(Q24302095)

GOA release 2020-03-11

author

Giulio Superti-Furga

29

0 references

Anne Dell

33

0 references

Julia von Blume

32

Julia von Blume

0 references

Elisabeth Salzer

Elisabeth Salzer

3

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Nima Rezaei

Nima Rezaei

26

0 references

Josef Penninger

Josef M Penninger

30

0 references

Johannes W Bigenzahn

Johannes W Bigenzahn

Christine Bellanné-Chantelot

17

0 references

28

Christine Bellanné-Chantelot

0 references

Cecilia Domínguez Conde

Cecilia Domínguez Conde

20

0 references

Roberto Giambruno

Roberto Giambruno

16

0 references

Kaan Boztug

Kaan Boztug

1

0 references

Alejandro A Schäffer

8

Alejandro A Schäffer

0 references

Keiryn L Bennett

31

Keiryn L Bennett

0 references

Karl Heinrich Welte

22

Karl Welte

0 references

Jean Donadieu

34

Jean Donadieu

0 references

Jacek Puchalka

12

Jacek Puchałka

0 references

Ulrich Elling

18

Ulrich Elling

0 references

Giridharan Appaswamy

14

Giridharan Appaswamy

0 references

Aristotelis Antonopoulos

9

Aristotelis Antonopoulos

0 references

Brigitte Lescoeur

15

Brigitte Lescoeur

0 references

Wojciech Garncarz

6

Wojciech Garncarz

0 references

Jana Diestelhorst

13

Jana Diestelhorst

0 references

author name string

Päivi M Järvinen

2

0 references

Tomas Racek

4

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Sebastian Mönch

5

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E Michael Gertz

7

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Stuart M Haslam

10

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Lena Schieck

11

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Dietmar Pfeifer

19

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Michael H Albert

21

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Gudrun Brandes

23

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Roya Sherkat

24

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Jutte van der Werff Ten Bosch

25

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Amos Etzioni

27

0 references

Christoph Klein

describes a project that uses

35

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language of work or name

English

0 references

publication date

September 2014

0 references

published in

Nature Genetics

0 references

volume

46

0 references

issue

9

0 references

page(s)

1021-7

0 references

Cytoscape

1 reference

Europe PubMed Central

9 June 2022

https://europepmc.org/search?query=(METHODS:'Cytoscape')

based on heuristic

inferred from PubMed Central ID database lookup

ImageJ

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4829076/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

on focus list of Wikimedia project

ScienceSource

0 references

cites work

Viral immune modulators perturb the human molecular network by common and unique strategies

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G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction

19 March 2017

1 reference

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Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase-beta-deficient neutrophils in a congenital neutropenia syndrome

19 March 2017

1 reference

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A homozygous CARD9 mutation in a family with susceptibility to fungal infections

19 March 2017

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A syndrome with congenital neutropenia and mutations in G6PC3

19 March 2017

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A second generation human haplotype map of over 3.1 million SNPs

19 March 2017

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Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2

19 March 2017

1 reference

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Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

19 March 2017

1 reference

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Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

19 March 2017

1 reference

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Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

19 March 2017

1 reference

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Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

19 March 2017

1 reference

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ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids

19 March 2017

1 reference

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A method and server for predicting damaging missense mutations

19 March 2017

1 reference

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Clustal W and Clustal X version 2.0

19 March 2017

1 reference

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The Sec1p/Munc18 protein Vps45p binds its cognate SNARE proteins via two distinct modes.

19 March 2017

1 reference

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The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy

19 March 2017

1 reference

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Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes

19 March 2017

2 references

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19 March 2017

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HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

24 March 2017

1 reference

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Affordable image analysis using NIH Image/ImageJ

19 March 2017

1 reference

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Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria

19 March 2017

1 reference

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OLAV: towards high-throughput tandem mass spectrometry data identification

19 March 2017

1 reference

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Jagunal homolog 1 is a critical regulator of neutrophil function in fungal host defense

19 March 2017

1 reference

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

19 March 2017

1 reference

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

7 April 2017

1 reference

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Fast and accurate long-read alignment with Burrows-Wheeler transform

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4829076

Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4829076

A congenital neutrophil defect syndrome associated with mutations in VPS45.

27 September 2017

1 reference

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ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology

27 September 2017

1 reference

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Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27.

27 September 2017

1 reference

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Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4829076

Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4829076

Structural characterisation of neutrophil glycans by ultra sensitive mass spectrometric glycomics methodology

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4829076

Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4829076

Jagunal is required for reorganizing the endoplasmic reticulum during Drosophila oogenesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4829076

Glycomic profiling of cells and tissues by mass spectrometry: fingerprinting and sequencing methodologies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4829076

Neutrophil elastase in cyclic and severe congenital neutropenia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4829076

Severe congenital neutropenia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4829076

ER-to-Golgi transport: COP I and COP II function (Review).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4829076

The Sec1p/Munc18 (SM) protein, Vps45p, cycles on and off membranes during vesicle transport

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4829076

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4829076

Accounting for human polymorphisms predicted to affect protein function

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4829076

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4829076

The membrane-distal cytoplasmic region of human granulocyte colony-stimulating factor receptor is required for STAT3 but not STAT1 homodimer formation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4829076

A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4829076

A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.

27 September 2017

1 reference

A method to resolve the composition of heterogeneous affinity-purified protein complexes assembled around a common protein by chemical cross-linking, gel electrophoresis and mass spectrometry.

21 January 2018

1 reference

Evidence for the glycosylation of the granulocyte colony-stimulating factor receptor.

21 January 2018

1 reference

The hyper-IgE syndrome is not caused by a microdeletion syndrome

21 January 2018

1 reference

Exact genetic linkage computations for general pedigrees.

21 January 2018

1 reference

Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4829076

Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25129144