Lista de obras - Pan-Hammarström Q - Dominio Público Uruguay

A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.

artículo científico publicado en 2014

A regulatory role for NBS1 in strand-specific mutagenesis during somatic hypermutation

artículo científico publicado en 2008

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

scientific article published on 21 October 2013

Aberrant recombination and repair during immunoglobulin class switching in BRCA1-deficient human B cells

artículo científico publicado en 2015

Altered spectrum of somatic hypermutation in common variable immunodeficiency disease characteristic of defective repair of mutations ⬇️

artículo científico publicado el 12 de octubre de 2010

Antibody deficiency diseases.

artículo científico publicado en 2008

Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide.

artículo científico publicado en 2011

B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans.

scholarly article

CD27(-) B-cells produce class switched and somatically hyper-mutated antibodies during chronic HIV-1 infection

artículo científico publicado en 2009

Class switch recombination: a comparison between mouse and human.

artículo científico publicado en 2007

Clinical and functional impact of recurrent S1PR1 mutations in mantle cell lymphoma

scientific article published on 01 March 2018

Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency

artículo científico publicado en 2018

Co-expression of PD-L1 and p-AKT is associated with poor prognosis in diffuse large B-cell lymphoma via PD-1/PD-L1 axis activating intracellular AKT/mTOR pathway in tumor cells

artículo científico publicado en 2016

Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency

scientific article published on 23 December 2016

Comment on "Reassessment of the role of mut S homolog 5 in Ig class switch recombination shows lack of involvement in cis- and trans-switching".

artículo científico publicado en 2009

Comment on "Resistin-like molecule beta (RELMbeta/FIZZ2) is highly expressed in the ileum of SAMP1/YitFc mice and is associated with initiation of ileitis"

artículo científico publicado en 2008

Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles

artículo científico publicado en 2012

Cytokine gene expression profiles in human lymphocytes induced by a formula of traditional Chinese medicine, vigconic VI-28.

artículo científico publicado en 2006

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.

artículo científico publicado en 2015

DNA repair genes are selectively mutated in diffuse large B cell lymphomas

artículo científico publicado en 2013

DNA-PKcs Is Involved in Ig Class Switch Recombination in Human B Cells

artículo científico publicado en 2015

Defects in plasma cell differentiation are associated with primary immunodeficiency in human subjects.

artículo científico publicado en 2017

Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity

artículo científico publicado en 2012

Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells

artículo científico publicado en 2014

Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation

artículo científico publicado en 2006

Distinct subtype distribution and somatic mutation spectrum of lymphomas in East Asia

artículo científico publicado en 2017

Exome sequencing reveals novel mutation targets in diffuse large B-cell lymphomas derived from Chinese patients.

artículo científico publicado en 2014

Extensive diversification of IgH subclass-encoding genes and IgM subclass switching in crocodilians.

artículo científico publicado en 2013

Genetic Landscapes of Relapsed and Refractory Diffuse Large B-Cell Lymphomas.

artículo científico publicado en 2015

Genetic basis of PD-L1 overexpression in diffuse large B-cell lymphomas

artículo científico publicado en 2016

Genetic heterogeneity in primary and relapsed mantle cell lymphomas: Impact of recurrent CARD11 mutations.

artículo científico publicado en 2016

Genetic landscape and deregulated pathways in B-cell lymphoid malignancies

artículo científico

Genome-wide CRISPR screens reveal synthetic lethal interaction between CREBBP and EP300 in diffuse large B-cell lymphoma

artículo científico publicado en 2021

High-density SNP mapping of the HLA region identifies multiple independent susceptibility loci associated with selective IgA deficiency.

artículo científico publicado en 2012

Identification of IgF, a hinge-region-containing Ig class, and IgD in Xenopus tropicalis

artículo científico publicado en 2006

IgA subclass switch recombination in human mucosal and systemic immune compartments.

artículo científico publicado en 2013

Immunodeficiency in Bloom's Syndrome.

artículo científico publicado en 2017

Impact of DNA ligase IV on nonhomologous end joining pathways during class switch recombination in human cells.

artículo científico publicado en 2005

Interleukin-21 restores immunoglobulin production ex vivo in patients with common variable immunodeficiency and selective IgA deficiency

artículo científico publicado en 2009

Lack of association between human switch recombination breakpoints and the secondary structure of targeted DNA regions.

