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Genes, Volume 13, Issue 6

2022 June - 168 articles

Cover Story: Tuberculosis leads to approximately 1.5 million deaths annually and is caused by Mycobacterium tuberculosis complex strains. Lineage 3 strains are particularly successful in South Asia, the suspected evolutionary origin, as well as North and East Africa. We sought to understand how lineage 3 strains came to the African continent. To this end, we performed genotyping of more than 2500 isolates from 38 countries and selected 373 isolates for whole genome analysis and a phylogeographic approach. The origin of lineage 3 could be located in India, and we found evidence for four independent introductions of lineage 3 strains to North/East Africa, in line with known ancient human exchanges and migrations. Our study further provides a systematic understanding of the genomic diversity of lineage 3 strains, which could be relevant for clinical trials of new vaccines or new therapeutics. View this paper
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Articles (168)

  • Article
  • Open Access
2 Citations
3,028 Views
18 Pages

Gene Conversion Explains Elevated Diversity in the Immunity Modulating APL1 Gene of the Malaria Vector Anopheles funestus

  • Jack Hearn,
  • Jacob M. Riveron,
  • Helen Irving,
  • Gareth D. Weedall and
  • Charles S. Wondji

20 June 2022

Leucine-rich repeat proteins and antimicrobial peptides are the key components of the innate immune response to Plasmodium and other microbial pathogens in Anopheles mosquitoes. The APL1 gene of the malaria vector Anopheles funestus has exceptional l...

  • Feature Paper
  • Review
  • Open Access
18 Citations
7,644 Views
16 Pages

Synthetic Lethality Targeting Polθ

  • Małgorzata Drzewiecka,
  • Gabriela Barszczewska-Pietraszek,
  • Piotr Czarny,
  • Tomasz Skorski and
  • Tomasz Śliwiński

20 June 2022

Research studies regarding synthetic lethality (SL) in human cells are primarily motivated by the potential of this phenomenon to be an effective, but at the same time, safe to the patient’s anti-cancer chemotherapy. Among the factors that are...

  • Article
  • Open Access
7 Citations
2,612 Views
15 Pages

The Sweetpotato Voltage-Gated K+ Channel β Subunit, KIbB1, Positively Regulates Low-K+ and High-Salinity Tolerance by Maintaining Ion Homeostasis

  • Hong Zhu,
  • Xue Yang,
  • Qiyan Li,
  • Jiayu Guo,
  • Tao Ma,
  • Shuyan Liu,
  • Shunyu Lin,
  • Yuanyuan Zhou,
  • Chunmei Zhao and
  • Jiongming Sui
  • + 1 author

20 June 2022

Voltage-gated K+ channel β subunits act as a structural component of Kin channels in different species. The β subunits are not essential to the channel activity but confer different properties through binding the T1 domain or the C-terminal...

  • Review
  • Open Access
15 Citations
5,990 Views
27 Pages

Psychosis in Parkinson’s Disease: A Lesson from Genetics

  • Efthalia Angelopoulou,
  • Anastasia Bougea,
  • Sokratis G. Papageorgiou and
  • Chiara Villa

20 June 2022

Psychosis in Parkinson’s disease (PDP) represents a common and debilitating condition that complicates Parkinson’s disease (PD), mainly in the later stages. The spectrum of psychotic symptoms are heterogeneous, ranging from minor phenomen...

  • Article
  • Open Access
8 Citations
3,786 Views
11 Pages

Identifying Rare Genetic Variants of Immune Mediators as Risk Factors for Autism Spectrum Disorder

  • Chunquan Cai,
  • Zhaoqing Yin,
  • Aiping Liu,
  • Hui Wang,
  • Shujuan Zeng,
  • Zhangxing Wang,
  • Huixian Qiu,
  • Shijun Li,
  • Jiaxiu Zhou and
  • Mingbang Wang

20 June 2022

Autism spectrum disorder (ASD) affects more than 1% of children, and there is no viable pharmacotherapeutic agent to treat the core symptoms of ASD. Studies have shown that children with ASD show changes in their levels of immune response molecules....

