S Gene (Corneodesmosin) Diversity and its Relationship to Psoriasis; High Content of cSNP in the HLA-Linked S Gene [PDF]
, 2000 Psoriasis is a heterogeneous disease in which several reports suggest the presence of a susceptibility gene in or in the proximity of the human leukocyte antigen complex in chromosome 6p.
Enerbäck, Charlotta +6 more
core +1 more source
Circulation Research, 2014 Rationale: Congenital heart disease (CHD) is among the most common birth defects. Most cases are of unknown pathogenesis. Objective: To determine the contribution of de novo copy number variants (CNVs) in the pathogenesis of sporadic CHD.
J. Glessner +29 more
semanticscholar +1 more source
Single nucleotide polymorphisms and periodontitis
Dentistry and Medical Research, 2014 The susceptibility to various diseases is studied with association to genetic polymorphisms. Among these polymorphisms, single-nucleotide polymorphisms (SNPs) are very common throughout the genome. The recent advances in genetic assay techniques and increase in SNP databases are paving a way for investigation of susceptibility genes for periodontitis ...
Khaled Awidat +5 more
openaire +3 more sources
Novel single nucleotide polymorphism-based assay for genotyping Mycobacterium avium subsp. paratuberculosis [PDF]
, 2016 Typing of Mycobacterium avium subspecies paratuberculosis strains presents a challenge, since they are genetically monomorphic and traditional molecular techniques have limited discriminatory power.
Bryant, Josephine +6 more
core +2 more sources
Genetic variants associated with the root system architecture of oilseed rape (Brassica napus L.) under contrasting phosphate supply [PDF]
, 2017 Breeding crops with ideal root system architecture for efficient absorption of phosphorus is an important strategy to reduce the use of phosphate fertilizers.
Broadley, Martin R. +12 more
core +1 more source
Single Nucleotide Polymorphism Promoter -765g/C Gen Cox-2 sebagai Faktor Risiko Terjadinya Karsinoma Kolorektal [PDF]
, 2017 Karsinoma kolorektal (KKR) merupakan keganasan yang berasal dari transformasi neoplastik sel-sel epitel kolon dan rektum, menempati urutan ketiga terbanyak dari seluruh kanker di seluruh dunia.Berbagai Perubahan DNA dapat terjadi akibat paparan dengan ...
Saleh, I. (Irsan), Triwani, T. (Triwani)
core
Cryptic Variation in the Human Mutation Rate [PDF]
, 2009 The mutation rate is known to vary between adjacent sites within the human genome as a consequence of context, the most well-studied example being the influence of CpG dinucelotides.
Eyre-Walker, Adam +2 more
core +3 more sources
From omics to AI—mapping the pathogenic pathways in type 2 diabetes
FEBS Letters, EarlyView.Integrating multi‐omics data with AI‐based modelling (unsupervised and supervised machine learning) identify optimal patient clusters, informing AI‐driven accurate risk stratification. Digital twins simulate individual trajectories in real time, guiding precision medicine by matching patients to targeted therapies.
Siobhán O'Sullivan +2 more
wiley +1 more source
Thoracic Cancer, 2020 Background The aim of this study was to investigate the correlation between MDM2 T309G single nucleotide polymorphism (SNP) and esophageal cancer susceptibility through pooling the open published data.
Lele Yin, Guo Shen, Bin Zhu
doaj +1 more source
Leaf transcriptome analysis of a subtropical evergreen broadleaf plant, wild oil-tea camellia (Camellia oleifera), revealing candidate genes for cold acclimation [PDF]
, 2017 Single nucleotide polymorphism (SNP) positions in genes of Camellia oleifera. Genotypes of samples from Jinggang (JG01-04) and Lu (LS01-04) mountains are shown.
Chuan Long +6 more
core +8 more sources