(Q37230697)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

title

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

0 references

0 references

Guanine nucleotide binding protein (G protein), beta 5a

1 reference

GOA release 2020-03-11

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Pasquelena De Nittis

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Dario Cocciadiferro

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Teun P de Boer

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Marguerite Neerman-Arbez

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Jeroen Bakkers

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

23

Arthur A M Wilde

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

29

James R Lupski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

Zeynep Hande Coban Akdemir

21 March 2020

19

object named as

Zeynep Hande Coban Akdemir

1 reference

21 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

22

Ilham Ratbi

1 reference

21 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

30

Alexandre Reymond

1 reference

21 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

10

Leander Beekman

1 reference

21 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21

Mohammad K Eldomery

1 reference

21 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

12

Lamiae Boualla

1 reference

21 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

Charlotte D Koopman

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Wojciech Wiszniewski

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Carolina Fischinger Moura de Souza

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Najim Lahrouchi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Nicolas Guex

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Valerio Napolioni

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Federico Tessadori

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Eline A Nannenberg

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Nico A Blom

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Wim de Graaff

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Maarten Kamermans

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Natascia Malerba

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Barbara Mandriani

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Richard J Fish

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

William F Simonds

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

V Reid Sutton

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Fernando Kok

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Connie R Bezzina

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Giuseppe Merla

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

language of work or name

English

0 references

publication date

11 August 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

21 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

volume

99

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

page(s)

704-710

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

21 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

Evolutionary hierarchy of vertebrate-like heterotrimeric G protein families

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

Ablation of the GNB3 gene in mice does not affect body weight, metabolism or blood pressure, but causes bradycardia.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

Cones respond to light in the absence of transducin β subunit.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

Genetic locus on mouse chromosome 7 controls elevated heart rate

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

Methods for cell and particle tracking

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

Knockout of G protein β5 impairs brain development and causes multiple neurologic abnormalities in mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

A method and server for predicting damaging missense mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

Crystal structure of the multifunctional Gβ5–RGS9 complex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

Novel Form of Adaptation in Mouse Retinal Rods Speeds Recovery of Phototransduction

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

A novel kind of G protein heterodimer: the G beta5-RGS complex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

Predicting deleterious amino acid substitutions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

Gene and genome duplications in vertebrates: the one-to-four (-to-eight in fish) rule and the evolution of novel gene functions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

Gbeta5 recruits R7 RGS proteins to GIRK channels to regulate the timing of neuronal inhibitory signaling.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

GHRH excess and blockade in X-LAG syndrome.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

RGS6, a modulator of parasympathetic activation in heart.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

A fifth member of the mammalian G-protein beta-subunit family. Expression in brain and activation of the beta 2 isotype of phospholipase C.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

RGS6/Gβ5 complex accelerates IKACh gating kinetics in atrial myocytes and modulates parasympathetic regulation of heart rate

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

Gbeta5 is required for normal light responses and morphology of retinal ON-bipolar cells.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

Mutation in the guanine nucleotide-binding protein beta-3 causes retinal degeneration and embryonic mortality in chickens

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

The 825C/T polymorphism of G-protein beta3 subunit gene and risk of ischaemic stroke

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5010642

The G-protein betagamma complex

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27523599

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

GNB3 C825T polymorphism is associated with postural tachycardia syndrome in children

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27523599

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27523599

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2016.06.025

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27523599%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

PubMed publication ID

27523599

1 reference