Search filters

List of works by Patrick Concannon

14th International HLA and Immunogenetics Workshop: report on the HLA component of type 1 diabetes.

scientific article published on April 2007

A Haplotype-Based Analysis of the PTPN22 Locus in Type 1 Diabetes

article

A functional polymorphism (1858C/T) in the PTPN22 gene is linked and associated with type I diabetes in multiplex families

scientific article published in December 2004

A functional variant of IRS1 is associated with type 1 diabetes in families from the US and UK.

scientific article published in April 2004

A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2.

scientific article

A high frequency of distinct ATM gene mutations in ataxia-telangiectasia

scientific article published in October 1996

A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3

scientific article

A hybrid qPCR/SNP array approach allows cost efficient assessment of KIR gene copy numbers in large samples

scientific article

A method for gene-based pathway analysis using genomewide association study summary statistics reveals nine new type 1 diabetes associations

scientific article

A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome

scientific article published in September 2005

A primary linkage map of the human chromosome 11q22-23 region

scientific article published on February 1990

A pulsed-field gel electrophoresis map in the ataxia-telangiectasia region of chromosome 11q22.3.

scientific article published in March 1994

A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes mellitus

scientific article published in July 1998

ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia

scientific article published in November 2005

ATM heterozygosity and cancer risk

article published in 2002

ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer

scientific article published on October 2003

ATM, radiation, and the risk of second primary breast cancer

scientific article

ATM-dependent phosphorylation of MRE11 controls extent of resection during homology directed repair by signalling through Exonuclease 1.

scientific article published on 3 August 2015

ATM-dependent phosphorylation of nibrin in response to radiation exposure

scientific article

Active role for nibrin in the kinetics of atm activation

scientific article

Adjuvant systemic therapy for breast cancer in BRCA1/BRCA2 mutation carriers in a population-based study of risk of contralateral breast cancer

scientific article

An approach for identifying simple sequence repeat DNA polymorphisms near cloned cDNAs and genes. Linkage studies of the islet amyloid polypeptide/amylin and liver glycogen synthase genes and NIDDM.

scientific article published on March 1996

An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome

scientific article published in August 2004

An unusual mutation in RECQ4 gene leading to Rothmund–Thomson syndrome

article

Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling ⬇️

scientific article published on April 25, 2011

Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations

scientific article

Ataxia-telangiectasia: linkage analysis of chromosome 11q22-23 markers in Turkish families

scientific article published on 01 July 1992

Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening

scientific article published in July 1996

Breast Cancer Family History and Contralateral Breast Cancer Risk in Young Women: An Update From the Women's Environmental Cancer and Radiation Epidemiology Study

article by Anne S Reiner et al published 20 May 2018 in Journal of Clinical Oncology

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

scientific article

CAND3: A ubiquitously expressed gene immediately adjacent and in opposite transcriptional orientation to the ATM gene at 1lq23.1.

scientific article

CTSH regulates β-cell function and disease progression in newly diagnosed type 1 diabetes patients

scientific article

Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations

scientific article

Challenges and strategies for investigating the genetic complexity of common human diseases

scientific article

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study

scientific article

Chk2 activation dependence on Nbs1 after DNA damage

scientific article

Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer

scientific article

Common variants in genes coding for chemotherapy metabolizing enzymes, transporters, and targets: a case-control study of contralateral breast cancer risk in the WECARE Study

scientific article

Comparison of three brachytherapy gynecological intercavitary treatment planning systems

scientific article published in January 2004

Complementarity-determining region 1 sequence requirements drive limited V alpha usage in response to influenza hemagglutinin 307-319 peptide

scientific article published on April 2002

Comprehensive profiling of radiosensitive human cell lines with DNA damage response assays identifies the neutral comet assay as a potential surrogate for clonogenic survival

scientific article

Confirmation of novel type 1 diabetes risk loci in families

scientific article

Contralateral breast cancer after radiotherapy among BRCA1 and BRCA2 mutation carriers: a WECARE study report

scientific article

Current status and the future for the genetics of type I diabetes.

scientific article

Cytomegalovirus infection enhances the immune response to influenza.

scientific article

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency

scientific article

DNA sequence and polymorphism analysis of a region of the T-cell receptor beta locus thought to contain a susceptibility gene for multiple sclerosis

scientific article published in July 1995

DNA-dependent protein kinase and XRCC4-DNA ligase IV mobilization in the cell in response to DNA double strand breaks.

