User profiles for "author:D J Kwiatkowski"
David J. KwiatkowskiProfessor of Medicine, Harvard Medical School Verified email at rics.bwh.harvard.edu Cited by 94696 |
Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways
DJ Kwiatkowski, BD Manning - Human molecular genetics, 2005 - academic.oup.com
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that is characterized
by benign tumors (hamartomas and hamartias) involving multiple organ systems, due to …
by benign tumors (hamartomas and hamartias) involving multiple organ systems, due to …
Molecular genetic advances in tuberous sclerosis
JP Cheadle, MP Reeve, JR Sampson, DJ Kwiatkowski - Human genetics, 2000 - Springer
Over the past decade, there has been considerable progress in understanding the
molecular genetics of tuberous sclerosis, a disorder characterised by hamartomatous …
molecular genetics of tuberous sclerosis, a disorder characterised by hamartomatous …
Functions of gelsolin: motility, signaling, apoptosis, cancer
DJ Kwiatkowski - Current opinion in cell biology, 1999 - Elsevier
Several new members of the gelsolin family have been discovered in the past year.
Determination of the structure of gelsolin and identification of lysophosphatidic acid as a …
Determination of the structure of gelsolin and identification of lysophosphatidic acid as a …
[PDF][PDF] Comprehensive molecular characterization of muscle-invasive bladder cancer
We report a comprehensive analysis of 412 muscle-invasive bladder cancers characterized
by multiple TCGA analytical platforms. Fifty-eight genes were significantly mutated, and the …
by multiple TCGA analytical platforms. Fifty-eight genes were significantly mutated, and the …
[PDF][PDF] Integrated genomic characterization of papillary thyroid carcinoma
Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer. Here, we
describe the genomic landscape of 496 PTCs. We observed a low frequency of somatic …
describe the genomic landscape of 496 PTCs. We observed a low frequency of somatic …
Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34
M Slegtenhorst, R Hoogt, C Hermans, M Nellist… - Science, 1997 - science.org
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the
widespread development of distinctive tumors termed hamartomas. TSC-determining loci …
widespread development of distinctive tumors termed hamartomas. TSC-determining loci …
[HTML][HTML] Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
H Northrup, DA Krueger, S Roberds, K Smith… - Pediatric …, 2013 - Elsevier
Background Tuberous sclerosis complex is highly variable in clinical presentation and
findings. Disease manifestations continue to develop over the lifetime of an affected …
findings. Disease manifestations continue to develop over the lifetime of an affected …
Using multiplexed assays of oncogenic drivers in lung cancers to select targeted drugs
MG Kris, BE Johnson, LD Berry, DJ Kwiatkowski… - Jama, 2014 - jamanetwork.com
Importance Targeting oncogenic drivers (genomic alterations critical to cancer development
and maintenance) has transformed the care of patients with lung adenocarcinomas. The …
and maintenance) has transformed the care of patients with lung adenocarcinomas. The …
[HTML][HTML] Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American …
NI Lindeman, PT Cagle, MB Beasley, DA Chitale… - Journal of Thoracic …, 2013 - Elsevier
Objective To establish evidence-based recommendations for the molecular analysis of lung
cancers that are that are required to guide EGFR-and ALK-directed therapies, addressing …
cancers that are that are required to guide EGFR-and ALK-directed therapies, addressing …
Caspase-3-generated fragment of gelsolin: effector of morphological change in apoptosis
The caspase-3 (CPP32, apopain, YAMA) family of cysteinyl proteases has been implicated
as key mediators of apoptosis in mammalian cells. Gelsolin was identified as a substrate for …
as key mediators of apoptosis in mammalian cells. Gelsolin was identified as a substrate for …