(Q34328441)

1 August 2017

Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients (English)

1 reference

1 August 2017

Sabrina Titze

1

1 reference

1 August 2017

Hartmut Peters

2

1 reference

1 August 2017

Sandra Währisch

3

1 reference

1 August 2017

Thomas Harder

4

1 reference

1 August 2017

Katrin Guse

5

1 reference

1 August 2017

Annegret Buske

6

1 reference

1 August 2017

Sigrid Tinschert

7

1 reference

1 August 2017

Anja Harder

8

1 reference

1 August 2017

language of work or name

1 reference

1 January 2010

1 reference

European Journal of Human Genetics

1 August 2017

1 reference

1 August 2017

18

1 reference

1 August 2017

81-87

1 reference

1 August 2017

1

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2009.129

1 August 2017

0 references

cites work

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987165

6 July 2018

Epigenetics in cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987165

Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987165

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987165

Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987165

Regulation of hMSH2 and hMLH1 expression in the human colon cancer cell line SW1116 by DNA methyltransferase 1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987165

Promoter hypermethylation is the predominant mechanism in hMLH1 and hMSH2 deregulation and is a poor prognostic factor in nonsmoking lung cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987165

Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987165

Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987165

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987165

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987165

An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987165

Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987165

Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987165

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.129

Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.129

Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.129

Promoter methylation of the hMLH1 gene and protein expression of human mutL homolog 1 and human mutS homolog 2 in resected esophageal squamous cell carcinoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.129

Methylation analysis of the neurofibromatosis type 1 (NF1) promoter in peripheral nerve sheath tumours.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.129

Different genetic pathways in the development of periocular sebaceous gland carcinomas in presumptive Muir-Torre syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.129

Promoter analysis of the human mismatch repair gene hMSH2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.129

Hypermethylation analysis of mismatch repair genes (hmlh1 and hmsh2) in locally advanced breast cancers in Indian women.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.129

Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987165

Mutational analysis of promoters of mismatch repair genes hMSH2 and hMLH1 in hereditary nonpolyposis colorectal cancer and early onset colorectal cancer patients: identification of three novel germ-line mutations in promoter of the hMSH2 gene.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987165

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987165

Hypermethylation of the hMLH1 gene promoter in human gastric cancers with microsatellite instability

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987165

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations

27 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.129

Mlh1 deficiency accelerates myeloid leukemogenesis in neurofibromatosis 1 (Nf1) heterozygous mice

21 January 2018

1 reference

12 December 2020

Loss of NF1 allele in Schwann cells but not in fibroblasts derived from an NF1-associated neurofibroma

1 reference

12 December 2020

Microsatellite instability caused by hMLH1 promoter methylation increases with tumor progression in right-sided sporadic colorectal cancer

1 reference

12 December 2020

Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2009.129

1 reference

1 August 2017

1 reference

1 August 2017

1 reference