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The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

13-Aug-2015 | Anthony A. Philippakis, Danielle R. Azzariti, Sergi Beltran, Anthony J. Brookes, Catherine A. Brownstein, Michael Br ..., Human Mutation, 2015

ABSTRACT There are few better examples of the need for data sharing than in the rare disease community, where patients, physicians, and researchers must search for “the needle in a haystack” to uncover rare, novel causes of disease within the genome. Impeding the pace of discovery has been the ...


Impact of proteinuria and glomerular filtration rate on risk of ischaemic and intracerebral hemorrhagic stroke: a result from the Kailuan study

25-Oct-2014 | Z. Li, A. Wang, J. Cai, X. Gao, Y. Zhou, Y. Luo, S. Wu, X. Zhao, European Journal of Neurology, 2014

Background and purpose Persons with chronic kidney disease, defined by a reduced estimated glomerular filtration rate and proteinuria, have an increased risk of cardiovascular disease including stroke. However, data from developing countries are limited. Our aim was to assess the relationship ...


A universal open-source Electronic Laboratory Notebook

01-Jul-2013 | Catherine Voegele; Baptiste Bouchereau; Nivonirina Robinot; James McKay; Philippe Damiecki; Lucile Alteyrac, Bioinformatics, 2013

Motivation: Laboratory notebooks remain crucial to the activities of research communities. With the increase in generation of electronic data within both wet and dry analytical laboratories and new technologies providing more efficient means of communication, Electronic Laboratory Notebooks (ELN) ...


Automated glycopeptide analysis—review of current state and future directions

01-May-2013 | David C. Dallas; William F. Martin; Serenus Hua; J. Bruce German, Briefings in Bioinformatics, 2013

Glycosylation of proteins is involved in immune defense, cell–cell adhesion, cellular recognition and pathogen binding and is one of the most common and complex post-translational modifications. Science is still struggling to assign detailed mechanisms and functions to this form of conjugation. ...


The TP53 website: an integrative resource centre for the TP53 mutation database and TP53 mutant analysis

01-Jan-2013 | Bernard Leroy; Jean Louis Fournier; Chikashi Ishioka; Paola Monti; Alberto Inga; Gilberto Fronza; Thierry Soussi, Nucleic Acids Research, 2013

A novel resource centre for TP53 mutations and mutants has been developed ( TP53 gene dysfunction can be found in the majority of human cancer types. The potential use of TP53 mutation as a biomarker for clinical studies or exposome analysis has led to the publication of thousands ...


An unusual feature associated with LEE1 P1 promoters in enteropathogenic Escherichia coli (EPEC)

10-Jan-2012 | Jeong, Jae‐Ho; Kim, Hyun‐Ju; Kim, Kun‐Hee; Shin, Minsang; Hong, Yeongjin; Rhee, Joon Haeng; Sch ..., Molecular Microbiology, 2012

Summary Transcription start points in bacteria are influenced by the nature of the RNA polymerase·promoter interaction. For Escherichia coli RNA polymerase holoenzyme containing σ70, it is presumed that specific sequence in one or more of the −10, extended −10 and −35 elements of the promoter ...


Correlation analysis of p53 protein isoforms with NPM1|[sol]|FLT3 mutations and therapy response in acute myeloid leukemia

22-Aug-2011 | N |[Aring]|nensen, S M Hjelle, W Van Belle, I Haaland, E Silden, J-C Bourdon, R Hovland, K Task|[eacute]|n, S Knapps ..., Oncogene, 2011

Correlation analysis of p53 protein isoforms with NPM1/FLT3 mutations and therapy response in acute myeloid leukemia Oncogene advance online publication, August 22, 2011. doi:10.1038/onc.2011.348 Authors: N Ånensen, S M Hjelle, W Van Belle, I Haaland, E Silden, J-C Bourdon, R Hovland, K ...


A sheet‐type device for home‐monitoring sleep apneas in children

01-Apr-2011 | ARIMOTO, Mariko; SHIOMI, Toshiaki; SASANABE, Ryujiro; INAGAWA, Shuntaro; UEDA, Hiromi; INAFUKU, Shigeru, Sleep and Biological Rhythms, 2011

Abstract There are some simplified devices for screening SAS. However, they have some problems as to a way to operate and disconnection of oro‐nasal sensors in children. The simplified device that had used the multipoint pressure sensor seat (SD‐101) recently was developed in Japan. For adults, ...


Alterations in the p53 Pathway and p16INK4a Expression Predict Overall Survival in Metastatic Melanoma Patients Treated with Dacarbazine

27-May-2010 | Christian Busch, J|[uuml]|rgen Geisler, Stian Knappskog, Johan R Lillehaug, Per E L|[oslash]|nning, Journal of Investigative Dermatology, 2010

Alterations in the p53 Pathway and p16INK4a Expression Predict Overall Survival in Metastatic Melanoma Patients Treated with Dacarbazine Journal of Investigative Dermatology 130, 2514 (October 2010). doi:10.1038/jid.2010.138 Authors: Christian Busch, Jürgen Geisler, Stian ...


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