(Q24300813)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

title

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

Multiple EGF like domains 8

10 March 2020

main subject

1 reference

craniofacial suture morphogenesis

GOA release 2020-03-11

1 reference

Multiple EGF-like-domains 8

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Christopher D. Cooper

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Samantha J.L. Knight

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Opher Gileadi

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Simon J McGowan

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

Andrew Oliver Mungo Wilkie

10 March 2020

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

12

Bernard D Keavney

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

11

Judith A Goodship

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

author name string

Deborah Lloyd

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Dagan Jenkins

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Nursel E Elçioglu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Nouriya Al-Sannaa

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Ali Annagür

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Philip L Beales

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Gabriele Gillessen-Kaesbach

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

Irina Hüning

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

language of work or name

English

0 references

publication date

11 October 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

10 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

volume

91

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

page(s)

897-905

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

Rab23 negatively regulates Gli1 transcriptional factor in a Su(Fu)-dependent manner

10 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=3487118

SMART 7: recent updates to the protein domain annotation resource

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Acrocephaly, with other Congenital Malformations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Exome sequencing identifies the cause of a mendelian disorder

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

A systematic approach to mapping recessive disease genes in individuals from outbred populations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Functional dissection of Rab GTPases involved in primary cilium formation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Crystal structure of human epidermal growth factor and its dimerization

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Crystal structure of three consecutive laminin-type epidermal growth factor-like (LE) modules of laminin gamma1 chain harboring the nidogen binding site

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

The Sequence Alignment/Map format and SAMtools

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Mouse model of heterotaxy with single ventricle spectrum of cardiac anomalies

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Crystal structure of the Kelch domain of human Keap1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Identification of high-molecular-weight proteins with multiple EGF-like motifs by motif-trap screening

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Gli3Xt-J/Xt-J mice exhibit lambdoid suture craniosynostosis which results from altered osteoprogenitor proliferation and differentiation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Mouse Rab23 regulates hedgehog signaling from smoothened to Gli proteins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Rab23 is an essential negative regulator of the mouse Sonic hedgehog signalling pathway

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Open brain, a new mouse mutant with severe neural tube defects, shows altered gene expression patterns in the developing spinal cord

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Rabs and other small GTPases in ciliary transport

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Mahoganoid and mahogany mutations rectify the obesity of the yellow mouse by effects on endosomal traffic of MC4R protein

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Differential role of Rab proteins in ciliary trafficking: Rab23 regulates smoothened levels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

NRF2 and KEAP1 mutations: permanent activation of an adaptive response in cancer

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Shh and Gli3 are dispensable for limb skeleton formation but regulate digit number and identity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Carpenter's syndrome: Acrocephalopolysyndactyly. An autosomal recessive syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Loss-of-Function of Gli3 in Mice Causes Abnormal Frontal Bone Morphology and Premature Synostosis of the Interfrontal Suture

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Dorsal and lateral fates in the mouse neural tube require the cell-autonomous activity of the open brain gene

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Indian hedgehog positively regulates calvarial ossification and modulates bone morphogenetic protein signaling

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

High throughput production of recombinant human proteins for crystallography

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Calcium binding activity of the epidermal growth factor-like domains of the apicomplexan microneme protein EtMIC4.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487118

Conserved solvent and side-chain interactions in the 1.35 Angstrom structure of the Kelch domain of Keap1

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23063620

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2012.08.027

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

PubMed publication ID

23063620

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23063620%20AND%20SRC:MED&resulttype=core&format=json