نتایج جستجو برای: rora

تعداد نتایج: 204  

2015
Daniel F. Kripke Lawrence E. Kline Caroline M. Nievergelt Sarah S. Murray Farhad F. Shadan Arthur Dawson J. Steven Poceta John Cronin Shazia M. Jamil Gregory J. Tranah Richard T. Loving Alexandra P. Grizas Elizabeth K. Hahn

OBJECTIVE The diagnostic boundaries of sleep disorders are under considerable debate. The main sleep disorders are partly heritable; therefore, defining heritable pathophysiologic mechanisms could delineate diagnoses and suggest treatment. We collected clinical data and DNA from consenting patients scheduled to undergo clinical polysomnograms, to expand our understanding of the polymorphisms as...

Journal: :Human molecular genetics 2015
Ursula M Schick Paul L Auer Joshua C Bis Honghuang Lin Peng Wei Nathan Pankratz Leslie A Lange Jennifer Brody Nathan O Stitziel Daniel S Kim Christopher S Carlson Myriam Fornage Jeffery Haessler Li Hsu Rebecca D Jackson Charles Kooperberg Suzanne M Leal Bruce M Psaty Eric Boerwinkle Russell Tracy Diego Ardissino Svati Shah Cristen Willer Ruth Loos Olle Melander Ruth Mcpherson Kees Hovingh Muredach Reilly Hugh Watkins Domenico Girelli Pierre Fontanillas Daniel I Chasman Stacey B Gabriel Richard Gibbs Deborah A Nickerson Sekar Kathiresan Ulrike Peters Josée Dupuis James G Wilson Stephen S Rich Alanna C Morrison Emelia J Benjamin Myron D Gross Alex P Reiner

C-reactive protein (CRP) concentration is a heritable systemic marker of inflammation that is associated with cardiovascular disease risk. Genome-wide association studies have identified CRP-associated common variants associated in ∼25 genes. Our aims were to apply exome sequencing to (1) assess whether the candidate loci contain rare coding variants associated with CRP levels and (2) perform a...

2013
Sajjad Rafiq William Tapper Andrew Collins Sofia Khan Ioannis Politopoulos Sue Gerty Carl Blomqvist Fergus J. Couch Heli Nevanlinna Jianjun Liu Diana Eccles

Genome-Wide Association Studies (GWAS) have begun to investigate associations between inherited genetic variations and breast cancer prognosis. Here, we report our findings from aGWAS conducted in 536 patients with early-onset breast cancer aged 40 or less at diagnosis and with a mean follow-up period of 4.1 years (SD1⁄4 1.96). Patients were selected from the Prospective Study of Outcomes in Sp...

2013
Tomomitsu Tahara Shinji Maegawa Woonbok Chung Judith Garriga Jaroslav Jelinek Marcos R. H. Estécio Tomoyuki Shibata Ichiro Hirata Tomiyasu Arisawa Jean-Pierre J. Issa

Whole blood DNA methylation analysis has been proposed to be a risk marker for cancer that can be used to target patients for preventive interventions. To test this, we examined whole blood DNA methylation of 16 CpG island promoters and LINE1 repetitive element in gastric cancer (GC) patients and control subjects. Bisulfite pyrosequencing was used to quantify the methylation of 14 CpG island pr...

2017
Miko Valori Lilja Jansson Anna Kiviharju Pekka Ellonen Hanna Rajala Shady Adnan Awad Satu Mustjoki Pentti J. Tienari

Somatic mutations have a central role in cancer but their role in other diseases such as autoimmune disorders is poorly understood. Earlier work has provided indirect evidence of rare somatic mutations in autoreactive T-lymphocytes in multiple sclerosis (MS) patients but such mutations have not been identified thus far. We analysed somatic mutations in blood in 16 patients with relapsing MS and...

2009
Anita Woods Claudine G James Guoyan Wang Holly Dupuis Frank Beier

Elucidating the signalling pathways that regulate chondrocyte differentiation, such as the actin cytoskeleton and Rho GTPases, during development is essential for understanding of pathological conditions of cartilage, such as chondrodysplasias and osteoarthritis. Manipulation of actin dynamics in tibia organ cultures isolated from E15.5 mice results in pronounced enhancement of endochondral bon...

2012
Mario U. Manto Patrice Jissendi

The study of the links and interactions between development and motor learning has noticeable implications for the understanding and management of neurodevelopmental disorders. This is particularly relevant for the cerebellum which is critical for sensorimotor learning. The olivocerebellar pathway is a key pathway contributing to learning of motor skills. Its developmental maturation and remode...

2014
André F. S. Amaral

DO PESTICIDES CAUSE ASTHMA? Pesticides are chemical or biological agents used to kill or incapacitate unwanted organisms both indoors and outdoors. In and around the home, these agents are commonly and increasingly used to control rats, ants, cockroaches, flies, moths, mites, weeds, and molds. Pesticides are usually grouped into families not only depending on the organism they target (e.g., fun...

2015
Michelle Cotterchio Elizabeth Lowcock Zoe Bider-Canfield Mathieu Lemire Celia Greenwood Steven Gallinger Thomas Hudson

BACKGROUND Many epidemiology studies report that atopic conditions such as allergies are associated with reduced pancreas cancer risk. The reason for this relationship is not yet understood. This is the first study to comprehensively evaluate the association between variants in atopy-related candidate genes and pancreatic cancer risk. METHODS A population-based case-control study of pancreas ...

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