Results 311 to 320 of about 593,238 (360)

Genetic architecture of thermotolerance traits in beef cattle: a novel integration of SNP and breed-of-origin effects. [PDF]

Front Genet
Zayas GA, Santos Rojas C, Rodriguez EE, Hernandez AS, Beard AM, Rafiq F, Sarlo Davila KM, Mateescu RG.   +7 more
europepmc   +1 more source

Cataract‐Causing Mutant R188C of βB2 Crystallin With Low Structural Stability is Sensitive to Environmental Stresses and Prone to Aggregates Formation

Exploration, EarlyView.
This study investigated the role of the βB2‐crystallin c.562C>T (p.R188C) mutation in congenital cataract. Clinical pedigree analysis, combined with whole‐exome sequencing (WES), identified this pathogenic variant. Bioinformatic analyses predicted destabilization of the mutant protein’s tertiary structure, potentially impairing its function.
Yibo Yu, Silong Chen, Ying Zhang, Hang Song, Jiarui Guo, Chengpeng Wu, Wei Wu, Jingjie Xu, Xiaoyu Cheng, Chenqi Luo, Jing Guo, Yip Chee Chew, Ke Yao, Xiangjun Chen, Lidan Hu   +14 more
wiley   +1 more source

Mutational Analysis of Colistin-Resistant <i>Pseudomonas aeruginosa</i> Isolates: From Genomic Background to Antibiotic Resistance. [PDF]

Pathogens
De Sousa T, Wang HY, Lin TW, Caniça M, Ramos MJN, Santos D, Silva C, Saraiva S, Beyrouthy R, Bonnet R, Hébraud M, Igrejas G, Poeta P.   +12 more
europepmc   +1 more source

Exploring the Neuroprotective Role of Selenium: Implications and Perspectives for Central Nervous System Disorders

Exploration, EarlyView.
Selenium (Se) is a crucial element in selenoproteins, key biomolecules for physiological function in vivo. Central nervous system can express all 25 kinds of selenoproteins, which protect neurons by reducing oxidative stress and inflammatory response. Neuroprotection is being investigated through the biological study of Se.
Guanning Huang, Ying Liu, Xiadong Zhu, Lizhen He, Tianfeng Chen   +4 more
wiley   +1 more source

Genomic selection of maize test-cross hybrids leveraged by marker sampling. [PDF]

Plant Genome
Bernardeli A, Guilhen JHS, Oliveira ICM, Guimarães LJM, Borém A, Jarquin D, Pastina MM.   +6 more
europepmc   +1 more source

Multi‐Cohort Analysis Reveals Genetic Predispositions to Clonal Hematopoiesis as Mutation‐Specific Risk Factors for Stroke

Advanced Genetics, Volume 6, Issue 1, March 2025.
This study comprehensively evaluated the differential effect of clonal hematopoiesis (CH) mutations on the risk of various stroke subtypes and functional recovery. It shows that TET2 is associated with small vessel stroke possibly via a pro‐inflammatory pathway. Abstract Recent observational studies have found an association between Clonal Hematopoesis
Shuyang Lin, Yang E. Li, Yan Wang
wiley   +1 more source

SNP-RFLP Markers for the Study of <i>Arabidopsis lyrata</i>. [PDF]

Ecol Evol
Liu M, Chambers A, Chambers B, Aleman A, Stift M, Mamonova K, Freeland J, Dorken M.   +7 more
europepmc   +1 more source

The Impact of the Rs1044457 Polymorphism in the CMPK1 Gene on the Response Rate to Gemcitabine‐Based Chemotherapy in Metastatic NSCLC Patients

Advanced Genetics, EarlyView.
Lung cancer is the leading cause of cancer‐related mortality worldwide. Among its types, non‐small cell lung cancer (NSCLC) accounts for the majority of cases. This study focuses on investigating genetic mutations that may influence the response to gemcitabine, a chemotherapy drug commonly used to treat this condition.
Ghassan Saod Saleh, Fouad Kadhim Gatea, Qasim Sharhan Al‐Mayah, Hayder Lazim   +3 more
wiley   +1 more source

Genetic polymorphism of novel SNP rs5006884 in OR51B6 and SNP rs4499252 in AHSP among transfusion-dependent and non-transfusion-dependent β-thalassemia/Hb E patients in Thailand: a multivariate analysis of clinical and genetic polymorphism. [PDF]

Ann Hematol
Mahabhol C, Yothindamrongkul L, Nuntanajaroenkul N, Nawasod P, Tepakhan W, Karnpean R, Sowithayasakul P, Makruasi N, Trongwongsa T, Jomoui W.   +9 more
europepmc   +1 more source

Pathways to Progressive Disability in Multiple Sclerosis: The Role of Glial Cells in Chronic CNS Inflammation

Glia, EarlyView.
ABSTRACT Multiple sclerosis (MS) is the most common non‐infectious inflammatory CNS disease, characterized by progressive neurodegeneration and focal demyelinated lesions. Traditionally considered an autoimmune disease, MS is driven by the immune system's attack on CNS myelin, resulting in cumulative disability.
Volker Siffrin
wiley   +1 more source