Results 101 to 110 of about 271,662 (318)

The complexity of dementia development and its comorbidities: The collaborative cross‐mouse population for multivarious tasks approach

Animal Models and Experimental Medicine, EarlyView.
The increasing prevalence of dementia and related neurodegenerative diseases—including Alzheimer's disease, Parkinson's disease, multiple sclerosis, and amyotrophic lateral sclerosis—poses a growing public health challenge. These conditions have traditionally been studied as isolated central nervous system disorders, but emerging evidence points to ...
Osayd Zohud, Iqbal M. Lone, Kareem Midlej, Fuad A. Iraqi   +3 more
wiley   +1 more source

Causal Associations of Obesity With Chronic Kidney Disease and Arterial Stiffness: A Mendelian Randomization Study [PDF]

, 2021
Chaojie Ye, Lijie Kong, Zhiyun Zhao, Mian Li, Shuangyuan Wang, Hong Lin, Yu Xu, Jieli Lu, Yuhong Chen, Yiping Xu, Weiqing Wang, Guang Ning, Yufang Bi, Min Xu, Tiange Wang   +14 more
openalex   +1 more source

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

The identification of distinct protective and susceptibility mechanisms for hip osteoarthritis: findings from a genome-wide association study meta-analysis of minimum joint space width and Mendelian randomisation cluster analyses [PDF]

, 2023
Benjamin G Faber, Monika Frysz, Cindy G. Boer, Daniel S. Evans, Raja Ebsim, Kaitlyn Flynn, Mischa Lundberg, Lorraine Southam, April Hartley, Fiona R. Saunders, Claudia Lindner, J.S. Gregory, R.M. Aspden, Nancy E. Lane, Nicholas C. Harvey, David M. Evans, Eleftheria Zeggini, George Davey Smith, T.F. Cootes, Joyce B. J. van Meurs, John P. Kemp, Jonathan H. Tobias   +21 more
openalex   +1 more source

Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Have Distinct Prediagnostic Blood Biochemical Profiles

Annals of Neurology, EarlyView.
Objective Identifying modifiable factors influencing amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) risk is important for prevention. Blood biomarkers, particularly cholesterol, have been associated with neurodegenerative risk, but findings in ALS are inconsistent, and data on FTD are limited.
Christos V. Chalitsios, Jiali Gao, Carol A.C. Coupland, Julia Hippisley Cox, Martin R. Turner, Alexander G. Thompson   +5 more
wiley   +1 more source

Glucagon‐Like Peptide‐1 Receptor Agonists, Sodium‐Glucose Cotransporter‐2 Inhibitors, and Risk of Autoimmune Rheumatic Diseases

Arthritis &Rheumatology, Accepted Article.
Objective GLP‐1 receptor agonists (GLP‐1RAs) and SGLT2 inhibitors (SGLT2is) facilitate weight loss and exhibit immunomodulatory effects, but their impact on the risk of developing autoimmune rheumatic diseases (ARDs) is unclear. We compared ARD incidence following initiation of GLP‐1RAs, or SGLT2is, vs.
Derin Karacabeyli, Diane Lacaille, Na Lu, Hui Xie, J. Antonio Aviña‐Zubieta   +4 more
wiley   +1 more source

Identification of novel genes regulating the development of the palate

Developmental Dynamics, EarlyView.
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
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

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

Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling

Developmental Dynamics, EarlyView.
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff, Sandra Schrenk, Kara Soroko, Chhiring Sherpa, Ashok Arasu, Damien Reynaud, Elisa Boscolo   +6 more
wiley   +1 more source