Results 111 to 120 of about 524,252 (269)

cuteHap: Haplotype‐Aware Structural Variant Detection in Phased Long‐Read Sequencing Data

open access: yesAdvanced Science, EarlyView.
cuteHap is a haplotype‐aware structural variant detection method designed for phased long‐read sequencing. By employing self‐adaptive clustering and credibility‐prioritized beam search algorithms, cuteHap generates accurate haplotype‐resolved calls and outperforms state‐of‐the‐art tools.
Shuqi Cao   +7 more
wiley   +1 more source

Diabetes Mellitus Facilitates Gallstone Formation Through CXCR2‐NETs–Mediated Liver‐Bile Barrier Damage

open access: yesAdvanced Science, EarlyView.
Diabetes is an independent risk factor for gallstones. It upregulates CXCR2 expression in hepatic neutrophils, stimulating the formation of NETs that disrupt hepatocellular tight junctions and the liver‐bile barrier. NETs enter bile to accelerate gallstone development, while sarcosine inhibits CXCR2 and NETs production, effectively reducing diabetes ...
Chao Shi   +10 more
wiley   +1 more source

The CYP7A1 gene rs3808607 variant is associated with susceptibility of tuberculosis in Moroccan population

open access: yesThe Pan African Medical Journal, 2014
INTRODUCTION: Despite the medical progress in treatment. Tuberculosis (TB) continues to be a serious global health problem. A genome-wide linkage study identified a major susceptibility locus on chromosomal region 8q12-q13 in Moroccan TB patients.
Mounia Qrafli   +10 more
doaj   +1 more source

Pan‐3D Genome Analysis Reveals the Roles of Structural Variation in Chicken Chromatin Architectures, Domestication and Production Traits

open access: yesAdvanced Science, EarlyView.
This study firstly presents a comprehensive and high‐resolution pan‐3D genome resource in chicken. Our findings reveal the role of structural variations in 3D genome architectures, and how they influence the domestication process and production traits at the 3D genome level.
Zhen Zhou   +19 more
wiley   +1 more source

RENAL‐CHIP: Rejection Evaluation via Non‐Invasive Analysis of Circulating Podocytes With Herringbone‐Chip Isolation Platform

open access: yesAdvanced Science, EarlyView.
RENAL‐CHIP converts 1 mL of peripheral blood into a biopsy‐equivalent readout of renal‐allograft fate. By magnetic capture and release of donor‐derived circulating podocytes through a herringbone microfluidic chip, 84% capture, 96% release and single‐cell RNA evidence of rejection‐specific immunity are achieved.
Juan Song   +11 more
wiley   +1 more source

Genetic Control of Tissue Remodeling by a Non‐Coding SNP in ITGA8 Explains Carotenoid‐Based Color Polymorphism in Marine Mollusks

open access: yesAdvanced Science, EarlyView.
In this study, the orange‐muscle giant abalone (Haliotis gigantea) is used as a model to identify a non‐coding SNP that disrupts the interaction between ITGA8 pre‐mRNA and the splicing factor ILF2, leading to altered ITGA8 splicing. These splicing changes promote carotenoid accumulation in abalone muscle through the regulation of tissue remodeling ...
Xiaohui Wei   +17 more
wiley   +1 more source

A Guide for Spatial Omics Technologies: Innovation, Evaluation, and Application

open access: yesAdvanced Science, EarlyView.
This review presents a strategy‐centric framework for spatial omics technologies, organizing methods by how spatial information is experimentally encoded. It compares key performance trade‐offs across sequencing‐ and imaging‐based approaches, examines computational and practical limitations, and highlights biomedical applications. The analysis provides
Xiaofeng Wu   +5 more
wiley   +1 more source

Evaluación de polimorfismos en los genes de TNF-alfa, TNF-beta e IL-1beta y sus variantes alélicas en una población colombiana de pacientes con sepsis

open access: yesIatreia, 2010
La sepsis se define como un síndrome de respuesta sistémica en presencia,  confirmada o sospechada de infección. Se manifiesta  con uno o varios marcadores de enfermedad general, inflamación, anormalidad hemodinámica, disfunción orgánica o falla de ...
Carolina Montoya Ruiz   +3 more
doaj  

Mutation screening of γ-crystallin gene in congenital cataract patients from North India

open access: yesIndian Journal of Ophthalmology
Purpose: The present study screened eight families (comprising 25 affected and unaffected individuals, along with ten unrelated controls) to identify known and potentially novel mutations in the human γ-crystallin (CRYG) genes using Sanger bidirectional ...
Aal E Fatima   +2 more
doaj   +1 more source

ZSL Orchestrates Synaptonemal Complex Assembly as a Central Region Scaffold to Ensure Synapsis Fidelity and Crossover Control in Polyploid Meiosis

open access: yesAdvanced Science, EarlyView.
A central molecular adaptor, ZSL, is identified that links transverse filaments ZYP1 to central element SCEP1/2 to drive synaptonemal complex assembly in Brassica napus. Loss of ZSL abolishes synaptonemal complex formation, disrupts meiotic chromosome segregation, and markedly increases crossovers, providing mechanistic insight into meiotic fidelity ...
Miaowei Geng   +16 more
wiley   +1 more source

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