Literature DB >> 11854316

Transcription factor haploinsufficiency: when half a loaf is not enough.

J G Seidman1, Christine Seidman.   

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Year:  2002        PMID: 11854316      PMCID: PMC150881          DOI: 10.1172/JCI15043

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


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  11 in total

1.  TRANSFAC: an integrated system for gene expression regulation.

Authors:  E Wingender; X Chen; R Hehl; H Karas; I Liebich; V Matys; T Meinhardt; M Prüss; I Reuter; F Schacherer
Journal:  Nucleic Acids Res       Date:  2000-01-01       Impact factor: 16.971

Review 2.  Killing the messenger: new insights into nonsense-mediated mRNA decay.

Authors:  Peter H Byers
Journal:  J Clin Invest       Date:  2002-01       Impact factor: 14.808

Review 3.  The mammalian Jun proteins: redundancy and specificity.

Authors:  F Mechta-Grigoriou; D Gerald; M Yaniv
Journal:  Oncogene       Date:  2001-04-30       Impact factor: 9.867

4.  Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation.

Authors:  Y Hiroi; S Kudoh; K Monzen; Y Ikeda; Y Yazaki; R Nagai; I Komuro
Journal:  Nat Genet       Date:  2001-07       Impact factor: 38.330

5.  Paralogous mouse Hox genes, Hoxa9, Hoxb9, and Hoxd9, function together to control development of the mammary gland in response to pregnancy.

Authors:  F Chen; M R Capecchi
Journal:  Proc Natl Acad Sci U S A       Date:  1999-01-19       Impact factor: 11.205

6.  A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease.

Authors:  B G Bruneau; G Nemer; J P Schmitt; F Charron; L Robitaille; S Caron; D A Conner; M Gessler; M Nemer; C E Seidman; J G Seidman
Journal:  Cell       Date:  2001-09-21       Impact factor: 41.582

7.  Targeted ablation of the murine alpha-tropomyosin gene.

Authors:  E M Blanchard; K Iizuka; M Christe; D A Conner; A Geisterfer-Lowrance; F J Schoen; D W Maughan; C E Seidman; J G Seidman
Journal:  Circ Res       Date:  1997-12       Impact factor: 17.367

8.  Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.

Authors:  Heiko Krude; Barbara Schütz; Heike Biebermann; Arpad von Moers; Dirk Schnabel; Heidi Neitzel; Holger Tönnies; Dagmar Weise; Antony Lafferty; Siegfried Schwarz; Mario DeFelice; Andreas von Deimling; Frank van Landeghem; Roberto DiLauro; Annette Grüters
Journal:  J Clin Invest       Date:  2002-02       Impact factor: 14.808

9.  Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.

Authors:  Joachim Pohlenz; Alexandra Dumitrescu; Dorothee Zundel; Ursula Martiné; Winfried Schönberger; Eugene Koo; Roy E Weiss; Ronald N Cohen; Shioko Kimura; Samuel Refetoff
Journal:  J Clin Invest       Date:  2002-02       Impact factor: 14.808

10.  The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary.

Authors:  S Kimura; Y Hara; T Pineau; P Fernandez-Salguero; C H Fox; J M Ward; F J Gonzalez
Journal:  Genes Dev       Date:  1996-01-01       Impact factor: 11.361

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  75 in total

1.  A rheostat model for a rapid and reversible form of imprinting-dependent evolution.

Authors:  Arthur L Beaudet; Yong-Hui Jiang
Journal:  Am J Hum Genet       Date:  2002-04-24       Impact factor: 11.025

2.  Associations between human disease genes and overlapping gene groups and multiple amino acid runs.

Authors:  Samuel Karlin; Chingfer Chen; Andrew J Gentles; Michael Cleary
Journal:  Proc Natl Acad Sci U S A       Date:  2002-12-09       Impact factor: 11.205

Review 3.  GATA2 deficiency.

Authors:  Amy P Hsu; Lisa J McReynolds; Steven M Holland
Journal:  Curr Opin Allergy Clin Immunol       Date:  2015-02

4.  Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans.

Authors:  Vivian S Lee; Carmen M Halabi; Erin P Hoffman; Nikkola Carmichael; Ignaty Leshchiner; Christine G Lian; Andrew J Bierhals; Dana Vuzman; Robert P Mecham; Natasha Y Frank; Nathan O Stitziel
Journal:  Proc Natl Acad Sci U S A       Date:  2016-07-18       Impact factor: 11.205

5.  Mechanisms of haploinsufficiency revealed by genome-wide profiling in yeast.

Authors:  Adam M Deutschbauer; Daniel F Jaramillo; Michael Proctor; Jochen Kumm; Maureen E Hillenmeyer; Ronald W Davis; Corey Nislow; Guri Giaever
Journal:  Genetics       Date:  2005-02-16       Impact factor: 4.562

6.  Genome Editing in hPSCs Reveals GATA6 Haploinsufficiency and a Genetic Interaction with GATA4 in Human Pancreatic Development.

Authors:  Zhong-Dong Shi; Kihyun Lee; Dapeng Yang; Sadaf Amin; Nipun Verma; Qing V Li; Zengrong Zhu; Chew-Li Soh; Ritu Kumar; Todd Evans; Shuibing Chen; Danwei Huangfu
Journal:  Cell Stem Cell       Date:  2017-02-09       Impact factor: 24.633

7.  Misexpression of Six2 is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1 Br mice.

Authors:  Ben Fogelgren; Mari C Kuroyama; Brandeis McBratney-Owen; Allyson A Spence; Laura E Malahn; Mireille K Anawati; Chantelle Cabatbat; Vernadeth B Alarcon; Yusuke Marikawa; Scott Lozanoff
Journal:  Dev Dyn       Date:  2008-07       Impact factor: 3.780

8.  From ENU mutagenesis to population genetics.

Authors:  N Avrion Mitchison; Bryan Clarke
Journal:  Mamm Genome       Date:  2008-03-26       Impact factor: 2.957

9.  A general lack of compensation for gene dosage in yeast.

Authors:  Michael Springer; Jonathan S Weissman; Marc W Kirschner
Journal:  Mol Syst Biol       Date:  2010-05-11       Impact factor: 11.429

10.  Expression variation: its relevance to emergence of chronic disease and to therapy.

Authors:  Anatoly L Mayburd
Journal:  PLoS One       Date:  2009-06-15       Impact factor: 3.240

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