(Q50703043)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

title

A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Lukas Alfons Huber

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Ricardo A Dewey

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

16

Bodo Grimbacher

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

6

Alejandro A Schäffer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

author name string

Georg Bohn

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Anna Allroth

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Gudrun Brandes

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Jens Thiel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Erik Glocker

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Chozhavendan Rathinam

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Nicole Taub

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Cornelia Zeidler

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Robert Geffers

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Jan Buer

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Karl Welte

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Christoph Klein

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

language of work or name

English

0 references

publication date

31 December 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

page(s)

38-45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/nm1528

23 December 2019

exact match

0 references

cites work

Human primary immunodeficiency diseases: a perspective

1 reference

Linking albinism and immunity: the secrets of secretory lysosomes

21 January 2018

1 reference

Identification of the homologous beige and Chediak-Higashi syndrome genes

21 January 2018

1 reference

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome

21 January 2018

1 reference

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

The biogenesis of lysosomes

21 January 2018

1 reference

Role of the endocytic machinery in the sorting of lysosome-associated membrane proteins

21 January 2018

1 reference

The mechanisms of vesicle budding and fusion

21 January 2018

1 reference

Mannose 6-phosphate receptors: new twists in the tale

21 January 2018

1 reference

The biogenesis of multivesicular endosomes

21 January 2018

1 reference

Compartmentalized Ras/MAPK signaling

21 January 2018

1 reference

Coordinating ERK/MAPK signalling through scaffolds and inhibitors

21 January 2018

1 reference

A novel 14-kilodalton protein interacts with the mitogen-activated protein kinase scaffold mp1 on a late endosomal/lysosomal compartment

21 January 2018

1 reference

Localization of the MP1-MAPK scaffold complex to endosomes is mediated by p14 and required for signal transduction

21 January 2018

1 reference

Crystal structure of the p14/MP1 scaffolding complex: how a twin couple attaches mitogen-activated protein kinase signaling to late endosomes

21 January 2018

1 reference

Lymphocyte-mediated cytotoxicity.

21 January 2018

1 reference

Delivering the kiss of death

21 January 2018

1 reference

A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview

21 January 2018

1 reference

Recombinant human granulocyte colony-stimulating factor: effects on normal and leukemic myeloid cells

21 January 2018

1 reference

G-CSF is an essential regulator of neutrophil trafficking from the bone marrow to the blood

21 January 2018

1 reference

Receptor activation and 2 distinct COOH-terminal motifs control G-CSF receptor distribution and internalization kinetics

21 January 2018

1 reference

p14-MP1-MEK1 signaling regulates endosomal traffic and cellular proliferation during tissue homeostasis

21 January 2018

1 reference

Increased CCAAT enhancer-binding protein epsilon (C/EBPepsilon) expression and premature apoptosis in myeloid cells expressing Gfi-1 N382S mutant associated with severe congenital neutropenia

21 January 2018

1 reference

Defective lysosomal exocytosis and plasma membrane repair in Chediak-Higashi/beige cells.

21 January 2018

1 reference

Defective granule exocytosis in Rab27a-deficient lymphocytes from Ashen mice

21 January 2018

1 reference

Rab27a is required for regulated secretion in cytotoxic T lymphocytes

21 January 2018

1 reference

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

21 January 2018

1 reference

Avoiding recomputation in linkage analysis.

21 January 2018

1 reference

Comparative analysis of genetically modified dendritic cells and tumor cells as therapeutic cancer vaccines

21 January 2018

1 reference

A stable human-derived packaging cell line for production of high titer retrovirus/vesicular stomatitis virus G pseudotypes

21 January 2018

1 reference

Partial albinism with immunodeficiency (Griscelli syndrome)

21 January 2018

1 reference

7 January 2021

Kostmann syndrome: severe congenital neutropenia associated with defective expression of Bcl-2, constitutive mitochondrial release of cytochrome c, and excessive apoptosis of myeloid progenitor cells

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Ex vivo expansion of mature human neutrophils with normal functions from purified peripheral blood CD34+ haematopoietic progenitor cells

1 reference

7 January 2021

Identifiers

DOI

10.1038/NM1528

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17195838%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

1 reference