(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

2

1 reference

Andrew Oliver Mungo Wilkie

20 August 2017

18

1 reference

20 August 2017

15

Ewa Rajpert-De Meyts

0 references

Eleni Giannoulatou

Eleni Giannoulatou

1

0 references

Zamin Iqbal

Zamin Iqbal

6

0 references

Simon J McGowan

Simon J McGowan

4

0 references

Isaac Turner

Isaac Turner

8

0 references

Anne Goriely

Anne Goriely

19

0 references

author name string

Indira B Taylor

3

1 reference

20 August 2017

Geoffrey J Maher

5

1 reference

20 August 2017

Susanne P Pfeifer

7

1 reference

20 August 2017

Emma M M Burkitt Wright

9

1 reference

20 August 2017

Jennifer Shorto

10

1 reference

20 August 2017

Aysha Itani

11

1 reference

20 August 2017

Karen Turner

12

1 reference

20 August 2017

Lorna Gregory

13

1 reference

20 August 2017

David Buck

14

1 reference

20 August 2017

Leendert H J Looijenga

16

1 reference

20 August 2017

Bronwyn Kerr

17

1 reference

20 August 2017

language of work or name

English

0 references

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

1 reference

20 August 2017

50

1 reference

20 August 2017

20152-20157

1 reference

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 the RET proto-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