  • Article
  • Open Access
1 Citations
2,503 Views
8 Pages

20 June 2022

In the field of gene expression analysis, methods of integrating multiple gene expression profiles are still being developed and the existing methods have scope for improvement. The previously proposed tensor decomposition-based unsupervised feature...

  • Article
  • Open Access
11 Citations
3,302 Views
14 Pages

Genome-Wide Association Studies Reveal Candidate Genes Related to Stem Diameter in Cucumber (Cucumis sativus L.)

  • Yingying Yang,
  • Shaoyun Dong,
  • Han Miao,
  • Xiaoping Liu,
  • Zhuonan Dai,
  • Xiangsheng Li,
  • Xingfang Gu and
  • Shengping Zhang

19 June 2022

The stem diameter, an important agronomic trait, affects cucumber growth and yield. However, no genes responsible for cucumber stem diameter have been identified yet. In this study, the stem diameter of 88 cucumber core germplasms were measured in sp...

  • Article
  • Open Access
5 Citations
4,089 Views
21 Pages

Comparative Transcriptome Analysis of Organ-Specific Adaptive Responses to Hypoxia Provides Insights to Human Diseases

  • Kuo-Sheng Hung,
  • Shiow-Yi Chen,
  • Pang-Hung Hsu,
  • Bo-An Lin,
  • Chin-Hua Hu,
  • Cing-Han Yang,
  • Tun-Wen Pai,
  • Wen-Shyong Tzou and
  • Hsin-Yu Chung

19 June 2022

The common carp is a hypoxia-tolerant fish, and the understanding of its ability to live in low-oxygen environments has been applied to human health issues such as cancer and neuron degeneration. Here, we investigated differential gene expression cha...

  • Article
  • Open Access
18 Citations
3,957 Views
23 Pages

Integrated Analysis of a Ferroptosis-Related LncRNA Signature for Evaluating the Prognosis of Patients with Colorectal Cancer

  • Shaohua Xu,
  • Yanjie Zhou,
  • Junyun Luo,
  • Su Chen,
  • Jiahui Xie,
  • Hui Liu,
  • Yirong Wang and
  • Zhaoyong Li

19 June 2022

LncRNAs have been well known for their multiple functions in the tumorigenesis, development, and relapse of colorectal cancer (CRC). Accumulating studies demonstrated that the expression of lncRNAs can be regulated by ferroptosis, a biological proces...

  • Article
  • Open Access
8 Citations
3,708 Views
19 Pages

Screening of Differentially Expressed Genes and miRNAs in Hypothalamus and Pituitary Gland of Sheep under Different Photoperiods

  • Qingqing Liu,
  • Ran Di,
  • Chunhuan Ren,
  • Xiaoyun He,
  • Xiangyu Wang,
  • Qing Xia,
  • Mingxing Chu and
  • Zijun Zhang

19 June 2022

The reproduction of sheep is affected by many factors such as light, nutrition and genetics. The Hypothalamic-pituitary-gonadal (HPG) axis is an important pathway for sheep reproduction, and changes in HPG axis-related gene expression can affect shee...

  • Communication
  • Open Access
5 Citations
5,131 Views
13 Pages

19 June 2022

Non-ischemic dilated cardiomyopathy (DCM) is one of the most frequent pathologies requiring cardiac transplants. Even though the etiology of this disease is complex, frameshift mutations in the giant sarcomeric protein Titin could explain up to 25% o...

  • Article
  • Open Access
8 Citations
3,544 Views
26 Pages

19 June 2022

Terpenoids are naturally occurring compounds involved in respiration, photosynthesis, membrane fluidity, and pathogen interactions and are classified according to the structure of their carbon skeleton. Although most terpenoids possess pharmacologica...

