Literature DB >> 25316782

Understanding rare disease pathogenesis: a grand challenge for model organisms.

Philip Hieter1, Kym M Boycott2.   

Abstract

In this commentary, Philip Hieter and Kym Boycott discuss the importance of model organisms for understanding pathogenesis of rare human genetic diseases, and highlight the work of Brooks et al., "Dysfunction of 60S ribosomal protein L10 (RPL10) disrupts neurodevelopment and causes X-linked microcephaly in humans," published in this issue of GENETICS.
Copyright © 2014 by the Genetics Society of America.

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Year:  2014        PMID： 25316782      PMCID： PMC4196600          DOI： 10.1534/genetics.114.170217

Source DB:  PubMed          Journal:  Genetics        ISSN： 0016-6731            Impact factor:   4.562


  14 in total

1.  2011 Curt Stern Award address.

Authors:  David Altshuler
Journal:  Am J Hum Genet       Date:  2012-03-09       Impact factor: 11.025

2.  Systematic discovery of nonobvious human disease models through orthologous phenotypes.

Authors:  Kriston L McGary; Tae Joo Park; John O Woods; Hye Ji Cha; John B Wallingford; Edward M Marcotte
Journal:  Proc Natl Acad Sci U S A       Date:  2010-03-22       Impact factor: 11.205

Review 3.  The human genome project: past, present, and future.

Authors:  J D Watson
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4.  A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.

Authors:  Susan S Brooks; Alissa L Wall; Christelle Golzio; David W Reid; Amalia Kondyles; Jason R Willer; Christina Botti; Christopher V Nicchitta; Nicholas Katsanis; Erica E Davis
Journal:  Genetics       Date:  2014-10       Impact factor: 4.562

5.  Genetic disorders in children and young adults: a population study.

Authors:  P A Baird; T W Anderson; H B Newcombe; R B Lowry
Journal:  Am J Hum Genet       Date:  1988-05       Impact factor: 11.025

6.  FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.

Authors:  Chandree L Beaulieu; Jacek Majewski; Jeremy Schwartzentruber; Mark E Samuels; Bridget A Fernandez; Francois P Bernier; Michael Brudno; Bartha Knoppers; Janet Marcadier; David Dyment; Shelin Adam; Dennis E Bulman; Steve J M Jones; Denise Avard; Minh Thu Nguyen; Francois Rousseau; Christian Marshall; Richard F Wintle; Yaoqing Shen; Stephen W Scherer; Jan M Friedman; Jacques L Michaud; Kym M Boycott
Journal:  Am J Hum Genet       Date:  2014-06-05       Impact factor: 11.025

Review 7.  CRISPR-Cas systems for editing, regulating and targeting genomes.

Authors:  Jeffry D Sander; J Keith Joung
Journal:  Nat Biotechnol       Date:  2014-03-02       Impact factor: 54.908

8.  New roles for model genetic organisms in understanding and treating human disease: report from the 2006 Genetics Society of America meeting.

Authors:  Allan Spradling; Barry Ganetsky; Phil Hieter; Mark Johnston; Maynard Olson; Terry Orr-Weaver; Janet Rossant; Alejandro Sanchez; Robert Waterston
Journal:  Genetics       Date:  2006-04       Impact factor: 4.562

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Authors:  David Botstein
Journal:  Mol Biol Cell       Date:  2012-11       Impact factor: 4.138

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Journal:  Genetics       Date:  2015-09-09       Impact factor: 4.562

Review 2.  Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.

Authors:  Michael F Wangler; Shinya Yamamoto; Hsiao-Tuan Chao; Jennifer E Posey; Monte Westerfield; John Postlethwait; Philip Hieter; Kym M Boycott; Philippe M Campeau; Hugo J Bellen
Journal:  Genetics       Date:  2017-09       Impact factor: 4.562

3.  Phosphorylation of the 19S regulatory particle ATPase subunit, Rpt6, modifies susceptibility to proteotoxic stress and protein aggregation.

Authors:  Esther Magdalena Marquez-Lona; Ana Lilia Torres-Machorro; Frankie R Gonzales; Lorraine Pillus; Gentry N Patrick
Journal:  PLoS One       Date:  2017-06-29       Impact factor: 3.240

4.  ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Authors:  Mustafa S Pir; Halil I Bilgin; Ahmet Sayici; Fatih Coşkun; Furkan M Torun; Pei Zhao; Yahong Kang; Sebiha Cevik; Oktay I Kaplan
Journal:  Nucleic Acids Res       Date:  2022-01-07       Impact factor: 16.971
  4 in total

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