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3,322 Results Found

  • Brief Report
  • Open Access
3 Citations
2,214 Views
10 Pages

An Italian Twin Study of Non-Cancer Chronic Pain as a Wide Phenotype and Its Intensity

  • Corrado Fagnani,
  • Virgilia Toccaceli,
  • Michael Tenti,
  • Emanuela Medda,
  • Maurizio Ferri,
  • Maria Antonietta Stazi and
  • William Raffaeli

26 October 2022

Background and Objectives: Non-cancer chronic pain (CP) results from the interaction between genetic and environmental factors. Twin studies help to estimate genetic and environmental contributions to complex traits such as CP. To date, twin studies...

  • Communication
  • Open Access
8 Citations
2,126 Views
8 Pages

Novel Heredity Basis of the Four-Horn Phenotype in Sheep Using Genome-Wide Sequence Data

  • Haoyuan Zhang,
  • Pu Yang,
  • Chengli Liu,
  • Yuehui Ma,
  • Yanguo Han,
  • Yan Zeng,
  • Yongfu Huang,
  • Yongju Zhao,
  • Zhongquan Zhao and
  • Guangxin E
  • + 1 author

10 October 2023

Horns are an important breeding trait for sheep. However, no widely recognized viewpoint on the regulatory genes and mechanisms of horns is available, and the genetic basis of the four-horn phenotype (FHP) is unclear. This work conducted a genome-wid...

  • Review
  • Open Access
45 Citations
13,627 Views
20 Pages

15 September 2017

Demographic trends and changes to climate require a more efficient use of plant genetic resources in breeding programs. Indeed, the release of high-yielding varieties has resulted in crop genetic erosion and loss of diversity. This has produced an in...

  • Article
  • Open Access
4 Citations
2,914 Views
20 Pages

Haplotype-Based Genome-Wide Association Analysis Using Exome Capture Assay and Digital Phenotyping Identifies Genetic Loci Underlying Salt Tolerance Mechanisms in Wheat

  • Raj K. Pasam,
  • Surya Kant,
  • Emily Thoday-Kennedy,
  • Adam Dimech,
  • Sameer Joshi,
  • Gabriel Keeble-Gagnere,
  • Kerrie Forrest,
  • Josquin Tibbits and
  • Matthew Hayden

19 June 2023

Soil salinity can impose substantial stress on plant growth and cause significant yield losses. Crop varieties tolerant to salinity stress are needed to sustain yields in saline soils. This requires effective genotyping and phenotyping of germplasm p...

  • Article
  • Open Access
4 Citations
2,138 Views
23 Pages

Genome-Wide Association Study and Phenotype Prediction of Reproductive Traits in Large White Pigs

  • Hao Zhang,
  • Shiqian Bao,
  • Xiaona Zhao,
  • Yangfan Bai,
  • Yangcheng Lv,
  • Pengfei Gao,
  • Fuzhong Li and
  • Wuping Zhang

21 November 2024

In a study involving 385 Large White pigs, a genome-wide association study (GWAS) was conducted to investigate reproductive traits, specifically the number of healthy litters (NHs) and the number of weaned litters (NWs). Several SNP loci, including A...

  • Article
  • Open Access
25 Citations
7,998 Views
25 Pages

GWAS Based on RNA-Seq SNPs and High-Throughput Phenotyping Combined with Climatic Data Highlights the Reservoir of Valuable Genetic Diversity in Regional Tomato Landraces

  • Monica Rodriguez,
  • Alessandro Scintu,
  • Chiara M. Posadinu,
  • Yimin Xu,
  • Cuong V. Nguyen,
  • Honghe Sun,
  • Elena Bitocchi,
  • Elisa Bellucci,
  • Roberto Papa and
  • Giovanna Attene
  • + 3 authors

23 November 2020

Tomato (Solanum lycopersicum L.) is a widely used model plant species for dissecting out the genomic bases of complex traits to thus provide an optimal platform for modern “-omics” studies and genome-guided breeding. Genome-wide associati...