  • Article
  • Open Access
7 Citations
6,576 Views
15 Pages

paPAML: An Improved Computational Tool to Explore Selection Pressure on Protein-Coding Sequences

  • Raphael Steffen,
  • Lynn Ogoniak,
  • Norbert Grundmann,
  • Anna Pawluchin,
  • Oliver Soehnlein and
  • Jürgen Schmitz

18 June 2022

Evolution is change over time. Although neutral changes promoted by drift effects are most reliable for phylogenetic reconstructions, selection-relevant changes are of only limited use to reconstruct phylogenies. On the other hand, comparative analys...

  • Review
  • Open Access
34 Citations
8,556 Views
12 Pages

Dominant Stickler Syndrome

  • Zack Soh,
  • Allan J. Richards,
  • Annie McNinch,
  • Philip Alexander,
  • Howard Martin and
  • Martin P. Snead

18 June 2022

The Stickler syndromes are a group of genetic connective tissue disorders associated with an increased risk of rhegmatogenous retinal detachment, deafness, cleft palate, and premature arthritis. This review article focuses on the molecular genetics o...

  • Article
  • Open Access
7 Citations
3,844 Views
10 Pages

Toxoplasma gondii Seropositivity Interacts with Catechol-O-methyltransferase Val105/158Met Variation Increasing the Risk of Schizophrenia

  • Paula Rovira,
  • Blanca Gutiérrez,
  • Antonio Sorlózano-Puerto,
  • José Gutiérrez-Fernández,
  • Esther Molina,
  • Margarita Rivera,
  • Rafael Martínez-Leal,
  • Inmaculada Ibanez-Casas,
  • María Victoria Martín-Laguna and
  • Jorge A. Cervilla
  • + 2 authors

18 June 2022

Schizophrenia is a heterogeneous and severe psychotic disorder. Epidemiological findings have suggested that the exposure to infectious agents such as Toxoplasma gondii (T. gondii) is associated with an increased risk for schizophrenia. On the other...

  • Article
  • Open Access
4 Citations
3,144 Views
17 Pages

Characterization of Immune-Based Molecular Subtypes and Prognostic Model in Prostate Adenocarcinoma

  • Li Guo,
  • Yihao Kang,
  • Daoliang Xia,
  • Yujie Ren,
  • Xueni Yang,
  • Yangyang Xiang,
  • Lihua Tang,
  • Dekang Ren,
  • Jiafeng Yu and
  • Tingming Liang
  • + 1 author

18 June 2022

Prostate adenocarcinoma (PRAD), also named prostate cancer, the most common visceral malignancy, is diagnosed in male individuals. Herein, in order to obtain immune-based subtypes, we performed an integrative analysis to characterize molecular subtyp...

  • Article
  • Open Access
17 Citations
3,967 Views
16 Pages

18 June 2022

Plant genetic diversity has a significant role in providing traits that can help meet future challenges, such as the need to adapt crops to changing climatic conditions or outbreaks of disease. Our aim in this study was to evaluate the diversity of 6...

  • Article
  • Open Access
3 Citations
3,856 Views
11 Pages

18 June 2022

The prevalence of germline BRCA1 or BRCA2 pathogenic variants (gBRCA1/2-PV) in patients with primary epithelial ovarian cancer (OC) in a rural area of Japan and their association with clinical characteristics, including treatment response and surviva...

  • Article
  • Open Access
3 Citations
2,596 Views
11 Pages

Identification of the Core Promoter and Variants Regulating Chicken CCKAR Expression

  • Zhepeng Wang,
  • Angus M. A. Reid,
  • Peter W. Wilson and
  • Ian C. Dunn

18 June 2022

Decreased expression of chicken cholecystokinin A receptor (CCKAR) attenuates satiety, which contributes to increased food intake and growth for modern broilers. The study aims to define the core promoter of CCKAR, and to identify variants associated...

