(Q33633815)

28 July 2017

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

1 reference

Andrew Oliver Mungo Wilkie

28 July 2017

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10

1 reference

28 July 2017

9

Ewa Rajpert-De Meyts

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Simon J McGowan

object named as

Simon J McGowan

6

0 references

Anne Goriely

object named as

Anne Goriely

1

0 references

Gilean McVean

8

object named as

Gilean A T McVean

1 reference

28 July 2017

Ruth M S Hansen

2

1 reference

28 July 2017

Indira B Taylor

3

1 reference

28 July 2017

Inge A Olesen

4

1 reference

28 July 2017

Grete Krag Jacobsen

5

1 reference

28 July 2017

Susanne P Pfeifer

7

1 reference

28 July 2017

language of work or name

English

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publication date

25 October 2009

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28 July 2017

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28 July 2017

41

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28 July 2017

1247-1252

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28 July 2017

11

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https://scigraph.springernature.com/pub.10.1038/ng.470

28 July 2017

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

Understanding what determines the frequency and pattern of human germline mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

The role of senescence and prosurvival signaling in controlling the oncogenic activity of FGFR2 mutants associated with cancer and birth defects

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

Spermatogonial stem cells: mouse and human comparisons

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

Role of ERK1/2 signaling in congenital valve malformations in Noonan 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=2817493

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

Drug-sensitive FGFR2 mutations in endometrial carcinoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

Common and rare variants in multifactorial susceptibility to common diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

Gdnf upregulates c-Fos transcription via the Ras/Erk1/2 pathway to promote mouse spermatogonial stem cell proliferation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

A Molecular Brake in the Kinase Hinge Region Regulates the Activity of Receptor Tyrosine Kinases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

The molecular anatomy of spontaneous germline mutations in human testes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

FGFR3 protein expression and its relationship to mutation status and prognostic variables in bladder cancer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

Hyperactive Ras in developmental disorders and cancer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

Evolution of primate gene expression

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

Genomic and expression profiling of human spermatocytic seminomas: primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan 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=2817493

The phosphotyrosine phosphatase SHP2 is a critical mediator of transformation induced by the oncogenic fibroblast growth factor receptor 3

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

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=2817493

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=2817493

Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

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=2817493

Regulation of cell fate decision of undifferentiated spermatogonia by GDNF.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

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=2817493

Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

Genetics and epidemiology, congenital anomalies and cancer.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

Exclusive paternal origin of new 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=2817493

Parent-of-origin effects in multiple endocrine neoplasia type 2B

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

21 June 2018

Spermatocytic seminoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

Effects of two major activating lesions on the structure and conformation of human ras oncogene products

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

Carcinoma-in-situ of the testis: possible origin from gonocytes and precursor of all types of germ cell tumours except spermatocytoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817493

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

21 June 2018

1 reference

Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.

21 January 2018

1 reference

Strong and weak male mutation bias at different sites in the primate genomes: insights from the human-chimpanzee comparison.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.

21 January 2018

1 reference

Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

21 January 2018

1 reference

Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders

21 January 2018

1 reference

Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice

21 January 2018

1 reference

A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos.

21 January 2018

1 reference

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

21 January 2018

1 reference

FGFR3 and Ras gene mutations are mutually exclusive genetic events in urothelial cell carcinoma.

21 January 2018

1 reference

RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

12 December 2020

The immunohistochemical expression pattern of Chk2, p53, p19INK4d, MAGE-A4 and other selected antigens provides new evidence for the premeiotic origin of spermatocytic seminoma

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

Paternal bias in parental origin of HRAS mutations in Costello syndrome

1 reference

12 December 2020

SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect

1 reference

12 December 2020

Functional identification of the actual and potential stem cell compartments in mouse spermatogenesis

1 reference

12 December 2020

Spectrum of FGFR3 mutations in multiple intraindividual seborrheic keratoses

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.470

1 reference

28 July 2017

1 reference

28 July 2017

1 reference