نتایج جستجو برای: mpss point

تعداد نتایج: 524861  

2014
Mohsen Ziyaeifard Rasoul Azarfarin Rasoul Ferasatkish Majid Dashti

INTRODUCTION Mucopolysaccharidoses (MPSs) are a group of heredity storage diseases, transmitted in an autosomal recessive manner, associated with the accumulation of glycosaminoglycans (GAGs) in various tissues and organs. The concerned patients have multiple concomitant hereditary anomalies. Considering the craniofacial abnormality in these patients, airway management may be difficult for anes...

Journal: :Genome research 2004
Blake C Meyers Shivakundan Singh Tej Tam H Vu Christian D Haudenschild Vikas Agrawal Steve B Edberg Hassan Ghazal Shannon Decola

We have generated 36,991,173 17-base sequence "signatures" representing transcripts from the model plant Arabidopsis. These data were derived by massively parallel signature sequencing (MPSS) from 14 libraries and comprised 268,132 distinct sequences. Comparable data were also obtained with 20-base signatures. We developed a method for handling these data and for comparing these signatures to t...

2015
Oana Mărginean Lorena Elena Melit Oana Marginean Carmen Duicu Cristina Campean Maria Oana Marginean

Mucopolysaccharidoses (MPSs) are a group of rare genetic disorders within the larger family of lysosomal diseases. MPSs disorders are caused by a defi ciency in the activity of a specifi c lysosomal enzyme required for the degradation of glycosaminoglycans (GAGs). MPS type II, also called Hunter syndrome consists in a defi ciency of an enzyme, iduronate-2-sulphatase. We present a rare case of H...

Journal: : 2022

Introduction. Mucopolysaccharidoses (MPSs) represent a group of rare lysosomal storage diseases, associated with the decline in life expectancy and impairing it’s quality. Despite prolonged evaluation effectiveness pathogenic therapy, patient-reported outcomes are poorly defined. The aim study. To describe impact enzyme-replacement therapy (ERT) on quality MPS children, using parent-completed v...

The indicators used in economics to calculate the productivity scale are not always positive, therefore, existing models need to be developed to calculate the productivity scale for the semi-negative and semi-positive output index. However, companies with a lack of capacity need to achieve economies of scale and demand for realization simultaneously in the presence of a negative outflow index, ...

2014
R. C. Venu Jianbing Ma Yulin Jia Guangjie Liu Melissa H. Jia Kan Nobuta M. V. Sreerekha Karen Moldenhauer Anna M. McClung Blake C. Meyers Guo-Liang Wang

To identify the genes responsible for yield related traits, and heterosis, massively parallel signature sequencing (MPSS) libraries were constructed from leaves, roots and meristem tissues from the two parents, 'Nipponbare' and '93-11', and their F1 hybrid. From the MPSS libraries, 1-3 million signatures were obtained. Using cluster analysis, commonly and specifically expressed genes in the par...

Journal: :Journal of the American Statistical Association 2010
Soma S Dhavala Sujay Datta Bani K Mallick Raymond J Carroll Sangeeta Khare Sara D Lawhon L Garry Adams

Massively Parallel Signature Sequencing (MPSS) is a high-throughput counting-based technology available for gene expression profiling. It produces output that is similar to Serial Analysis of Gene Expression (SAGE) and is ideal for building complex relational databases for gene expression. Our goal is to compare the in vivo global gene expression profiles of tissues infected with different stra...

2016
Özlen Bektaş Ayşegül Üner Eylem Eliaçık Burak Uz Ayşe Işık Sezgin Etgül Süreyya Bozkurt İbrahim Celalettin Haznedaroğlu Hakan Göker Nilgün Sayınalp Salih Aksu Haluk Demiroğlu Osman İlhami Özcebe Yahya Büyükaşık

OBJECTIVE Myelodysplastic syndrome (MDS) is a clonal hematopoietic stem cell disease. Patients are at risk of developing cytopenias or progression to acute myeloid leukemia. Different classifications and prognostic scoring systems have been developed. The aim of this study was to compare the different prognostic scoring systems. MATERIALS AND METHODS One hundred and one patients who were diag...

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