نتایج جستجو برای: diamond syndrome

تعداد نتایج: 641805  

Journal: :Revista Brasileira de Hematologia e Hemoterapia 2013

2017
Yu Zhou Abdullah Rasmita Ke Li Qihua Xiong Igor Aharonovich Wei-bo Gao

The ability to prepare, optically read out and coherently control single quantum states is a key requirement for quantum information processing. Optically active solid-state emitters have emerged as promising candidates with their prospects for on-chip integration as quantum nodes and sources of coherent photons connecting these nodes. Under a strongly driving resonant laser field, such quantum...

2005
Chris Papageorgiou Marianne Saam

The two-level CES aggregate production function that nests a CES into another CES function has recently been used extensively in theoretical and empirical applications of macroeconomics. This paper examines its theoretical properties and establishes existence and stability conditions of equilibria under the Solow and Diamond growth models. In addition, it examines the effect of changes in subst...

Journal: :International Journal of Scientific Reports 2016

Journal: :Human molecular genetics 2009
Heather L Ball Bing Zhang J Jacob Riches Rikesh Gandhi Jing Li Johanna M Rommens Jeremy S Myers

Shwachman-Diamond syndrome (SDS; OMIM 260400) results from loss-of-function mutations in the Shwachman-Bodian Diamond syndrome (SBDS) gene. It is a multi-system disorder with clinical features of exocrine pancreatic dysfunction, skeletal abnormalities, bone marrow failure and predisposition to leukemic transformation. Although the cellular functions of SBDS are still unclear, its yeast ortholog...

2014
Nack-Gyun Chung Myungshin Kim

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...

Journal: :Human molecular genetics 2010
Seasson Phillips Vitiello Jared W Benedict Sergio Padilla-Lopez David A Pearce

Juvenile Batten disease is an autosomal recessive pediatric neurodegenerative disorder caused by mutations in the CLN3 gene. The CLN3 protein primarily resides in the lysosomal membrane, but its function is unknown. We demonstrate that CLN3 interacts with SBDS, the protein mutated in Shwachman-Bodian-Diamond syndrome patients. We demonstrate that this protein-protein interaction is conserved be...

2016
Kyungmin In Mohamad A Zaini Christine Müller Alan J Warren Marieke von Lindern Cornelis F Calkhoven

Mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene cause Shwachman-Diamond Syndrome (SDS), a rare congenital disease characterized by bone marrow failure with neutropenia, exocrine pancreatic dysfunction and skeletal abnormalities. The SBDS protein is important for ribosome maturation and therefore SDS belongs to the ribosomopathies. It is unknown, however, if loss of SBDS functiona...

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