  • Article
  • Open Access
10 Citations
4,016 Views
14 Pages

Tubulin TUBB4B Is Involved in Spermatogonia Proliferation and Cell Cycle Processes

  • Meiying Feng,
  • Kai Wang,
  • Shuying Fu,
  • Hengxi Wei,
  • Xiaokun Mu,
  • Li Li and
  • Shouquan Zhang

17 June 2022

Tubb4b (tubulin β-4b chain) is essential for cell growth and development as a microtubule network protein. Previous studies have shown that TUBB4B affects mouse pronucleus migration, but the gene function has yet to be elucidated. To study TUBB4...

  • Article
  • Open Access
4 Citations
2,822 Views
10 Pages

Strategy to Estimate Sample Sizes to Justify the Association between MMP1 SNP and Osteoarthritis

  • Chung-Cheng Kao,
  • Hsiang-En Hsu,
  • Jen-Chieh Lai,
  • Hsiang-Cheng Chen,
  • Su-Wen Chuang and
  • Meng-Chang Lee

17 June 2022

Background: the impact of knee osteoarthritis (OA) poses a formidable challenge to older adults. Studies have reported that genetic factors, such as MMP1, are one of important risk factors for knee OA. Although the relationship between the genetic po...

  • Review
  • Open Access
8 Citations
4,106 Views
15 Pages

Network-Based Methods for Approaching Human Pathologies from a Phenotypic Point of View

  • Juan A. G. Ranea,
  • James Perkins,
  • Mónica Chagoyen,
  • Elena Díaz-Santiago and
  • Florencio Pazos

17 June 2022

Network and systemic approaches to studying human pathologies are helping us to gain insight into the molecular mechanisms of and potential therapeutic interventions for human diseases, especially for complex diseases where large numbers of genes are...

  • Article
  • Open Access
7 Citations
3,816 Views
6 Pages

Investigation of Dombrock Blood Group Alleles and Genotypes among Saudi Blood Donors in Southwestern Saudi Arabia

  • Amr J. Halawani,
  • Abdullah S. Mansor,
  • Hamza M. Assaggaf,
  • Hibah A. Almasmoum,
  • Hisham I. Abu-Tawil,
  • Khalaf F. Alsharif,
  • Gasim Dobie and
  • Mahmoud M. Habibullah

17 June 2022

The Dombrock (DO) blood group system has two primary antigens, Doa and Dob, which can cause delayed hemolytic transfusion reactions. The paucity of specific monospecific antibodies can hamper the typing based on these antigens. Thus, blood group geno...

  • Article
  • Open Access
17 Citations
4,505 Views
17 Pages

Transcriptome and Differentially Expressed Gene Profiles in Mycelium, Primordium and Fruiting Body Development in Stropharia rugosoannulata

  • Haibo Hao,
  • Jinjing Zhang,
  • Qian Wang,
  • Jianchun Huang,
  • Jiaxiang Juan,
  • Benke Kuai,
  • Zhiyong Feng and
  • Hui Chen

17 June 2022

Stropharia rugosoannulata uses straw as a growth substrate during artificial cultivation and has been widely promoted in China. However, its fruiting body formation and development processes have not been elucidated. In this study, the developmental...

  • Article
  • Open Access
12 Citations
3,581 Views
15 Pages

16 June 2022

Sweetpotato (Ipomoea batatas (L.) Lam.), which has a complex genome, is one of the most important storage root crops in the world. Sweetpotato blades are considered as a potential source of natural antioxidants owing to their high phenolic content wi...

  • Article
  • Open Access
8 Citations
3,569 Views
15 Pages

Vasa Is a Potential Germ Cell Marker in Leopard Coral Grouper (Plectropomus leopardus)

  • Mingyi Wang,
  • Hui Ding,
  • Shaoxuan Wu,
  • Mengya Wang,
  • Cun Wei,
  • Bo Wang,
  • Zhenmin Bao and
  • Jingjie Hu

16 June 2022

Vasa (Ddx4, DEAD box polypeptide 4), an extremely specific marker of germ cells in vivo, is an ATP-dependent RNA helicase that plays an essential role in germ cell development and gametogenesis. However, the expression and function information about...

