نتایج جستجو برای: class switch recombination hyper igm syndrome

تعداد نتایج: 1135873  

Journal: :The Journal of Experimental Medicine 2008
Christopher J. Jolly Adam J.L. Cook John P. Manis

Immunoglobulin (Ig) class switch recombination (CSR) involves the breakage and subsequent repair of two DNA sequences, known as switch (S) regions, which flank IgH constant region exons. The resolution of CSR-associated breaks is thought to require the nonhomologous end-joining (NHEJ) DNA repair pathway, but the role of the NHEJ factor DNA-dependent protein kinase catalytic subunit (DNA-PKcs) i...

Journal: :The Journal of Cell Biology 2004
Irene M. Ward Bernardo Reina-San-Martin Alexandru Olaru Kay Minn Koji Tamada Julie S. Lau Marilia Cascalho Lieping Chen Andre Nussenzweig Ferenc Livak Michel C. Nussenzweig Junjie Chen

53BP1 participates early in the DNA damage response and is involved in cell cycle checkpoint control. Moreover, the phenotype of mice and cells deficient in 53BP1 suggests a defect in DNA repair (Ward et al., 2003b). Therefore, we asked whether or not 53BP1 would be required for the efficient repair of DNA double strand breaks. Our data indicate that homologous recombination by gene conversion ...

2015
Isabelle Robert Léa Gaudot Mélanie Rogier Vincent Heyer Aurélia Noll Françoise Dantzer Bernardo Reina-San-Martin Nancy Maizels

To generate highly specific and adapted immune responses, B cells diversify their antibody repertoire through mechanisms involving the generation of programmed DNA damage. Somatic hypermutation (SHM) and class switch recombination (CSR) are initiated by the recruitment of activation-induced cytidine deaminase (AID) to immunoglobulin loci and by the subsequent generation of DNA lesions, which ar...

2012
Muhammed Mubarak Javed I Kazi

IgM nephropathy (IgMN) is an idiopathic immune complex-mediated glomerulopathy that was first described as a distinct disease in a nephropathology literature in 1978. Here, a historical review and the current status of IgMN in the light of world literature and the current experience will be presented. The Pubmed (www.pubmed.gov) search was made for articles on IgMN as the sole subject of the st...

Journal: :Clinical genetics 2013
A Vargas-Hernández L Berrón-Ruiz T Staines-Boone MdC Zarate-Hernández W O Córdova-Calderón F J Espinosa-Rosales L Santos-Argumedo

To the Editor : Hyper-immunoglobulin M (IgM) syndromes are characterized by the presence of recurrent infections, low levels of IgG and IgA, and normal to high levels of IgM. The X-linked hyper-IgM (X-HIGM) syndrome is the most frequently observed subtype of hyperIgM syndromes (65–70%) and results from defects in the CD40L gene, which encodes for the CD40 ligand (CD154) (1–3). In this study, a ...

Journal: :The Journal of Experimental Medicine 2001
Chung-Gi Lee Kazuo Kinoshita Arulvathani Arudchandran Susana M. Cerritelli Robert J. Crouch Tasuku Honjo

The isotype specificity of immunoglobulin (Ig) class switching is regulated by a cytokine which induces transcription of a specific switch (S) region, giving rise to so-called germline transcripts. Although previous studies have demonstrated that germline transcription of an S region is required for class switch recombination (CSR) of that particular S region, it has not been shown whether the ...

2015
Bharat Vaidyanathan Jayanta Chaudhuri

Class switch recombination imparts B cells with a fitness-associated adaptive -advantage during a humoral immune response by using a precision-tailored DNA excision and ligation process to swap the default constant region gene of the antibody with a new one that has unique effector functions. This secondary diversification of the antibody repertoire is a hallmark of the adaptability of B cells ...

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