Literature DB >> 24003648

What fruit flies can tell us about human birth defects.

Dale Dorsett1.   

Abstract

Many times, when a human genetic disease is mapped to mutations in a specific gene, little is known about the biological functions of the affected gene. Development of new therapeutic methods is facilitated by understanding the gene's biological roles. Such information can often be obtained in animal models, such as the fruit fly. Here we describe how understanding a gene's function in fruit flies has illuminated the etiology of Cornelia de Lange syndrome.

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Year:  2013        PMID: 24003648      PMCID: PMC6179892     

Source DB:  PubMed          Journal:  Mo Med        ISSN: 0026-6620


  23 in total

1.  Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes.

Authors:  R A Rollins; P Morcillo; D Dorsett
Journal:  Genetics       Date:  1999-06       Impact factor: 4.562

2.  de Lange syndrome: a clinical review of 310 individuals.

Authors:  L Jackson; A D Kline; M A Barr; S Koch
Journal:  Am J Med Genet       Date:  1993-11-15

3.  Anomalies of the kidney and urinary tract are common in de Lange syndrome.

Authors:  Angelo Selicorni; Cinzia Sforzini; Donatella Milani; Giacomo Cagnoli; Emilio Fossali; Mario G Bianchetti
Journal:  Am J Med Genet A       Date:  2005-02-01       Impact factor: 2.802

4.  Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation.

Authors:  Jan Weichert; Andreas Schröer; Daniel Alexander Beyer; Gabriele Gillessen-Kaesbach; Irina Stefanova
Journal:  J Matern Fetal Neonatal Med       Date:  2011-02-22

5.  Association of cohesin and Nipped-B with transcriptionally active regions of the Drosophila melanogaster genome.

Authors:  Ziva Misulovin; Yuri B Schwartz; Xiao-Yong Li; Tatyana G Kahn; Maria Gause; Stewart MacArthur; Justin C Fay; Michael B Eisen; Vincenzo Pirrotta; Mark D Biggin; Dale Dorsett
Journal:  Chromosoma       Date:  2007-10-27       Impact factor: 4.316

6.  piggyBac-based mosaic screen identifies a postmitotic function for cohesin in regulating developmental axon pruning.

Authors:  Oren Schuldiner; Daniela Berdnik; Jonathan Ma Levy; Joy S Wu; David Luginbuhl; Allison Camille Gontang; Liqun Luo
Journal:  Dev Cell       Date:  2008-02       Impact factor: 12.270

7.  Regulation of the Drosophila Enhancer of split and invected-engrailed gene complexes by sister chromatid cohesion proteins.

Authors:  Cheri A Schaaf; Ziva Misulovin; Gurmukh Sahota; Akbar M Siddiqui; Yuri B Schwartz; Tatyana G Kahn; Vincenzo Pirrotta; Maria Gause; Dale Dorsett
Journal:  PLoS One       Date:  2009-07-09       Impact factor: 3.240

8.  NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.

Authors:  Emma T Tonkin; Tzu-Jou Wang; Steven Lisgo; Michael J Bamshad; Tom Strachan
Journal:  Nat Genet       Date:  2004-05-16       Impact factor: 38.330

9.  HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.

Authors:  Matthew A Deardorff; Masashige Bando; Ryuichiro Nakato; Erwan Watrin; Takehiko Itoh; Masashi Minamino; Katsuya Saitoh; Makiko Komata; Yuki Katou; Dinah Clark; Kathryn E Cole; Elfride De Baere; Christophe Decroos; Nataliya Di Donato; Sarah Ernst; Lauren J Francey; Yolanda Gyftodimou; Kyotaro Hirashima; Melanie Hullings; Yuuichi Ishikawa; Christian Jaulin; Maninder Kaur; Tohru Kiyono; Patrick M Lombardi; Laura Magnaghi-Jaulin; Geert R Mortier; Naohito Nozaki; Michael B Petersen; Hiroyuki Seimiya; Victoria M Siu; Yutaka Suzuki; Kentaro Takagaki; Jonathan J Wilde; Patrick J Willems; Claude Prigent; Gabriele Gillessen-Kaesbach; David W Christianson; Frank J Kaiser; Laird G Jackson; Toru Hirota; Ian D Krantz; Katsuhiko Shirahige
Journal:  Nature       Date:  2012-09-13       Impact factor: 49.962

10.  Genome-wide control of RNA polymerase II activity by cohesin.

Authors:  Cheri A Schaaf; Hojoong Kwak; Amanda Koenig; Ziva Misulovin; David W Gohara; Audrey Watson; Yanjiao Zhou; John T Lis; Dale Dorsett
Journal:  PLoS Genet       Date:  2013-03-21       Impact factor: 5.917

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  1 in total

1.  Generation of corrected hiPSC clones from a Cornelia de Lange Syndrome (CdLS) patient through CRISPR-Cas-based technology.

Authors:  Alessandro Umbach; Giulia Maule; Eyemen Kheir; Alessandro Cutarelli; Marika Foglia; Luca Guarrera; Luca L Fava; Luciano Conti; Enrico Garattini; Mineko Terao; Anna Cereseto
Journal:  Stem Cell Res Ther       Date:  2022-09-02       Impact factor: 8.079

  1 in total

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