Pubfacts - Scientific Publication Data
  • Categories
  • |
  • Journals
  • |
  • Authors
  • Login
  • Categories
  • Journals

Search Our Scientific Publications & Authors

Publications
  • Publications
  • Authors
find publications by category +
Translate page:

The ARVD/C genetic variants database: 2014 update.

Authors:
Elisabetta Lazzarini Jan D H Jongbloed Kalliopi Pilichou Gaetano Thiene Cristina Basso Hennie Bikker Bart Charbon Morris Swertz J Peter van Tintelen Paul A van der Zwaag

Hum Mutat 2015 Apr 19;36(4):403-10. Epub 2015 Mar 19.

Department of Cardiac, Thoracic and Vascular Sciences, University of Padua, Padua, Italy; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease characterized by myocardial atrophy, fibro-fatty replacement, and a high risk of ventricular arrhythmias that lead to sudden death. In 2009, genetic data from 57 publications were collected in the arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) Genetic Variants Database (freeware available at http://www.arvcdatabase.info), which comprised 481 variants in eight ACM-associated genes. In recent years, deep genetic sequencing has increased our knowledge of the genetics of ACM, revealing a large spectrum of nucleotide variations for which pathogenicity needs to be assessed. As of April 20, 2014, we have updated the ARVD/C database into the ARVD/C database to contain more than 1,400 variants in 12 ACM-related genes (PKP2, DSP, DSC2, DSG2, JUP, TGFB3, TMEM43, LMNA, DES, TTN, PLN, CTNNA3) as reported in more than 160 references. Of these, only 411 nucleotide variants have been reported as pathogenic, whereas the significance of the other approximately 1,000 variants is still unknown. This comprehensive collection of ACM genetic data represents a valuable source of information on the spectrum of ACM-associated genes and aims to facilitate the interpretation of genetic data and genetic counseling.

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22765DOI Listing
April 2015

Publication Analysis

Top Keywords

genetic data
12
variants database
8
acm-associated genes
8
arvd/c database
8
genetic variants
8
arvd/c genetic
8
genetic
6
variants
6
database 1400
4
database arvd/c
4
updated arvd/c
4
2014 updated
4
1400 variants
4
genes pkp2
4
dsc2 dsg2
4
dsg2 jup
4
dsp dsc2
4
pkp2 dsp
4
acm-related genes
4
april 2014
4

Altmetric Statistics


Show full details
4 Total Shares
4 Tweets
4 Citations

Similar Publications

[Clinical follow-up and genetic analysis of six cases with hypophosphatasia].

Authors:
M Liu Y Zhao X J Liang B Y Cao C Su J J Chen C X Gong

Zhonghua Er Ke Za Zhi 2021 Mar;59(3):218-222

Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.

To analyze the clinical, genetic characteristics and follow-up data of Chinese patients with hypophosphatasia (HPP). A retrospective analysis was conducted on six children with HPP admitted to the Department of Endocrinology, Genetics and Metabolism in Beijing Children's Hospital from October 2010 to January 2019. Summarized the clinical and follow-up data of all six patients, as well as the pathogenic variants of five children. Read More

View Article and Full-Text PDF
March 2021
Similar Publications

Validation of the German Version of the Mind Excessively Wandering Scale (MEWS-G).

Authors:
Helmut Nakovics Dorit Benoit Philip Asherson Matthias Luderer Barbara Alm Sabine Vollstädt-Klein Alexandra Philipsen Florence Mowlem Nicole Fischer Esther Sobanski

Fortschr Neurol Psychiatr 2021 Feb 26. Epub 2021 Feb 26.

Klinik für Psychiatrie und Psychotherapie, Zentralinstitut für Seelische Gesundheit Klinische Fakultät Mannheim, Universität Heidelberg.

Increasing evidence shows that unintentional mind wandering is linked to Attention Deficit Hyperactivity Disorder (ADHD) and that its frequency contributes to symptom severity and functional impairment in ADHD. However, empirical data on mind wandering in adult ADHD are still scarce, and a validated scale to assess mind wandering in German adult ADHD patients is lacking. The primary aim of this study is to assess the psychometric properties of the German version of the recently published Mind Excessively Wandering Scale (MEWS-G) in terms of factorial structure and factor stability, internal consistency and construct validity. Read More

View Article and Full-Text PDF
February 2021
Similar Publications

Endangered predators and endangered prey: Seasonal diet of Southern Resident killer whales.

Authors:
M Bradley Hanson Candice K Emmons Michael J Ford Meredith Everett Kim Parsons Linda K Park Jennifer Hempelmann Donald M Van Doornik Gregory S Schorr Jeffrey K Jacobsen Mark F Sears Maya S Sears John G Sneva Robin W Baird Lynne Barre

PLoS One 2021 3;16(3):e0247031. Epub 2021 Mar 3.

Protected Resources Division, West Coast Regional Office, National Marine Fisheries Service, National Oceanic and Atmospheric Administration, Seattle, Washington, United States of America.

Understanding diet is critical for conservation of endangered predators. Southern Resident killer whales (SRKW) (Orcinus orca) are an endangered population occurring primarily along the outer coast and inland waters of Washington and British Columbia. Insufficient prey has been identified as a factor limiting their recovery, so a clear understanding of their seasonal diet is a high conservation priority. Read More

View Article and Full-Text PDF
March 2021
Similar Publications

Clustering patterns mirror the geographical distribution and genetic history of Lemnos and Lesvos sheep populations.

Authors:
Antonios Kominakis Eirini Tarsani Ariadne L Hager-Theodorides Ioannis Mastranestasis Ioannis Hadjigeorgiou

PLoS One 2021 3;16(3):e0247787. Epub 2021 Mar 3.

Department of Animal Science, Agricultural University of Athens, Athens, Greece.

Elucidating the genetic variation and structure of Lemnos and Lesvos sheep is critical for maintaining local genetic diversity, ecosystem integrity and resilience of local food production of the two North Aegean islands. In the present study, we explored genetic diversity and differentiation as well as population structure of the Lemnos and Lesvos sheep. Furthermore, we sought to identify a small panel of markers with the highest discriminatory power to assign animals across islands. Read More

View Article and Full-Text PDF
March 2021
Similar Publications

Analysis of (co) variance components and estimation of breeding value of growth and production traits in Dahlem Red chicken using pedigree relationship in an animal model.

Authors:
U Rajkumar L Leslie Leo Prince K S Rajaravindra S Haunshi M Niranjan R N Chatterjee

PLoS One 2021 3;16(3):e0247779. Epub 2021 Mar 3.

ICAR-Directorate of Poultry Research, Rajendranagar, Hyderabad, Telangana, India.

Variance and covariance components of growth and production traits were analyzed employing REML animal model to assess the Dahlem Red (PD-3) chicken population for direct additive genetic, maternal effects and to estimate the estimated breeding value (EBV), genetic parameters, genetic trends and rate of inbreeding (ΔF) utilizing seven generation's data. The generation and hatch had significant (P≤0.01) effect on the body weight at 0 day (BW0), 2 (BW2), 4 (BW4) and 6 weeks (BW6) and shank length at six weeks of age (SL6). Read More

View Article and Full-Text PDF
March 2021
Similar Publications
© 2021 PubFacts.
  • About PubFacts
  • Privacy Policy
  • Sitemap