  • Feature Paper
  • Article
  • Open Access
7 Citations
4,343 Views
15 Pages

Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population

  • Mathieu Cerino,
  • Patricio González-Hormazábal,
  • Mario Abaji,
  • Sebastien Courrier,
  • Francesca Puppo,
  • Yves Mathieu,
  • Alejandra Trangulao,
  • Nicholas Earle,
  • Claudia Castiglioni and
  • Jorge A. Bevilacqua
  • + 14 authors

16 June 2022

Hereditary myopathies are a group of genetically determined muscle disorders comprising more than 300 entities. In Chile, there are no specific registries of the distinct forms of these myopathies. We now report the genetic findings of a series of Ch...

  • Article
  • Open Access
8 Citations
3,478 Views
15 Pages

Identification of Putative SNP Markers Associated with Resistance to Egyptian Loose Smut Race(s) in Spring Barley

  • Kamal A. M. Abo-Elyousr,
  • Amira M. I. Mourad,
  • P. Stephen Baenziger,
  • Abdelaal H. A. Shehata,
  • Peter E. Eckstein,
  • Aaron D. Beattie and
  • Ahmed Sallam

16 June 2022

Loose smut (LS) disease is a serious problem that affects barley yield. Breeding of resistant cultivars and identifying new genes controlling LS has received very little attention. Therefore, it is important to understand the genetic basis of LS cont...

  • Article
  • Open Access
19 Citations
3,124 Views
16 Pages

16 June 2022

The complete mitochondrial genomes (mitogenomes) of the tribes Coomaniellini and Dicercini were sequenced and described in this study, including Coomaniella copipes (16,196 bp), Coomaniella dentata (16,179 bp), and Dicerca corrugata (16,276 bp). Thes...

  • Article
  • Open Access
7 Citations
3,974 Views
11 Pages

Robust Prediction of Prognosis and Immunotherapy Response for Bladder Cancer through Machine Learning Algorithm

  • Shanshan Hu,
  • Shengying Gu,
  • Shuowen Wang,
  • Chendong Qi,
  • Chenyang Shi,
  • Fengdan Qian and
  • Guorong Fan

16 June 2022

The important roles of machine learning and ferroptosis in bladder cancer (BCa) are still poorly understood. In this study, a comprehensive analysis of 19 ferroptosis-related genes (FRGs) was performed in 1322 patients with BCa from four independent...

  • Review
  • Open Access
16 Citations
8,964 Views
16 Pages

16 June 2022

Oculocutaneous albinism (OCA) is an autosomal recessive syndromic and non-syndromic defect with deficient or a complete lack of the melanin pigment. The characteristics of OCA appears in skin, hair, and eyes with variable degree of pigmentation. Clin...

  • Article
  • Open Access
9 Citations
4,408 Views
23 Pages

15 June 2022

Italy hosts a large number of endemic freshwater fish species due to complex geological events which promoted genetic differentiation and allopatric speciation. Among them, the South European roach Sarmarutilus rubilio inhabits various freshwater env...

  • Article
  • Open Access
12 Citations
4,129 Views
14 Pages

Assembly of a Large Collection of Maxicircle Sequences and Their Usefulness for Leishmania Taxonomy and Strain Typing

  • Jose Carlos Solana,
  • Carmen Chicharro,
  • Emilia García,
  • Begoña Aguado,
  • Javier Moreno and
  • Jose M. Requena

15 June 2022

Parasites of medical importance, such as Leishmania and Trypanosoma, are characterized by the presence of thousands of circular DNA molecules forming a structure known as kinetoplast, within the mitochondria. The maxicircles, which are equivalent to...

