(Q79927330)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18030674%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

title

RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference (English)

1 reference

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27 December 2019

1 reference

J Etzler

1

1 reference

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27 December 2019

A Peyrl

2

1 reference

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27 December 2019

A Zatkova

3

1 reference

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27 December 2019

H-U Schildhaus

4

1 reference

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27 December 2019

A Ficek

5

1 reference

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27 December 2019

S Merkelbach-Bruse

6

1 reference

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27 December 2019

C P Kratz

7

1 reference

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27 December 2019

A Attarbaschi

8

1 reference

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27 December 2019

J A Hainfellner

9

1 reference

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27 December 2019

S Yao

10

1 reference

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27 December 2019

L Messiaen

11

1 reference

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27 December 2019

I Slavc

12

1 reference

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27 December 2019

K Wimmer

13

1 reference

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27 December 2019

publication date

1 February 2008

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27 December 2019

1 reference

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27 December 2019

volume

29

1 reference

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27 December 2019

issue

2

1 reference

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27 December 2019

page(s)

299-305

1 reference

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Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform (STK11 c.597(insertion mark)598insIVS4)

27 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.

1 reference

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7 January 2021

Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

1 reference

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7 January 2021

Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations

1 reference

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7 January 2021

Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability

1 reference

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7 January 2021

Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Early onset brain tumor and lymphoma in MSH2-deficient children

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Intrachromosomal serial replication slippage intransgives rise to diverse genomic rearrangements involving inversions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Long-range PCR facilitates the identification of PMS2-specific mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Phenotype associated with recessively inherited mutations in DNA mismatch repair (MMR) genes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Constitutive deficiency in DNA mismatch repair

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

PMS2 mutations in HNPCC

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Extensive gene conversion at the PMS2 DNA mismatch repair locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Clinical and cytogenetic correlations in 63 patients with therapy-related myelodysplastic syndromes and acute nonlymphocytic leukemia: further evidence for characteristic abnormalities of chromosomes no. 5 and 7

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Analysis of mismatch repair genes in hereditary non–polyposis colorectal cancer patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations: establishment of immunohistochemical analysis as a screening test

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Mutations of two PMS homologues in hereditary nonpolyposis colon cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Getting rid of the PMS2 pseudogenes: mission impossible?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Deficient DNA mismatch repair: a common etiologic factor for colon cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Clinical-cytogenetic associations in 306 patients with therapy-related myelodysplasia and myeloid leukemia: the University of Chicago series.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Therapy-related myeloid leukemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Improved mutation detection in GC-rich DNA fragments by combined DGGE and CDGE.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20657

7 January 2021

Identifiers

DOI

10.1002/HUMU.20657

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18030674%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

1 reference