Results 121 to 130 of about 305,165 (262)

Female‐Specific Risk of TAS2R Variants in Chronic Rhinosinusitis: A Hospital‐Based Cohort Study From the Taiwan Precision Medicine Initiative

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Bitter taste receptors (T2Rs) function in the innate immune defense of the sinonasal mucosa; however, the genetic association between the TAS2R gene family and chronic rhinosinusitis (CRS) remains understudied in Asian populations.
Rong‐San Jiang   +6 more
wiley   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

open access: yesAnimal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang   +14 more
wiley   +1 more source

Genetic prediction of blood cell reactivity and its potential causal influence on bone continuity and density disorders

open access: yesAnimal Models and Experimental Medicine, EarlyView.
We applied Mendelian randomization to explore causal links between blood cell traits and skeletal disorders. Using genetic instruments from large‐scale summary statistics, we assessed effects on bone continuity, density, and structural integrity. Sensitivity and reverse analyses confirmed robust associations, highlighting potential shared biological ...
Zhiqin Deng   +8 more
wiley   +1 more source

Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy

open access: yesBiological Research, 2009
We present the analysis of an intronic polymorphism of the nephrin gene and its relationship to the development of diabetic nephropathy in a study of diabetes type 1 and type 2 patients.
RODRIGO GONZÁLEZ   +8 more
doaj  

Single nucleotide polymorphism statistics (freq – frequency, Syn – synonymous).

open access: yes, 2013
Single nucleotide polymorphism statistics (freq – frequency, Syn – synonymous).
Anthony F. Barbet (324450)   +2 more
core   +1 more source

Biochemical and Immunohistochemical Associations of TDP‐43 and Cryptic RNA With Hippocampal and Amygdala Volumetrics in Alzheimer's Disease

open access: yesAnnals of Neurology, EarlyView.
Objective Immunohistochemically (IHC) measured transactive response DNA‐binding protein 43 (TDP‐43) inclusions are observed in Alzheimer's disease (AD) and are associated with medial temporal lobe atrophy. Accumulation of cryptic exons occurs in AD in response to TDP‐43 pathology.
Hossam Youssef   +18 more
wiley   +1 more source

Natural variation in Drosophila melanogaster [PDF]

open access: yes, 2007
This work is dedicated to studying natural variation in D. melanogaster at the DNA sequence and gene expression level. In addition I present a new version of the DNA polymorphism analysis program VariScan, which includes significant improvements.
Hutter, Stephan
core  

Participants with oxytocin receptor single nucleotide polymorphism (n = 13).

open access: yes, 2018
Participants with oxytocin receptor single nucleotide polymorphism (n = 13).
Kaori Takahata (4671157)   +5 more
core   +1 more source

Relationship between NAFLD and coronary artery disease: A Mendelian randomization study

open access: yesHepatology, EarlyView., 2022
Abstract Background and Aims There is an ongoing debate on whether NAFLD is an active contributor or an innocent bystander in the pathogenesis of coronary artery disease (CAD). The aim of the present study was to assess the causal relationship between NAFLD and CAD.
Zhewen Ren   +4 more
wiley   +1 more source

A pipeline for high throughput detection and mapping of SNPs from EST databases

open access: yes, 2010
Single nucleotide polymorphisms (SNPs) represent the most abundant type of genetic variation that can be used as molecular markers. The SNPs that are hidden in sequence databases can be unlocked using bioinformatic tools.
C. Gerard van der Linden   +15 more
core   +1 more source

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