(Q36522778)

14 August 2017

Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology (English)

1 reference

14 August 2017

1 reference

phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)

1 reference

1 reference

Collagen, type II, alpha 1

1 reference

Tumor necrosis factor (ligand) superfamily, member 11

1 reference

HYDIN, axonemal central pair apparatus protein

1 reference

Protein kinase, interferon inducible double stranded RNA dependent activator

1 reference

DEAD box helicase 10

1 reference

SRY (sex determining region Y)-box 9

1 reference

Matrix metallopeptidase 14 (membrane-inserted)

1 reference

Fibroblast growth factor receptor 1

1 reference

Bone morphogenetic protein 5

1 reference

LIM motif-containing protein kinase 2

1 reference

author

Mohamed G Hassan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26234751%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

author name string

Kristina Palmer

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26234751%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Heather Fairfield

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26234751%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Suhaib Borgeia

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26234751%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Michelle Curtain

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26234751%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Louise Dionne

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26234751%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Son Yong Karst

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26234751%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Harold Coombs

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26234751%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Roderick T Bronson

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26234751%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Laura G Reinholdt

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26234751%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

David E Bergstrom

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26234751%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Leah Rae Donahue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26234751%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Timothy C Cox

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26234751%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Stephen A Murray

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26234751%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

language of work or name

English

0 references

publication date

30 July 2015

1 reference

14 August 2017

12

1 reference

based on heuristic

inferred from page(s)

published in

Developmental Biology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26234751%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

415

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26234751%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26234751%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

216-227

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26234751%20AND%20SRC:MED&resulttype=core&format=json

The role of purinergic signalling in the musculoskeletal system

31 May 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

A novel allele of Alx4 results in reduced Fgf10 expression and failure of eyelid fusion in mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

Identification of structural variation in mouse genomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

Innovations in phenotyping of mouse models in the German Mouse Clinic

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

Mouse genomic variation and its effect on phenotypes and gene regulation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

Mutation discovery in mice by whole exome sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

Integrative genomics viewer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

Disheveled hair and ear (Dhe), a spontaneous mouse Lmna mutation modeling human laminopathies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

A dosage-dependent requirement for Sox9 in pancreatic endocrine cell formation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

Sox9 is required for cartilage formation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

OPGL is a key regulator of osteoclastogenesis, lymphocyte development and lymph-node organogenesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

Conditional inactivation of Sox9: a mouse model for campomelic dysplasia.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

Parallels of craniofacial maldevelopment in Down syndrome and Ts65Dn mice.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

Dense incisors (din): a new mouse mutation on chromosome 16 affecting tooth eruption and body size

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4733616

Discovery Genetics - The History and Future of Spontaneous Mutation Research

21 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YDBIO.2015.07.023

The etiopathogenesis of cleft lip and cleft palate: usefulness and caveats of mouse models

7 January 2021

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YDBIO.2015.07.023

A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient

7 January 2021

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YDBIO.2015.07.023

10.1016/J.YDBIO.2015.07.023

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26234751%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26234751%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

PubMed publication ID

26234751

1 reference