The molecular anatomy of spontaneous germline mutations in human testes (Q33296043)

25 July 2017

title

The molecular anatomy of spontaneous germline mutations in human testes (English)

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25 July 2017

Irene Tiemann-Boege

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Jian Qin

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25 July 2017

Peter Calabrese

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25 July 2017

Deepali Narendra Shinde

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25 July 2017

Song-Ro Yoon

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25 July 2017

David Gelfand

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25 July 2017

Keith Bauer

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25 July 2017

Norman Arnheim

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25 July 2017

language of work or name

English

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publication date

1 September 2007

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25 July 2017

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25 July 2017

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25 July 2017

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25 July 2017

page(s)

e224

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Creative Commons Attribution 4.0 International

25 July 2017

start time

28 August 2007

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April 2022 Public Data File from Crossref

copyrighted

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cites work

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21 June 2018

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

21 June 2018

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Spermatogonial stem cells: questions, models and perspectives

21 June 2018

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

21 June 2018

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Functions and regulations of fibroblast growth factor signaling during embryonic development

21 June 2018

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Initial sequence of the chimpanzee genome and comparison with the human genome

21 June 2018

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Cellular signaling by fibroblast growth factor receptors

21 June 2018

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

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

21 June 2018

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

21 June 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=1951783

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

Strong male-driven evolution of DNA sequences in humans and apes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

Facile method for automated genotyping of single nucleotide polymorphisms by mass spectrometry

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

Germ cell selection in genetic mosaics in Drosophila melanogaster

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

The origins, patterns and implications of human spontaneous mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

Estimate of the mutation rate per nucleotide in humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

Mutation and selection within the individual.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

Quantification of germ cells and seminiferous tubules by stereological examination of testicles from 50 boys who suffered from sudden death

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

Morphological and histometric study of human spermatogonia from birth to the onset of puberty.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

Spontaneous mutation and parental age in humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

Potential germline competition in animals and its evolutionary implications

21 June 2018

1 reference

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Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia

21 June 2018

1 reference

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Increased germ cell degeneration during postprophase of meiosis is related to increased serum follicle-stimulating hormone concentrations and reduced daily sperm production in aged men.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

Birth prevalence study of the Apert syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

Spermatogenesis in man: an estimate of its duration.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

Apoptosis and proliferation of human testicular somatic and germ cells during prepuberty: high rate of testicular growth in newborns mediated by decreased apoptosis

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

Motility and the midpiece in primates

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

Pyrophosphorolysis-activated polymerization (PAP): application to allele-specific amplification

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

Renewal of spermatogonia in man

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1951783

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

31 October 2018

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

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

1 reference

12 December 2020

The cycle of the seminiferous epithelium in man

1 reference

12 December 2020

Spermatogenesis in man. A study of the spermatogonial population

1 reference

12 December 2020

10.1371/JOURNAL.PBIO.0050224

Identifiers

DOI

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25 July 2017

1 reference

25 July 2017

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