نتایج جستجو برای: deleting recombination excision circles

تعداد نتایج: 102334  

2013
Marco Chiarini Cinzia Zanotti Federico Serana Alessandra Sottini Diego Bertoli Luigi Caimi Luisa Imberti

Since its introduction as a public health programme in the United States in the early 1960s, newborn blood screening (NBS) has evolved from the detection of phenylalanine levels on filter paper to the application of DNA-based technologies to identify T-cell lymphopenia in infants with severe combined immunodeficiency. This latter use of NBS has required the development of an assay for T-cell ly...

Journal: :Genetics 1995
W Y Feng J B Hays

During infection of homoimmune Escherichia coli lysogens ("repressed infections"), undamaged nonreplicating lambda phage DNA circles undergo very little recombination. Prior UV irradiation of phages dramatically elevates recombinant frequencies, even in bacteria deficient in UvrABC-mediated excision repair. We previously reported that 80-90% of this UvrABC-independent recombination required Mut...

2012
Eszter Kapusi Katja Kempe Myroslava Rubtsova Jochen Kumlehn Mario Gils

The Streptomyces phage phiC31 integrase was tested for its feasibility in excising transgenes from the barley genome through site-specific recombination. We produced transgenic barley plants expressing an active phiC31 integrase and crossed them with transgenic barley plants carrying a target locus for recombination. The target sequence involves a reporter gene encoding green fluorescent protei...

Journal: :Haematologica 2016
Michaela Nováková Markéta Žaliová Martina Suková Marcin Wlodarski Aleš Janda Eva Froňková Vít Campr Kateřina Lejhancová Ondřej Zapletal Dagmar Pospíšilová Zdeňka Černá Tomáš Kuhn Peter Švec Vendula Pelková Zuzana Zemanová Gitte Kerndrup Marry van den Heuvel-Eibrink Vincent van der Velden Charlotte Niemeyer Tomáš Kalina Jan Trka Jan Starý Ondřej Hrušák Ester Mejstříková

GATA-2 deficiency was recently described as common cause of overlapping syndromes of immunodeficiency, lymphedema, familiar myelodysplastic syndrome or acute myeloid leukemia. The aim of our study was to analyze bone marrow and peripheral blood samples of children with myelodysplastic syndrome or aplastic anemia to define prevalence of the GATA2 mutation and to assess whether mutations in GATA-...

Journal: :Blood 2014
Angela Mensen Korinna Jöhrens Ioannis Anagnostopoulos Sonya Demski Maike Oey Andrea Stroux Philipp Hemmati Jörg Westermann Olga Blau Friedrich Wittenbecher Kamran Movassaghi Martin Szyska Sybill Thomas Bernd Dörken Carmen Scheibenbogen Renate Arnold Il-Kang Na

B-cell immune dysfunction contributes to the risk of severe infections after allogeneic hematopoietic stem cell transplantation (allo-HSCT). Delayed B-cell regeneration is found in patients with systemic graft-versus-host disease (GVHD) and is often accompanied by bone marrow (BM) suppression. Little is known about human BM GVHD. We analyzed the reconstitution kinetics of B-cell subsets in adul...

Journal: :The Israel Medical Association journal : IMAJ 2013
Raz Somech Atar Lev Amos J Simon David Korn Ben Zion Garty Ninette Amariglio Gideon Rechavi Shlomo Almashanu Joel Zlotogora Amos Etzioni

BACKGROUND Enumeration of T cell receptor excision circles (TREC) was recently adopted as a neonatal screening assay for severe combined immunodeficiency (SCID). Enumeration of kappa-deleting recombination excision circle (KREC) copy numbers can be similarly used for early assessment of B cell lymphopenia. OBJECTIVE To assess the ability of TREC and KREC counts to identify patients with combi...

2014
Eva Froňková Adam Klocperk Michael Svatoň Michaela Nováková Michaela Kotrová Jana Kayserová Tomáš Kalina Petra Keslová Felix Votava Hana Vinohradská Tomáš Freiberger Ester Mejstříková Jan Trka Anna Šedivá

UNLABELLED DiGeorge syndrome (DGS) presents with a wide spectrum of thymic pathologies. Nationwide neonatal screening programs of lymphocyte production using T-cell recombination excision circles (TREC) have repeatedly identified patients with DGS. We tested what proportion of DGS patients could be identified at birth by combined TREC and kappa-deleting element recombination circle (KREC) scree...

Journal: :RMŽ. Medicinskoe obozrenie 2022

Primary immune deficiency diseases (PIDDs) are a group of severe genetically determined caused by disorder the immunity links: humoral and cell-mediated links, phagocytosis, complement system. PIDDs characterized atypical recurrent infections, as well autoimmune oncological processes. In case clinical symptoms, skin manifestations in allow to suspect presence congenital disorders immunity. Ther...

2016
Kazuhiro Ikegame Kohsuke Imai Motoi Yamashita Akihiro Hoshino Hirokazu Kanegane Tomohiro Morio Katsuji Kaida Takayuki Inoue Toshihiro Soma Hiroya Tamaki Masaya Okada Hiroyasu Ogawa

BACKGROUND We herein report the first case of X-linked agammaglobulinemia (XLA) that underwent allogeneic stem cell transplantation using reduced intensity conditioning (RIC). We chronologically observed the reconstitution of humoral immunity in this case. CASE PRESENTATION The patient was a 28-year-old Japanese male with XLA who previously had life-threatening infectious episodes and was ref...

2012
Maria Izabel Arismendi Esper Georges Kallás Bianca Almeida Natali dos Santos Magda Maria Sales Carneiro-Sampaio Cristiane Kayser

OBJECTIVES The purpose of this study was to investigate the association between T cell receptor excision circle levels in peripheral blood mononuclear cells and regulatory T cells that co-express CD25 and Foxp3 in healthy children and adolescents of different ages. MATERIALS AND METHODS The quantification of signal-joint T-cell receptor excision circle levels in the genomic DNA of peripheral ...

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