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19 Results Found

  • Article
  • Open Access
1 Citations
3,897 Views
15 Pages

Association of Genetic Markers with the Risk of Early-Onset Breast Cancer in Kazakh Women

  • Liliya Skvortsova,
  • Saltanat Abdikerim,
  • Kanagat Yergali,
  • Natalya Mit and ,
  • Anastassiya Perfilyeva,
  • Nazgul Omarbayeva,
  • Aigul Zhunussova,
  • Zulfiya Kachiyeva,
  • Tolkyn Sadykova and
  • Gulnur Zhunussova
  • + 8 authors+ 3 authors

17 January 2024

Breast cancer is a global health problem. It is an age-dependent disease, but cases of early-onset breast cancer (eBC) are gradually increasing. There are many unresolved questions regarding eBC risk factors, mechanisms of development and screening....

(This article belongs to the Special Issue Genotyping and Prognostic Markers in Cancers)
  • Article
  • Open Access
14 Citations
3,836 Views
9 Pages

9 March 2022

Microarray-based genomic selection is a central tool to increase the genetic gain of economically significant traits in dairy cattle. Yet, the effectivity of this tool is slightly limited, as estimates based on genotype data only partially explain th...

(This article belongs to the Special Issue Genetics and Breeding of Cattle)
  • Review
  • Open Access
13 Citations
9,811 Views
21 Pages

25 October 2023

Single Nucleotide Polymorphisms (SNPs) are variations that occur at single nucleotides in the genome and are present at an appreciable level in a population. SNPs can be linked to phenotypes of interest, for example diseases, recent adaptations, or s...

  • Article
  • Open Access
2 Citations
4,582 Views
14 Pages

A Parallel Software Pipeline for DMET Microarray Genotyping Data Analysis

  • Giuseppe Agapito,
  • Pietro Hiram Guzzi and
  • Mario Cannataro

Personalized medicine is an aspect of the P4 medicine (predictive, preventive, personalized and participatory) based precisely on the customization of all medical characters of each subject. In personalized medicine, the development of medical treatm...

(This article belongs to the Special Issue Applications of Microarrays in Diagnostics)
  • Article
  • Open Access
22 Citations
18,350 Views
14 Pages

Association Study between BDNF Gene Polymorphisms and Autism by Three-Dimensional Gel-Based Microarray

  • Lu Cheng,
  • Qinyu Ge,
  • Pengfeng Xiao,
  • Beili Sun and ,
  • Xiaoyan Ke,
  • Yunfei Bai and
  • Zuhong Lu
  • + 2 authors+ 0 author

2 June 2009

Single nucleotide polymorphisms (SNPs) are important markers which can be used in association studies searching for susceptible genes of complex diseases. High-throughput methods are needed for SNP genotyping in a large number of samples. In this stu...

(This article belongs to the Section Biochemistry)
  • Review
  • Open Access
18 Citations
25,455 Views
26 Pages

Efficient SNP Discovery by Combining Microarray and Lab-on-a-Chip Data for Animal Breeding and Selection

  • Chao-Wei Huang,
  • Yu-Tsung Lin,
  • Shih-Torng Ding,
  • Ling-Ling Lo and ,
  • Pei-Hwa Wang,
  • En-Chung Lin,
  • Fang-Wei Liu and
  • Yen-Wen Lu
  • + 3 authors+ 0 author

16 November 2015

The genetic markers associated with economic traits have been widely explored for animal breeding. Among these markers, single-nucleotide polymorphism (SNPs) are gradually becoming a prevalent and effective evaluation tool. Since SNPs only focus on t...

(This article belongs to the Special Issue SNP Array)
  • Article
  • Open Access
13 Citations
3,676 Views
12 Pages

Microarray Genotyping Identifies New Loci Associated with Dementia in Parkinson’s Disease

  • Sungyang Jo,
  • Kye Won Park,
  • Yun Su Hwang,
  • Seung Hyun Lee and ,
  • Ho-Sung Ryu and
  • Sun Ju Chung
  • + 1 author+ 0 author

10 December 2021

Dementia is one of the most disabling nonmotor symptoms of Parkinson’s disease (PD). However, the risk factors contributing to its development remain unclear. To investigate genetic variants associated with dementia in PD, we performed microarr...

