(Q24293635)

25 June 2017

title

Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia (English)

1 reference

cellular response to forskolin

25 June 2017

1 reference

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

1 reference

19

Eric J Topol

Eric J

Topol

1 reference

PubMed

19 October 2023

14

Glenn Oliveira

Glenn

Oliveira

1 reference

25 June 2017

23

Nicholas J Schork

Nicholas J

Schork

1 reference

25 June 2017

25

Ali Torkamani

Ali

Torkamani

1 reference

25 June 2017

18

Samuel Levy

Samuel

Levy

1 reference

25 June 2017

Ying-Zhang Chen

1

Ying-Zhang

Chen

1 reference

25 June 2017

Jennifer R Friedman

2

Jennifer R

Friedman

1 reference

25 June 2017

Dong-Hui Chen

3

Dong-Hui

Chen

1 reference

25 June 2017

Guy C-K Chan

4

Guy C-K

Chan

1 reference

25 June 2017

Cinnamon S Bloss

5

Cinnamon S

Bloss

1 reference

25 June 2017

Fuki M Hisama

6

Fuki M

Hisama

1 reference

25 June 2017

Sarah E Topol

7

Sarah E

Topol

1 reference

25 June 2017

Andrew R Carson

8

Andrew R

Carson

1 reference

25 June 2017

Phillip H Pham

9

Phillip H

Pham

1 reference

25 June 2017

Emily S Bonkowski

10

Emily S

Bonkowski

1 reference

25 June 2017

Erick R Scott

11

Erick R

Scott

1 reference

25 June 2017

Janel K Lee

12

Janel K

Lee

1 reference

25 June 2017

Guangfa Zhang

13

Guangfa

Zhang

1 reference

25 June 2017

Jian Xu

15

Jian

Xu

1 reference

25 June 2017

Ashley A Scott-Van Zeeland

16

Ashley A

Scott-Van Zeeland

1 reference

25 June 2017

Qi Chen

17

Qi

Chen

1 reference

25 June 2017

Daniel Storm

20

Daniel

Storm

1 reference

25 June 2017

Phillip D Swanson

21

Phillip D

Swanson

1 reference

25 June 2017

Thomas D Bird

22

Thomas D

Bird

1 reference

25 June 2017

Wendy H Raskind

24

Wendy H

Raskind

1 reference

25 June 2017

language of work or name

English

0 references

publication date

13 March 2014

1 reference

25 June 2017

1 reference

25 June 2017

volume

75

1 reference

25 June 2017

issue

4

1 reference

25 June 2017

page(s)

542-549

1 reference

describes a project that uses

25 June 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4457323/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

An integrated map of genetic variation from 1,092 human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

A second generation human haplotype map of over 3.1 million SNPs

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

Molecular details of cAMP generation in mammalian cells: a tale of two systems

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

Cytosolic adenylyl cyclase defines a unique signaling molecule in mammals

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

Interaction of the two cytosolic domains of mammalian adenylyl cyclase

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

Motor dysfunction in type 5 adenylyl cyclase-null mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

Recent segmental duplications in the human genome

19 March 2017

1 reference

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Actionable, pathogenic incidental findings in 1,000 participants' exomes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

Genic intolerance to functional variation and the interpretation of personal genomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

Functional interactions between Fat family cadherins in tissue morphogenesis and planar polarity.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

CHRNA3/5, IREB2, and ADCY2 are associated with severe chronic obstructive pulmonary disease in Poland

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

Capturing adenylyl cyclases as potential drug targets

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

Loss of modifier of cell adhesion reveals a pathway leading to axonal degeneration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

Class III adenylyl cyclases: molecular mechanisms of catalysis and regulation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

MOCA induces membrane spreading by activating Rac1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

M-channels: neurological diseases, neuromodulation, and drug development.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

Familial essential ("benign") chorea

27 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

27 September 2017

Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

Differential expression of type I, II, and V adenylyl cyclase gene in the postnatal developing rat brain.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

2 Cellular responsiveness to hormones and neutrotransmitters: Conversion of 3HAdenine to 3HcAMP in cell monolayers, cell suspensions, and tissue slices

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

Additional information on familial essential (benign) chorea

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

Hippocampal neurons express a calcineurin-activated adenylyl cyclase.

30 May 2018

1 reference

Crossref

Genetic variation of the adenylyl cyclase 3 (AC3) locus and its influence on type 2 diabetes and obesity susceptibility in Swedish men.

21 January 2018

1 reference

Crossref

Additional information on familial essential (benign) chorea

21 January 2018

1 reference

Crossref

Type-specific regulation of adenylyl cyclase. Selective pharmacological stimulation and inhibition of adenylyl cyclase isoforms

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457323

29 November 2018

Identifiers

DOI

10.1002/ANA.24119

1 reference

release_kzi7fqh7rrf3hftpmudlvr63le

25 June 2017

Fatcat ID

0 references

OpenCitations bibliographic resource ID

2411343

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2411343

1 reference