  • Article
  • Open Access
4 Citations
2,790 Views
14 Pages

Variability in the Pre-Analytical Stages Influences Microbiome Laboratory Analyses

  • Aditi Kumar,
  • Kristin Gravdal,
  • Jonathan P. Segal,
  • Helen Steed,
  • Matthew J. Brookes and
  • Hafid O. Al-Hassi

15 June 2022

Introduction: There are numerous confounding variables in the pre-analytical steps in the analysis of gut microbial composition that affect data consistency and reproducibility. This study compared two DNA extraction methods from the same faecal samp...

  • Article
  • Open Access
26 Citations
3,983 Views
17 Pages

Genome-Wide Analysis of the WRKY Gene Family in Malus domestica and the Role of MdWRKY70L in Response to Drought and Salt Stresses

  • Ying Qin,
  • Haixia Yu,
  • Siyuan Cheng,
  • Zhu Liu,
  • Cheng Yu,
  • Xiaoli Zhang,
  • Xinjian Su,
  • Jingwen Huang,
  • Shuting Shi and
  • Xiaoqing Gong
  • + 2 authors

15 June 2022

The WRKY transcription factors are unique regulatory proteins in plants, which are important in the stress responses of plants. In this study, 113 WRKY genes were identified from the apple genome GDDH13 and a comprehensive analysis was performed, inc...

  • Article
  • Open Access
12 Citations
4,279 Views
23 Pages

Omics Analyses of Trichomonas vaginalis Actin and Tubulin and Their Participation in Intercellular Interactions and Cytokinesis

  • Sebastián Lorenzo-Benito,
  • Luis Alberto Rivera-Rivas,
  • Lizbeth Sánchez-Ayala,
  • Jaime Ortega-López,
  • Octavio Montes-Flores,
  • Daniel Talamás-Lara and
  • Rossana Arroyo

15 June 2022

Actin and tubulin proteins from Trichomonas vaginalis are crucial for morphogenesis and mitosis. This parasite has 10 and 11 genes coding bonafide actin and tubulin proteins, respectively. Hence, the goal of this work was to analyze these actin and t...

  • Article
  • Open Access
3 Citations
2,760 Views
17 Pages

Transcription Regulation of Cell Cycle Regulatory Genes Mediated by NtrX to Affect Sinorhizobium meliloti Cell Division

  • Shenghui Xing,
  • Wenjia Zheng,
  • Fang An,
  • Leqi Huang,
  • Xinwei Yang,
  • Shuang Zeng,
  • Ningning Li,
  • Khadidja Ouenzar,
  • Liangliang Yu and
  • Li Luo

15 June 2022

The cell division of the alfalfa symbiont, Sinorhizobium meliloti, is dictated by a cell cycle regulatory pathway containing the key transcription factors CtrA, GcrA, and DnaA. In this study, we found that NtrX, one of the regulators of nitrogen meta...

  • Article
  • Open Access
11 Citations
3,818 Views
9 Pages

Heterozygous NPR2 Variants in Idiopathic Short Stature

  • Lana Stavber,
  • Maria Joao Gaia,
  • Tinka Hovnik,
  • Barbara Jenko Bizjan,
  • Maruša Debeljak,
  • Jernej Kovač,
  • Jasna Šuput Omladič,
  • Tadej Battelino,
  • Primož Kotnik and
  • Klemen Dovč

15 June 2022

Heterozygous variants in the NPR2 gene, which encodes the B-type natriuretic peptide receptor (NPR-B), a regulator of skeletal growth, were reported in 2–6% cases of idiopathic short stature (ISS). Using next-generation sequencing (NGS), we aim...

  • Article
  • Open Access
17 Citations
3,150 Views
18 Pages

Transcriptome Analysis Reveals Roles of Sucrose in Anthocyanin Accumulation in ‘Kuerle Xiangli’ (Pyrus sinkiangensis Yü)

  • Xiangzhan Zhang,
  • Bo Li,
  • Ruiwei Duan,
  • Chunhong Han,
  • Lei Wang,
  • Jian Yang,
  • Long Wang,
  • Suke Wang,
  • Yanli Su and
  • Huabai Xue

14 June 2022

Pear (Pyrus L.) is one of the most important temperate fruit crops worldwide, with considerable economic value and significant health benefits. Red-skinned pears have an attractive appearance and relatively high anthocyanin accumulation, and are espe...

