(Q34768417)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

title

Loss-of-function mutations in RAB18 cause Warburg micro syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

RAB18B, member RAS oncogene family

27 January 2020

main subject

1 reference

GOA release 2020-03-11

author

William B. Dobyns

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Ricardo Nunes-Bastos

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Mark T Handley

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Yavor Hadzhiev

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Paul Gissen

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Eamonn R Maher

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Francis A. Barr

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

author name string

Danai Bem

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Shin-Ichiro Yoshimura

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Frances C Bond

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Manju A Kurian

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Fatima Rahman

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Imran Masood

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Ania A Straatman-Iwanowska

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Andrew R Cullinane

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Alisdair McNeill

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Shanaz S Pasha

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Gail A Kirby

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Katharine Foster

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Zubair Ahmed

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Jenny E Morton

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Denise Williams

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

John M Graham

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Lydie Burglen

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

John R Ainsworth

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Ferenc Müller

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Irene A Aligianis

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

language of work or name

English

0 references

publication date

1 April 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

27 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

volume

88

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

page(s)

499-507

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome

27 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Establishment and characterization of a new human pancreatic adenocarcinoma cell line with high metastatic potential to the lung

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Cholesterol involvement in the pathogenesis of neurodegenerative diseases.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Rab GTPases as coordinators of vesicle traffic

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

A role for lipid droplets in inter-membrane lipid traffic

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

MicroRNA miR-21 overexpression in human breast cancer is associated with advanced clinical stage, lymph node metastasis and patient poor prognosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Rab18 and Rab43 have key roles in ER-Golgi trafficking

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Analysis of Rab GTPase and GTPase-activating protein function at primary cilia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Rab-regulated membrane traffic between adiposomes and multiple endomembrane systems

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Analysis of GTPase-activating proteins: Rab1 and Rab43 are key Rabs required to maintain a functional Golgi complex in human cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Specific Rab GTPase-activating proteins define the Shiga toxin and epidermal growth factor uptake pathways

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Rab18 inhibits secretory activity in neuroendocrine cells by interacting with secretory granules

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Warburg Micro syndrome in a Turkish boy.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

A molecular correlate to the Gleason grading system for prostate adenocarcinoma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Regulated localization of Rab18 to lipid droplets: effects of lipolytic stimulation and inhibition of lipid droplet catabolism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Rab18 localizes to lipid droplets and induces their close apposition to the endoplasmic reticulum-derived membrane

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Identification of novel growth factor-responsive genes in neuroendocrine gastrointestinal tumour cells.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Rab proteins as membrane organizers

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Micro syndrome in Muslim Pakistan children

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

The small GTP-binding protein Rab3A regulates a late step in synaptic vesicle fusion

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

The role of Rab3A in neurotransmitter release.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Cloning and subcellular localization of novel rab proteins reveals polarized and cell type-specific expression

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Characterization of Rab18, a lipid droplet-associated small GTPase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

Rab GTPases containing a CAAX motif are processed post-geranylgeranylation by proteolysis and methylation.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

MICRO syndrome: an entity distinct from COFS syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071920

A GTPase-activating protein controls Rab5 function in endocytic trafficking

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21473985

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Rab GTPases at a glance

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21473985

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Rab18 is reduced in pituitary tumors causing acromegaly and its overexpression reverts growth hormone hypersecretion

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21473985

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.03.012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473985%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference