Results 1 to 10 of about 54,045 (118)

Building access to linked data for program evaluation: lessons and opportunities from the evaluation of a pan-Canadian skills training initiative [PDF]

International Journal of Population Data Science
In recent years, Canada’s statistical agency (Statistics Canada) has developed sophisticated linkage infrastructure through their Social Data Linkage Environment (SDLE), linking internal data sets held by Statistics Canada and external data held by ...
Max Palamar, Sandra Nkusi
doaj   +2 more sources

CDK2 inhibition enhances CDK4/6 inhibitor antitumor activity in comprehensive breast cancer PDX model screen [PDF]

npj Breast Cancer
Aberrant cyclin-dependent kinase 2 (CDK2) activity is implicated as a resistance mechanism to CDK4/6 inhibitors (CDK4/6i) in hormone receptor–positive (HR+)/human epidermal growth factor receptor 2-negative (HER2−) breast cancer.
Nealia C. House, Maxine M. Chen, Sima Khazaei, Victoria Brown, Philip Ramsden, David H. Peng, Sydney Moore, Liang Yuan, Rentian Wu, Fangyang Wang, Linjie Luo, Ningping Feng, Christopher A. Bristow, Timothy A. Yap, Khandan Keyomarsi, Joseph R. Marszalek, Scott Ribich, Mikael L. Rinne, Lakshmi B. Muthuswamy, Kerrie L. Faia   +19 more
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Evaluation of Protein Kinase cAMP-Activated Catalytic Subunit Alpha as a Therapeutic Target for Fibrolamellar Carcinoma

Gastro Hep Advances, 2023
Background and Aims: Fibrolamellar carcinoma (FLC) is a rare, difficult-to-treat liver cancer primarily affecting pediatric and adolescent patients, and for which precision medicine approaches have historically not been possible.
Stefanie S. Schalm, Erin O’Hearn, Kevin Wilson, Timothy P. LaBranche, Grace Silva, Zhuo Zhang, Lucian DiPietro, Neil Bifulco, Richard Woessner, Nicolas Stransky, Darshan Sappal, Robert Campbell, Riadh Lobbardi, Michael Palmer, Joseph Kim, Chaoyang Ye, Marion Dorsch, Christoph Lengauer, Timothy Guzi, Vivek Kadambi, Andrew Garner, Klaus P. Hoeflich   +21 more
doaj   +1 more source

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

Orphanet Journal of Rare Diseases, 2021
Background Skeletal dysplasia is typically diagnosed using a combination of radiographic imaging, clinical examinations, and molecular testing. Identifying a molecular diagnosis for an individual with a skeletal dysplasia can lead to improved clinical ...
Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, Matti Hero, Inka Saarinen, Liisa Pelttari, Kimberly Gall, Satu Valo, Johanna M. Huusko, Jonna Tallila, Johanna Sistonen, Juha Koskenvuo, Tero-Pekka Alastalo   +12 more
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Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients

Frontiers in Cardiovascular Medicine, 2023
BackgroundFamilial dilated cardiomyopathy (DCM) causes heart failure and may lead to heart transplantation. DCM is typically a monogenic disorder with autosomal dominant inheritance.
Krista Heliö, Marcos Cicerchia, Julie Hathaway, Johanna Tommiska, Johanna Huusko, Inka Saarinen, Lotta Koskinen, Mikko Muona, Ville Kytölä, Janica Djupsjöbacka, Massimiliano Gentile, Pertteli Salmenperä, Tero-Pekka Alastalo, Christian Steinberg, Tiina Heliö, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo   +17 more
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Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

BMC Cardiovascular Disorders, 2021
Background Genetic testing in hypertrophic cardiomyopathy (HCM) is a published guideline-based recommendation. The diagnostic yield of genetic testing and corresponding HCM-associated genes have been largely documented by single center studies and ...
Julie Hathaway, Krista Heliö, Inka Saarinen, Jonna Tallila, Eija H. Seppälä, Sari Tuupanen, Hannu Turpeinen, Tiia Kangas-Kontio, Jennifer Schleit, Johanna Tommiska, Ville Kytölä, Miko Valori, Mikko Muona, Johanna Sistonen, Massimiliano Gentile, Pertteli Salmenperä, Samuel Myllykangas, Jussi Paananen, Tero-Pekka Alastalo, Tiina Heliö, Juha Koskenvuo   +20 more
doaj   +1 more source

GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy

Frontiers in Genetics, 2021
Background: Familial dilated cardiomyopathy (DCM) is a monogenic disorder typically inherited in an autosomal dominant pattern. We have identified two Finnish families with familial cardiomyopathy that is not explained by a variant in any previously ...
Krista Heliö, Mikko I. Mäyränpää, Inka Saarinen, Saija Ahonen, Heidi Junnila, Johanna Tommiska, Sini Weckström, Miia Holmström, Mia Toivonen, Kjell Nikus, Kjell Nikus, Julie Hathaway, Pauli Siivonen, Mikko Muona, Johanna Sistonen, Pertteli Salmenperä, Massimiliano Gentile, Jussi Paananen, Samuel Myllykangas, Tero-Pekka Alastalo, Tiina Heliö, Juha Koskenvuo   +21 more
doaj   +1 more source

Clinical efficacy comparison of avapritinib with other tyrosine kinase inhibitors in gastrointestinal stromal tumors with PDGFRA D842V mutation: a retrospective analysis of clinical trial and real-world data

BMC Cancer, 2021
Background Avapritinib, a potent inhibitor of KIT and platelet-derived growth factor receptor A (PDGFRA) tyrosine kinases, has demonstrated unprecedented clinical activity in PDGFRA D842V-mutant gastrointestinal stromal tumors (GIST).
Margaret von Mehren, Michael C. Heinrich, Hongliang Shi, Sergio Iannazzo, Raymond Mankoski, Saša Dimitrijević, Gerard Hoehn, Silvia Chiroli, Suzanne George   +8 more
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Arginase 1 Deficiency: using genetic databases as a tool to establish global prevalence

Orphanet Journal of Rare Diseases, 2022
Background/objective Arginase 1 Deficiency (ARG1-D) is a rare inherited metabolic disease with progressive, devastating neurological manifestations with early mortality and high unmet need.
C. Catsburg, S. Anderson, N. Upadhyaya, M. Bechter   +3 more
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Psychometric evaluation of the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF) in a phase 2 clinical study

Orphanet Journal of Rare Diseases, 2021
Background Indolent systemic mastocytosis (ISM) is a rare, clonal mast cell neoplasm characterized by severe, unpredictable symptoms. The Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF) items compose a Total Symptom Score (TSS ...
Brad Padilla, Alan L. Shields, Fiona Taylor, Xiaoran Li, Jeffrey Mcdonald, Tanya Green, Anthony L. Boral, Hui-Min Lin, Cem Akin, Frank Siebenhaar, Brenton Mar   +10 more
doaj   +1 more source