Student or educator? Sign up with your school email and get 6 months of Pro free.
CoChat
Sign Up
Cited by 325

The DOI matches its Crossref record; 39 of the 39 references it cites were found in a registry or an index.

The phenotype of human STK4 deficiency

Abdollahpour, Hengameh, Appaswamy, Giridharan, Kotlarz, Daniel, Diestelhorst, Jana, Beier, Rita, Schäffer, Alejandro A., Gertz, E. Michael, Schambach, Axel, Kreipe, Hans H., Pfeifer, Dietmar, Engelhardt, Karin R., Rezaei, Nima, Grimbacher, Bodo, Lohrmann, Sabine, Sherkat, Roya, Klein, Christoph·2012·Blood
DOI 10.1182/blood-2011-09-378158
Open this paper in CoChat — free account

Abstract

We describe a novel clinical phenotype associating T- and B-cell lymphopenia, intermittent neutropenia, and atrial septal defects in 3 members of a consanguineous kindred. Their clinical histories included recurrent bacterial infections, viral infections, mucocutaneous candidiasis, cutaneous warts, and skin abscesses. Homozygosity mapping and candidate gene sequencing revealed a homozygous premature termination mutation in the gene STK4 (serine threonine kinase 4, formerly having the symbol MST1). STK4 is the human ortholog of Drosophila Hippo, the central constituent of a highly conserved pathway controlling cell growth and apoptosis. STK4-deficient lymphocytes and neutrophils exhibit enhanced loss of mitochondrial membrane potential and increased susceptibility to apoptosis. STK4 deficiency is a novel human primary immunodeficiency syndrome.

Overview

Integrity signals

Registry

Crossref · 10.1182/blood-2011-09-378158

Cites

39 of 39 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Verification

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Citations

Cites

Cited by

See all 325

Metadata

Authors
Abdollahpour, H., Appaswamy, G., Kotlarz, D., Diestelhorst, J., Beier, R., Schäffer, A. A., Gertz, E. M., Schambach, A., Kreipe, H. H., Pfeifer, D., Engelhardt, K. R., Rezaei, N., Grimbacher, B., Lohrmann, S., Sherkat, R., & Klein, C.
Affiliations
  • Department of Pediatric Hematology/Oncology, Hannover Medical School, Hannover, Germany;
  • National Center for Biotechnology Information, National Institutes of Health, Department of Health and Human Services, Bethesda, MD;
  • Department of Experimental Hematology, Hannover Medical School, Hannover, Germany;
  • Institute of Pathology, Hannover Medical School, Hannover, Germany;
  • Department of Hematology/Oncology, Core Facility II Genomics, Freiburg University Medical Center, Freiburg, Germany;
  • Department of Immunology and Molecular Pathology, Royal Free Hospital & University College London, London, United Kingdom;
  • Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran;
  • Department of Pediatric Cardiology, Hannover Medical School, Hannover, Germany; and
  • Infectious Diseases Research Center, Department of Infectious Diseases, Isfahan University of Medical Sciences, Isfahan, Iran
Venue
Blood
Publisher
American Society of Hematology
Published
2012-04-12
Volume
119
Issue
15
Pages
3450-3457
ISSN
  • 0006-4971
  • 1528-0020
DOI
10.1182/blood-2011-09-378158
Cited by
325
References
39
Language
en

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Data sources

Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.