artículo científico publicado en 2004

Lack of correlation between the reduction of serum immunoglobulin concentration and the CTG repeat expansion in patients with type 1 dystrophia [correction of Dystrofia] myotonica

scientific article published on 01 November 2003

Lactobacilli expressing variable domain of llama heavy-chain antibody fragments (lactobodies) confer protection against rotavirus-induced diarrhea

artículo científico publicado en 2006

Multiple IgH Isotypes Including IgD, Subclasses of IgM, and IgY Are Expressed in the Common Ancestors of Modern Birds.

artículo científico publicado en 2016

Mutation of TNFRSF13B in a child with 22q11 deletion syndrome associated with granulomatous lymphoproliferation

scientific article published on 28 August 2014

Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans.

artículo científico publicado en 2005

NEIL1 is a candidate gene associated with common variable immunodeficiency in a patient with a chromosome 15q24 deletion.

artículo científico publicado en 2017

Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR.

artículo científico publicado en 2011

New facets of antibody deficiencies

artículo científico

Non-homologous end joining in class switch recombination: the beginning of the end ⬇️

artículo científico publicado en 2009

Novel Mutations in TACI (TNFRSF13B) Causing Common Variable Immunodeficiency

artículo científico publicado en 2009

Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome.

artículo científico publicado en 2012

Nurture your scientific curiosity early in your research career.

artículo científico publicado en 2013

Physical mapping of the giant panda immunoglobulin heavy chain constant region genes.

artículo científico publicado en 2007

Placental transfer of maternally-derived IgA precludes the use of guthrie card eluates as a screening tool for primary immunodeficiency diseases.

artículo científico publicado en 2012

Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.

artículo científico publicado en 2011

Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome.

artículo científico publicado en 2017

Relation of activation-induced deaminase (AID) expression with antibody response to A(H1N1)pdm09 vaccination in HIV-1 infected patients.

artículo científico publicado en 2013

Screening of functional and positional candidate genes in families with common variable immunodeficiency

artículo científico publicado en 2008

Selective IgA deficiency in early life: Association to infections and allergic diseases during childhood

article

Selective IgG2 deficiency due to a point mutation causing abnormal splicing of the Cgamma2 gene

artículo científico publicado en 2004

Serum microarrays for large scale screening of protein levels.

artículo científico publicado en 2005

Severe congenital neutropenia or hyper-IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia.

artículo científico publicado en 2008

Study of an extended family with CTLA-4 deficiency suggests a CD28/CTLA-4 independent mechanism responsible for differences in disease manifestations and severity

artículo científico publicado en 2018

Synergistic antitumor effect of histone deacetylase inhibitor and Doxorubicin in peripheral T-cell lymphoma.

artículo científico publicado en 2017

The H2B deubiquitinase Usp22 promotes antibody class switch recombination by facilitating non-homologous end joining.

artículo científico publicado en 2018

The porcine Ig delta gene: unique chimeric splicing of the first constant region domain in its heavy chain transcripts.

artículo científico publicado en 2003

The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency.

artículo científico publicado en 2008

Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID

artículo científico publicado en 2010

XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.

artículo científico publicado en 2015

Lista de obras de Pan-Hammarström Q

A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.

A regulatory role for NBS1 in strand-specific mutagenesis during somatic hypermutation

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

Aberrant recombination and repair during immunoglobulin class switching in BRCA1-deficient human B cells

Altered spectrum of somatic hypermutation in common variable immunodeficiency disease characteristic of defective repair of mutations ⬇️

Antibody deficiency diseases.

Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide.

B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans.

CD27(-) B-cells produce class switched and somatically hyper-mutated antibodies during chronic HIV-1 infection

Class switch recombination: a comparison between mouse and human.

Clinical and functional impact of recurrent S1PR1 mutations in mantle cell lymphoma

Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency

Co-expression of PD-L1 and p-AKT is associated with poor prognosis in diffuse large B-cell lymphoma via PD-1/PD-L1 axis activating intracellular AKT/mTOR pathway in tumor cells

Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency

Comment on "Reassessment of the role of mut S homolog 5 in Ig class switch recombination shows lack of involvement in cis- and trans-switching".

