(Q37193908)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23740942%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

title

New evidence for positive selection helps explain the paternal age effect observed in achondroplasia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23740942%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23740942%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

author name string

Deepali N Shinde

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23740942%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Dominik P Elmer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23740942%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Peter Calabrese

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23740942%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Jérôme Boulanger

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23740942%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Norman Arnheim

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23740942%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

publication date

4 June 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23740942%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23740942%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23740942%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

issue

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23740942%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

page(s)

4117-4126

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23740942%20AND%20SRC:MED&resulttype=core&format=json

Estimating the human mutation rate using autozygosity in a founder population

2 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=3781639

Rate of de novo mutations and the importance of father's age to disease risk

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Selfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly men

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Massively parallel haplotyping on microscopic beads for the high-throughput phase analysis of single molecules

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Upsetting the dogma: germline selection in human males

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Positive selection for new disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human 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=3781639

Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Variation in genome-wide mutation rates within and between human 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=3781639

BAX and tumor suppressor TRP53 are important in regulating mutagenesis in spermatogenic cells 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=3781639

Physical basis behind achondroplasia, the most common form of human dwarfism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Product length, dye choice, and detection chemistry in the bead-emulsion amplification of millions of single DNA molecules in parallel

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Understanding what determines the frequency and pattern of human germline 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=3781639

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease 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=3781639

Regulation of spermatogonial stem cell self-renewal in mammals

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

The molecular anatomy of spontaneous germline mutations in human testes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism in human testis biopsies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Spermatogonial stem cells: questions, models and perspectives

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Accurate multiplex polony sequencing of an evolved bacterial genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Cellular signaling by fibroblast growth factor receptors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

The origins, patterns and implications of human spontaneous 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=3781639

Estimate of the mutation rate per nucleotide in humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Clinical spectrum of fibroblast growth factor receptor 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=3781639

Mutation frequency declines during spermatogenesis in young mice but increases in old 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=3781639

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Achondroplasia is defined by recurrent G380R mutations of FGFR3

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Spontaneous mutation and parental age in humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Decrease in the number of human Ap and Ad spermatogonia and in the Ap/ Ad ratio with advancing age. New data on the spermatogonial stem cell

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Biological basis of germline mutation: comparisons of spontaneous germline mutation rates among drosophila, mouse, and human

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Birth prevalence rates of skeletal dysplasias.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

BEAMing up for detection and quantification of rare sequence variants.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Spermatogenesis in man: an estimate of its duration.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3781639

Preserved fertility in a non-mosaic Klinefelter patient with a mutation in the fibroblast growth factor receptor 3 gene: Case Report

3 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDT260

Genetic reconstruction of mouse spermatogonial stem cell self-renewal in vitro by Ras-cyclin D2 activation

21 January 2018

1 reference

12 December 2020

Mouse germ line stem cells undergo rapid and stochastic turnover

1 reference

12 December 2020

Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta

1 reference

12 December 2020

Spermatogenesis and aging in the human

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDT260

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23740942%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23740942%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23740942%20AND%20SRC:MED&resulttype=core&format=json