Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance (Q34389314)

1 August 2017

Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance (English)

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autoimmune lymphoproliferative syndrome

1 August 2017

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author name string

Jackson CE

1

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1 August 2017

Fischer RE

2

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1 August 2017

Hsu AP

3

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1 August 2017

Anderson SM

4

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1 August 2017

Choi Y

5

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1 August 2017

Wang J

6

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1 August 2017

Dale JK

7

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1 August 2017

Fleisher TA

8

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1 August 2017

Middelton LA

9

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1 August 2017

Sneller MC

10

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1 August 2017

Lenardo MJ

11

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1 August 2017

Straus SE

12

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1 August 2017

Puck JM

13

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1 August 2017

language of work or name

English

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publication date

1 April 1999

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American Journal of Human Genetics

1 August 2017

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1 August 2017

64

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1 August 2017

1002-1014

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1 August 2017

4

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CD95 (APO-1/Fas) mutations in childhood T-lineage acute lymphoblastic leukemia.

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Mutations in the Fas antigen in patients with multiple myeloma.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Apoptosis by death factor

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

NMR structure and mutagenesis of the Fas (APO-1/CD95) death domain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Autoimmunity in mice bearing lprcg: a novel mutant gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Three functional soluble forms of the human apoptosis-inducing Fas molecule are produced by alternative splicing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Fas(CD95)/FasL interactions required for programmed cell death after T-cell activation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Autocrine T-cell suicide mediated by APO-1/(Fas/CD95)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Characterization of human Fas gene. Exon/intron organization and promoter region

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Generalized lymphoproliferative disease in mice, caused by a point mutation in the Fas ligand

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Factor XSanto Domingo. Evidence that the severe clinical phenotype arises from a mutation blocking secretion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Assignment of the human Fas antigen gene (Fas) to 10q24.1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

A promoter polymorphism of tumor necrosis factor alpha associated with systemic lupus erythematosus in African-Americans

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

HLA class II associations in African-American female patients with Graves' disease.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

An N-terminal domain shared by Fas/Apo-1 (CD95) soluble variants prevents cell death in vitro.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Differential expression of human Fas mRNA species upon peripheral blood mononuclear cell activation

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Cell-autonomous Fas (CD95)/Fas-ligand interaction mediates activation-induced apoptosis in T-cell hybridomas.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Structure of the human APO-1 gene.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Interleukin-2 programs mouse alpha beta T lymphocytes for apoptosis

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

A genetic association between systemic lupus erythematosus and tumor necrosis factor alpha

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377824

Dideoxy fingerprinting (ddF): A rapid and efficient screen for the presence of mutations

27 October 2018

1 reference

12 December 2020

Distinctive expression of lprcg in the heterozygous state on different genetic backgrounds

1 reference

12 December 2020

Detection of polymorphisms within the Fas cDNA gene sequence by GC-clamp denaturing gradient gel electrophoresis

1 reference

12 December 2020

Polymorphism of the tumor necrosis factor genes in patients with dermatitis herpetiformis

1 reference

12 December 2020

Cytokine production by normal human monocytes: inter-subject variation and relationship to an IL-1 receptor antagonist (IL-1Ra) gene polymorphism

1 reference

12 December 2020

Increased frequency of the uncommon allele of a tumour necrosis factor alpha gene polymorphism in rheumatoid arthritis and systemic lupus erythematosus

1 reference

12 December 2020

Tumor necrosis factor alpha (TNF-alpha) gene polymorphism in alopecia areata

1 reference

12 December 2020

Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis

1 reference

12 December 2020

Novel Fas (CD95/APO-1) mutations in infants with a lymphoproliferative disorder

1 reference

12 December 2020

Death domain receptors and their role in cell demise

1 reference

12 December 2020

The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis

1 reference

12 December 2020

Induction of various autoantibodies by mutant gene lpr in several strains of mice

1 reference

12 December 2020

Functional analysis of T cell subsets from mice bearing the lpr gene

1 reference

12 December 2020

Phenotypic, functional, and molecular genetic comparisons of the abnormal lymphoid cells of C3H-lpr/lpr and C3H-gld/gld mice

1 reference

12 December 2020

Identifiers

DOI

10.1086/302333

1 reference

1 August 2017

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1 August 2017

1 reference