  • Review
  • Open Access
1 Citations
2,820 Views
18 Pages

18 July 2024

Genome-wide association studies (GWAS) have accelerated the exploration of genotype–phenotype associations, facilitating the discovery of replicable genetic markers associated with specific traits or complex diseases. This narrative review expl...

  • Article
  • Open Access
17 Citations
3,881 Views
21 Pages

7 February 2023

Background: A growing number of Coronavirus Disease-2019 (COVID-19) survivors are affected by post-acute sequelae of SARS CoV-2 infection (PACS). Using electronic health record data, we aimed to characterize PASC-associated diagnoses and develop risk...

  • Article
  • Open Access
13 Citations
3,187 Views
19 Pages

High-Throughput Phenotyping Accelerates the Dissection of the Phenotypic Variation and Genetic Architecture of Shank Vascular Bundles in Maize (Zea mays L.)

  • Shangjing Guo,
  • Guoliang Zhou,
  • Jinglu Wang,
  • Xianju Lu,
  • Huan Zhao,
  • Minggang Zhang,
  • Xinyu Guo and
  • Ying Zhang

18 May 2022

The vascular bundle of the shank is an important ‘flow’ organ for transforming maize biological yield to grain yield, and its microscopic phenotypic characteristics and genetic analysis are of great significance for promoting the breeding...

  • Article
  • Open Access
2 Citations
2,226 Views
28 Pages

Genetic Dissection of Drought Tolerance in Maize Through GWAS of Agronomic Traits, Stress Tolerance Indices, and Phenotypic Plasticity

  • Ronglan Li,
  • Dongdong Li,
  • Yuhang Guo,
  • Yueli Wang,
  • Yufeng Zhang,
  • Le Li,
  • Xiaosong Yang,
  • Shaojiang Chen,
  • Tobias Würschum and
  • Wenxin Liu

Drought severely limits crop yield every year, making it critical to clarify the genetic basis of drought tolerance for breeding of improved varieties. As drought tolerance is a complex quantitative trait, we analyzed three phenotypic groups: (1) agr...

  • Article
  • Open Access
1 Citations
3,753 Views
22 Pages

A Versatile and Efficient Novel Approach for Mendelian Randomization Analysis with Application to Assess the Causal Effect of Fetal Hemoglobin on Anemia in Sickle Cell Anemia

  • Janaka S. S. Liyanage,
  • Jeremie H. Estepp,
  • Kumar Srivastava,
  • Sara R. Rashkin,
  • Vivien A. Sheehan,
  • Jane S. Hankins,
  • Clifford M. Takemoto,
  • Yun Li,
  • Yuehua Cui and
  • Guolian Kang
  • + 3 authors

12 October 2022

Mendelian randomization (MR) is increasingly employed as a technique to assess the causation of a risk factor on an outcome using observational data. The two-stage least-squares (2SLS) procedure is commonly used to examine the causation using genetic...

  • Review
  • Open Access
14 Citations
10,241 Views
35 Pages

Advancement in Human Face Prediction Using DNA

  • Aamer Alshehhi,
  • Aliya Almarzooqi,
  • Khadija Alhammadi,
  • Naoufel Werghi,
  • Guan K. Tay and
  • Habiba Alsafar

3 January 2023

The rapid improvements in identifying the genetic factors contributing to facial morphology have enabled the early identification of craniofacial syndromes. Similarly, this technology can be vital in forensic cases involving human identification from...

  • Article
  • Open Access
1 Citations
1,129 Views
18 Pages

High-Resolution 3D Reconstruction of Individual Rice Tillers for Genetic Studies

  • Jiexiong Xu,
  • Jiyoung Lee,
  • Gang Jiang and
  • Xiangchao Gan

25 July 2025

The architecture of rice tillers plays a pivotal role in yield potential, yet conventional phenotyping methods have struggled to capture these intricate three-dimensional (3D) structures with high fidelity. In this study, a 3D model reconstruction me...