  • Article
  • Open Access
4 Citations
3,099 Views
20 Pages

Genetic and Epigenetic Association of Hepatocyte Nuclear Factor-1α with Glycosylation in Post-Traumatic Stress Disorder

  • Lucija Tudor,
  • Marcela Konjevod,
  • Gordana Nedic Erjavec,
  • Matea Nikolac Perkovic,
  • Suzana Uzun,
  • Oliver Kozumplik,
  • Vlatka Zoldos,
  • Gordan Lauc,
  • Dubravka Svob Strac and
  • Nela Pivac

14 June 2022

Post-traumatic stress disorder (PTSD) is a complex trauma-related disorder, the etiology and underlying molecular mechanisms of which are still unclear and probably involve different (epi)genetic and environmental factors. Protein N-glycosylation is...

  • Article
  • Open Access
2 Citations
2,702 Views
12 Pages

Excavation of Genes Responsive to Brassinosteroids by Transcriptome Sequencing in Adiantum flabellulatum Gametophytes

  • Zeping Cai,
  • Zhenyu Xie,
  • Xiaochen Wang,
  • Shuixian Zhang,
  • Qian Wu,
  • Xudong Yu,
  • Yi Guo,
  • Shuyi Gao,
  • Yunge Zhang and
  • Jiajia Luo
  • + 2 authors

14 June 2022

Brassinosteroids (BRs) are a class of polyhydroxysteroid plant hormones; they play important roles in the development and stress resistance of plants. The research on BRs has mainly been carried out in angiosperms, but in ferns—research is stil...

  • Case Report
  • Open Access
5 Citations
3,179 Views
10 Pages

A Clinical Case of a Homozygous Deletion in the APOA5 Gene with Severe Hypertriglyceridemia

  • Petr Andreevich Vasiluev,
  • Olga N. Ivanova,
  • Natalia A. Semenova,
  • Tatiana V. Strokova,
  • Natalia N. Taran,
  • Uliana V. Chubykina,
  • Marat V. Ezhov,
  • Ekaterina Y. Zakharova,
  • Elena L. Dadli and
  • Sergey I. Kutsev

14 June 2022

Background: Hypertriglyceridemia (HTG) is one of the most common forms of lipid metabolism disorders. The leading clinical manifestations are pancreatitis, atherosclerotic vascular lesions, and the formation of eruptive xanthomas. The most severe typ...

  • Article
  • Open Access
10 Citations
3,205 Views
16 Pages

Molecular Diversity and Phylogeny Reconstruction of Genus Colobanthus (Caryophyllaceae) Based on Mitochondrial Gene Sequences

  • Piotr Androsiuk,
  • Łukasz Paukszto,
  • Jan Paweł Jastrzębski,
  • Sylwia Eryka Milarska,
  • Adam Okorski and
  • Agnieszka Pszczółkowska

14 June 2022

Mitochondrial genomes have become an interesting object of evolutionary and systematic study both for animals and plants, including angiosperms. Although the framework of the angiosperm phylogeny was built on the information derived from chloroplast...

  • Review
  • Open Access
11 Citations
3,338 Views
12 Pages

14 June 2022

It is considered that brain ischemia can be causative connected to Alzheimer’s disease. In the CA1 and CA3 regions of the hippocampus and temporal cortex, genes related to Alzheimer’s disease, such as the amyloid protein precursor (APP),...

  • Review
  • Open Access
7 Citations
3,626 Views
10 Pages

Five-Years Review of RHCE Alleles Detected after Weak and/or Discrepant C Results in Southern France

  • Pascal Pedini,
  • Lugdivine Filosa,
  • Nelly Bichel,
  • Christophe Picard,
  • Monique Silvy,
  • Jacques Chiaroni,
  • Caroline Izard,
  • Laurine Laget and
  • Stéphane Mazières

14 June 2022

Immunohematology laboratories are regularly facing transfusion issues due to serological weaknesses. Altered (partial) RH antigens account for most of them. In some situations, RHCE variant alleles are involved. Herein we present our three-step molec...

