نتایج جستجو برای: shwachman

تعداد نتایج: 1492  

Journal: :Cell stem cell 2016
Noemi A Zambetti Zhen Ping Si Chen Keane J G Kenswil Maria A Mylona Mathijs A Sanders Remco M Hoogenboezem Eric M J Bindels Maria N Adisty Paulina M H Van Strien Cindy S van der Leije Theresia M Westers Eline M P Cremers Chiara Milanese Pier G Mastroberardino Johannes P T M van Leeuwen Bram C J van der Eerden Ivo P Touw Taco W Kuijpers Roland Kanaar Arjan A van de Loosdrecht Thomas Vogl Marc H G P Raaijmakers

Mesenchymal niche cells may drive tissue failure and malignant transformation in the hematopoietic system, but the underlying molecular mechanisms and relevance to human disease remain poorly defined. Here, we show that perturbation of mesenchymal cells in a mouse model of the pre-leukemic disorder Shwachman-Diamond syndrome (SDS) induces mitochondrial dysfunction, oxidative stress, and activat...

Journal: :Archives of disease in childhood 1975
N I Kjellman Y Larsson

Early insulin response to rapid intravenous injection of glucose was studied in 7 cases of cystic fibrosis aged 8 months to 9 1/2 years. Plasma insulin was measured with a radioimmunological method. Blood glucose values were determined and the glucose disappearance rate (kG) calculated. In all children except the youngest one the early insulin response values were low compared with normal child...

Journal: :Blood 2006
Johnson M Liu Steven R Ellis

Gene products mutated in the inherited bone marrow failure syndromes dyskeratosis congenita (DC), cartilage-hair hypoplasia (CHH), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS) are all predicted to be involved in different aspects of ribosome synthesis. At this moment, however, it is unclear whether this link indicates a causal relationship. Although defective ribosome syn...

2002
So Young Park Min Byoung Chae Yee Gyung Kwack Moon Hee Lee Inho Kim Young Soo Kim Chul Soo Kim

Shwachman-Diamond syndrome (SDS) is a rare genetic disorder of unknown pathogenesis involving exocrine pancreatic insufficiency and hematological and skeletal abnormalities. About 25% of patients develop hematopoietic malignancies. We report on a case of acute myeloid leukemia (M2) in a 21-year-old woman affected by SDS. She was treated with conventional chemotherapy (idarubicin plus cytarabine...

Journal: :Haematologica 2015
Kim De Keersmaecker

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, ...

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