TY  - JOUR
A1  - Germain, Dominique P.
A1  - Brand, Eva
A1  - Burlina, Alessandro
A1  - Cecchi, Franco
A1  - Garman, Scott C.
A1  - Kempf, Judy
A1  - Laney, Dawn A.
A1  - Linhart, Aleš
A1  - Maródi, László
A1  - Nicholls, Kathy
A1  - Ortiz, Alberto
A1  - Pieruzzi, Federico
A1  - Shankar, Suma P.
A1  - Waldek, Stephen
A1  - Wanner, Christoph
A1  - Jovanovic, Ana
T1  - Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study
JF  - Molecular Genetics & Genomic Medicine
N2  - Background
The p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry disease.

Methods
To expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males) enrolled in the Fabry Registry (NCT00196742) and compared it with data from 401 patients (237 females, 164 males) harboring mutations associated with classic Fabry disease. We evaluated interventricular septum thickness (IVST), left ventricular posterior wall thickness (LVPWT), estimated glomerular filtration rate and severe clinical events.

Results
In p.N215S males, mildly abnormal mean IVST and LVPWT values were observed in patients aged 25–34 years, and values gradually increased with advancing age. Mean values were similar to those of classic males. In p.N215S females, these abnormalities occurred primarily in patients aged 55–64 years. Severe clinical events in p.N215S patients were mainly cardiac (males 31%, females 8%) while renal and cerebrovascular events were rare. Renal impairment occurred in 17% of p.N215S males (mostly in patients aged 65–74 years), and rarely in females (3%).

Conclusion
p.N215S is a disease-causing mutation with severe clinical manifestations found primarily in the heart. Cardiac involvement may become as severe as in classic Fabry patients, especially in males.
KW  - cardiac variant
KW  - Fabry disease
KW  - GLA
KW  - p.Asn215Ser
KW  - p.N215S
KW  - phenotype
Y1  - 2018
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-232976
VL  - 6
ER  - 
TY  - JOUR
A1  - Togninalli, Matteo
A1  - Seren, Ümit
A1  - Meng, Dazhe
A1  - Fitz, Joffrey
A1  - Nordborg, Magnus
A1  - Weigel, Detlef
A1  - Borgwardt, Karsten
A1  - Korte, Arthur
A1  - Grimm, Dominik G.
T1  - The AraGWAS Catalog: a curated and standardized Arabidopsis thaliana GWAS catalog
JF  - Nucleic Acids Research
N2  - The abundance of high-quality genotype and phenotype data for the model organism Arabidopsis thaliana enables scientists to study the genetic architecture of many complex traits at an unprecedented level of detail using genome-wide association studies (GWAS). GWAS have been a great success in A. thaliana and many SNP-trait associations have been published. With the AraGWAS Catalog (https://aragwas.1001genomes.org) we provide a publicly available, manually curated and standardized GWAS catalog for all publicly available phenotypes from the central A. thaliana phenotype repository, AraPheno. All GWAS have been recomputed on the latest imputed genotype release of the 1001 Genomes Consortium using a standardized GWAS pipeline to ensure comparability between results. The catalog includes currently 167 phenotypes and more than 222 000 SNP-trait associations with P < 10\(^{-4}\), of which 3887 are significantly associated using permutation-based thresholds. The AraGWAS Catalog can be accessed via a modern web-interface and provides various features to easily access, download and visualize the results and summary statistics across GWAS.
KW  - model organism
KW  - genotype
KW  - phenotype
Y1  - 2018
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-158727
VL  - 46
IS  - D1
ER  -