Literature DB >> 17961241

Deafness mutation mining using regular expression based pattern matching.

Christopher M Frenz1.   

Abstract

BACKGROUND: While keyword based queries of databases such as Pubmed are frequently of great utility, the ability to use regular expressions in place of a keyword can often improve the results output by such databases. Regular expressions can allow for the identification of element types that cannot be readily specified by a single keyword and can allow for different words with similar character sequences to be distinguished.
RESULTS: A Perl based utility was developed to allow the use of regular expressions in Pubmed searches, thereby improving the accuracy of the searches.
CONCLUSION: This utility was then utilized to create a comprehensive listing of all DFN deafness mutations discussed in Pubmed records containing the keywords "human ear".

Entities:  

Mesh:

Year:  2007        PMID: 17961241      PMCID: PMC2180167          DOI: 10.1186/1472-6947-7-32

Source DB:  PubMed          Journal:  BMC Med Inform Decis Mak        ISSN: 1472-6947            Impact factor:   2.796


  44 in total

1.  Automated extraction of mutation data from the literature: application of MuteXt to G protein-coupled receptors and nuclear hormone receptors.

Authors:  Florence Horn; Anthony L Lau; Fred E Cohen
Journal:  Bioinformatics       Date:  2004-01-22       Impact factor: 6.937

2.  Mice with altered KCNQ4 K+ channels implicate sensory outer hair cells in human progressive deafness.

Authors:  Tatjana Kharkovets; Karin Dedek; Hannes Maier; Michaela Schweizer; Darina Khimich; Régis Nouvian; Vitya Vardanyan; Rudolf Leuwer; Tobias Moser; Thomas J Jentsch
Journal:  EMBO J       Date:  2006-01-26       Impact factor: 11.598

3.  Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment.

Authors:  M Palmada; K Schmalisch; C Böhmer; N Schug; M Pfister; F Lang; N Blin
Journal:  Neurobiol Dis       Date:  2005-11-21       Impact factor: 5.996

4.  Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.

Authors:  Hashem Shahin; Tom Walsh; Tama Sobe; Judeh Abu Sa'ed; Amal Abu Rayan; Eric D Lynch; Ming K Lee; Karen B Avraham; Mary-Claire King; Moein Kanaan
Journal:  Am J Hum Genet       Date:  2005-11-21       Impact factor: 11.025

5.  Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells.

Authors:  Lut Van Laer; Markus Pfister; Sofie Thys; Karen Vrijens; Marcus Mueller; Lieve Umans; Lutgarde Serneels; Luc Van Nassauw; Frank Kooy; Richard J H Smith; Jean-Pierre Timmermans; Fred Van Leuven; Guy Van Camp
Journal:  Neurobiol Dis       Date:  2005-08       Impact factor: 5.996

6.  Transgene correction maintains normal cochlear structure and function in 6-month-old Myo15a mutant mice.

Authors:  Sho Kanzaki; Lisa Beyer; I Jill Karolyi; David F Dolan; Qing Fang; Frank J Probst; Sally A Camper; Yehoash Raphael
Journal:  Hear Res       Date:  2006-04-03       Impact factor: 3.208

7.  Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.

Authors:  Nahid G Robertson; Cor W R J Cremers; Patrick L M Huygen; Tetsuo Ikezono; Bryan Krastins; Hannie Kremer; Sharon F Kuo; M Charles Liberman; Saumil N Merchant; Constance E Miller; Joseph B Nadol; David A Sarracino; Wim I M Verhagen; Cynthia C Morton
Journal:  Hum Mol Genet       Date:  2006-02-15       Impact factor: 6.150

Review 8.  Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum.

Authors:  Richard K McHugh; Rick A Friedman
Journal:  Anat Rec A Discov Mol Cell Evol Biol       Date:  2006-04

9.  Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11).

Authors:  Hanno Bolz; Steffen-Sebastian Bolz; Götz Schade; Christian Kothe; Gerrit Mohrmann; Markus Hess; Andreas Gal
Journal:  Hum Mutat       Date:  2004-09       Impact factor: 4.878

10.  Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).

Authors:  Francesca Donaudy; Rik Snoeckx; Markus Pfister; Hans-Peter Zenner; Nikolaus Blin; Mariateresa Di Stazio; Antonella Ferrara; Carmen Lanzara; Romina Ficarella; Frank Declau; Carsten M Pusch; Peter Nürnberg; Salvatore Melchionda; Leopoldo Zelante; Ester Ballana; Xavier Estivill; Guy Van Camp; Paolo Gasparini; Anna Savoia
Journal:  Am J Hum Genet       Date:  2004-03-10       Impact factor: 11.025

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  3 in total

1.  Learning regular expressions for clinical text classification.

Authors:  Duy Duc An Bui; Qing Zeng-Treitler
Journal:  J Am Med Inform Assoc       Date:  2014-02-27       Impact factor: 4.497

2.  A Software Application for Mining and Presenting Relevant Cancer Clinical Trials per Cancer Mutation.

Authors:  Lisa M Gandy; Jordan Gumm; Amanda L Blackford; Elana J Fertig; Luis A Diaz
Journal:  Cancer Inform       Date:  2017-06-22

3.  A Data-Driven Iterative Approach for Semi-automatically Assessing the Correctness of Medication Value Sets: A Proof of Concept Based on Opioids.

Authors:  Linyi Li; Adela Grando; Abeed Sarker
Journal:  Methods Inf Med       Date:  2021-12-29       Impact factor: 2.176

  3 in total

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