(Q58193482)

Claudio Carta

3

0 references

Marco Tartaglia

Marco Tartaglia

20

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Andrea Ballabio

Andrea Ballabio

17

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Bruno Dallapiccola

Bruno Dallapiccola

16

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Francesca Pantaleoni

2

Francesca Pantaleoni

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author name string

Giuseppe Zampino

1

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Isabella Vasta

5

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Cinzia Neri

6

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Edgar A. Pogna

7

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Emma De Feo

8

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Angelica Delogu

9

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Anna Sarkozy

10

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Francesca Atzeri

11

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Angelo Selicorni

12

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Katherine A. Rauen

13

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Cheryl S. Cytrynbaum

14

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Rosanna Weksberg

15

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Giovanni Neri

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

19

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publication date

March 2007

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published in

Human Mutation

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volume

28

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page(s)

265-272

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issue

3

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

rasH mutants deficient in GTP binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

Tumor predisposition in Costello syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

p53 mutational spectra and the role of methylated CpG sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

Blocking oncogenic Ras signaling for cancer therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Germline mutations in HRAS proto-oncogene cause Costello syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Mutations of the ras gene product p21 that abolish guanine nucleotide binding

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Targeted genomic disruption of H-ras and N-ras, individually or in combination, reveals the dispensability of both loci for mouse growth and development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Isolation of ras GTP-binding mutants using an in situ colony-binding assay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Ras proteins: different signals from different locations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Ras plasma membrane signalling platforms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Costello syndrome: an overview

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Targeted deletion of the H-ras gene decreases tumor formation in mouse skin carcinogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Mapping a gene for Noonan syndrome to the long arm of chromosome 12

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

K-ras is an essential gene in the mouse with partial functional overlap with N-ras

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

CFC index for the diagnosis of cardiofaciocutaneous syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Genetics of the Costello syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Signaling interplay in Ras superfamily function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Exclusive paternal origin of new mutations in Apert syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Parental age and mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

UCSF Chimera--a visualization system for exploratory research and analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Germline KRAS mutations cause Noonan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Identification of effector residues and a neutralizing epitope of Ha-ras-encoded p21.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Effects of age on DNA double-strand breaks and apoptosis in human sperm

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Noonan syndrome and related disorders: genetics and pathogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

The murine N-ras gene is not essential for growth and development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Clinical and molecular studies in a large Dutch family with Noonan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

The oncogenic activation of human p21ras by a novel mechanism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Ras-A Molecular Switch Involved in Tumor Formation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021

Preferential germline mutation of the paternal allele in retinoblastoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20431

7 January 2021