Results 51 to 60 of about 229,423 (345)

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Integrating Dense Genotyping with High‐Throughput Phenotyping Empowers the Genetic Dissection of Berry Quality and Resilience Traits in Grapevine

Advanced Science, EarlyView.
Researchers develop advanced tools to study grapevine traits like berry quality and stress resilience. A 200K SNP array and high‐throughput phenotyping enable the identification of loci linked to berry shape, sugar content, acidity, and cold tolerance. Functional validation of genes such as NAC08 reveals roles in cold tolerance.
Yuyu Zhang, Yongjian Wang, Michael Henke, Pablo Carbonell‐Bejerano, Zemin Wang, Pierre‐François Bert, Yi Wang, Huayang Li, Junhua Kong, Peige Fan, Zhanwu Dai, Zhenchang Liang   +11 more
wiley   +1 more source

Distribution patterns of HLA-A^*, B^*, DRB1^* allele groups among persons who underwent COVID-19

Медицинская иммунология, 2021
The main histocompatibility complex — HLA system (Human Leukocyte Antigens) is among the most important genetic factors determining response of humans to infectious agents.
L. N. Bubnova, I. E. Pavlova, A. S. Berkos, M. A. Terentyeva, T. V. Glazanova, L. V. Erokhina, E. V. Belyaeva, A. V. Chechetkin, N. S. Bashketova, I. G. Chkhindzheria, M. А. Kozhemyakina, D. V. Azarov, R. N. Kuznetsova, Areg A. Totolyan   +13 more
doaj   +1 more source

A Bayesian Hierarchical Model for Detecting Haplotype-Haplotype and Haplotype-Environment Interactions in Genetic Association Studies [PDF]

Human Heredity, 2011
<i>Objective: </i>Genetic association studies based on haplotypes are powerful in the discovery and characterization of the genetic basis of complex human diseases. However, statistical methods for detecting haplotype-haplotype and haplotype-environment interactions have not yet been fully developed owing to the difficulties encountered ...
Nengjun Yi, Jun Li, Kui Zhang
openaire   +3 more sources

Natural Allelic Variations in IbCHYR1–IbZnFR Complex Regulate Fusarium Root Rot Resistance in Sweet Potato

Advanced Science, EarlyView.
FfRlpA2, a conserved Fusarium effector, functions as a protease inhibitor by hijacking the E3 ubiquitin ligase IbCHYR1 to degrade the resistance factor IbZnFR, thereby promoting Fusarium pathogenicity. Conversely, the high dosage Pro::IbZnFRHap2 allele was associated with resistance to root rot disease.
Huan Zhang, Zhuoru Dai, Xiaochen Zhang, Meiqi Shang, Xiaoru Gao, Ruiqi Ma, Limeng Zhao, Xiaoli Zhang, Qingchang Liu, Hong Zhai, Shaopei Gao, Ning Zhao, Qinghe Cao, Qiang Li, Shaozhen He   +14 more
wiley   +1 more source

Association of HLA Genotype and Fulminant Type 1 Diabetes in Koreans [PDF]

Genomics & Informatics, 2015
Fulminant type 1 diabetes (T1DM) is a distinct subtype of T1DM that is characterized by rapid onset hyperglycemia, ketoacidosis, absolute insulin deficiency, and near normal levels of glycated hemoglobin at initial presentation.
Soo Heon Kwak, Yoon Ji Kim, Jeesoo Chae, Cue Hyunkyu Lee, Buhm Han, Jong-Il Kim, Hye Seung Jung, Young Min Cho, Kyong Soo Park   +8 more
doaj   +1 more source

Disequilibrium linkage (gametic disequilibrium) of structural genes in the bovine population

Аграрная наука Евро-Северо-Востока, 2021
In the population of Kholmogor cattle (n=824), gametic disequilibrium was studied for alleles of the polymorphic loci β-Lg (LGB), β-Cn (CSN2) and æ-Cn (CSN3). In purebred Kholmogor cattle, the β-casein polymorphism is determined by three alleles with the
V. S. Matyukov, V. G. Zainullin
doaj   +1 more source

ABCB1 haplotypes do not influence transport or efficacy of tyrosine kinase inhibitors in vitro

Pharmacogenomics and Personalized Medicine, 2013
Single-nucleotide polymorphisms (SNPs) in the gene coding for the efflux-transport protein ABCB1 (P-glycoprotein) are commonly inherited as haplotypes.
K. Skoglund, S. Moreno, Maria Baytar, Jan-Ingvar Jönsson, Henrik Gréen   +4 more
semanticscholar   +1 more source

Post‐Translational Modified Neoantigens in Autoimmune Diseases: Challenges of Immune Tolerance

Advanced Science, EarlyView.
Autoimmune diseases have a high incidence and disability rate. The pathogenesis of autoimmune diseases involves the interaction among genetic factors, environmental factors, and immune disorders. The post‐translational modified neoantigens are the key nodal of these three factors. And these post‐translational modified neoantigens, after being presented
Yue Zhai, Kefei Wu, Qi Lin, Zhenzhen Cao, Yankun Jia, Ping Zhu   +5 more
wiley   +1 more source

Advances in methodologies for detecting MHC-B variability in chickens

Poultry Science, 2020
The chicken major histocompatibility B complex (MHC-B) region is of great interest owing to its very strong association with resistance to many diseases. Variation in the MHC-B was initially identified by hemagglutination of red blood cells with specific
J.E. Fulton
doaj