(This article belongs to the Special Issue Parkinson's Disease: Genetics and Pathogenesis)
  • Communication
  • Open Access
26 Citations
5,009 Views
10 Pages

22 May 2023

As an important genotyping platform, SNP chips are essential for implementing genomic selection. In this article, we introduced the development of a liquid SNP chip panel for dairy goats. This panel contains 54,188 SNPs based on genotyping by targete...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
2 Citations
5,015 Views
10 Pages

Genome-Wide SNP Signal Intensity Scanning Revealed Genes Differentiating Cows with Ovarian Pathologies from Healthy Cows

  • Ricardo Salomón-Torres,
  • Martin F. Montaño-Gómez,
  • Rafael Villa-Angulo,
  • Víctor M. González-Vizcarra and ,
  • Carlos Villa-Angulo,
  • Gerardo E. Medina-Basulto,
  • Noé Ortiz-Uribe,
  • Padmanabhan Mahadevan and
  • Víctor H. Yaurima-Basaldúa
  • + 4 authors+ 0 author

21 August 2017

Hypoplasia and ovarian cysts are the most common ovarian pathologies in cattle. In this genome-wide study we analyzed the signal intensity of 648,315 Single Nucleotide Polymorphisms (SNPs) and identified 1338 genes differentiating cows with ovarian p...

(This article belongs to the Section Biosensors)
  • Article
  • Open Access
7 Citations
4,967 Views
18 Pages

Genome-Wide Association Study of Fiber Diameter in Alpacas

  • Manuel More,
  • Eudosio Veli,
  • Alan Cruz,
  • Juan Pablo Gutiérrez and ,
  • Gustavo Gutiérrez and
  • F. Abel Ponce de León
  • + 1 author+ 0 author

25 October 2023

The aim of this study was the identification of candidate genomic regions associated with fiber diameter in alpacas. DNA samples were collected from 1011 female Huacaya alpacas from two geographical Andean regions in Peru (Pasco and Puno), and three...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
2 Citations
3,245 Views
18 Pages

Whole-Exome Sequencing Identifies Novel GATA5/6 Variants in Right-Sided Congenital Heart Defects

  • Gloria K. E. Zodanu,
  • John H. Hwang,
  • Jordan Mudery,
  • Carlos Sisniega and ,
  • Xuedong Kang,
  • Lee-Kai Wang,
  • Alexander Barsegian,
  • Reshma M. Biniwale,
  • Ming-Sing Si and
  • Marlin Touma
  • + 11 authors+ 6 authors

27 February 2025

One out of every hundred live births present with congenital heart abnormalities caused by the aberrant development of the embryonic cardiovascular system. The conserved zinc finger transcription factor proteins, which include GATA binding protein 5...

(This article belongs to the Special Issue Genetic Variations in Human Diseases: 2nd Edition)
  • Article
  • Open Access
7 Citations
4,781 Views
10 Pages

Sports-Related Genomic Predictors Are Associated with Athlete Status in Chinese Sprint/Power Athletes

  • Yaqi Wang,
  • Zihong He,
  • Tao Mei,
  • Xiaolin Yang and ,
  • Zhuangzhuang Gu,
  • Zhihao Zhang and
  • Yanchun Li
  • + 2 authors+ 0 author

26 September 2024

Objectives: The aim of this study was to assess the relationship between variant loci significantly associated with sports-related traits in the GWAS Catalog database and sprint/power athlete status, as well as to explore the polygenic profile of eli...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
9 Citations
3,341 Views
19 Pages

Assessment of the Potential Role of Selected Single Nucleotide Polymorphisms (SNPs) of Genes Related to the Functioning of Regulatory T Cells in the Pathogenesis of Psoriasis

  • Dorota Purzycka-Bohdan,
  • Bogusław Nedoszytko,
  • Marta Sobalska-Kwapis,
  • Monika Zabłotna and ,
  • Michał A. Żmijewski,
  • Justyna Wierzbicka,
  • Jolanta Gleń,
  • Dominik Strapagiel,
  • Aneta Szczerkowska-Dobosz and
  • Roman J. Nowicki
  • + 5 authors+ 0 author

Recent studies have indicated a key role of the impaired suppressive capacity of regulatory T cells (Tregs) in psoriasis (PsO) pathogenesis. However, the genetic background of Treg dysfunctions remains unknown. The aim of this study was to evaluate t...

