(Q33771007)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840724%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

title

Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840724%20AND%20SRC:MED&resulttype=core&format=json

Andrew Oliver Mungo Wilkie

10 January 2020

author

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840724%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Anne Goriely

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840724%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Ans van Pelt

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840724%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Dirk G de Rooij

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840724%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

2

Gilean A T McVean

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840724%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

author name string

Anthony W O'Rourke

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840724%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Steven A Wall

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840724%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

language of work or name

English

0 references

publication date

19 April 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840724%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

10 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840724%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

volume

102

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840724%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

page(s)

6051-6056

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840724%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

issue

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840724%20AND%20SRC:MED&resulttype=core&format=json

Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations

10 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=1087921

Isolation of male germ-line stem cells; influence of GDNF.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Growth factors essential for self-renewal and expansion of mouse spermatogonial stem cells

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Mutation spectral changes in spermatogenic cells obtained from old mice

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Problems of somatic mutation and cancer

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Parental age and mutation

4 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

4 July 2018

https://api.crossref.org/works/10.1073%2FPNAS.0500267102

The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

4 July 2018

Male-driven evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

FGFs, their receptors, and human limb malformations: clinical and molecular correlations

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Intestinal stem cells protect their genome by selective segregation of template DNA strands.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Establishment of cell lines with rat spermatogonial stem cell characteristics

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Uncoupling fibroblast growth factor receptor 2 ligand binding specificity leads to Apert syndrome-like phenotypes

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

The origins, patterns and implications of human spontaneous mutation

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Estimate of the mutation rate per nucleotide in humans

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Discrete cell- and stage-specific localisation of fibroblast growth factors and receptor expression during testis development

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Clinical variability in patients with Apert's syndrome.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Le Groupe d'Etude des Tumeurs a Calcitonine

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Exclusive paternal origin of new mutations in Apert syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Receptor specificity of the fibroblast growth factor family

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Clonal selection and learning in the antibody system

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Parent-of-origin effects in multiple endocrine neoplasia type 2B

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Spontaneous mutation and parental age in humans

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

Sequence analysis of fibroblast growth factor receptor 2 ( FGFR2 ) in Japanese patients with craniosynostosis

4 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0500267102

Localization of fibroblast growth factor 2 (FGF-2) protein and the receptors FGFR 1-4 in normal human seminiferous epithelium.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0500267102

Growth rate effects of mutations conferring streptomycin-dependence and of ancillary mutations in the rpsL gene of Escherichia coli: implications for the clustering (hypermutation) hypothesis for spontaneous mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0500267102

Genotype-phenotype correlation for nucleotide substitutions in the IgII- IgIII linker of FGFR2

21 January 2018

2 references

https://api.crossref.org/works/10.1073%2FPNAS.0500267102

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1087921

A novel mutation, Ala315Ser, in FGFR2: a gene–environment interaction leading to craniosynostosis?

30 October 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0500267102

Development. There's something curious about paternal-age effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0500267102

In vitro generation of long-term repopulating hematopoietic stem cells by fibroblast growth factor-1

21 January 2018

1 reference

12 December 2020

Cosegregation of chromosomes containing immortal DNA strands in cells that cycle with asymmetric stem cell kinetics

1 reference

12 December 2020

Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases

1 reference

12 December 2020

Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0500267102

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840724%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15840724%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference