Literature DB >> 974244

Syndrome of skeletal and genitourinary anomalies with unusual facies and failure to thrive in Hutterite sibs.

P Bowen, G J Conradi.   

Abstract

Entities:  

Mesh：

Year:  1976        PMID： 974244

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  8 in total

Review 1.  When ribosomes go bad: diseases of ribosome biogenesis.

Authors:  Emily F Freed; Franziska Bleichert; Laura M Dutca; Susan J Baserga
Journal:  Mol Biosyst       Date:  2010-01-11

Review 2.  Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders.

Authors:  Paul A Trainor; Amy E Merrill
Journal:  Biochim Biophys Acta       Date:  2013-11-16

3.  Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.

Authors:  Joy Armistead; Sunita Khatkar; Britta Meyer; Brian L Mark; Nehal Patel; Gail Coghlan; Ryan E Lamont; Shuangbo Liu; Jill Wiechert; Peter A Cattini; Peter Koetter; Klaus Wrogemann; Cheryl R Greenberg; Karl-Dieter Entian; Teresa Zelinski; Barbara Triggs-Raine
Journal:  Am J Hum Genet       Date:  2009-05-21       Impact factor: 11.025

Review 4.  Human diseases of the SSU processome.

Authors:  Samuel B Sondalle; Susan J Baserga
Journal:  Biochim Biophys Acta       Date:  2013-11-12

Review 5.  Naturally occurring modified ribonucleosides.

Authors:  Phillip J McCown; Agnieszka Ruszkowska; Charlotte N Kunkler; Kurtis Breger; Jacob P Hulewicz; Matthew C Wang; Noah A Springer; Jessica A Brown
Journal:  Wiley Interdiscip Rev RNA       Date:  2020-04-16       Impact factor: 9.349

6.  Effects of the Bowen-Conradi syndrome mutation in EMG1 on its nuclear import, stability and nucleolar recruitment.

Authors:  Ahmed S Warda; Bernard Freytag; Sara Haag; Katherine E Sloan; Dirk Görlich; Markus T Bohnsack
Journal:  Hum Mol Genet       Date:  2016-12-15       Impact factor: 6.150

Review 7.  How Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies.

Authors:  Giulia Venturi; Lorenzo Montanaro
Journal:  Cells       Date:  2020-10-15       Impact factor: 6.600

8.  Mutation of EMG1 causing Bowen-Conradi syndrome results in reduced cell proliferation rates concomitant with G2/M arrest and 18S rRNA processing delay.

Authors:  Joy Armistead; Richard Hemming; Nehal Patel; Barbara Triggs-Raine
Journal:  BBA Clin       Date:  2014-05-29
  8 in total

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