  • Article
  • Open Access
4 Citations
2,715 Views
19 Pages

Tissue-Specific and Time-Dependent Expressions of PC4s in Bay Scallop (Argopecten irradians irradians) Reveal Function Allocation in Thermal Response

  • Ancheng Liu,
  • Xiujiang Hou,
  • Junhao Zhang,
  • Wen Wang,
  • Xuecheng Dong,
  • Jianshu Li,
  • Xinghai Zhu,
  • Qiang Xing,
  • Xiaoting Huang and
  • Zhenmin Bao
  • + 1 author

13 June 2022

Transcriptional coactivator p15 (PC4) encodes a structurally conserved but functionally diverse protein that plays crucial roles in RNAP-II-mediated transcription, DNA replication and damage repair. Although structures and functions of PC4 have been...

  • Article
  • Open Access
7 Citations
4,048 Views
24 Pages

Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity

  • Eman A. Rabie,
  • Inas S. M. Sayed,
  • Khalda Amr,
  • Hoda A. Ahmed,
  • Mostafa I. Mostafa,
  • Nehal F. Hassib,
  • Heba El-Sayed,
  • Suher K. Zada and
  • Ghada El-Kamah

13 June 2022

Ectodermal dysplasia (ED) are hereditary disorders characterized by the disturbance of the ectodermal development of at least two of four ectodermal tissues: teeth, hair, nails and sweat glands. Clinical classification of ED is challenged by overlapp...

  • Article
  • Open Access
17 Citations
5,708 Views
37 Pages

Bioinformatic Prioritization and Functional Annotation of GWAS-Based Candidate Genes for Primary Open-Angle Glaucoma

  • Nigus G. Asefa,
  • Zoha Kamali,
  • Satyajit Pereira,
  • Ahmad Vaez,
  • Nomdo Jansonius,
  • Arthur A. Bergen and
  • Harold Snieder

13 June 2022

Background: Primary open-angle glaucoma (POAG) is the most prevalent glaucoma subtype, but its exact etiology is still unknown. In this study, we aimed to prioritize the most likely ‘causal’ genes and identify functional characteristics a...

  • Article
  • Open Access
21 Citations
3,752 Views
9 Pages

Old and New Systemic Immune-Inflammation Indexes Are Associated with Overall Survival of Glioblastoma Patients Treated with Radio-Chemotherapy

  • Francesco Pasqualetti,
  • Celeste Giampietro,
  • Nicola Montemurro,
  • Noemi Giannini,
  • Giovanni Gadducci,
  • Paola Orlandi,
  • Eleonora Natali,
  • Paolo Chiarugi,
  • Alessandra Gonnelli and
  • Fabiola Paiar
  • + 11 authors

13 June 2022

Background. Systemic immunity and inflammation indexes (SI) derived from blood cells have gained increasing attention in clinical oncology as potential biomarkers that are associated with survival. Materials and methods. We tested 12 different SI usi...

  • Article
  • Open Access
1 Citations
2,400 Views
9 Pages

Potential Influence of Age and Diabetes Mellitus Type 1 on MSH2 (MutS homolog 2) Expression in a Rat Kidney Tissue

  • Paško Babić,
  • Natalija Filipović,
  • Lejla Ferhatović Hamzić,
  • Livia Puljak,
  • Katarina Vukojević and
  • Benjamin Benzon

13 June 2022

Background: Homeostasis of proliferating tissues is strongly dependent on intact DNA. Both neoplastic and non-neoplastic diseases have been associated with MSH2 (MutS homolog 2, a mismatch repair protein) deficiency. In this study, we examined how ag...

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Genes - ISSN 2073-4425