Splice‐site variant in the <scp> <i>RPS7</i> </scp> 5′‐ <scp>UTR</scp> leads to a decrease in the <scp>mRNA</scp> level and development of <scp>Diamond‐Blackfan</scp> anemia-Reference-Cited by-同舟云学术

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Splice‐site variant in the RPS7 5′‐ UTR leads to a decrease in the mRNA level and development of Diamond‐Blackfan anemia

Published:2022-09-12 Issue:1 Volume:103 Page:93-96
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Skorodumova Liubov O.¹²,Davydenko Ksenia A.³,Filatova Alexandra Y.³^ORCID,Skoblov Mikhail Yu³,Kulemin Nikolay A.²,Khadzhieva Maryam B.¹⁴,Zakharova Elena S.¹,Gordeeva Veronika D.²,Smetanina Nataliya S.¹,Fedyushkina Irina V.²,Anastasevich Lyudmila A.¹,Larin Sergey S.¹

Affiliation:

1. Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology Moscow Russian Federation

2. Federal Research and Clinical Center of Physical‐Chemical Medicine of Federal Medical Biological Agency Moscow Russian Federation

3. Research Centre for Medical Genetics Moscow Russian Federation

4. Federal Research and Clinical Center of Intensive Care Medicine and Rehabilitology Moscow Russian Federation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14221

Reference14 articles.

1. An update on the pathogenesis and diagnosis of Diamond–Blackfan anemia

2. Loss of function mutations inRPL27andRPS27identified by whole-exome sequencing in Diamond-Blackfan anaemia

3. Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation

4. The Genetic Landscape of Diamond-Blackfan Anemia

5. 5′UTR Variants of Ribosomal Protein S19 Transcript Determine Translational Efficiency: Implications for Diamond-Blackfan Anemia and Tissue Variability

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?;Blood Cells, Molecules, and Diseases;2024-05

2. RNA-binding protein RPS7 promotes hepatocellular carcinoma progression via LOXL2-dependent activation of ITGB1/FAK/SRC signaling;Journal of Experimental & Clinical Cancer Research;2024-02-08

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