  • Article
  • Open Access
2 Citations
2,110 Views
14 Pages

24 October 2022

Crossing genetically distant forms is widely used in breeding programs and allows the introduction of beneficial features from the wild into cultivated species. In this study, agronomic traits of two F2 segregating populations derived from crosses in...

  • Article
  • Open Access
1 Citations
2,797 Views
12 Pages

Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype–Phenotype Correlations

  • Julia Grzybowska-Adamowicz,
  • Karolina Gadzalska,
  • Paulina Jakiel,
  • Ewa Juścińska,
  • Monika Gorządek,
  • Sebastian Skoczylas,
  • Tomasz Płoszaj,
  • Przemysława Jarosz-Chobot,
  • Irina Kowalska and
  • Agnieszka Zmysłowska
  • + 2 authors

12 December 2024

Background: WFS1-spectrum disorders are caused by a mutation in the WFS1 gene. The term includes a wide range of rare disorders, from the most severe Wolfram syndrome with autosomal recessive inheritance to milder clinical manifestations with a...

  • Article
  • Open Access
1,269 Views
11 Pages

5 December 2024

Uncovering the genetic characteristics of important traits in wheat cultivars is essential for targeted wheat breeding. Here, a liquid 100K single-nucleotide polymorphism (SNP) chip panel, integrating markers of known function, was selected and used...

  • Article
  • Open Access
6 Citations
3,990 Views
25 Pages

Leaf Count Aided Novel Framework for Rice (Oryza sativa L.) Genotypes Discrimination in Phenomics: Leveraging Computer Vision and Deep Learning Applications

  • Mukesh Kumar Vishal,
  • Rohit Saluja,
  • Devarshi Aggrawal,
  • Biplab Banerjee,
  • Dhandapani Raju,
  • Sudhir Kumar,
  • Viswanathan Chinnusamy,
  • Rabi Narayan Sahoo and
  • Jagarlapudi Adinarayana

10 October 2022

Drought is a detrimental factor to gaining higher yields in rice (Oryza sativa L.), especially amid the rising occurrence of drought across the globe. To combat this situation, it is essential to develop novel drought-resilient varieties. Therefore,...

  • Article
  • Open Access
2 Citations
3,004 Views
23 Pages

Extreme-Phenotype Genome-Wide Association Analysis for Growth Traits in Spotted Sea Bass (Lateolabrax maculatus) Using Whole-Genome Resequencing

  • Zhaolong Zhou,
  • Guangming Shao,
  • Yibo Shen,
  • Fengjiao He,
  • Xiaomei Tu,
  • Jiawen Ji,
  • Jingqun Ao and
  • Xinhua Chen

17 October 2024

Spotted sea bass (Lateolabrax maculatus) is an important marine economic fish in China, ranking third in annual production among marine fish. However, a declined growth rate caused by germplasm degradation has severely increased production costs and...

  • Article
  • Open Access
3 Citations
2,172 Views
17 Pages

Peripheral Blood Gene Expression Profiling Reveals Molecular Pathways Associated with Cervical Artery Dissection

  • Polina S. Shlapakova,
  • Larisa A. Dobrynina,
  • Ludmila A. Kalashnikova,
  • Mariia V. Gubanova,
  • Maria S. Danilova,
  • Elena V. Gnedovskaya,
  • Anastasia P. Grigorenko,
  • Fedor E. Gusev,
  • Andrey D. Manakhov and
  • Evgeny I. Rogaev

Cervical artery dissection (CeAD) is the primary cause of ischemic stroke in young adults. Monogenic heritable connective tissue diseases account for fewer than 5% of cases of CeAD. The remaining sporadic cases have known risk factors. The clinical,...

  • Article
  • Open Access
8 Citations
3,116 Views
13 Pages

Genome-Wide Association Study of Feed Efficiency Related Traits in Ducks

  • Qixin Guo,
  • Lan Huang,
  • Yong Jiang,
  • Zhixiu Wang,
  • Yulin Bi,
  • Guohong Chen,
  • Hao Bai and
  • Guobin Chang

13 June 2022

Feed efficiency (FE) is the most important economic trait in the poultry and livestock industry. Thus, genetic improvement of FE may result in a considerable reduction of the cost and energy burdens. As genome-wide association studies (GWASs) can hel...

