Literature DB >> 11256068

Modifier genes in mice and humans.

J H Nadeau1.   

Abstract

An emerging theme of studies with spontaneous, engineered and induced mutant mice is that phenotypes often depend on genetic background, implying that genetic modifiers have a role in guiding the functional consequences of genetic variation. Understanding the molecular and cellular basis by which modifier genes exert their influence will provide insights into developmental and physiological pathways that are critical to fundamental biological processes, as well as into novel targets for therapeutic interventions in human diseases.

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Year:  2001        PMID: 11256068     DOI: 10.1038/35056009

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


  190 in total

Review 1.  Tissue-specific targeting of the insulin receptor gene.

Authors:  Rohit N Kulkarni; Terumasa Okada
Journal:  Endocrine       Date:  2002-12       Impact factor: 3.633

2.  Early interleukin 6 production by leukocytes during ischemic acute kidney injury is regulated by TLR4.

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Review 3.  Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.

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Journal:  Am J Hum Genet       Date:  2002-10-22       Impact factor: 11.025

4.  Sox3 is required for gonadal function, but not sex determination, in males and females.

Authors:  Jeffrey Weiss; Joshua J Meeks; Lisa Hurley; Gerald Raverot; Andrea Frassetto; J Larry Jameson
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Review 5.  Cilia in vertebrate development and disease.

Authors:  Edwin C Oh; Nicholas Katsanis
Journal:  Development       Date:  2012-02       Impact factor: 6.868

6.  Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy.

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7.  Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle.

Authors:  Diti Ronvelia; Jaclyn Greenwood; Julia Platt; Simin Hakim; Michael V Zaragoza
Journal:  Mol Genet Metab       Date:  2012-09-18       Impact factor: 4.797

Review 8.  Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.

Authors:  P de Bie; P Muller; C Wijmenga; L W J Klomp
Journal:  J Med Genet       Date:  2007-08-23       Impact factor: 6.318

9.  Epistatic interaction between variations in the angiotensin I converting enzyme and angiotensin II type 1 receptor genes in relation to extent of coronary atherosclerosis.

Authors:  S Ye; S Dhillon; R Seear; L Dunleavey; L B Day; W Bannister; I N M Day; I Simpson
Journal:  Heart       Date:  2003-10       Impact factor: 5.994

10.  Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential.

Authors:  Peter Bross; Zhijie Li; Jakob Hansen; Jens Jacob Hansen; Marit Nyholm Nielsen; Thomas Juhl Corydon; Costa Georgopoulos; Debbie Ang; Jytte Banner Lundemose; Klary Niezen-Koning; Hans Eiberg; Huanming Yang; Steen Kølvraa; Lars Bolund; Niels Gregersen
Journal:  J Hum Genet       Date:  2006-10-27       Impact factor: 3.172

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