A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts (Q42445665)

31 October 2017

A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts (English)

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Kristine Engelsen Fjelland

31 October 2017

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object named as

Kristine Fjelland

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31 October 2017

Wenche Sjursen

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31 October 2017

Inga Bjørnevoll

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31 October 2017

Lars F Engebretsen

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31 October 2017

Tore Halvorsen

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31 October 2017

Helge E Myrvold

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31 October 2017

28 November 2008

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31 October 2017

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31 October 2017

179-186

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31 October 2017

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https://scigraph.springernature.com/pub.10.1007/s10689-008-9225-5

31 October 2017

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cites work

Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10689-008-9225-5

Structure and function of the N-terminal 40 kDa fragment of human PMS2: a monomeric GHL ATPase

21 January 2018

1 reference

12 December 2020

Hypothesis: Possible role of retinoic acid therapy in patients with biallelic mismatch repair gene defects.

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12 December 2020

Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene

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12 December 2020

Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors

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12 December 2020

Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation

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12 December 2020

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

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12 December 2020

Transformation of MutL by ATP binding and hydrolysis: a switch in DNA mismatch repair

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12 December 2020

PMS2 mutations in childhood cancer

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12 December 2020

Identification and characterization of the familial adenomatous polyposis coli gene

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12 December 2020

Brain tumor-polyposis syndrome: two genetic diseases?

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12 December 2020

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

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12 December 2020

Genomic DNA-based hMSH2 and hMLH1 mutation screening in 32 Eastern United States hereditary nonpolyposis colorectal cancer pedigrees

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12 December 2020

Long-time survival of a patient with glioblastoma and Turcot's syndrome

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12 December 2020

A novel aberrant splice site mutation in the APC gene

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12 December 2020

mRNA quality control: an ancient machinery recognizes and degrades mRNAs with nonsense codons.

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12 December 2020

Microsatellite marker analysis in screening for hereditary nonpolyposis colorectal cancer (HNPCC)

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12 December 2020

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

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12 December 2020

The molecular basis of Turcot's syndrome

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12 December 2020

Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations

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12 December 2020

Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases

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12 December 2020

The hPMS2 exon 5 mutation and malignant glioma. Case report.

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12 December 2020

Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C]

1 reference

12 December 2020

Germline PMS2 mutations: one hit or two?

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12 December 2020

Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer

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12 December 2020

Genomic organization of the human PMS2 gene family.

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12 December 2020

Incidence of Hereditary Nonpolyposis Colorectal Cancer and the Feasibility of Molecular Screening for the Disease

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Defective mismatch-repair as a minor tumorigenic pathway in Barrett esophagus-associated adenocarcinoma

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12 December 2020

Inhibition of nonsense-mediated messenger RNA decay in clinical samples facilitates detection of human MSH2 mutations with an in vivo fusion protein assay and conventional techniques

1 reference

12 December 2020

10.1007/S10689-008-9225-5

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DOI

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31 October 2017

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