  • Review
  • Open Access
62 Citations
10,519 Views
16 Pages

On Zebrafish Disease Models and Matters of the Heart

  • Panagiota Giardoglou and
  • Dimitris Beis

Coronary artery disease (CAD) is the leading form of cardiovascular disease (CVD), which is the primary cause of mortality worldwide. It is a complex disease with genetic and environmental risk factor contributions. Reports in human and mammalian mod...

  • Article
  • Open Access
2 Citations
2,900 Views
15 Pages

Genome-Wide Association Studies of Three-Dimensional (3D) Cassava Root Crowns and Agronomic Traits Using Partially Inbred Populations

  • Pongsakorn Sunvittayakul,
  • Passorn Wonnapinij,
  • Pornchanan Chanchay,
  • Pitchaporn Wannitikul,
  • Sukhita Sathitnaitham,
  • Phongnapha Phanthanong,
  • Kanokpoo Changwitchukarn,
  • Anongpat Suttangkakul,
  • Hernan Ceballos and
  • Supachai Vuttipongchaikij
  • + 2 authors

15 March 2024

Cassava (Manihot esculenta Crantz) is a key industrial crop in Southeast Asia and a staple for food security in Africa, owing to its resilience and efficiency in starch production. This study aims to unravel the genetic determinants of specific cassa...

  • Communication
  • Open Access
3 Citations
1,409 Views
9 Pages

Identification of Goat Supernumerary Teat Phenotype Using Wide-Genomic Copy Number Variants

  • Lu Xu,
  • Weiyi Zhang,
  • Haoyuan Zhang,
  • Xiuqin Yang,
  • Simone Ceccobelli,
  • Yongju Zhao and
  • Guangxin E

13 November 2024

Supernumerary teats (SNTs) or nipples often emerge around the mammary line. This study performed a genome-wide selective sweep analysis (GWS) at the copy number variant (CNV) level using two selected signal calculation methods (VST and FST) to identi...

  • Review
  • Open Access
13 Citations
10,300 Views
14 Pages

27 January 2014

Genome-wide association studies (GWAS) have identified reproducible genetic associations with hundreds of human diseases and traits. The vast majority of these associated single nucleotide polymorphisms (SNPs) are non-coding, highlighting the challen...

  • Article
  • Open Access
1 Citations
2,213 Views
20 Pages

7 September 2024

Categorical (either binary or ordinal) quantitative traits are widely observed to measure count and resistance in plants. Unlike continuous traits, categorical traits often provide less detailed insights into genetic variation and possess a more comp...

  • Article
  • Open Access
2 Citations
4,864 Views
22 Pages

Heritability and Genome-Wide Association Study of Dog Behavioral Phenotypes in a Commercial Breeding Cohort

  • Nayan Bhowmik,
  • Shawna R. Cook,
  • Candace Croney,
  • Shanis Barnard,
  • Aynsley C. Romaniuk and
  • Kari J. Ekenstedt

17 December 2024

Background: Canine behavior plays an important role in the success of the human–dog relationship and the dog’s overall welfare, making selection for behavior a vital part of any breeding program. While behaviors are complex traits determi...

  • Article
  • Open Access
6 Citations
2,676 Views
12 Pages

7 April 2023

The structure of the maize kernels plays a critical role in determining maize yield and quality, and high-throughput, non-destructive microscope phenotypic characteristics acquisition and analysis are of great importance. In this study, Micro-CT tech...

