Results 31 to 40 of about 111,740 (256)

TOMM40 and APOC1 variants differentiate the impacts of the APOE ε4 allele on Alzheimer's disease risk across sexes, ages, and ancestries

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring
INTRODUCTION The variability in apolipoprotein E (APOE) ε4‐attributed susceptibility to Alzheimer's disease (AD) across ancestries, sexes, and ages may stem from the modulating effects of other genetic variants.
Alexander M. Kulminski, Ethan Jain‐Washburn, Ian Philipp, Yury Loika, Elena Loiko, Irina Culminskaya   +5 more
doaj   +1 more source

HLA-G Haplotypes Are Differentially Associated with Asthmatic Features

Frontiers in Immunology, 2018
Human leukocyte antigen (HLA)-G, a HLA class Ib molecule, interacts with receptors on lymphocytes such as T cells, B cells, and natural killer cells to influence immune responses.
Camille Ribeyre, Federico Carlini, Céline René, Céline René, François Jordier, François Jordier, Christophe Picard, Christophe Picard, Jacques Chiaroni, Jacques Chiaroni, Laurent Abi-Rached, Philippe Gouret, Grégory Marin, Grégory Marin, Nicolas Molinari, Nicolas Molinari, Pascal Chanez, Pascal Chanez, Julien Paganini, Delphine Gras, Julie Di Cristofaro, Julie Di Cristofaro   +21 more
doaj   +1 more source

Immune Checkpoint Inhibitor–Related Myositis and Associated Triad Overlap Syndrome

Arthritis Care &Research, EarlyView.
Objective Immune checkpoint inhibitor (ICI) myositis is a rare but a highly morbid condition, particularly with the ICI myositis triad syndrome of myositis, myocarditis, and myasthenia gravis. We report the clinical characteristics of ICI myositis and all‐cause mortality in these patients.
Selene Rubino, Grant W. Cannon, Brian C. Sauer, Jorge Rojas, Gregory J. Stoddard, Gary A. Kunkel, Jessica A. Walsh, Bryant R. England, Joshua F. Baker, Tawnie J. Braaten   +9 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Harnessing γ-TMT Genetic Variations and Haplotypes for Vitamin E Diversity in the Korean Rice Collection

Antioxidants
Gamma-tocopherol methyltransferase (γ-TMT), a key gene in the vitamin E biosynthesis pathway, significantly influences the accumulation of tocochromanols, thereby determining rice nutritional quality.
Aueangporn Somsri, Sang-Ho Chu, Bhagwat Nawade, Chang-Yong Lee, Yong-Jin Park   +4 more
doaj   +1 more source

A Rare Allele of ST5 From Wild Rice Enhances Salt Tolerance in Rice

Advanced Science, EarlyView.
A novel salt‐tolerance gene ST5W, characterized by a unique 36‐bp promoter insertion, is found exclusively in a small subset of Oryza rufipogon and is absent in cultivated rice. Field trials confirm ST5W significantly enhances rice yield across diverse genetic backgrounds under saline conditions.
Meng Xing, Jingfen Huang, Qiaoling Yuan, Ziyi Yang, Yanyan Wang, Mingchao Zhao, Yamin Nie, Rui Xu, Hongge Qian, Wenxi Chen, Qiaoling Zhang, Qi Du, Leiyue Geng, Yapeng Li, Ziyi Chen, Shizhuang Wang, Like Lou, Haiyuan Peng, Chongke Zheng, Xianzhi Xie, Xiaoming Zheng, Lifang Zhang, Lianguang Shang, Jiaqiang Sun, Qian Qian, Qingwen Yang, Weihua Qiao   +26 more
wiley   +1 more source

eQTL Meta‐Analysis Reveals Conserved and Population‐Specific Regulatory Variation Underlying Nutritional Trait Evolution and Domestication in Tomato

Advanced Science, EarlyView.
A comprehensive meta‐analysis of expression quantitative trait loci (eQTLs) across five diverse tomato populations reveals a high‐resolution atlas of transcriptional regulation and uncovers conserved and population‐specific regulatory architectures underlying fruit nutritional quality traits, including flavonoids, sugars, organic acids, carotenoids ...
Jiantao Zhao, Xin Wang, Jing Zhang, Ryan McQuinn, Je Min Lee, Itay Gonda, Ari Feder, Yimin Xu, Baike Wang, Qinghui Yu, Denise M. Tieman, Sanwen Huang, Harry Klee, James J. Giovannoni, Zhangjun Fei   +14 more
wiley   +1 more source

Origin and Distribution of the VRN-A1 Exon 4 and Exon 7 Haplotypes in Domesticated Wheat Species

Agronomy, 2018
The high adaptive potential of modern wheat to a wide range of environmental conditions is determined by genetic changes during domestication. Genetic diversity in VRN1 genes is a key contributor to this adaptability.
Alexandr Muterko, Elena Salina
doaj   +1 more source

Cis‐ and Trans‐Regulatory Factors Independently Shape Phenotypic Heterogeneity of Retinitis Pigmentosa

Advanced Science, EarlyView.
A zebrafish model carrying an identical human RHO S334X allele reveals two independent genetic layers shaping retinitis pigmentosa (RP) severity: a protective 3‐bp cis‐regulatory insertion that attenuates transgene expression, and a dominant trans‐acting modifier that restores a severe phenotype.
Cong Cui, Kotone Nakagawa, Takumi Tateno, Ayaka Dan, Dexin Meng, Yoshihiro Omori, Soma Tomihara, Suzuri Okamoto, Shigeru Sato, Motokazu Tsujikawa   +9 more
wiley   +1 more source

The dystrophinopathies in Costa Rica

Revista de Biología Tropical, 2004
A five-years long study aiming to describe the basic genetic epidemiology of the dystrophinopathies in Costa Rica recruited 31 patients with clinical symptoms of DMD/BMD at the National Children’s Hospital (HNN).
Jorge Azofeifa
doaj