Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination - Wikidata - awgldk - TriplyDB

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

http://www.wikidata.org/entity/Q36946520

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Humoral immunodeficiency : awareness for better support IgH chain class switch recombination: mechanism and regulation Educational paper: primary antibody deficiencies Structural, molecular and cellular functions of MSH2 and MSH6 during DNA mismatch repair, damage signaling and other noncanonical activities Inter-individual variation in DNA repair capacity: a need for multi-pathway functional assays to promote translational DNA repair research Update on the hyper immunoglobulin M syndromes 6th International Immunoglobulin Symposium: poster presentations.Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID Potential roles of activation-induced cytidine deaminase in promotion or prevention of autoimmunity in humans PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance.Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP).The DNA glycosylases Ogg1 and Nth1 do not contribute to Ig class switching in activated mouse splenic B cells.Impaired induction of DNA lesions during immunoglobulin class-switch recombination in humans influences end-joining repair.Exomic sequencing of immune-related genes reveals novel candidate variants associated with alopecia universalis.Pathogenesis, diagnosis, and management of primary antibody deficiencies and infections.An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complex.Mismatch-mediated error prone repair at the immunoglobulin genes.The ATPase activity of MLH1 is required to orchestrate DNA double-strand breaks and end processing during class switch recombination Metachronous occurrence of nonradiation-induced brain cavernous hemangioma and medulloblastoma in a child with neurofibromatosis type I phenotype.AIDing antibody diversity by error-prone mismatch repair.Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.Immunoglobulin class-switch recombination deficiencies.Non-canonical uracil processing in DNA gives rise to double-strand breaks and deletions: relevance to class switch recombination Primary immunodeficiencies associated with DNA-repair disorders.Study of patients with Hyper-IgM type IV phenotype who recovered spontaneously during late childhood and review of the literature.New frontiers of primary antibody deficiencies.DNA repair: the link between primary immunodeficiency and cancer.Primary antibody deficiencies.The hyper IgM syndromes.Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).The dual nature of mismatch repair as antimutator and mutator: for better or for worse.Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.Monogenic mutations associated with IgA deficiency.First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes.Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.Hematopoietic Stem Cell Transplantation for CD40 Ligand Deficiency: Single Institution Experience.Increased serum IgM, immunodeficiency, and autoimmunity: A clinical series.AID recruits UNG and Msh2 to Ig switch regions dependent upon the AID C terminus [corrected].

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P2860

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

http://www.wikidata.org/entity/Q36946520

description

2008 nî lūn-bûn

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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2008年论文

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name

Human PMS2 deficiency is assoc ...... lin class switch recombination

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Human PMS2 deficiency is assoc ...... lin class switch recombination

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type

label

Human PMS2 deficiency is assoc ...... lin class switch recombination

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Human PMS2 deficiency is assoc ...... lin class switch recombination

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Human PMS2 deficiency is assoc ...... lin class switch recombination

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Human PMS2 deficiency is assoc ...... lin class switch recombination

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Human PMS2 deficiency is assoc ...... lin class switch recombination

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P2093

Ayse Metin

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Christian Peter Kratz

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Eamonn Sheridan

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Marie-Alexandra Alyanakian

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Pauline Gardès

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P2860

Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)

Mutations affecting a putative MutLalpha endonuclease motif impact multiple mismatch repair functions

Role for Msh5 in the regulation of Ig class switch recombination

IgH class switching and translocations use a robust non-classical end-joining pathway

Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2

Somatic hypermutation and class switch recombination in Msh6(-/-)Ung(-/-) double-knockout mice

Role for mismatch repair proteins Msh2, Mlh1, and Pms2 in immunoglobulin class switching shown by sequence analysis of recombination junctions

Reduced isotype switching in splenic B cells from mice deficient in mismatch repair enzymes

Mismatch recognition and uracil excision provide complementary paths to both Ig switching and the A/T-focused phase of somatic mutation

Different mismatch repair deficiencies all have the same effects on somatic hypermutation: intact primary mechanism accompanied by secondary modifications

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2465-2472

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11

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205

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Eamonn Sheridan

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2008-09-29T00:00:00Z

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23287302

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18824584

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2571921

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