(Q35228193)

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Molecular pathology of the X-linked hyper-immunoglobulin M syndrome: detection of wild-type transcripts in a patient with a complex splicing defect of the CD40 ligand

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8914765%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Molecular pathology of the X-linked hyper-immunoglobulin M syndrome: detection of wild-type transcripts in a patient with a complex splicing defect of the CD40 ligand (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8914765%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

author name string

Ameratunga R

1

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21 October 2019

McKee J

2

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21 October 2019

French J

3

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21 October 2019

Prestidge R

4

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Europe PubMed Central

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21 October 2019

Fanslow W

5

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21 October 2019

Marbrook J

6

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21 October 2019

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1 November 1996

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Europe PubMed Central

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21 October 2019

Clinical and Vaccine Immunology

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8914765%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

3

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21 October 2019

6

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21 October 2019

722-726

1 reference

Europe PubMed Central

PMC publication ID

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21 October 2019

Deletions in the ligand for CD40 in X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=170437

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=170437

13 July 2018

Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=170437

13 July 2018

Structural characteristics of CD40 ligand that determine biological function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=170437

13 July 2018

The random inactivation of the X chromosome carrying the defective gene responsible for X-linked hyper IgM syndrome (X-HIM) in female carriers of HIGM1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=170437

13 July 2018

Correction of neutropenia associated with dysgammaglobulinemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=170437

13 July 2018

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=170437

13 July 2018

Activation of human B cells mediated through two distinct cell surface differentiation antigens, Bp35 and Bp50

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=170437

13 July 2018

Retinoic acid induced differentiated neuroblastoma cells show increased expression of the beta A4 amyloid gene of Alzheimer's disease and an altered splicing pattern

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=170437

13 July 2018

Molecular cloning and characterization of grancalcin, a novel EF-hand calcium-binding protein abundant in neutrophils and monocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=170437

13 July 2018

CD40 and IgE: synergism between anti-CD40 monoclonal antibody and interleukin 4 in the induction of IgE synthesis by highly purified human B cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=170437

13 July 2018

Immunodeficiency with hyper-IgM (HIM)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=170437

13 July 2018

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=170437

13 July 2018

Molecular and biological characterization of a murine ligand for CD40

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=170437

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=170437

26 September 2018

Recurrent bacterial infections and dysgamma-globulinemia: deficiency of 7S gamma-globulins in the presence of elevated 19S gamma-globulins. Report of two cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/8914765

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Soluble forms of CD40 inhibit biologic responses of human B cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/8914765

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8914765

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8914765

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM

1 reference

https://pubmed.ncbi.nlm.nih.gov/8914765

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CD40 ligand (CD40L) expression and B cell function in agammaglobulinemia with normal or elevated levels of IgM (HIM). Comparison of X-linked, autosomal recessive, and non-X-linked forms of the disease, and obligate carriers

1 reference

https://pubmed.ncbi.nlm.nih.gov/8914765

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A point mutation in exon 2 of the CD40 ligand gene causes the simultaneous expression of two defective mRNA species in X-linked hyperimmunoglobulinemia M

1 reference

https://pubmed.ncbi.nlm.nih.gov/8914765

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8914765%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8914765%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

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