Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome
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منابع مشابه
A novel mouse model provides insights into the neutropenia associated with the ribosomopathy Shwachman-Diamond syndrome
Ribosomopathies are rare diseases caused by mutations in proteins constituting the ribosome (ribosomal proteins) or factors involved in ribosome production (ribosome biogenesis factors). With the exception of 5qsyndrome, which is an acquired disease, most established ribosomopathies are congenital diseases. The most frequent congenital diseases are Diamond-Blackfan anemia (DBA), Shwachman-Diamo...
متن کاملA novel mouse model provides insights into the neutropenia associated with the ribosomopathy Shwachman-Diamond syndrome.
Artistic representation of the interleukin-7 receptor complex in the plasma membrane of a cell. Editorials 1237 A novel mouse model provides insights into the neutropenia associated with the ribosomopathy Shwachman-Diamond syndrome 1240 JAK kinase targeting in hematologic malignancies: a sinuous pathway from identification of genetic alterations towards clinical indications Lorraine Springuel, ...
متن کاملMolecular characterization of a Portuguese patient with Shwachman-Diamond syndrome.
Shwachman-Diamond syndrome (SDS) a rare autosomal recessive disorder described first time 1964 (1), is characterized by the association of exocrine pancreatic and bone marrow dysfunction. Other systemic findings (skeletal, liver and psychomotor) or problems secondary to bone marrow dysfunction may also be detected (1–4). Intermittent or persistent neutropenia is the most common hematologic find...
متن کاملShwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child
Herein the first molecular diagnosis of a Brazilian child with Shwachman-Diamond Syndrome is reported. A 6-year-old boy was diagnosed with cystic fibrosis at the age of 15 months due to recurrent respiratory infections, diarrhea and therapeutic response to pancreatic enzymes. Three sweat tests were negative. At the age of 5 years, he began to experience pain in the lower limbs, laxity of joints...
متن کاملwith ribosomal RNA The human Shwachman - Diamond syndrome
(3094 articles) Hematopoiesis and Stem Cells (1597 articles) Free Research Articles (3667 articles) Clinical Trials and Observations Articles on similar topics can be found in the following Blood collections http://bloodjournal.hematologylibrary.org/site/misc/rights.xhtml#repub_requests Information about reproducing this article in parts or in its entirety may be found online at: http:...
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ژورنال
عنوان ژورنال: Advances in Biological Regulation
سال: 2018
ISSN: 2212-4926
DOI: 10.1016/j.jbior.2017.09.002