Ribosomopathies are diseases caused by abnormalities in the structure or function of ribosomal component proteins or rRNA genes, or other genes whose products are involved in ribosome biogenesis.[1][2][3]
^Cite error: The named reference Nakhou2014 was invoked but never defined (see the help page).
^Cite error: The named reference Narla2010 was invoked but never defined (see the help page).
^Cite error: The named reference DeKeersmaecker2015 was invoked but never defined (see the help page).
Ribosomopathies are diseases caused by abnormalities in the structure or function of ribosomal component proteins or rRNA genes, or other genes whose...
Shwachman Diamond Syndrome, and like these other diseases, FA may also be a ribosomopathy. In humans, infertility is one of the characteristics of individuals...
the UTP4 gene, which codes for cirhin, a nucleolar protein. NAIC is a ribosomopathy. An R565W mutation of UTP4 leads to partial impairment of cirhin interaction...
defective. Mutations in ribosome biogenesis are linked to several human ribosomopathy genetic diseases, including inherited bone marrow failure syndromes...
targeting and translocation machinery is much more complex in eukaryotes. Ribosomopathies are congenital human disorders resulting from defects in ribosomal...
in the neocortex. Biallelic variants in NEPRO can cause a very rare ribosomopathy known as anauxetic dysplasia type 3, which is characterized by severely...
gene mutations that give rise to abnormal ribosome function, termed ribosomopathy. Specifically, the disease is related to one or more mutations which...
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