scientific article

Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis.

scientific article

Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer.

scientific article

Differences in T cell receptor restriction fragment length polymorphisms in patients with rheumatoid arthritis

scientific article published on April 1, 1992

Dinucleotide repeat polymorphism at 11q23

scientific article published on 01 July 1994

Dinucleotide repeat polymorphism at the NCAM locus

scientific article published on 01 May 1994

Disease-specific biases in alternative splicing and tissue-specific dysregulation revealed by multitissue profiling of lymphocyte gene expression in type 1 diabetes

scientific article published on 12 October 2017

Distinct functional domains of nibrin mediate Mre11 binding, focus formation, and nuclear localization

scientific article

Diversity and structure of human T-cell receptor alpha-chain variable region genes

scientific article

Diversity and structure of human T-cell receptor beta-chain variable region genes

scientific article published in September 1986

Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia

scientific article

Diversity ofATM gene mutations detected in patients with ataxia-telangiectasia

article

Dual functions of Nbs1 in the repair of DNA breaks and proliferation ensure proper V(D)J recombination and T-cell development.

scientific article

Effects of type 1 diabetes-associated IFIH1 polymorphisms on MDA5 function and expression

scientific article

Eighth International Workshop on Ataxia-Telangiectasia (ATW8)

Endogenous hSNM1B/Apollo interacts with TRF2 and stimulates ATM in response to ionizing radiation

scientific article

Etoposide and adriamycin but not genistein can activate the checkpoint kinase Chk2 independently of ATM/ATR.

scientific article

Evidence for two independent associations with type 1 diabetes at the 12q13 locus

scientific article

Evidence of gene-gene interaction and age-at-diagnosis effects in type 1 diabetes

scientific article

Expression pattern of the Nijmegen breakage syndrome gene, Nbs1, during murine development

scientific article published on July 2000

Extended DR3-D6S273-HLA-B haplotypes are associated with increased susceptibility to type 1 diabetes in US Caucasians

scientific article published on 01 January 2005

Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein

scientific article

Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype

scientific article

Fine mapping and functional studies of risk variants for type 1 diabetes at chromosome 16p13.13

scientific article

Frequency and polymorphism of simple sequence repeats in a contiguous 685-kb DNA sequence containing the human T-cell receptor beta-chain gene complex

scientific article published in October 1995

Frequency of human V beta 3+ cells correlates with polymorphism in recombination signal sequences

scientific article published in July 1995

Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk

scientific article

Functional delivery of large genomic DNA to human cells with a peptide-lipid vector

scientific article published in October 2003

Functional variants in SUMO4, TAB2 and NFκB and the risk of type 1 diabetes

article

Further localization of a multiple sclerosis susceptibility gene on chromosome 7q using a new T cell receptor beta-chain DNA polymorphism ⬇️

scientific article published on June 1, 1991

Further mapping of an ataxia-telangiectasia locus to the chromosome 11q23 region

scientific article

Genetic Haplotyping of Ataxia-telangiectasia Families Localizes the Major Gene to an ∼ 850 kb Region on Chromosome 11q23.1.

scientific article published in January 1994

Genetic and epigenetic variation in the lineage specification of regulatory T cells

scientific article

Genetic haplotyping of ataxia-telangiectasia families localizes the major gene to an ~850 kb region on chromosome 11 q23.1.

scientific article

Genetic polymorphisms and DNA sequences of T-cell antigen receptors and histocompatible antigen genes in primary Sjogren's syndrome

article

Genetic variation in PTPN22 corresponds to altered function of T and B lymphocytes

scientific article published in October 2007

Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus

scientific journal article

Genetics of Type 1 Diabetes Comes of Age

scientific article published on 01 January 2020

Genetics of type 1 diabetes: what's next?

