(Q37808258)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21062271%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

Do ribosomopathies explain some cases of common variable immunodeficiency? (English)

1 reference

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16 January 2020

1

1 reference

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16 January 2020

author name string

J Pereira

2

1 reference

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16 January 2020

P J Darbyshire

3

1 reference

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16 January 2020

S Holding

4

1 reference

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16 January 2020

P C Doré

5

1 reference

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16 January 2020

W A C Sewell

6

1 reference

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16 January 2020

A Huissoon

7

1 reference

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16 January 2020

publication date

9 November 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21062271%20AND%20SRC:MED&resulttype=core&format=json

Clinical and Experimental Immunology

16 January 2020

published in

1 reference

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16 January 2020

volume

163

1 reference

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16 January 2020

issue

1

1 reference

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16 January 2020

page(s)

96-103

1 reference

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Ribosomopathies: human disorders of ribosome dysfunction

16 January 2020

cites work

1 reference

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Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia

1 September 2018

1 reference

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Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Common variable immunodeficiency: a new look at an old disease.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

1 September 2018

1 reference

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TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Mutations in the SBDS gene in acquired aplastic anemia

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Unravelling the complexity of T cell abnormalities in common variable immunodeficiency.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Shwachman-Diamond syndrome: UK perspective

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

The identification of an internal ribosomal entry site in the 5'-untranslated region of p53 mRNA provides a novel mechanism for the regulation of its translation following DNA damage

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Diamond Blackfan anemia: A paradigm for a ribosome-based disease.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Ribosome dysfunction is an early event in Alzheimer's disease.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Chronic parvovirus infection and G6PD deficiency masquerading as Diamond-Blackfan anemia

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Many ribosomal protein genes are cancer genes in zebrafish

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Release of eIF6 (p27BBP) from the 60S subunit allows 80S ribosome assembly

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Immune function in patients with Shwachman-Diamond syndrome

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

T cell subsets and T cell function in cartilage-hair hypoplasia.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Common variable immunodeficiency with CD4+ T lymphocytopenia and overproduction of soluble IL-2 receptor associated with Turner's syndrome and dorsal kyphoscoliosis

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Failure of immunosuppressive therapy and high-dose intravenous immunoglobulins in four transfusion-dependent, steroid-unresponsive Blackfan-Diamond anemia patients

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Functional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Diamond-Blackfan anemia associated with Treacher-Collins syndrome

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Lymphocyte dysfunction in congenital hypoplastic anemia

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Immunoglobulins and the X-chromosome.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Intravenous gamma-globulin therapy in Diamond-Blackfan anemia.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Diagnosis of primary immunodeficiency: Let your eyes do the talking

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Involvement of the thymus and cellular immune system in craniofacial malformation syndromes

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3010916

Deficiency of humoral immunity in cartilage-hair hypoplasia

3 December 2018

1 reference

12 December 2020

Selective T-cell deficiency in Turner's syndrome

1 reference

12 December 2020

Celiac disease and Turner's syndrome: patient report

1 reference

12 December 2020

Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway

1 reference

12 December 2020

Serum immunoglobulins and lymphocyte subpopulations derangement in Turner's syndrome

1 reference

12 December 2020

Lymphocyte dysfunction in cartilage-hair hypoplasia: evidence for an intrinsic defect in cellular proliferation

1 reference

12 December 2020

[Chronic diarrhea with selective IgA deficit associated with Turner's syndrome]

1 reference

12 December 2020

Intravenous immunoglobulin in Diamond-Blackfan anaemia

1 reference

12 December 2020

Common variable immunodeficiency in association with Turner's syndrome

1 reference

12 December 2020

Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia

1 reference

12 December 2020

Use of rituximab to treat refractory Diamond-Blackfan anemia

1 reference

12 December 2020

Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency

1 reference

12 December 2020

10.1111/J.1365-2249.2010.04280.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21062271%20AND%20SRC:MED&resulttype=core&format=json

release_fzogvgug25emxk3lf3774hg6zu

16 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/fzogvgug25emxk3lf3774hg6zu

24 November 2022

mapped directly with Wikidata item

PMC publication ID

3010916

0 references

1 reference