Results 141 to 150 of about 314,978 (365)

Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis

Haematologica, 2013
Heterozygosity for dominant-negative STAT1 mutations underlies autosomal dominant Mendelian susceptibility to mycobacterial diseases. Mutations conferring Mendelian susceptibility to mycobacterial diseases have been identified in the regions of the STAT1
Osamu Hirata, Satoshi Okada, Miyuki Tsumura, Reiko Kagawa, Mizuka Miki, Hiroshi Kawaguchi, Kazuhiro Nakamura, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Yoshihiro Takihara, Masao Kobayashi   +10 more
doaj   +1 more source

Early diagnostic value of novel biomarkers for breast cancer therapy‐related cardiac dysfunction

ESC Heart Failure, EarlyView.
Our meta‐analysis revealed significant post‐treatment increases in GDF‐15, CRP, MPO, and PLGF levels (Gal‐3 unchanged) among breast cancer patients. Only elevated MPO levels were significantly associated with an increased risk of cancer therapy‐related cardiac dysfunction (CTRCD).
Zhengwei Wang, Yujuan Wu, Jingyi He, Diansa Gao, Zhong Zuo   +4 more
wiley   +1 more source

Evaluating the causal relationship of Levo-carnitine and risk of schizophrenia: a bidirectional two-sample mendelian randomization study

BMC Psychiatry
Background Schizophrenia is a debilitating mental disorder affecting about 1% of the global population, characterized by significant cognitive impairments and a strong hereditary component.
Haoyuan Qiu, Zicheng Zhong, Tianxing Wu, Haoran Hu, Meijuan Zhou, Zhijun Feng   +5 more
doaj   +1 more source

Gastroesophageal reflux disease and risk of atrial fibrillation/flutter: Implications for heart failure progression

ESC Heart Failure, EarlyView.
Abstract Aims While observational studies suggest an association between gastroesophageal reflux disease (GERD) and atrial fibrillation/flutter (AF/AFL), the causal relationship and mechanisms remain undefined. This study employed Mendelian randomization (MR) to assess bidirectional causal relationships and explore potential implications for heart ...
Wansong Hu, Yingxing Wu, Wanqian Yu, Ping Li   +3 more
wiley   +1 more source

Prevalence of Mendelian Kidney Disease Among Patients With High-Risk APOL1 Genotypes Undergoing Commercial Genetic Testing in the United States

Kidney International Reports
Introduction: Among individuals with high-risk APOL1 genotypes, the lifetime risk of developing kidney failure is ∼15%, indicating that other genetic variants or nongenetic modifiers likely contribute substantially to an individual patient’s risk of ...
Ronaldo da Silva Francisco, Jr., Sumit Punj, Lisa Vincent, Nina Sanapareddy, Vivek Bhalla, Glenn M. Chertow, Dianne Keen-Kim, Vivek Charu   +7 more
doaj   +1 more source

ALTRUISM IN MENDELIAN POPULATIONS DERIVED FROM SIBLING GROUPS: THE HAYSTACK MODEL REVISITED [PDF]

, 1987
David Sloan Wilson
openalex   +1 more source

Integrated trajectories of systolic and diastolic function differentially associate with risk for heart failure with preserved and reduced ejection fraction and proteomic profiles

European Journal of Heart Failure, EarlyView.
Graphical overview of derivation and testing of multiparametric trajectories of cardiac function. This study identified six trajectories of LV systolic and diastolic function from mid‐ to late‐life. Predicted trajectory from single echocardiogram identified four trajectories at differential risk for HFpEF and HFrEF.
Anne Marie Reimer Jensen, James C. Ross, Victoria Arthur, Michael E. Hall, Kunihiro Matsushita, Brandon Lennep, Pamela L. Lutsey, Tor Biering‐Sørensen, Amil M. Shah   +8 more
wiley   +1 more source

Increased Menopausal Age Reduces the Risk of Parkinson's Disease: A Mendelian Randomization Approach

, 2021
Cynthia Kusters, Kimberly C. Paul, Aline Duarte Folle, Adrienne M. Keener, Jeff M. Bronstein, Lars Bertram, Johnni Hansen, Steve Horvath, Janet S. Sinsheimer, Christina M. Lill, Beate Ritz   +10 more
openalex   +2 more sources

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Associations of 35 Serum and Urine Biomarkers With Vascular Dementia—A Mendelian Randomization Study

Brain and Behavior
Background The relationship between serum and urine biomarkers with vascular dementia (VD) has been increasingly highlighted by observational studies. Yet, the causal nature underlying these associations remains elusive.
Xiaomin Zhu, Yanan Hu, Jieshuang Lin, Guifeng Zhuo, Yingrui Huang, Yulan Fu, Ying Zhang, Lin Wu, Wei Chen   +8 more
doaj   +1 more source