required for sister-chromatid cohesion in mammalian cells, and suggested that HP1alpha might be required for chromosome condensation, and a "wavy" chromosome morphology is observed.
Proceedings ArticleDOI
Ontology-Based Scalable and Portable Information Extraction System to Extract Biological Knowledge from Huge Collection of Biomedical Web Documents
TL;DR: The method integrates ontology-based semantic tagging, information extraction and data mining together, automatically learns the patterns based on a few user seed tuples, and then extracts new tuples from the biomedical web documents based on the discovered patterns.
Proceedings ArticleDOI
Extracting and mining protein-protein interaction network from biomedical literature
TL;DR: The experiments of SPIE-DM indicate that the system is very promising for extracting and mining from biomedical literature databases.
Journal Article
Insights Into Cornelia de Lange Syndrome From the Nipbl-Mutant Mouse
Anne L. Calof,Shimako Kawauchi,Rosaysela Santos,Martha E. Lopez-Burks,Michelle P. Hoang,L. M. Kitzes,Taotao Lao,Mark S. Lechner,Benedikt Hallgrímsson,Jeremy A. Daniel,André Nussenzweig,Arthur D. Lander +11 more
TL;DR: A mouse model for CdLS was developed, using mice heterozygous for a gene-trap mutation (Nipbl 564) that is predicted to produce a transcript that terminates before the first coding exon, suggesting upregulation of the wild-type allele.