(Q36775474)

16 August 2017

A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations (English)

1 reference

16 August 2017

Soo-Kyung Choi

1

1 reference

16 August 2017

Song-Ro Yoon

series ordinal

2

1 reference

16 August 2017

Peter Calabrese

series ordinal

3

1 reference

16 August 2017

Norman Arnheim

series ordinal

4

1 reference

16 August 2017

language of work or name

English

0 references

publication date

16 July 2008

1 reference

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

16 August 2017

1 reference

16 August 2017

105

1 reference

16 August 2017

29

1 reference

16 August 2017

10143-10148

1 reference

The molecular anatomy of spontaneous germline mutations in human testes

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

Genome-wide association study identifies novel breast cancer susceptibility loci

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

Age and sex effects on human mutation rates: an old problem with new complexities

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

Asymmetric and symmetric stem-cell divisions in development and cancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

Spermatogonial stem cells: questions, models and perspectives

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

Functions and regulations of fibroblast growth factor signaling during embryonic development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

Cellular signaling by fibroblast growth factor receptors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

Reproductive functions of the ageing male

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

29 September 2017

Male-driven evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

Germ cell selection in genetic mosaics in Drosophila melanogaster

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

The origins, patterns and implications of human spontaneous mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

Estimate of the mutation rate per nucleotide in humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

Pattern and kinetics of mouse donor spermatogonial stem cell colonization in recipient testes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

Birth prevalence, mutation rate, sex ratio, parents' age, and ethnicity in Apert syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

Spontaneous mutation and parental age in humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

Potential germline competition in animals and its evolutionary implications

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

Germline selection: population genetic aspects of the sexual/asexual life cycle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

2 The prenatal and postnatal development of the testis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

Oncogenic properties of the mutated forms of fibroblast growth factor receptor 3b.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

Mutation and selection within the individual.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

Birth prevalence study of the Apert syndrome

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential link.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

Detection of extremely rare alleles by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification (Bi-PAP-A): measurement of mutation load in mammalian tissues

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

Spermatogenesis in man: an estimate of its duration.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474563

The rate of spontaneous mutation of a human gene

5 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0801267105

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

21 January 2018

1 reference

12 December 2020

Balance of apoptosis and proliferation of germ cells related to spermatogenesis in aged men

1 reference

12 December 2020

Spermatogenesis in man. A study of the spermatogonial population

1 reference

12 December 2020

Effect of daily spermatozoan production but not age on transit time of spermatozoa through the human epididymis

1 reference

12 December 2020

Stereological evaluation of human spermatogenesis after suppression by testosterone treatment: heterogeneous pattern of spermatogenic impairment

1 reference

12 December 2020

The cycle of the seminiferous epithelium in man

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0801267105

1 reference

release_qnxbrnq4qfcgfhh4kgvh7vxaqq

16 August 2017

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/qnxbrnq4qfcgfhh4kgvh7vxaqq

24 November 2022

mapped directly with Wikidata item

1 reference

16 August 2017

PubMed publication ID

18632557

1 reference