Constitutional high expression of an APC mRNA isoform in a subset of attenuated familial adenomatous polyposis patients. (Q54451020)

30 May 2018

title

Constitutional high expression of an APC mRNA isoform in a subset of attenuated familial adenomatous polyposis patients. (English)

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30 May 2018

Attenuated familial adenomatous polyposis

main subject

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author name string

Tiziana Venesio

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30 May 2018

Antonella Balsamo

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30 May 2018

Christian Sfiligoi

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Luca Fuso

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30 May 2018

Sara Molatore

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30 May 2018

Guglielmina Nadia Ranzani

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30 May 2018

Mauro Risio

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30 May 2018

publication date

2 December 2006

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30 May 2018

Journal of Molecular Medicine

published in

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30 May 2018

volume

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30 May 2018

issue

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30 May 2018

page(s)

305-312

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30 May 2018

BRCA2 T2722R is a deleterious allele that causes exon skipping

cites work

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12 December 2020

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas

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12 December 2020

The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect

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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

Pre-mRNA splicing and human disease

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12 December 2020

Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

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12 December 2020

The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.

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12 December 2020

Evidence for a novel exon in the coding region of the adenomatous polyposis coli (APC) gene

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12 December 2020

Identification and characterization of the familial adenomatous polyposis coli gene

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12 December 2020

Transcript dosage effect in familial adenomatous polyposis: model offered by two kindreds with exon 9 APC gene mutations

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12 December 2020

Multiple forms of the APC gene transcripts and their tissue-specific expression.

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12 December 2020

Splicing regulation as a potential genetic modifier

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12 December 2020

Attenuated familial adenomatous polyposis: an evolving and poorly understood entity

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12 December 2020

Multiple APC messenger RNA isoforms encoding exon 15 short open reading frames are expressed in the context of a novel exon 10A‐derived sequence

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12 December 2020

APC gene: database of germline and somatic mutations in human tumors and cell lines

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12 December 2020

Multiple products in the protein truncation test due to alternative splicing in the adenomatous polyposis coli (APC) gene.

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12 December 2020

APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis

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12 December 2020

APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis.

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12 December 2020

Hypermethylation of the APC (adenomatous polyposis coli) gene promoter region in human colorectal carcinoma.

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12 December 2020

A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family

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12 December 2020

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

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12 December 2020

Constitutive APC exon 14 skipping in early-onset familial adenomatous polyposis reveals a dramatic quantitative distortion of APC gene-specific isoforms.

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12 December 2020

Alternative splicing of the APC gene in the neural retina and retinal pigment epithelium

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12 December 2020

Demonstration of promoter activity and alternative splicing in the region 5' to exon 1 of the APC gene.

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12 December 2020

Alternative splicing of the APC gene and its association with terminal differentiation.

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12 December 2020

The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation

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12 December 2020

APC haploinsufficiency, but not CTNNB1 or CDH1 gene mutations, accounts for a fraction of familial adenomatous polyposis patients without APC truncating mutations.

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12 December 2020

Alternatively spliced adenomatous polyposis coli (APC) gene transcripts that delete exons mutated in attenuated APC

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12 December 2020

Isoforms of the APC tumor suppressor and their ability to inhibit cell growth and tumorigenicity

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12 December 2020

10.1007/S00109-006-0127-4

Identifiers

DOI

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30 May 2018

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30 May 2018