Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline (Q37395153)

20 August 2017

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline (English)

1 reference

20 August 2017

1 reference

Andrew Oliver Mungo Wilkie

20 August 2017

1 reference

20 August 2017

Ewa Rajpert-De Meyts

0 references

Eleni Giannoulatou

0 references

Zamin Iqbal

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Simon J McGowan

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Isaac Turner

0 references

Anne Goriely

0 references

Indira B Taylor

1 reference

20 August 2017

Geoffrey J Maher

1 reference

20 August 2017

Susanne P Pfeifer

1 reference

20 August 2017

Emma M M Burkitt Wright

1 reference

20 August 2017

Jennifer Shorto

1 reference

20 August 2017

Aysha Itani

1 reference

20 August 2017

Karen Turner

1 reference

20 August 2017

Lorna Gregory

1 reference

20 August 2017

David Buck

1 reference

20 August 2017

Leendert H J Looijenga

1 reference

20 August 2017

Bronwyn Kerr

1 reference

20 August 2017

language of work or name

English

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publication date

20 November 2013

1 reference

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

20 August 2017

1 reference

20 August 2017

110

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20 August 2017

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20 August 2017

20152-20157

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Signatures of mutational processes in human cancer

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864328

New evidence for positive selection helps explain the paternal age effect observed in 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=3864328

Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864328

Properties and rates of germline mutations 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=3864328

Ageing of 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=3864328

Whole-genome sequencing in autism identifies hot spots for de novo germline 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=3864328

An integrated map of genetic variation from 1,092 human genomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864328

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=3864328

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=3864328

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=3864328

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=3864328

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=3864328

Pervasive Multinucleotide Mutational Events in Eukaryotes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864328

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864328

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=3864328

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=3864328

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=3864328

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=3864328

Germline mutations in HRAS proto-oncogene cause Costello syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864328

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=3864328

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=3864328

Oxidative DNA damage induced by copper and hydrogen peroxide promotes CG-->TT tandem mutations at methylated CpG dinucleotides in nucleotide excision repair-deficient cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864328

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=3864328

The Ras-RasGAP Complex: Structural Basis for GTPase Activation and Its Loss in Oncogenic Ras Mutants

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864328

A point mutation is responsible for the acquisition of transforming properties by the T24 human bladder carcinoma oncogene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864328

Analysis of the transforming potential of the human H-ras gene by random mutagenesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864328

Mechanism of activation of a human oncogene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864328

Biochemical characterization of polypeptides encoded by mutated human Ha-ras1 genes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864328

De novo assembly and genotyping of variants using colored de Bruijn graphs

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864328

Contribution of Taq polymerase-induced errors to the estimation of RNA virus diversity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864328

Biological properties of human c-Ha-ras1 genes mutated at codon 12.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864328

Biological and biochemical properties of human rasH genes mutated at codon 61.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864328

Patterns and mutational signatures of tandem base substitutions causing human inherited disease

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864328

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864328

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864328

Is cell competition relevant to cancer?

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864328

Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3864328

Evidence for a High Frequency of Simultaneous Double-Nucleotide Substitutions

2 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1311381110

Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1311381110

Mouse germ line stem cells undergo rapid and stochastic turnover

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Germline Dinucleotide Mutation in Codon 883 of theRETProto-Oncogene in Multiple Endocrine Neoplasia Type 2B Without Codon 918 Mutation

1 reference

12 December 2020

Paternal bias in parental origin of HRAS mutations in Costello syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.1311381110

1 reference

20 August 2017

0 references

1 reference

20 August 2017

PubMed publication ID

24259709

1 reference