Literature DB >> 16534515

Mendelian disorders deserve more attention.

Stylianos E Antonarakis1, Jacques S Beckmann.   

Abstract

The study of inherited monogenic diseases has contributed greatly to our mechanistic understanding of pathogenic mutations and gene regulation, and to the development of effective diagnostic tools. But interest has gradually shifted away from monogenic diseases, which collectively affect only a small fraction of the world's population, towards multifactorial, common diseases. The quest for the genetic variability associated with common traits should not be done at the expense of Mendelian disorders, because the latter could still contribute greatly to understanding the aetiology of complex traits.

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Year:  2006        PMID: 16534515     DOI: 10.1038/nrg1826

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


  84 in total

1.  Modifier genetics in neuropsychiatric disease: challenges and opportunities.

Authors:  Elizabeth K Ruzzo; Andrea L Pappas; David B Goldstein
Journal:  Genome Biol       Date:  2012       Impact factor: 13.583

Review 2.  Massively parallel sequencing and rare disease.

Authors:  Sarah B Ng; Deborah A Nickerson; Michael J Bamshad; Jay Shendure
Journal:  Hum Mol Genet       Date:  2010-09-15       Impact factor: 6.150

3.  Pancreatic function in carboxyl-ester lipase knockout mice.

Authors:  Mette Vesterhus; Helge Raeder; Amarnath J Kurpad; Dan Kawamori; Anders Molven; Rohit N Kulkarni; C Ronald Kahn; Pål Rasmus Njølstad
Journal:  Pancreatology       Date:  2010-08-19       Impact factor: 3.996

4.  The Hidden Complexity of Mendelian Traits across Natural Yeast Populations.

Authors:  Jing Hou; Anastasie Sigwalt; Téo Fournier; David Pflieger; Jackson Peter; Jacky de Montigny; Maitreya J Dunham; Joseph Schacherer
Journal:  Cell Rep       Date:  2016-07-07       Impact factor: 9.423

Review 5.  Human genetics of infectious diseases: a unified theory.

Authors:  Jean-Laurent Casanova; Laurent Abel
Journal:  EMBO J       Date:  2007-01-25       Impact factor: 11.598

Review 6.  The current state of clinical interpretation of sequence variants.

Authors:  Derick C Hoskinson; Adrian M Dubuc; Heather Mason-Suares
Journal:  Curr Opin Genet Dev       Date:  2017-01-31       Impact factor: 5.578

Review 7.  Identifying modifier genes of monogenic disease: strategies and difficulties.

Authors:  Emmanuelle Génin; Josué Feingold; Françoise Clerget-Darpoux
Journal:  Hum Genet       Date:  2008-09-11       Impact factor: 4.132

8.  Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.

Authors:  Periklis Makrythanasis; Philipp Kapranov; Lucia Bartoloni; Alexandre Reymond; Samuel Deutsch; Roderic Guigó; France Denoeud; Jorg Drenkow; Colette Rossier; Francesca Ariani; Valeria Capra; Laurent Excoffier; Alessandra Renieri; Thomas R Gingeras; Stylianos E Antonarakis
Journal:  Hum Mutat       Date:  2009-09       Impact factor: 4.878

Review 9.  Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008.

Authors:  Charles R Scriver
Journal:  J Inherit Metab Dis       Date:  2008-10-12       Impact factor: 4.982

10.  A Markov blanket-based method for detecting causal SNPs in GWAS.

Authors:  Bing Han; Meeyoung Park; Xue-wen Chen
Journal:  BMC Bioinformatics       Date:  2010-04-29       Impact factor: 3.169

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