  • Article
  • Open Access
14 Citations
4,827 Views
19 Pages

Role of Wheat Phosphorus Starvation Tolerance 1 Genes in Phosphorus Acquisition and Root Architecture

  • Hina Abbas,
  • Muhammad Kashif Naeem,
  • Marya Rubab,
  • Emilie Widemann,
  • Muhammad Uzair,
  • Nageen Zahra,
  • Bilal Saleem,
  • Amna Abdul Rahim,
  • Safeena Inam and
  • Sarfraz Shafiq
  • + 3 authors

10 March 2022

The wheat plant requires elevated phosphorus levels for its normal growth and yield, but continuously depleting non-renewable phosphorus reserves in the soil is one of the biggest challenges in agricultural production worldwide. The Phosphorus Starva...

  • Review
  • Open Access
2 Citations
2,425 Views
10 Pages

14 January 2022

Sepsis remains an important source of morbidity and mortality in children, despite the development of standardized care. In the last decades, there has been an increased interest in genetic and genomic approaches to early recognition and development...

  • Article
  • Open Access
3 Citations
2,229 Views
10 Pages

Utilization Strategies of Two Environment Phenotypes in Genomic Prediction

  • Qing Lin,
  • Jinyan Teng,
  • Xiaodian Cai,
  • Jiaqi Li and
  • Zhe Zhang

20 April 2022

Multiple environment phenotypes may be utilized to implement genomic prediction in plant breeding, while it is unclear about optimal utilization strategies according to its different availability. It is necessary to assess the utilization strategies...

  • Opinion
  • Open Access
8 Citations
4,176 Views
22 Pages

Regionally Adapted Model of an Ideal Malus×domestica Borkh Apple Variety for Industrial-Scale Cultivation in European Russia

  • Ivan M. Kulikov,
  • Julia V. Burmenko,
  • Natalya YU. Svistunova,
  • Sergey N. Evdokimenko,
  • Fedor F. Sazonov,
  • Tatyana A. Tumaeva and
  • Sergey N. Konovalov

10 December 2022

Apple is one of the most common fruit crops in the Russian fruit-growing industry, with huge varietal diversity and a vast cultivation area. The key regions for industrial-scale apple cultivation are the Central, Central Chernozem, and North Caucasia...

  • Article
  • Open Access
4,344 Views
13 Pages

6 April 2016

In many case-control genetic association studies, a secondary phenotype that may have common genetic factors with disease status can be identified. When information on the secondary phenotype is available only for the case group due to cost and diffe...

  • Article
  • Open Access
6 Citations
3,082 Views
13 Pages

Susceptibility Evaluation to Fire Blight and Genome-Wide Associations within a Collection of Asturian Apple Accessions

  • Belén García-Fernández,
  • Ramon Dolcet-Sanjuan,
  • Diego Micheletti,
  • María José Antón-Díaz,
  • Cristina Solsona,
  • Mercedes Fernández,
  • Xavier Abad and
  • Enrique Dapena

4 December 2023

Fire blight, caused by Erwinia amylovora, is one of the most devastating apple diseases. The selection of cultivars of low susceptibility and the study of the genetic mechanisms of the disease play important roles in fire blight management. The susce...

  • Review
  • Open Access
85 Citations
18,087 Views
34 Pages

15 July 2010

This article highlights advantages of entropy-based genetic diversity measures, at levels from gene expression to landscapes. Shannon’s entropy-based diversity is the standard for ecological communities. The exponentials of Shannon’s and the related...

  • Review
  • Open Access
2,935 Views
19 Pages

Bullous Pemphigoid Overlapping Psoriasis Vulgaris: A Rare Case Report and Literature Review

  • Maria-Alexandra Timofte,
  • Constantin Căruntu,
  • Beatrice Bălăceanu-Gurău,
  • Irina Mărgăritescu,
  • Călin Giurcăneanu and
  • Mara Mădălina Mihai

Bullous pemphigoid (BP) is a rare autoimmune disease, primarily affecting elderly individuals, that significantly impacts the patient’s quality of life. In contrast, psoriasis vulgaris (PV) is a common, chronic, immune-mediated skin condition r...

