نتایج جستجو برای: scid

تعداد نتایج: 7562  

Journal: :Epilepsy & Behavior 2021

BackgroundPsychogenic nonepileptic seizures (PNES) are major challenges for diagnosis and management. The heterogeneity of psychogenic is attributed to diverse psychopathological comorbidities, the causal relationship between PNES underlying psychopathologies still enigmatic.ObjectiveOur objective was study psychiatric comorbidities personality constructs in patients with compare them a control...

Journal: :Blood 1995
F M Uckun H Sather G Reaman J Shuster V Land M Trigg R Gunther L Chelstrom A Bleyer P Gaynon

Mice with severe combined immunodeficiency (SCID) provide a model system to examine the in vivo homing, engraftment, and growth patterns of normal and malignant human hematopoietic cells. The relation between leukemic cell growth in this model and the treatment outcome in patients from whom cells were derived has not been established. Leukemic cells from 42 children with newly diagnosed high-ri...

2014
Tetsuya Ito Yutaka Sendai Satoshi Yamazaki Marie Seki-Soma Kensuke Hirose Motoo Watanabe Kazuo Fukawa Hiromitsu Nakauchi

Although severe combined immune deficiency (SCID) is a very important research model for mice and SCID mice are widely used, there are only few reports describing the SCID pig models. Therefore, additional research in this area is needed. In this study, we describe the generation of Recombination activating gene-1 (Rag-1)-deficient neonatal piglets in Duroc breed using somatic cell nuclear tran...

2014
Aleksandra Szczawińska-Popłonyk Katarzyna Jończyk-Potoczna Lidia Ossowska Anna Bręborowicz Alicja Bartkowska-Śniatkowska Jacek Wachowiak

Severe combined immunodeficiency (SCID) is characterized by the absence of functional T lymphocytes and impairment of adaptive immunity. While heterogeneity of the genetic background in SCID leads to the variability of immune phenotypes, most of affected newborns appear healthy but within the first few months they develop life-threatening opportunistic respiratory or gastrointestinal tract infe...

Journal: :The Journal of Experimental Medicine 1991
J E Riggs R S Stowers D E Mosier

Mice with the autosomal recessive severe combined immune deficiency (scid) mutation lack mature lymphocytes because of defective joining of T cell receptor and immunoglobulin (Ig) gene segments. Penetrance of this mutation is incomplete since 10-25% of SCID mice produce some T or B lymphocytes. This "leaky" phenotype could be due to a reversion of the mutation in some mice or to a constant, low...

Journal: :Immunologic research 2014
Vicki Modell Megan Knaus Fred Modell

Severe combined immunodeficiency (SCID) is a group of syndromes resulting from genetic defects causing absence in T-cell and B-cell function, leading to serious and life-threatening infections. SCID is often fatal in the first 2 years of life if not identified and properly treated. While additional laboratory methods are being developed, the current T-cell receptor excision circle assay has pro...

Journal: :Journal of Veterinary Medical Science 1997

Journal: :Genes & development 1996
C J Guidos C J Williams I Grandal G Knowles M T Huang J S Danska

Double-stranded DNA breaks (DSBs) trigger p53-mediated cell cycle arrest or apoptosis pathways that limit the oncogenic consequences of exposure to genotoxic agents, but p53-mediated responses to DSB generated by normal physiologic events have not been documented. "Broken" V(D)J coding ends accumulate in scid lymphocyte precursors as a consequence of a mutation in DNA-dependent protein kinase (...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1996
T Blunt D Gell M Fox G E Taccioli A R Lehmann S P Jackson P A Jeggo

DNA-dependent protein kinase (DNA-PK) consists of a heterodimeric protein (Ku) and a large catalytic subunit (DNA-PKcs). The Ku protein has double-stranded DNA end-binding activity that serves to recruit the complex to DNA ends. Despite having serine/threonine protein kinase activity, DNA-PKcs falls into the phosphatidylinositol 3-kinase superfamily. DNA-PK functions in DNA double-strand break ...

Journal: :Blood 2012
Amel Hassan Claire Booth Alex Brightwell Zoe Allwood Paul Veys Kanchan Rao Manfred Hönig Wilhelm Friedrich Andrew Gennery Mary Slatter Robbert Bredius Andrea Finocchi Caterina Cancrini Alessandro Aiuti Fulvio Porta Arnalda Lanfranchi Michela Ridella Colin Steward Alexandra Filipovich Rebecca Marsh Victoria Bordon Saleh Al-Muhsen Hamoud Al-Mousa Zobaida Alsum Hasan Al-Dhekri Abdulaziz Al Ghonaium Carsten Speckmann Alain Fischer Nizar Mahlaoui Kim E Nichols Eyal Grunebaum Daifulah Al Zahrani Chaim M Roifman Jaap Boelens E Graham Davies Marina Cavazzana-Calvo Luigi Notarangelo H Bobby Gaspar

Deficiency of the purine salvage enzyme adenosine deaminase leads to SCID (ADA-SCID). Hematopoietic cell transplantation (HCT) can lead to a permanent cure of SCID; however, little data are available on outcome of HCT for ADA-SCID in particular. In this multicenter retrospective study, we analyzed outcome of HCT in 106 patients with ADA-SCID who received a total of 119 transplants. HCT from mat...

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