scientific article

Genetics of type 1A diabetes

scientific article

Genome-Wide Analysis in Brazilians Reveals Highly Differentiated Native American Genome Regions

scientific article

Genome-Wide Association Study Reveals Genetic Link between Diarrhea-Associated Entamoeba histolytica Infection and Inflammatory Bowel Disease

scientific article published in 2018

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

scientific article

Genome-wide scan for linkage to type 1 diabetes in 2,496 multiplex families from the Type 1 Diabetes Genetics Consortium

scientific article

HLA DR-DQ haplotypes and genotypes and type 1 diabetes risk: analysis of the type 1 diabetes genetics consortium families

scientific article

HLA and T cell receptor beta-chain DNA polymorphisms identify a distinct subset of patients with pauciarticular-onset juvenile rheumatoid arthritis

scientific article published in May 1994

HLA and T cell receptor polymorphisms in pauciarticular-onset juvenile rheumatoid arthritis

scientific article

HLA class I and genetic susceptibility to type 1 diabetes: results from the Type 1 Diabetes Genetics Consortium

scientific article

HLA-DRB1*07:01 is associated with a higher risk of asparaginase allergies.

scientific article

Haplotyping the human T-cell receptor beta-chain gene complex by use of restriction fragment length polymorphisms

scientific article

Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks

scientific article

Hormone receptor status of a first primary breast cancer predicts contralateral breast cancer risk in the WECARE study population

scientific article

How Many Ataxia-Telangiectasia Genes?

article

Human SNM1B is required for normal cellular response to both DNA interstrand crosslink-inducing agents and ionizing radiation

scientific article

Human T cell receptor V beta gene polymorphism

scientific article

Human T-cell receptor CD3-gamma (CD3G)/MspI DNA polymorphism

scientific article

Human T-cell receptor V beta gene polymorphism and multiple sclerosis

scientific article published on April 1995

Human T-cell receptor Vα gene polymorphism ⬇️

scientific article published on December 1, 1991

Human T-cell receptor gene nomenclature

scientific article published in July 1995

Identification of ATIC as a Novel Target for Chemoradiosensitization

scientific article published on 21 September 2017

Identification of a novel human T-cell receptor V beta subfamily by genomic cloning

scientific article published on November 1994

Identification of microsatellite markers near the human ob gene and linkage studies in NIDDM-affected sib pairs

scientific article published on August 1995

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

ImmunoChip study implicates antigen presentation to T cells in narcolepsy

scientific article

Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression

scientific article

Imputing amino acid polymorphisms in human leukocyte antigens

scientific article

Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history

scientific article

Independent roles for nibrin and Mre11-Rad50 in the activation and function of Atm.

scientific article published on July 2004

Influence of coding region polymorphism on the peripheral expression of a human TCR V beta gene

scientific article published in February 1994

Intensity modulated radiotherapy for sinonasal malignancies with a focus on optic pathway preservation

scientific article

Isolation and mapping of a polymorphic DNA sequence pH30 on chromosome 4[HGM provisional no. D4S139]

scientific article

Isolation of a cDNA Clone Encoding a KATP Channel-Like Protein Expressed in Insulin-Secreting Cells, Localization of the Human Gene to Chromosome Band 21q22.1, and Linkage Studies With NIDDM

article

Isolation of a cDNA clone encoding a KATP channel-like protein expressed in insulin-secreting cells, localization of the human gene to chromosome band 21q22.1, and linkage studies with NIDDM

scientific article

Level of human TCRBV3S1 (V beta 3) expression correlates with allelic polymorphism in the spacer region of the recombination signal sequence

scientific article

Linkage and association between insulin–dependent diabetes mellitus (IDDM) susceptibility and markers near the glucokinase gene on chromosome 7 ⬇️

scientific article published on 01 June 1995

Linkage and association studies in insulin-dependent diabetes with a new dinucleotide repeat polymorphism at the GAD65 locus

scientific article published on January 1995

Linkage studies in NIDDM with markers near the sulphonylurea receptor gene

scientific article

Localization of an ataxia-telangiectasia gene to an approximately 500-kb interval on chromosome 11q23.1: linkage analysis of 176 families by an international consortium ⬇️

scientific article published on July 1, 1995

Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.

scientific article

Localization of an ataxia-telangiectasia locus to a 3-cM interval on chromosome 11q23: linkage analysis of 111 families by an international consortium ⬇️

scientific article published on December 1, 1991

Loci on chromosomes 2 (NIDDM1) and 15 interact to increase susceptibility to diabetes in Mexican Americans

article by Nancy J Cox et al published February 1999 in Nature Genetics

MAGE Xp-2: a member of the MAGE gene family isolated from an expression library using systemic lupus erythematosus sera

scientific article

Mapping genes for autoimmunity in humans: type 1 diabetes as a model

scientific article

Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome

scientific article published on March 2003

Modulation of promiscuous T cell receptor recognition by mutagenesis of CDR2 residues

