(Q34870957)

5 August 2017

title

Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia (English)

1 reference

5 August 2017

1 reference

9

Erwin W Gelfand

1 reference

5 August 2017

8

Hans D Ochs

1 reference

5 August 2017

15

Luigi D Notarangelo

1 reference

5 August 2017

author name string

Miguel A de la Fuente

1

1 reference

5 August 2017

Mike Recher

2

1 reference

5 August 2017

Nicholas L Rider

3

1 reference

5 August 2017

Kevin A Strauss

4

1 reference

5 August 2017

D Holmes Morton

5

1 reference

5 August 2017

Margaret Adair

6

1 reference

5 August 2017

Francisco A Bonilla

7

1 reference

5 August 2017

Itai M Pessach

10

1 reference

5 August 2017

Jolan E Walter

11

1 reference

5 August 2017

Alejandra King

12

1 reference

5 August 2017

Silvia Giliani

13

1 reference

5 August 2017

Sung-Yun Pai

14

1 reference

5 August 2017

language of work or name

English

0 references

publication date

13 May 2011

1 reference

The Journal of Allergy and Clinical Immunology

5 August 2017

published in

1 reference

5 August 2017

volume

128

1 reference

5 August 2017

issue

1

1 reference

5 August 2017

page(s)

139-146

1 reference

Ribosomopathies: human disorders of ribosome dysfunction

5 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287238

An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287238

Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287238

Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287238

Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287238

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287238

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287238

The Saccharomyces cerevisiae RNase mitochondrial RNA processing is critical for cell cycle progression at the end of mitosis.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287238

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287238

Cartilage-hair hypoplasia syndrome: increased apoptosis of T lymphocytes is associated with altered expression of Fas (CD95), FasL (CD95L), IAP, Bax, and Bcl2.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287238

p53-dependent cell cycle control: response to genotoxic stress

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287238

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287238

Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287238

Refined characterization and reference values of the pediatric T- and B-cell compartments

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287238

Bone marrow transplantation for cartilage-hair-hypoplasia.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287238

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287238

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287238

Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21570718

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Defective expression of early activation genes in cartilage-hair hypoplasia (CHH) with severe combined immunodeficiency (SCID)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21570718

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21570718

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JACI.2011.03.042

1 reference

5 August 2017

1 reference

5 August 2017

1 reference