  • Article
  • Open Access
13 Citations
3,560 Views
13 Pages

30 June 2021

Indirect defenses are plant phenotypes that reduce damage by attracting natural enemies of plant pests and pathogens to leaves. Despite their economic and ecological importance, few studies have investigated the genetic underpinnings of indirect defe...

  • Article
  • Open Access
5 Citations
2,536 Views
13 Pages

Multi-Trait Exome-Wide Association Study of Back Pain-Related Phenotypes

  • Irina V. Zorkoltseva,
  • Elizaveta E. Elgaeva,
  • Nadezhda M. Belonogova,
  • Anatoliy V. Kirichenko,
  • Gulnara R. Svishcheva,
  • Maxim B. Freidin,
  • Frances M. K. Williams,
  • Pradeep Suri,
  • Yakov A. Tsepilov and
  • Tatiana I. Axenovich

19 October 2023

Back pain (BP) is a major contributor to disability worldwide, with heritability estimated at 40–60%. However, less than half of the heritability is explained by common genetic variants identified by genome-wide association studies. More powerf...

  • Article
  • Open Access
8 Citations
5,247 Views
17 Pages

Genome-Wide Survey Reveals Transcriptional Differences Underlying the Contrasting Trichome Phenotypes of Two Sister Desert Poplars

  • Jianchao Ma,
  • Xiaodong He,
  • Xiaotao Bai,
  • Zhimin Niu,
  • Bingbing Duan,
  • Ningning Chen,
  • Xuemin Shao and
  • Dongshi Wan

1 December 2016

Trichomes, which are widely used as an important diagnostic characteristic in plant species delimitation, play important roles in plant defense and adaptation to adverse environments. In this study, we used two sister poplar species, Populus pruinosa...

  • Article
  • Open Access
3 Citations
2,556 Views
18 Pages

Genome-Wide Association Study on Seedling Phenotypic Traits of Wheat under Different Nitrogen Conditions

  • Chenchen Hu,
  • Jinghui Li,
  • Jiajia Liu,
  • Dazhong Zhang,
  • Liqiao Jin,
  • Nian Yang,
  • Bipo Bai,
  • Zenghao Wang,
  • Suwei Feng and
  • Tiezhu Hu
  • + 1 author

1 December 2023

Nitrogen fertilizer input is the main determinant of wheat yield, and heavy nitrogen fertilizer application causes serious environmental pollution. It is important to understand the genetic response mechanism of wheat to nitrogen and select wheat ger...

  • Article
  • Open Access
3 Citations
2,394 Views
13 Pages

26 October 2022

Ginkgo biloba L., as one of the oldest tree species, is a very important medicinal plant due to the metabolites in its leaves. To explore the variations and genetic regulation of leaf phenotypic traits, 321 samples from 12 ancient populations in the...

  • Article
  • Open Access
18 Citations
3,117 Views
13 Pages

Genome-Wide Associative Study of Phenotypic Parameters of the 3D Body Model of Aberdeen Angus Cattle with Multiple Depth Cameras

  • Alexey Ruchay,
  • Vladimir Kolpakov,
  • Dianna Kosyan,
  • Elena Rusakova,
  • Konstantin Dorofeev,
  • Hao Guo,
  • Giovanni Ferrari and
  • Andrea Pezzuolo

19 August 2022

In beef cattle breeding, genome-wide association studies (GWAS) using single nucleotide polymorphisms (SNPs) arrays can reveal many loci of various production traits, such as growth, productivity, and meat quality. With the development of genome sequ...

  • Article
  • Open Access
12 Citations
4,007 Views
16 Pages

17 April 2021

Our objectives were to robustly characterize a cohort of Holstein cows for udder and teat type traits and perform high-density genome-wide association studies for those traits within the same group of animals, thereby improving the accuracy of the ph...

  • Article
  • Open Access
31 Citations
6,262 Views
17 Pages

19 November 2018

In the past years, the diversity of Capsicum has been mainly investigated through genetics and genomics approaches, fewer efforts have been made in the field of plant phenomics. Assessment of crop traits with high-throughput methodologies could enhan...

