(Q54568757)

1 June 2018

title

HIGM syndrome caused by insertion of an AluYb8 element in exon 1 of the CD40LG gene. (English)

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1 June 2018

author name string

P A Apoil

1

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1 June 2018

E Kuhlein

2

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1 June 2018

A Robert

3

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1 June 2018

H Rubie

4

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1 June 2018

A Blancher

5

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1 June 2018

language of work or name

English

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publication date

5 December 2006

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1 June 2018

published in

Immunogenetics

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1 June 2018

volume

59

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1 June 2018

page(s)

17-23

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1 June 2018

issue

1

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1 June 2018

https://scigraph.springernature.com/pub.10.1007/s00251-006-0175-5

exact match

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cites work

Master genes in mammalian repetitive DNA amplification

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00251-006-0175-5

Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition

21 January 2018

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Integration of retroposable elements in mammals: selection of target sites.

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12 December 2020

Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary.

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Genome-wide analysis of the human Alu Yb-lineage

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12 December 2020

CENSOR--a program for identification and elimination of repetitive elements from DNA sequences.

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12 December 2020

Inactivation of the cholinesterase gene by Alu insertion: possible mechanism for human gene transposition

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12 December 2020

Insertion of Alu element responsible for acute intermittent porphyria

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12 December 2020

CD40 ligand and its role in X-linked hyper-IgM syndrome

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12 December 2020

Repbase Update, a database of eukaryotic repetitive elements

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12 December 2020

CD40Lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome

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12 December 2020

Evidence that in X-linked immunodeficiency with hyperimmunoglobulinemia M the intrinsic immunoglobulin heavy chain class switch mechanism is intact

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12 December 2020

Human dendritic cells activate T lymphocytes via a CD40: CD40 ligand-dependent pathway

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12 December 2020

An Alu insert as the cause of a severe form of hemophilia A.

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12 December 2020

The human T cell antigen gp39, a member of the TNF gene family, is a ligand for the CD40 receptor: expression of a soluble form of gp39 with B cell co-stimulatory activity

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12 December 2020

Alu repeats and human disease

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12 December 2020

CD154 variants associated with hyper-IgM syndrome can form oligomers and trigger CD40-mediated signals

1 reference

12 December 2020

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

1 reference

12 December 2020

Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene

1 reference

12 December 2020

Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome

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12 December 2020

A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease

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12 December 2020

Mutation analysis in the BRCA2 gene in primary breast cancers

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Frequency of recent retrotransposition events in the human factor IX gene

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12 December 2020

The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping.

1 reference

12 December 2020

CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome

1 reference

12 December 2020

Identification of a novel large F9 gene mutation-an insertion of an Alu repeated DNA element in exon e of the factor 9 gene

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12 December 2020

Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.

1 reference

12 December 2020

SVA elements are nonautonomous retrotransposons that cause disease in humans

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12 December 2020

De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes

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12 December 2020

A 39-kDa protein on activated helper T cells binds CD40 and transduces the signal for cognate activation of B cells

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12 December 2020

Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM

1 reference

12 December 2020

Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

1 reference

12 December 2020

Whole-genome analysis of Alu repeat elements reveals complex evolutionary history

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12 December 2020

Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene

1 reference

12 December 2020

Upstream sequences modulate the internal promoter of the human 7SL RNA gene

1 reference

12 December 2020

Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis

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12 December 2020

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome

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12 December 2020

Alu repeats and human genomic diversity

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12 December 2020

Prediction of human mRNA donor and acceptor sites from the DNA sequence.

1 reference

12 December 2020

Initial sequencing and analysis of the human genome

1 reference

12 December 2020

10.1007/S00251-006-0175-5

Identifiers

DOI

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1 June 2018

PubMed ID

17146684

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1 June 2018