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Genes, Volume 8, Issue 7

2017 July - 21 articles

Cover Story: Retinitis pigmentosa (RP), a group of disorders leading to degeneration of the eye’s retina, is genetically heterogeneous. EYS (eyes shut homolog) gene mutations are a major cause of autosomal recessive (ar) RP worldwide and are among the photoreceptor ciliopathies. Without a mammalian disease model for EYS-RP, we studied photoreceptor function and structure non-invasively in patients. Longitudinal data showed EYS-RP to be a more rapidly progressive disease than other arRP ciliopathies. View the paper
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Articles (21)

  • Review
  • Open Access
38 Citations
12,254 Views
30 Pages

Regulation and Modulation of Human DNA Polymerase δ Activity and Function

  • Marietta Y. W. T. Lee,
  • Xiaoxiao Wang,
  • Sufang Zhang,
  • Zhongtao Zhang and
  • Ernest Y. C. Lee

24 July 2017

This review focuses on the regulation and modulation of human DNA polymerase δ (Pol δ). The emphasis is on the mechanisms that regulate the activity and properties of Pol δ in DNA repair and replication. The areas covered are the degradation of the p...

(This article belongs to the Special Issue DNA Replication Controls)
  • Case Report
  • Open Access
10 Citations
5,007 Views
6 Pages

Outcome of Full-Thickness Macular Hole Surgery in Choroideremia

  • Mays Talib,
  • Leonoor S. Koetsier,
  • Robert E. MacLaren and
  • Camiel J.F. Boon

21 July 2017

The development of a macular hole is relatively common in retinal dystrophies eligible for gene therapy such as choroideremia. However, the subretinal delivery of gene therapy requires an uninterrupted retina to allow dispersion of the viral vector....

(This article belongs to the Special Issue Inherited Retinal Disease: Novel Candidate Genes, Genotype–Phenotype Correlations and Inheritance Models)
  • Review
  • Open Access
49 Citations
10,930 Views
18 Pages

21 July 2017

An increasing number of horizontal gene transfer (HGT) events from bacteria to animals have been reported in the past years, many of which involve Wolbachia bacterial endosymbionts and their invertebrate hosts. Most transferred Wolbachia genes are ne...

(This article belongs to the Special Issue Horizontal Gene Transfer)
  • Article
  • Open Access
4 Citations
5,325 Views
14 Pages

Boron Tolerance in Aspergillus nidulans Is Sustained by the SltA Pathway Through the SLC-Family Transporters SbtA and SbtB

  • María Villarino,
  • Oier Etxebeste,
  • Gorka Mendizabal,
  • Aitor Garzia,
  • Unai Ugalde and
  • Eduardo A. Espeso

21 July 2017

Microbial cells interact with the environment by adapting to external changes. Signal transduction pathways participate in both sensing and responding in the form of modification of gene expression patterns, enabling cell survival. The filamentous fu...

(This article belongs to the Section Microbial Genetics and Genomics)
  • Article
  • Open Access
12 Citations
5,074 Views
16 Pages

Developmental Expression of HSP60 and HSP10 in the Coilia nasus Testis during Upstream Spawning Migration

  • Di-An Fang,
  • Yan-Feng Zhou,
  • Min-Ying Zhang,
  • Dong-Po Xu,
  • Kai Liu and
  • Jin-Rong Duan

21 July 2017

Heat shock protein 60 (HSP60) and heat shock protein 10 (HSP10) are important chaperones, which have been proven to have essential roles in mediating the correct folding of nuclear encoded proteins imported to mitochondria. Mitochondria are known as...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
36 Citations
6,470 Views
16 Pages

20 July 2017

Inositol is a cyclic polyol that is involved in various physiological processes, including signal transduction and stress adaptation in plants. l-myo-inositol monophosphatase (IMPase) is one of the metal-dependent phosphatase family members and catal...

