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Genes, Volume 8, Issue 7

July 2017 - 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
48 Citations
14,554 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...

  • Article
  • Open Access
47 Citations
9,137 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
  • Edwin M. Stone
  • + 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...

  • Review
  • Open Access
43 Citations
7,570 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...

  • Communication
  • Open Access
30 Citations
4,553 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...

  • Review
  • Open Access
72 Citations
15,898 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...

  • Commentary
  • Open Access
22 Citations
5,888 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...

  • Article
  • Open Access
60 Citations
9,468 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...

  • Review
  • Open Access
37 Citations
10,639 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...

  • Article
  • Open Access
13 Citations
5,894 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...

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Genes - ISSN 2073-4425