Comment on "Resistin-like molecule beta (RELMbeta/FIZZ2) is highly expressed in the ileum of SAMP1/YitFc mice and is associated with initiation of ileitis"

Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles

Cytokine gene expression profiles in human lymphocytes induced by a formula of traditional Chinese medicine, vigconic VI-28.

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.

DNA repair genes are selectively mutated in diffuse large B cell lymphomas

DNA-PKcs Is Involved in Ig Class Switch Recombination in Human B Cells

Defects in plasma cell differentiation are associated with primary immunodeficiency in human subjects.

Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity

Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells

Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation

Distinct subtype distribution and somatic mutation spectrum of lymphomas in East Asia

Exome sequencing reveals novel mutation targets in diffuse large B-cell lymphomas derived from Chinese patients.

Extensive diversification of IgH subclass-encoding genes and IgM subclass switching in crocodilians.

Genetic Landscapes of Relapsed and Refractory Diffuse Large B-Cell Lymphomas.

Genetic basis of PD-L1 overexpression in diffuse large B-cell lymphomas

Genetic heterogeneity in primary and relapsed mantle cell lymphomas: Impact of recurrent CARD11 mutations.

Genetic landscape and deregulated pathways in B-cell lymphoid malignancies

Genome-wide CRISPR screens reveal synthetic lethal interaction between CREBBP and EP300 in diffuse large B-cell lymphoma

High-density SNP mapping of the HLA region identifies multiple independent susceptibility loci associated with selective IgA deficiency.

Identification of IgF, a hinge-region-containing Ig class, and IgD in Xenopus tropicalis

IgA subclass switch recombination in human mucosal and systemic immune compartments.

Immunodeficiency in Bloom's Syndrome.

Impact of DNA ligase IV on nonhomologous end joining pathways during class switch recombination in human cells.

Interleukin-21 restores immunoglobulin production ex vivo in patients with common variable immunodeficiency and selective IgA deficiency

Lack of association between human switch recombination breakpoints and the secondary structure of targeted DNA regions.

Lack of correlation between the reduction of serum immunoglobulin concentration and the CTG repeat expansion in patients with type 1 dystrophia [correction of Dystrofia] myotonica

Lactobacilli expressing variable domain of llama heavy-chain antibody fragments (lactobodies) confer protection against rotavirus-induced diarrhea

Multiple IgH Isotypes Including IgD, Subclasses of IgM, and IgY Are Expressed in the Common Ancestors of Modern Birds.

Mutation of TNFRSF13B in a child with 22q11 deletion syndrome associated with granulomatous lymphoproliferation

Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans.

NEIL1 is a candidate gene associated with common variable immunodeficiency in a patient with a chromosome 15q24 deletion.

Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR.

New facets of antibody deficiencies

Non-homologous end joining in class switch recombination: the beginning of the end ⬇️

Novel Mutations in TACI (TNFRSF13B) Causing Common Variable Immunodeficiency

Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome.

Nurture your scientific curiosity early in your research career.

Physical mapping of the giant panda immunoglobulin heavy chain constant region genes.

Placental transfer of maternally-derived IgA precludes the use of guthrie card eluates as a screening tool for primary immunodeficiency diseases.

Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.

Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome.

Relation of activation-induced deaminase (AID) expression with antibody response to A(H1N1)pdm09 vaccination in HIV-1 infected patients.

Screening of functional and positional candidate genes in families with common variable immunodeficiency

Selective IgA deficiency in early life: Association to infections and allergic diseases during childhood

Selective IgG2 deficiency due to a point mutation causing abnormal splicing of the Cgamma2 gene

Serum microarrays for large scale screening of protein levels.

Severe congenital neutropenia or hyper-IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia.

Study of an extended family with CTLA-4 deficiency suggests a CD28/CTLA-4 independent mechanism responsible for differences in disease manifestations and severity

Synergistic antitumor effect of histone deacetylase inhibitor and Doxorubicin in peripheral T-cell lymphoma.

The H2B deubiquitinase Usp22 promotes antibody class switch recombination by facilitating non-homologous end joining.

The porcine Ig delta gene: unique chimeric splicing of the first constant region domain in its heavy chain transcripts.

The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency.

Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID

XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.