(Q30383255)

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Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.

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Europe PubMed Central

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21 June 2017

Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis. (English)

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21 June 2017

familial hemophagocytic lymphohistiocytosis

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3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26739415%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

5

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10 June 2020

7

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10 June 2020

author name string

Lili Gao

1

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10 June 2020

Xiao Dang

2

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10 June 2020

Li Zhu

4

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10 June 2020

Jianguo Zhang

6

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10 June 2020

Lijun Zhu

8

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10 June 2020

Tongjuan Li

9

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10 June 2020

Lei Zhao

10

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10 June 2020

Jia Wei

11

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10 June 2020

Jianfeng Zhou

12

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10 June 2020

publication date

15 December 2015

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21 June 2017

Translational Research

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10 June 2020

170

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10 June 2020

26-39

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10 June 2020

Molecular basis of familial hemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Hemophagocytic lymphohistiocytosis and other hemophagocytic disorders

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Familial and acquired hemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Protocadherin-18 is a novel differentiation marker and an inhibitory signaling receptor for CD8+ effector memory T cells.

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Detection of necrosis by release of lactate dehydrogenase activity.

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Comparison of high resolution melting analysis, pyrosequencing, next generation sequencing and immunohistochemistry to conventional Sanger sequencing for the detection of p.V600E and non-p.V600E BRAF mutations

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Predicting deleterious amino acid substitutions

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

A method and server for predicting damaging missense mutations

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Human non-synonymous SNPs: server and survey

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

The FoldX web server: an online force field

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Blocking programmed death-1 ligand-PD-1 interactions by local gene therapy results in enhancement of antitumor effect of secondary lymphoid tissue chemokine

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Atypical features of familial hemophagocytic lymphohistiocytosis.

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

A proportion of patients with lymphoma may harbor mutations of the perforin gene.

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

A novel PRF1 gene mutation in a fatal neonate case with type 2 familial hemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Adult onset of primary hemophagocytic syndrome in subjects carrying PRF1 mutations

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

Fast kinase domain-containing protein 3 is a mitochondrial protein essential for cellular respiration

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

HoxA10 protein regulates transcription of gene encoding fibroblast growth factor 2 (FGF2) in myeloid cells

1 reference

https://api.crossref.org/works/10.1016%2FJ.TRSL.2015.12.004

7 January 2021

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10.1016/J.TRSL.2015.12.004

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26739415%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26739415%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

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