Results 111 to 120 of about 459,264 (290)

Single nucleotide polymorphism analysis in interstitial cystitis/painful bladder syndrome.

open access: yesPLoS ONE, 2019
IntroductionInterstitial Cystitis (IC) is a chronic condition diagnosed based on the presence of symptoms, such as suprapubic/ pelvic pain, pressure or discomfort in association with urgency and increased urinary frequency.
Valter D Cassão   +6 more
doaj   +1 more source

Association of apolipoprotein E-219T>G promoter polymorphism with primary open angle glaucoma in Turkish population

open access: yesInternational Journal of Ophthalmology, 2014
AIM: To investigate the association between apolipoprotein E (APOE) -219 T>G promoter polymorphism and primary open angle glaucoma (POAG).METHODS: Patients and healthy subjects were genotyped with polymerase chain reaction-restriction fragment length ...
Emel Saglar, Banu Bozkurt, Murat Irkec
doaj   +1 more source

Deciphering the Evolution Pattern of Structural Variations Overlapped With Repetitive Sequence During Cattle Evolution

open access: yesAdvanced Science, EarlyView.
The authors complement bovine pan‐SV with massive novel structural variations (SVs) identified through long‐read sequencing of 83 globally distributed cattle breeds. Repetitive sequence‐mediated SVs (rep‐SV) exhibit distinct dynamic patterns throughout cattle sub‐speciation and/or domestication processes, including uneven distribution between chr‐X and
Zhifan Guo   +16 more
wiley   +1 more source

Cross‐Modal Denoising and Integration of Spatial Multi‐Omics Data with CANDIES

open access: yesAdvanced Science, EarlyView.
In this paper, we introduce CANDIES, which leverages a conditional diffusion model and contrastive learning to effectively denoise and integrate spatial multi‐omics data. We conduct extensive evaluations on diverse synthetic and real datasets, CANDIES shows superior performance on various downstream tasks, including denoising, spatial domain ...
Ye Liu   +5 more
wiley   +1 more source

Candidate Single Nucleotide Polymorphism Markers for Arsenic Responsiveness of Protein Targets

open access: yesBioinformatics and Biology Insights, 2010
Arsenic is a toxic metalloid that causes skin cancer and binds to cysteine residues—a property that could be used to infer arsenic responsiveness of a target protein.
Barbara E. Graham-Evans   +6 more
doaj  

SDS‐CRISPR for Single‐Nucleotide Variant Detection

open access: yesAdvanced Science, EarlyView.
Structure‐disruption‐sensitive CRISPR (SDS‐CRISPR) converts structural instability into single‐nucleotide precision, thereby overcoming mismatch tolerance in canonical Cas12a and enabling versatile diagnostics across DNA, RNA, and microRNA targets. When applied to rapid IDH1 mutation detection for glioma genotyping and integrated with lateral‐flow ...
Xin Guan   +12 more
wiley   +1 more source

DNA Nanoarray for Multiplexed RNA Detection With Single‐Molecule Readout

open access: yesAdvanced Science, EarlyView.
A carrier‐based DNA nanoarray integrates programmable nucleic acid hybridization with solid‐state nanopore readout for direct RNA detection at single‐molecule resolution. A ternary encoding system enables 27 carriers with 81 addressable sensing sites, allowing the simultaneous identification of targets spanning a wide size range, from short microRNAs ...
Yunxuan Li   +12 more
wiley   +1 more source

Machine Learning‐Augmented Loop‐Mediated Isothermal Amplification‐Enabled Point‐of‐Care for Mpox‐Specific Detection

open access: yesAdvanced Intelligent Systems, EarlyView.
A low‐cost, portable point‐of‐care platform for rapid Mpox detection using loop‐mediated isothermal amplification is reported. The device integrates fluorescence readout and mobile monitoring. A machine‐learning model analyzes temperature data and correlates thermal changes with DNA concentration, enabling sensitive and reliable molecular diagnosis in ...
Nazente Atceken   +4 more
wiley   +1 more source

The association of C3435T single-nucleotide polymorphism, Pgp-glycoprotein gene expression levels and carbamazepine maintenance dose in patients with epilepsy

open access: yesNeuropsychiatric Disease and Treatment, 2012
Zoran Sterjev1, Gordana Kiteva Trencevska2, Emilija Cvetkovska2, Igor Petrov2, Igor Kuzmanovski2, Jasmina T Ribarska3, Aleksandra K Nestorovska1, Nadica Matevska1, Zorica Naumovska1, Suzana Jolevska-Trajkovic3, Aleksandar Dimovski1, Ljubica ...
Sterjev Z   +11 more
doaj  

The Longitudinal Effect of APOL1 Risk Alleles on Sickle Cell Anemia‐Associated Kidney Function

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Progressive kidney injury is a major cause of morbidity and mortality in sickle cell anemia (SCA). The high risk APOL1 G1/G2 variants contribute to the development of kidney disease in individuals of African ancestry, including those with SCA.
Sara R. Rashkin   +7 more
wiley   +1 more source

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