(This article belongs to the Special Issue Pathogenesis of Chronic Inflammatory Skin Diseases in the "Omics" Era)
  • Article
  • Open Access
9 Citations
2,292 Views
16 Pages

Association of Genes TRH, PRL and PRLR with Milk Performance, Reproductive Traits and Heat Stress Response in Dairy Cattle

  • Qianhai Fang,
  • Hailiang Zhang,
  • Qing Gao,
  • Lirong Hu and ,
  • Fan Zhang,
  • Qing Xu and
  • Yachun Wang
  • + 2 authors+ 0 author

24 February 2025

In our previous study, we found that changes in plasma prolactin (PRL) concentration were significantly associated with heat stress in dairy cows, and that PRL plays an important role in milk performance. Microarray sequencing revealed that thyrotrop...

(This article belongs to the Special Issue Molecular Genetics and Genomics of Ruminants)
  • Article
  • Open Access
10 Citations
4,818 Views
19 Pages

Evaluation and Analysis of Absence of Homozygosity (AOH) Using Chromosome Analysis by Medium Coverage Whole Genome Sequencing (CMA-seq) in Prenatal Diagnosis

  • Yan Lü,
  • Yulin Jiang,
  • Xiya Zhou,
  • Na Hao and ,
  • Guizhen Lü,
  • Xiangxue Guo,
  • Ruidong Guo,
  • Wenjie Liu,
  • Chenlu Xu and
  • Qingwei Qi
  • + 10 authors+ 5 authors

Objective: Absence of homozygosity (AOH) is a genetic characteristic known to cause human diseases mainly through autosomal recessive or imprinting mechanisms. The importance and necessity of accurate AOH detection has become more clinically signific...

(This article belongs to the Special Issue Prenatal Diagnosis: Current Trends and Future Directions)
  • Feature Paper
  • Article
  • Open Access
1 Citations
2,946 Views
18 Pages

DurdusTools—An Online Genetic Distance Calculation Tool for Efficient Variety Testing in Durum Wheat (Triticum turgidum L. subsp. durum (Desf.) Husn.)

  • Alexandra Ribarits,
  • Svenja Bomers,
  • Tadej Zerak,
  • Oliver Alber and ,
  • Jakob Seereiter,
  • Antonio Escolano García,
  • Ana Lázaro Somoza,
  • Anna Pia Maria Giulini,
  • Ferenc Somogyi and
  • Jutta Taferner-Kriegl
  • + 6 authors+ 1 author

10 November 2024

The management of variety collections can be supported by integrating molecular data into Distinctness, Uniformity, and Stability (DUS) testing. DurdusTools is a genetic distance (GD) calculation tool that supports planning field trials in durum whea...

  • Article
  • Open Access
3 Citations
2,085 Views
14 Pages

Genetic Comparison and Selection of Reproductive and Growth-Related Traits in Qinchuan Cattle and Two Belgian Cattle Breeds

  • Xiaopeng Li,
  • Peng Niu,
  • Xueyan Wang,
  • Fei Huang and ,
  • Jieru Wang,
  • Huimin Qu,
  • Chunmei Han and
  • Qinghua Gao
  • + 3 authors+ 0 author

19 February 2025

This study investigates the genetic structure of Belgian Red (BR), Belgian Red and White (BWR), and Qinchuan (QinC) cattle, with a focus on identifying genes associated with reproductive functions, growth, and development. A total of 270 Belgian catt...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
10 Citations
3,478 Views
10 Pages

Antioxidant Enzymes Haplotypes and Polymorphisms Associated with Obesity in Mexican Children

  • Paula Costa-Urrutia,
  • Aline Mariana Flores-Buendía,
  • Iván Ascencio-Montiel,
  • Jacqueline Solares-Tlapechco and ,
  • Omar Noel Medina-Campos,
  • José Pedraza-Chaverri,
  • Julio Granados,
  • Angélica Saraí Jiménez-Osorio and
  • Martha Eunice Rodríguez-Arellano
  • + 4 authors+ 0 author

Obesity is a major health problem worldwide and constitutes a sanitary emergency in Mexico, especially childhood obesity. Several studies have proved the relationship between obesity and oxidative stress and the influence of genetic predisposition. T...

  • Article
  • Open Access
1 Views
10 Pages

Targeted Capture and Massively Parallel Sequencing in Pediatric Cardiomyopathy: Development of Novel Diagnostics

  • Muhammad Tariq,
  • Thanh-Tam Le,
  • Patrick Putnam,
  • Steven Kindel and ,
  • Mehdi Keddache and
  • Stephanie M. Ware
  • + 1 author+ 0 author

Pediatric cardiomyopathy is a genetically heterogeneous disease associated with significant morbidity. Although identification of underlying etiology is important for management, therapy, and screening of at risk family members, molecular diagnosis i...