scientific article

Molecular Genetics of Autoimmunity

article

Molecular genetics in cancer diagnosis

article

Molecular-genetic characterization of common, noncoding UBASH3A variants associated with type 1 diabetes

scientific article published on 28 February 2018

Mutations and molecular variants of the NBS1 gene in non-Hodgkin lymphoma

scientific article

NBN phosphorylation regulates the accumulation of MRN and ATM at sites of DNA double-strand breaks

scientific article

Nibrin forkhead-associated domain and breast cancer C-terminal domain are both required for nuclear focus formation and phosphorylation

scientific article (publication date: 13 June 2003)

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome

scientific article

Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families

scientific article published on March 2002

Novel Association Between Immune-Mediated Susceptibility Loci and Persistent Autoantibody Positivity in Type 1 Diabetes

scientific article

Nuclear export of NBN is required for normal cellular responses to radiation

scientific article

On the proposed association of the ATM variants 5557G>A and IVS38-8T>C and bilateral breast cancer

scientific article

Oral contraceptives and postmenopausal hormones and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers and noncarriers: the WECARE Study

scientific article

Organization of human T-cell receptor beta-chain genes: clusters of V beta genes are present on chromosomes 7 and 9.

scientific article

Organization, polymorphism, and expression of the human T-cell receptor AV1 subfamily

scientific article published in January 1997

Overview of the Type I Diabetes Genetics Consortium.

scientific article

PCR-based genotyping and haplotype analysis of human TCRBV gene segment polymorphisms ⬇️

scientific article published on January 1, 1995

Parameters for reliable results in genetic association studies in common disease

article

Physical map of the region surrounding the ataxia-telangiectasia gene on human chromosome 11q22-23.

scientific article

Polymorphic variation in the CBLB gene in human type 1 diabetes

scientific article published in May 2004

Polymorphism and phylogeny of dinucleotide repeats in human T-cell receptor Vb6 genes

scientific article published in January 1993

Polymorphisms in the Tcrb-V2 gene segments localize the Tcrb orphon genes to human chromosome 9p21.

scientific article published in January 1993

Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry

scientific article published in November 2006

Population-based study of the risk of second primary contralateral breast cancer associated with carrying a mutation in BRCA1 or BRCA2.

scientific article

Presentation of abundant endogenous class II DR-restricted antigens by DM-negative B cell lines.

scientific article published on April 1997

Protein kinase mutants of human ATR increase sensitivity to UV and ionizing radiation and abrogate cell cycle checkpoint control

scientific article

Radiation exposure, the ATM Gene, and contralateral breast cancer in the women's environmental cancer and radiation epidemiology study

scientific article

Rapid screen for truncating ATM mutations by PTT-ELISA.

scientific article published on 31 January 2008

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

scientific article

Rare germline mutations in PALB2 and breast cancer risk: a population-based study

scientific article

Recent advances in the immunogenetics of human type 1 diabetes

scientific article published on August 2006

Recent progress in the genetics of diabetes

scientific article

Recommendations of the 2006 Human Variome Project meeting

scientific article published in April 2007

Relative size and evolution of the germline repertoire of T-cell receptor beta-chain gene segments in nonhuman primates

scientific article published in January 1995

Remapping the insulin gene/IDDM2 locus in type 1 diabetes

scientific article published in July 2004

Repertoire and organization of human T-cell receptor alpha region variable genes

scientific article published in December 1996

Replication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1.

scientific article

Reproductive factors and risk of contralateral breast cancer by BRCA1 and BRCA2 mutation status: results from the WECARE study

scientific article

Results of the MHC fine mapping workshop.

scientific article

Retroviral expression of the NBS1 gene in cultured Nijmegen breakage syndrome cells restores normal radiation sensitivity and nuclear focus formation

scientific article

Risk for contralateral breast cancer among carriers of the CHEK2*1100delC mutation in the WECARE Study

scientific article

Risk of asynchronous contralateral breast cancer in noncarriers of BRCA1 and BRCA2 mutations with a family history of breast cancer: a report from the Women's Environmental Cancer and Radiation Epidemiology Study

scientific article

Role of Type 1 Diabetes-Associated SNPs on Autoantibody Positivity in the Type 1 Diabetes Genetics Consortium: Overview

scientific article published in October 2015

Role of leptin-mediated colonic inflammation in defense against Clostridium difficile colitis

scientific article

Searching for NIDDM susceptibility genes: studies of genes with triplet repeats expressed in skeletal muscle

scientific article

Searching for NIDDM susceptibility genes: studies of genes with triplet repeats expressed in skeletal muscle

scientific article (publication date: June 1996)

Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families

scientific article

Single nucleotide polymorphisms associated with risk for contralateral breast cancer in the Women's Environment, Cancer, and Radiation Epidemiology (WECARE) Study

scientific article

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

scientific article

Structure and expression of ferritin genes in a human promyelocytic cell line that differentiates in vitro

scientific article

Study design: evaluating gene-environment interactions in the etiology of breast cancer - the WECARE study

scientific article

Summary of the Type 1 Diabetes Genetics Consortium Autoantibody Workshop

scientific article

Systematic Evaluation of Genes and Genetic Variants Associated with Type 1 Diabetes Susceptibility

scientific article published on 24 February 2016

Systematic mutagenesis of TCR complementarity-determining region 3 residues: a single conservative substitution dramatically improves response to both multiple HLA-DR alleles and peptide variants

scientific article published in November 1999

Systemic therapy for breast cancer and risk of subsequent contralateral breast cancer in the WECARE Study

scientific article published on 12 July 2016

T-cell receptor beta-chain DNA polymorphism frequencies in healthy HLA-DR homozygotes

scientific article published in April 1990

T-cell receptor genes and insulin-dependent diabetes mellitus (IDDM): no evidence for linkage from affected sib pairs

scientific article (publication date: July 1990)

T-cell receptor polymorphisms in Tlingit Indians with rheumatoid arthritis.

scientific article published on January 1994

T-cell receptor repertoire in pulmonary sarcoidosis

scientific article published in July 1995

TCR expression and clonality analysis in pulmonary sarcoidosis

scientific article published in June 1996

Targeted Deep Sequencing in Multiple-Affected Sibships of European Ancestry Identifies Rare Deleterious Variants in PTPN22 That Confer Risk for Type 1 Diabetes

scientific article

The CHEK2*1100delC allelic variant and risk of breast cancer: screening results from the Breast Cancer Family Registry

scientific article

The HLA component of type 1 diabetes

The Type 1 Diabetes Genetics Consortium

scientific article published on October 2006

The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.

scientific article

The ataxia-telangiectasia gene (ATA) on chromosome II is distinct from the ETS-1 gene

scientific article

The extent of the human germline T-cell receptor V beta gene segment repertoire

scientific article published on January 1994

The genetics of type 1 diabetes: lessons learned and future challenges

scientific article

The germline repertoire of T cell receptor beta-chain genes in patients with chronic progressive multiple sclerosis

scientific article published in January 1989

The germline repertoire of T-cell receptor beta-chain genes in patients with multiple sclerosis

scientific article published on February 1989

The role of X-chromosome inactivation in female predisposition to autoimmunity

scientific article

The role of X-chromosome inactivation in female predispositionto autoimmunity

scientific article

Type 1 Diabetes Risk in African-Ancestry Participants and Utility of an Ancestry-Specific Genetic Risk Score

scientific article published on 18 January 2019

Type 1 diabetes: evidence for susceptibility loci from four genome-wide linkage scans in 1,435 multiplex families.

scientific article published in October 2005

UBASH3A Mediates Risk for Type 1 Diabetes Through Inhibition of T-Cell Receptor-Induced NF-κB Signaling

scientific article

Use of a polymorphic dinucleotide repeat DNA marker in a T-cell receptor V beta gene to identify a distinct subset of pauciarticular-onset juvenile rheumatoid arthritis patients

scientific article published in July 1995

Variants in activators and downstream targets of ATM, radiation exposure, and contralateral breast cancer risk in the WECARE study

scientific article

Variants in tamoxifen metabolizing genes: a case-control study of contralateral breast cancer risk in the WECARE study

scientific article published on 18 March 2013

Variants in the ATM gene associated with a reduced risk of contralateral breast cancer

scientific article

Variation in genes related to obesity, weight, and weight change and risk of contralateral breast cancer in the WECARE Study population

scientific article

Variation of breast cancer risk among BRCA1/2 carriers

scientific article

rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preliminary evidence for an additional protective haplotype

scientific article

Paulina is supported by:

About Paulina

Help