(Q24656074)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

case report

0 references

title

Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Gillian Griffiths

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Maurizio Aricò

1 reference

ORCID Public Data File 2021

author name string

A Santoro

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

S Cannella

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

G Bossi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

F Gallo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

A Trizzino

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

D Pende

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

G Bruno

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

J C Stinchcombe

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

C Micalizzi

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

C De Fusco

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

C Danesino

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

L Moretta

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

L D Notarangelo

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

M Aricò

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

language of work or name

English

0 references

publication date

6 July 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

26 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

volume

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

page(s)

953-960

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.

26 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Familial haemophagocytic reticulosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Linking albinism and immunity: the secrets of secretory lysosomes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Modern management of children with haemophagocytic lymphohistiocytosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Pathogenesis of haemophagocytic lymphohistiocytosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Mammalian Unc-13 homologues as possible regulators of neurotransmitter release

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Hemophagocytic lymphohistiocytosis. Report of 122 children from the International Registry. FHL Study Group of the Histiocyte Society.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Natural cytotoxicity impairment in familial haemophagocytic lymphohistiocytosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Correlation between phenotypic heterogeneity and gene mutational characteristics in familial hemophagocytic lymphohistiocytosis (FHL).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Haematopoietic stem cell transplantation in haemophagocytic lymphohistiocytosis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Munc13-4 is a GTP-Rab27-binding protein regulating dense core granule secretion in platelets.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563207

Familial hemophagocytic lymphohistiocytosis: how late can the onset be?

28 November 2018

1 reference

12 December 2020

Hemophagocytic lymphohistiocytosis is associated with deficiencies of cellular cytolysis but normal expression of transcripts relevant to killer-cell-induced apoptosis

1 reference

12 December 2020

Familial hemophagocytic lymphohistiocytosis

1 reference

12 December 2020

Impaired natural killer activity in lymphohistiocytosis syndrome

1 reference

12 December 2020

Diagnostic guidelines for hemophagocytic lymphohistiocytosis. The FHL Study Group of the Histiocyte Society

1 reference

12 December 2020

Treatment of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins, steroids, and cyclosporin A

1 reference

12 December 2020

Treatment of familial hemophagocytic lymphohistiocytosis with bone marrow transplantation from HLA genetically nonidentical donors

1 reference

12 December 2020

Improved outcome in haemophagocytic lymphohistiocytosis after bone marrow transplantation from related and unrelated donors: a single-centre experience of 12 patients

1 reference

12 December 2020

Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions

1 reference

12 December 2020

Secretory Lysosome Biogenesis in Cytotoxic T Lymphocytes from Normal and Chediak Higashi Syndrome Patients

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2006.041863

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16825436%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

2 references