You are currently viewing a new version of our website. To view the old version click .

Genes, Volume 10, Issue 12

December 2019 - 107 articles

Cover Story: Acute myeloid leukemia (AML) clinical settings cannot do without molecular testing to confirm or rule out predictive biomarkers for prognostic stratification, in order to initiate or withhold targeted therapy. In this context, we present a nanopore-based assay for rapid (24 hours) sequencing of six genes (NPM1, FLT3, CEBPA, TP53, IDH1, and IDH2) that are recurrently mutated in AML. Nanopore ability to generate long reads allows a more accurate detection of longer FLT3 internal tandem duplications and phasing double CEBPA mutations. The workflow proposed can potentially enable all basic molecular biology laboratories to perform detailed targeted gene sequencing analysis in AML patients, in order to define the prognosis and the treatment. View this paper.
  • Issues are regarded as officially published after their release is announced to the table of contents alert mailing list .
  • You may sign up for email alerts to receive table of contents of newly released issues.
  • PDF is the official format for papers published in both, html and pdf forms. To view the papers in pdf format, click on the "PDF Full-text" link, and use the free Adobe Reader to open them.

Articles (107)

  • Review
  • Open Access
15 Citations
6,987 Views
13 Pages

17 December 2019

The importance of genome organization at the supranucleosomal scale in the control of gene expression is increasingly recognized today. In mammals, Topologically Associating Domains (TADs) and the active/inactive chromosomal compartments are two of t...

  • Review
  • Open Access
140 Citations
19,433 Views
22 Pages

The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye

  • Dulce Lima Cunha,
  • Gavin Arno,
  • Marta Corton and
  • Mariya Moosajee

17 December 2019

The transcription factor PAX6 is essential in ocular development in vertebrates, being considered the master regulator of the eye. During eye development, it is essential for the correct patterning and formation of the multi-layered optic cup and it...

  • Article
  • Open Access
59 Citations
6,008 Views
9 Pages

A 24-Month Follow-Up Study of the Effect of Intra-Articular Injection of Autologous Microfragmented Fat Tissue on Proteoglycan Synthesis in Patients with Knee Osteoarthritis

  • Igor Borić,
  • Damir Hudetz,
  • Eduard Rod,
  • Željko Jeleč,
  • Trpimir Vrdoljak,
  • Andrea Skelin,
  • Ozren Polašek,
  • Mihovil Plečko,
  • Irena Trbojević-Akmačić and
  • Gordan Lauc
  • + 1 author

17 December 2019

Osteoarthritis (OA) is a widely prevalent disease worldwide, and with an increasingly ageing society, it has become a challenge for the field of regenerative medicine. OA is a disease process involving multiple joint tissues, including those not visi...

  • Article
  • Open Access
6 Citations
4,651 Views
14 Pages

Autism in Fragile X Syndrome; A Functional MRI Study of Facial Emotion-Processing

  • Andrew G. McKechanie,
  • Sonya Campbell,
  • Sarah E. A. Eley and
  • Andrew C. Stanfield

17 December 2019

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder, and among those with fragile X syndrome, approximately 1/3rd meet a threshold for an autism spectrum disorder (ASD) diagnosis. Previo...

  • Article
  • Open Access
8 Citations
4,837 Views
9 Pages

Danio Rerio as Model Organism for Adenoviral Vector Evaluation

  • Paola Gulías,
  • Jorge Guerra-Varela,
  • Manuela Gonzalez-Aparicio,
  • Ana Ricobaraza,
  • Africa Vales,
  • Gloria Gonzalez-Aseguinolaza,
  • Rubén Hernandez-Alcoceba and
  • Laura Sánchez

17 December 2019

Viral vector use is wide-spread in the field of gene therapy, with new clinical trials starting every year for different human pathologies and a growing number of agents being approved by regulatory agencies. However, preclinical testing is long and...

  • Article
  • Open Access
23 Citations
5,386 Views
19 Pages

16 December 2019

Quinoa (Chenopodium quinoa Willd.), a model halophytic crop species, was used to shed light on salt tolerance mechanisms at the transcriptomic level. An RNA-sequencing analysis of genotype R49 at an early vegetative stage was performed by Illumina pa...

  • Editorial
  • Open Access
9 Citations
5,662 Views
5 Pages

16 December 2019

Since ancient times, the importance of physical activity (PA) and of a wholesome diet for human health has been clearly recognized. However, only recently, it has been acknowledged that PA can reverse at least some of the unwanted effects of a sedent...

  • Article
  • Open Access
3 Citations
3,950 Views
8 Pages

Real-Time Quantitative PCR Analysis of the Expression Pattern of the Hypoglycemic Polypeptide-P Gene in Momordica charantia

  • Yi-Shuai Wang,
  • Xiang-Qing Zeng,
  • Xu-Zhong Yang,
  • Wei Liu,
  • Peng-Fei Li,
  • Fu-Jun Wang and
  • Jian Zhao

16 December 2019

This study was designed to establish a real-time quantitative polymerase chain reaction (qPCR) method to rapidly and reliably analyze the hypoglycemic polypeptide-P gene expression pattern in Momordica charantia (MC) and to examine its expression cha...

  • Article
  • Open Access
6 Citations
3,649 Views
9 Pages

Increased Overall Mortality Even after Risk Reducing Surgery for BRCA-Positive Women in Western Sweden

  • Anna Öfverholm,
  • Zakaria Einbeigi,
  • Antonia Wigermo,
  • Erik Holmberg and
  • Per Karsson

16 December 2019

Women with BRCA variants have a high lifetime risk of developing breast and ovarian cancer. The aim of this study was to investigate the standard incidence ratios (SIR) for breast and ovarian cancer and standard mortality ratios (SMR) in a population...

  • Article
  • Open Access
26 Citations
4,139 Views
14 Pages

16 December 2019

Laccases belong to ligninolytic enzymes and play important roles in various biological processes of filamentous fungi, including fruiting-body formation and lignin degradation. The process of fruiting-body development in Lentinula edodes is complex a...

of 11

Get Alerted

Add your email address to receive forthcoming issues of this journal.

XFacebookLinkedIn
Genes - ISSN 2073-4425