-
Ribosomopathies are
diseases caused by
abnormalities in the
structure or
function of
ribosomal component proteins or rRNA genes, or
other genes whose...
- Cartilage–hair
hypoplasia (CHH) is a rare
genetic disorder.
Symptoms may
include short-limbed
dwarfism due to
skeletal dysplasia,
variable level of immunodeficiency...
- in the neocortex.
Biallelic variants in
NEPRO can
cause a very rare
ribosomopathy known as
anauxetic dysplasia type 3,
which is
characterized by severely...
- children, but
BWCNS can
affect other po****tion groups.
BWCNS is a
ribosomopathy. A D86G
mutation of EMG1
destroys an
EcoRV restriction endonuclease...
- PMID 30733326. Farley-Barnes KI,
Ogawa LM,
Baserga SJ (October 2019). "
Ribosomopathies: Old Concepts, New Controversies".
Trends in Genetics. 35 (10). Elsevier...
- 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...
-
Shwachman Diamond Syndrome, and like
these other diseases, FA may also be a
ribosomopathy. In humans,
infertility is one of the
characteristics of individuals...
-
infections can
include pneumococal sepsis and meningitis. ICAS is a
ribosomopathy, due to
autosomal dominant mutation of the RPSA gene on
chromosome 3p21...
- Diamond–Blackfan
anemia (DBA) is a
congenital pure red
blood cell
aplasia that
usually presents in infancy. DBA
causes anemia, but has no
effect on the...
- gene
mutations that give rise to
abnormal ribosome function,
termed ribosomopathy. Specifically, the
disease is
related to one or more
mutations which...
