User profiles for Alan Medlar
Alan MedlarHIIT Research Fellow, University of Helsinki Verified email at helsinki.fi Cited by 2564 |
[HTML][HTML] Risk HLA-DQA1 and PLA2R1 Alleles in Idiopathic Membranous Nephropathy
HC Stanescu, M Arcos-Burgos, A Medlar… - … England Journal of …, 2011 - Mass Medical Soc
Background Idiopathic membranous nephropathy is a major cause of the nephrotic syndrome
in adults, but its etiologic basis is not fully understood. We investigated the genetic basis of …
in adults, but its etiologic basis is not fully understood. We investigated the genetic basis of …
PANNZER2: a rapid functional annotation web server
The unprecedented growth of high-throughput sequencing has led to an ever-widening
annotation gap in protein databases. While computational prediction methods are available to …
annotation gap in protein databases. While computational prediction methods are available to …
[HTML][HTML] The CAFA challenge reports improved protein function prediction and new functional annotations for hundreds of genes through experimental screens
Background The Critical Assessment of Functional Annotation (CAFA) is an ongoing, global,
community-driven effort to evaluate and improve the computational annotation of protein …
community-driven effort to evaluate and improve the computational annotation of protein …
Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia
Dystonia type 4 (DYT4) was first described in a large family from Heacham in Norfolk with
an autosomal dominantly inherited whispering dysphonia, generalized dystonia, and a …
an autosomal dominantly inherited whispering dysphonia, generalized dystonia, and a …
AAI-profiler: fast proteome-wide exploratory analysis reveals taxonomic identity, misclassification and contamination
We present AAI-profiler, a web server for exploratory analysis and quality control in comparative
genomics. AAI-profiler summarizes proteome-wide sequence search results to identify …
genomics. AAI-profiler summarizes proteome-wide sequence search results to identify …
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1
…, H Jones, E Omoyinmi, KC Gilmour, A Medlar… - Journal of Experimental …, 2017 - rupress.org
The importance of actin dynamics in the activation of the inflammasome is becoming increasingly
apparent. IL-1β, which is activated by the inflammasome, is known to be central to the …
apparent. IL-1β, which is activated by the inflammasome, is known to be central to the …
Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy
…, H Debiec, HC Stanescu, AJ Medlar… - Journal of the …, 2013 - journals.lww.com
The M-type receptor for phospholipase A2 (PLA2R1) is the major target antigen in idiopathic
membranous nephropathy (iMN). Our recent genome-wide association study showed that …
membranous nephropathy (iMN). Our recent genome-wide association study showed that …
[HTML][HTML] Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
…, A Asselin, A Picard, A Coulomb, AJ Medlar… - Nephron …, 2013 - karger.com
Background/Aims: Calcium homeostasis requires regulated cellular and interstitial systems
interacting to modulate the activity and movement of this ion. Disruption of these systems in …
interacting to modulate the activity and movement of this ion. Disruption of these systems in …
Wasabi: an integrated platform for evolutionary sequence analysis and data visualization
A Veidenberg, A Medlar… - Molecular biology and …, 2016 - academic.oup.com
Wasabi is an open source, web-based environment for evolutionary sequence analysis.
Wasabi visualizes sequence data together with a phylogenetic tree within a modern, user-…
Wasabi visualizes sequence data together with a phylogenetic tree within a modern, user-…
Beyond relevance: Adapting exploration/exploitation in information retrieval
K Athukorala, A Medlar, A Oulasvirta… - Proceedings of the 21st …, 2016 - dl.acm.org
We present a novel adaptation technique for search engines to better support information-seeking
activities that include both lookup and exploratory tasks. Building on previous findings…
activities that include both lookup and exploratory tasks. Building on previous findings…