(This article belongs to the Section Plant Genetics and Genomics)
  • Article
  • Open Access
10 Citations
5,740 Views
13 Pages

Cloning and Characterization of ThSHRs and ThSCR Transcription Factors in Taxodium Hybrid ‘Zhongshanshan 406’

  • Zhiquan Wang,
  • Yunlong Yin,
  • Jianfeng Hua,
  • Wencai Fan,
  • Chaoguang Yu,
  • Lei Xuan and
  • Fangyuan Yu

20 July 2017

Among the GRAS family of transcription factors, SHORT ROOT (SHR) and SCARECROW (SCR) are key regulators of the formation of root tissues. In this study, we isolated and characterized two genes encoding SHR proteins and one gene encoding an SCR protei...

(This article belongs to the Section Plant Genetics and Genomics)
  • Review
  • Open Access
16 Citations
11,213 Views
18 Pages

Time to Spread Your Wings: A Review of the Avian Ancient DNA Field

  • Alicia Grealy,
  • Nicolas J. Rawlence and
  • Michael Bunce

18 July 2017

Ancient DNA (aDNA) has the ability to inform the evolutionary history of both extant and extinct taxa; however, the use of aDNA in the study of avian evolution is lacking in comparison to other vertebrates, despite birds being one of the most species...

(This article belongs to the Special Issue Novel and Neglected Areas of Ancient DNA Research)
  • Article
  • Open Access
9 Citations
8,109 Views
12 Pages

Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis

  • Jens Treutlein,
  • Josef Frank,
  • Fabian Streit,
  • Céline S. Reinbold,
  • Dilafruz Juraeva,
  • Franziska Degenhardt,
  • Liz Rietschel,
  • Stephanie H. Witt,
  • Andreas J. Forstner and
  • Marcella Rietschel
  • + 32 authors

17 July 2017

The present study investigated the genetic contribution to alcohol dependence (AD) using genome-wide association data from three German samples. These comprised patients with: (i) AD; (ii) chronic alcoholic pancreatitis (ACP); and (iii) alcohol-relat...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Communication
  • Open Access
18 Citations
6,506 Views
13 Pages

Evolutionary Origins of Cancer Driver Genes and Implications for Cancer Prognosis

  • Xin-Yi Chu,
  • Ling-Han Jiang,
  • Xiong-Hui Zhou,
  • Ze-Jia Cui and
  • Hong-Yu Zhang

14 July 2017

The cancer atavistic theory suggests that carcinogenesis is a reverse evolution process. It is thus of great interest to explore the evolutionary origins of cancer driver genes and the relevant mechanisms underlying the carcinogenesis. Moreover, the...

(This article belongs to the Special Issue Integrative Genomics and Systems Medicine in Cancer)
  • Editorial
  • Open Access
3 Citations
4,296 Views
4 Pages

13 July 2017

In 1957, Conrad H. Waddington published a paper in which he demonstrated the inheritance of an acquired characteristic in a population in response to an environmental stimulus [1].[...]

(This article belongs to the Special Issue Role of Epigenetic Gene Regulation in Brain Function)
  • Review
  • Open Access
54 Citations
16,002 Views
26 Pages

13 July 2017

Following the discovery in the late 1980s that hard tissues such as bones and teeth preserve genetic information, the field of ancient DNA analysis has typically concentrated upon these substrates. The onset of high-throughput sequencing, combined wi...

(This article belongs to the Special Issue Novel and Neglected Areas of Ancient DNA Research)
  • Article
  • Open Access
52 Citations
10,581 Views
19 Pages

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

  • David B. McGuigan,
  • Elise Heon,
  • Artur V. Cideciyan,
  • Rinki Ratnapriya,
  • Monica Lu,
  • Alexander Sumaroka,
  • Alejandro J. Roman,
  • Vaishnavi Batmanabane,
  • Alexandra V. Garafalo and
  • Samuel G. Jacobson
  • + 2 authors

12 July 2017

Mutations in the EYS (eyes shut homolog) gene are a common cause of autosomal recessive (ar) retinitis pigmentosa (RP). Without a mammalian model of human EYS disease, there is limited understanding of details of disease expression and rates of progr...

