A novel mouse model provides insights into the neutropenia associated with the ribosomopathy Shwachman-Diamond syndrome.
نویسنده
چکیده
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, et al. Articles Hematopoiesis 1267 Therapeutic effect of androgen therapy in a mouse model of aplastic anemia produced by short telomeres Christian Bär, et al. 1285 Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes Noemi A. Zambetti, et al. 1294 Panobinostat as part of induction and maintenance for elderly patients with newly diagnosed acute myeloid leukemia: phase Ib/II panobidara study Enrique M. Ocio, et al. 1301 Targeted sequencing identifies associations between IL7R-JAK mutations and epigenetic modulators in T-cell acute lymphoblastic leukemia Carmen Vicente, et al.
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 کاملNew insights into the Shwachman-Diamond Syndrome-related haematological disorder: hyper-activation of mTOR and STAT3 in leukocytes
Shwachman-Diamond syndrome (SDS) is an inherited disease caused by mutations of a gene encoding for SBDS protein. So far little is known about SBDS exact function. SDS patients present several hematological disorders, including neutropenia and myelodysplastic syndrome (MDS), with increased risk of leukemic evolution. So far, the molecular mechanisms that underlie neutropenia, MDS and AML in SDS...
متن کاملCurrent insights into inherited bone marrow failure syndromes
Inherited bone marrow failure syndrome (IBMFS) encompasses a heterogeneous and complex group of genetic disorders characterized by physical malformations, insufficient blood cell production, and increased risk of malignancies. They often have substantial phenotype overlap, and therefore, genotyping is often a critical means of establishing a diagnosis. Current advances in the field of IBMFSs ha...
متن کاملDeficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes.
Shwachman-Diamond syndrome is a congenital bone marrow failure disorder characterized by debilitating neutropenia. The disease is associated with loss-of-function mutations in the SBDS gene, implicated in ribosome biogenesis, but the cellular and molecular events driving cell specific phenotypes in ribosomopathies remain poorly defined. Here, we established what is to our knowledge the first ma...
متن کاملShwachman-Diamond syndrome neutrophils have altered chemoattractant-induced F-actin polymerization and polarization characteristics.
Shwachman-Diamond syndrome is a hereditary disorder characterized by pancreatic insufficiency and bone marrow failure. Most Shwachman-Diamond syndrome patients have mutations in the SBDS gene located at chromosome 7 and suffer from recurrent infections, due to neutropenia in combination with impaired neutrophil chemotaxis. Currently, the role of the actin cytoskeleton in Shwachman-Diamond syndr...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Haematologica
دوره 100 10 شماره
صفحات -
تاریخ انتشار 2015