(Q39413664)

English

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance

scientific article published on 7 October 2011

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scholarly article

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Europe PubMed Central

PubMed publication ID

11 September 2017

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance (English)

1 reference

Europe PubMed Central

PubMed publication ID

11 September 2017

autoimmune lymphoproliferative syndrome

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Julie E. Niemela

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Julie E Niemela

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Jennifer M Puck

8

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Jennifer M Puck

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Europe PubMed Central

PubMed publication ID

11 September 2017

author name string

Amy P Hsu

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Europe PubMed Central

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11 September 2017

Kennichi C Dowdell

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Europe PubMed Central

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11 September 2017

Joie Davis

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11 September 2017

Stacie M Anderson

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Europe PubMed Central

PubMed publication ID

11 September 2017

Pamela A Shaw

6

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11 September 2017

V Koneti Rao

7

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11 September 2017

language of work or name

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publication date

7 October 2011

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11 September 2017

Genetics in Medicine

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11 September 2017

14

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11 September 2017

1

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11 September 2017

81-89

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11 September 2017

https://scigraph.springernature.com/pub.10.1038/gim.0b013e3182310b7d

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Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance

1 reference

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Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop

1 reference

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Defective c-Mpl signaling in the syndrome of thrombocytopenia with absent radii

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Regulation of apoptosis in immune cells

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Activation-induced death of mature T cells in the regulation of immune responses

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Life and death during lymphocyte development and function: evidence for two distinct killing mechanisms

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Clinical practice. Hereditary angioedema

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Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas" (Carney complex)

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Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors

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The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

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21 January 2018

Haploinsufficiency, rather than the effect of an excessive production of soluble CD95 (CD95{Delta}TM), is the basis for ALPS Ia in a family with duplicated 3' splice site AG in CD95 intron 5 on one allele

1 reference

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21 January 2018

HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia).

1 reference

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21 January 2018

Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6.

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Intron function in the nonsense-mediated decay of beta-globin mRNA: indications that pre-mRNA splicing in the nucleus can influence mRNA translation in the cytoplasm

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Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.

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21 January 2018

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

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21 January 2018

Mapping of the linear site on the Fas/APO-1 molecule targeted by the prototypic anti-Fas mAb.

1 reference

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Crystal structure of the soluble human 55 kd TNF receptor-human TNF beta complex: implications for TNF receptor activation

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The spectrum of apoptotic defects and clinical manifestations, including systemic lupus erythematosus, in humans with CD95 (Fas/APO-1) mutations

1 reference

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21 January 2018

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome

1 reference

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21 January 2018

Autoimmune lymphoproliferative syndrome with somatic Fas mutations

1 reference

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21 January 2018

CD95 death-inducing signaling complex formation and internalization occur in lipid rafts of type I and type II cells.

1 reference

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21 January 2018

SPOTS: signaling protein oligomeric transduction structures are early mediators of death receptor-induced apoptosis at the plasma membrane

1 reference

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21 January 2018

Palmitoylation is required for efficient Fas cell death signaling

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21 January 2018

Identification of a lysine-rich region of Fas as a raft nanodomain targeting signal necessary for Fas-mediated cell death.

1 reference

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21 January 2018

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation

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21 January 2018

Correction of Fas (CD95) deficiency by haploidentical bone marrow transplantation.

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21 January 2018

Inherited Perforin andFasMutations in a Patient with Autoimmune Lymphoproliferative Syndrome and Lymphoma

1 reference

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21 January 2018

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

1 reference

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7 January 2021

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Defective apoptosis due to a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma, and Hodgkin's disease

1 reference

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Quantitative determination of allele frequency in pooled DNA by using sequencing method

1 reference

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7 January 2021

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Identification of the ligand binding site in Fas (CD95) and analysis of Fas-ligand interactions

1 reference

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7 January 2021

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Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease?

1 reference

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Successful treatment of autoimmune lymphoproliferative syndrome and refractory autoimmune thrombocytopenic purpura with a reduced intensity conditioning stem cell transplantation followed by donor lymphocyte infusion

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7 January 2021

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Identifiers

10.1038/GIM.0B013E3182310B7D

1 reference

Europe PubMed Central

PubMed publication ID

11 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 September 2017

ResearchGate publication ID

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