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, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in

author

Samuel B Sondalle

Gerald Griffin

Saurabh S Kulkarni

Engin Deniz

Mustafa K Khokha

Susan Baserga

published in: Development

date of publication: 2018-10-18

language: English

main subject: molecular biology, isolated congenital asplenia

Cites articles 86

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Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Bertrand Boisson, Tracy Briggs, Cheng-Lung Ku, Malgorzata Pac, Capucine Picard, Jean-Laurent Casanova, Andrew Pollard, Malik Chaker-Margot, Ferah Genel
2018-01-24

Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders

Margot Bowen, Tomasz Świgut
2017-11-08

Specialized ribosomes and specific ribosomal protein paralogs control translation of mitochondrial proteins

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2017-07-31

Rps26 directs mRNA-specific translation by recognition of Kozak sequence elements

Max Ferretti, Homa Ghalei, Katrin Karbstein
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Heterogeneous Ribosomes Preferentially Translate Distinct Subpools of mRNAs Genome-wide.

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Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation

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Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography

Engin Deniz
2016-10-26

Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis

John N Griffin, Susan Baserga
2016-01-06

Measuring Absolute RNA Copy Numbers at High Temporal Resolution Reveals Transcriptome Kinetics in Development

Michael J Gilchrist
2016-01-04

Pathways to Specialized Ribosomes: The Brussels Lecture

Jonathan D. Dinman
2015-10-05

Translating the genome in time and space: specialized ribosomes, RNA regulons, and RNA-binding proteins
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Ribosomopathies: how a common root can cause a tree of pathologies
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Structure of the human 80S ribosome
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The ribosome biogenesis factor Nol11 is required for optimal rDNA transcription and craniofacial development in Xenopus

John N Griffin, Samuel B Sondalle, Susan Baserga
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Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.

Kenichi Yoshida, Yusuke Okuno, Satoru Miyano
2014-09-01

Non-cardiac issues in patients with heterotaxy syndrome
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Dimitri G Pestov
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Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis

Jason E Farrar, Adrianna Vlachos
2014-05-14

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

Meredith Yeager, Sharon A. Savage, Leonard I. Zon
2014-04-15

Defects in laterality with emphasis on heterotaxy syndromes with asplenia and polysplenia: an autopsy case series at a single institution

Lisa Rooper
2014-03-19

Diverse diseases from a ubiquitous process: the ribosomopathy paradox

Barbara Triggs-Raine
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Tissue specific roles for the ribosome biogenesis factor Wdr43 in zebrafish development

Kathleen L. McCann, Leonard I. Zon, Susan Baserga
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RPL39L is an example of a recently evolved ribosomal protein paralog that shows highly specific tissue expression patterns and is upregulated in ESCs and HCC tumors

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Human diseases of the SSU processome

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Ribosome biogenesis in the yeast Saccharomyces cerevisiae

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Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

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Article - wd:Q58595029

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