Results 121 to 130 of about 384,456 (306)

Metodología para la construcción de redes de SNPs relacionados con enfermedades complejas [PDF]

open access: yes, 2011
El estudio de asociación entre enfermedades complejas y genotipos con base en marcadores genéticos o SNPs (Polimorfismos de Nucleótidos Simples) por sus siglas en ingles, ha tomado importancia en los ´ultimos años.
Castillo Abril, Iván Dario
core  

Eco‐Geography Reverses Dominant AMR Reservoirs in Klebsiella pneumoniae: Integron‐Rich Mobilomes and Cross‐Niche Connectivity

open access: yesAdvanced Science, EarlyView.
Dominant antimicrobial resistance reservoirs in Klebsiella pneumoniae vary across eco‐geographic settings rather than following a universal pattern. Integrated One Health and global genomic analyses show that lineage structure, integron load, and cross‐niche connectivity shape whether AMR burden accumulates primarily in human or nonhuman compartments ...
Hui Lin   +12 more
wiley   +1 more source

Consequences of pQTL SNPs. [PDF]

open access: yes, 2016
We examined the most significant SNP for each biomarker (top pQTL) and all 590 significant pQTL SNPs (all pQTLs), compared to all 664,913 SNPs (all SNPs) used for testing with the Ensemble Variant Effect Predictor (release 78).
Katerina Kechris (436022)   +44 more
core   +1 more source

Transposase‐Assisted Donor Tethering Boosts Large‐Fragment HDR in Plants

open access: yesAdvanced Science, EarlyView.
A transposase‐assisted donor tethering strategy is developed to enhance homology‐directed repair in plants. By recruiting donor DNA to double‐strand breaks and synergizing with repair pathway reprogramming and transcription‐coupled donor design, this system markedly improves large‐fragment targeted insertion efficiency, providing a robust platform for ...
Sha Wei   +8 more
wiley   +1 more source

Detecting high-order interactions of single nucleotide polymorphisms using genetic programming [PDF]

open access: yes
Motivation: Not individual single nucleotide polymorphisms (SNPs), but high-order interactions of SNPs are assumed to be responsible for complex diseases such as cancer. Therefore, one of the major goals of genetic association studies concerned with such
Schwender, Holger   +4 more
core  

The RNA‐Binding Protein PARN Remodeled 3′ UTR Structure Defines Poly(A)‐Loading Sites to Mediate Immunoglobulin Homeostasis

open access: yesAdvanced Science, EarlyView.
ABSTRACT Class Switch Recombination (CSR) is essential for generating high‐affinity antibody isotypes from IgM during adaptive humoral responses. Despite well‐established roles for various transcription factors, whether CSR is subject to dedicated post‐transcriptional control represents a significant gap in knowledge.
Siyuan Sun   +19 more
wiley   +1 more source

NLSS3 Impairs SHM1 Autophagic Degradation to Regulate Leaf Morphology and Salt Tolerance in Rice

open access: yesAdvanced Science, EarlyView.
In rice, NLSS3 binds and shields SHM1 from autophagic degradation to maintain serine homeostasis. The A132P mutation in nlss3 disrupts this, triggering SHM1 loss, metabolic dysfunction, K+ imbalance, and impaired ROS scavenging, which collectively drive narrow leaves and salt sensitivity.
Xiong Liu   +15 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

PlantGFM: A Genomic Foundation Model for Discovery and Creation of Plant Genes

open access: yesAdvanced Science, EarlyView.
A plant genomic foundation model pre‐trained on 12 species enables both accurate gene prediction and de novo gene design. Through AI‐human knowledge screening, seven designed sequences showed transcriptional activity in plants, with two expressing stable proteins—demonstrating the first DNA‐RNA‐protein expression of LLM‐generated genes in plants and ...
Changhao Li   +10 more
wiley   +1 more source

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