(This article belongs to the Special Issue Inherited Retinal Disease: Novel Candidate Genes, Genotype–Phenotype Correlations and Inheritance Models)
  • Review
  • Open Access
44 Citations
8,280 Views
13 Pages

The Telomeric Complex and Metabolic Disease

  • Henriette Kirchner,
  • Fozia Shaheen,
  • Hannes Kalscheuer,
  • Sebastian M. Schmid,
  • Henrik Oster and
  • Hendrik Lehnert

7 July 2017

The attrition of telomeres is believed to be a key event not only in mammalian aging, but also in disturbed nutrient sensing, which could lead to numerous metabolic dysfunctions. The current debate focuses mainly on the question whether telomere shor...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Communication
  • Open Access
35 Citations
4,997 Views
13 Pages

7 July 2017

Black locust (Robinia pseudoacacia L. of the family Fabaceae) is an ecologically and economically important deciduous tree. However, few genomic resources are available for this forest species, and few effective expressed sequence tag-derived simple...

(This article belongs to the Section Plant Genetics and Genomics)
  • Review
  • Open Access
79 Citations
18,135 Views
32 Pages

MYC Modulation around the CDK2/p27/SKP2 Axis

  • Per Hydbring,
  • Alina Castell and
  • Lars-Gunnar Larsson

30 June 2017

MYC is a pleiotropic transcription factor that controls a number of fundamental cellular processes required for the proliferation and survival of normal and malignant cells, including the cell cycle. MYC interacts with several central cell cycle regu...

(This article belongs to the Special Issue MYC Networks)
  • Commentary
  • Open Access
23 Citations
6,374 Views
15 Pages

30 June 2017

Genomic fidelity in the humans is continuously challenged by genotoxic reactive oxygen species (ROS) generated both endogenously during metabolic processes, and by exogenous agents. Mispairing of most ROS-induced oxidized base lesions during DNA repl...

(This article belongs to the Special Issue Replication and Transcription Associated DNA Repair)
  • Article
  • Open Access
66 Citations
10,529 Views
22 Pages

28 June 2017

Without physical contact with plants, certain plant growth-promoting rhizobacteria (PGPR) can release volatile organic compounds (VOCs) to regulate nutrient acquisition and induce systemic immunity in plants. However, whether the PGPR-emitted VOCs ca...

(This article belongs to the Special Issue Genetic Regulation of Abiotic Stress Responses)
  • Review
  • Open Access
38 Citations
11,680 Views
12 Pages

The Role of Replication-Associated Repair Factors on R-Loops

  • Vaibhav Bhatia,
  • Emilia Herrera-Moyano,
  • Andrés Aguilera and
  • Belén Gómez-González

27 June 2017

The nascent RNA can reinvade the DNA double helix to form a structure termed the R-loop, where a single-stranded DNA (ssDNA) is accompanied by a DNA-RNA hybrid. Unresolved R-loops can impede transcription and replication processes and lead to genomic...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
14 Citations
6,426 Views
23 Pages

Identification, Characterization and Expression Profiling of Stress-Related Genes in Easter Lily (Lilium formolongi)

  • Jewel Howlader,
  • Jong-In Park,
  • Arif Hasan Khan Robin,
  • Kanij Rukshana Sumi and
  • Ill-Sup Nou

27 June 2017

Biotic and abiotic stresses are the major causes of crop loss in lily worldwide. In this study, we retrieved 12 defense-related expressed sequence tags (ESTs) from the NCBI database and cloned, characterized, and established seven of these genes as s...

(This article belongs to the Special Issue Genetic Regulation of Abiotic Stress Responses)
  • Article
  • Open Access
30 Citations
8,429 Views
14 Pages

Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions

  • Caroline Brandl,
  • Heidi L. Schulz,
  • Peter Charbel Issa,
  • Johannes Birtel,
  • Richard Bergholz,
  • Clemens Lange,
  • Claudia Dahlke,
  • Ditta Zobor,
  • Bernhard H. F. Weber and
  • Heidi Stöhr

23 June 2017

A significant portion of patients diagnosed with vitelliform macular dystrophy (VMD) do not carry causative mutations in the classic VMD genes BEST1 or PRPH2. We therefore performed a mutational screen in a cohort of 106 BEST1/PRPH2-negative VMD pati...

(This article belongs to the Special Issue Inherited Retinal Disease: Novel Candidate Genes, Genotype–Phenotype Correlations and Inheritance Models)
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Genes - ISSN 2073-4425