  • Article
  • Open Access
15 Citations
4,849 Views
20 Pages

Genome-Wide SNP Markers for Genotypic and Phenotypic Differentiation of Melon (Cucumis melo L.) Varieties Using Genotyping-by-Sequencing

  • Do Yoon Hyun,
  • Raveendar Sebastin,
  • Gi-An Lee,
  • Kyung Jun Lee,
  • Seong-Hoon Kim,
  • Eunae Yoo,
  • Sookyeong Lee,
  • Man-Jung Kang,
  • Seung Bum Lee and
  • Gyu-Taek Cho
  • + 2 authors

Melon (Cucumis melo L.) is an economically important horticultural crop with abundant morphological and genetic variability. Complex genetic variations exist even among melon varieties and remain unclear to date. Therefore, unraveling the genetic var...

  • Article
  • Open Access
946 Views
17 Pages

26 August 2025

This study aimed to identify candidate genes associated with chlorophyll content in rice via genome-wide association studies (GWAS) and to develop molecular markers for the selection of genetic resources and breeding lines exhibiting high chlorophyll...

  • Article
  • Open Access
442 Views
16 Pages

Phenotypic Evaluation and Genome-Wide Association Analysis of Cold Tolerance at Seedling Stage in Maize

  • Yishan Cheng,
  • Pedro García-Caparros,
  • Xiaohong Yin,
  • Dongxian Sun,
  • Yunhua Su,
  • Han Sun,
  • Yanye Ruan,
  • Shuisen Chen,
  • Jun Liu and
  • Zhifu Guo

11 December 2025

Low temperature exerts severe adverse effects on maize growth, particularly during the seedling stage. Screening for cold-tolerant maize genotypes is highly significant for identifying genes associated with cold tolerance and enhancing maize performa...

  • Article
  • Open Access
2 Citations
4,803 Views
18 Pages

SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations

  • Danai Veltra,
  • Virginia Theodorou,
  • Marina Katsalouli,
  • Pelagia Vorgia,
  • Georgios Niotakis,
  • Triantafyllia Tsaprouni,
  • Roser Pons,
  • Konstantina Kosma,
  • Afroditi Kampouraki and
  • Christalena Sofocleous
  • + 4 authors

SCN1A, the gene encoding for the Nav1.1 channel, exhibits dominant interneuron-specific expression, whereby variants disrupting the channel’s function affect the initiation and propagation of action potentials and neuronal excitability causing...

  • Article
  • Open Access
11 Citations
4,150 Views
23 Pages

Genome-Wide Association Analyses of Equine Metabolic Syndrome Phenotypes in Welsh Ponies and Morgan Horses

  • Elaine Norton,
  • Nichol Schultz,
  • Ray Geor,
  • Dianne McFarlane,
  • James Mickelson and
  • Molly McCue

6 November 2019

Equine metabolic syndrome (EMS) is a complex trait for which few genetic studies have been published. Our study objectives were to perform within breed genome-wide association analyses (GWA) to identify associated loci in two high-risk breeds, couple...

  • Article
  • Open Access
17 Citations
12,211 Views
18 Pages

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

  • Dóra Nagy,
  • Sarah Verheyen,
  • Kristen M. Wigby,
  • Artem Borovikov,
  • Artem Sharkov,
  • Valerie Slegesky,
  • Austin Larson,
  • Christina Fagerberg,
  • Charlotte Brasch-Andersen and
  • Denisa Weis
  • + 12 authors

15 January 2022

POGZ-related disorders (also known as White-Sutton syndrome) encompass a wide range of neurocognitive abnormalities and other accompanying anomalies. Disease severity varies widely among POGZ patients and studies investigating genotype-phenotype asso...

  • Case Report
  • Open Access
3 Citations
3,248 Views
7 Pages

19 October 2020

Duplications of chromosome 16p11.2, even though rare in the general population, are one of the most frequent known genetic causes of autism spectrum disorder and of other neurodevelopmental disorders. However, data about the neuro-behavioral phenotyp...

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