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) (Q28201622)

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scientific article (publication date: November 2001)

Language	Label	Description	Also known as
English	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)	scientific article (publication date: November 2001)

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scholarly article

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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) (English)

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Peutz-Jeghers syndrome

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based on heuristic

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author name string

A A Abed

1

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K Günther

2

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C Kraus

3

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W Hohenberger

4

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W G Ballhausen

5

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language of work or name

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publication date

November 2001

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18

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5

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397-410

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Eukaryotic release factor 1 (eRF1) abolishes readthrough and competes with suppressor tRNAs at all three termination codons in messenger RNA.

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Nonsense-mediated mRNA decay in health and disease

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Recoding: dynamic reprogramming of translation.

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Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanoma

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A serine/threonine kinase gene defective in Peutz-Jeghers syndrome

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Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy. Mutations in brief no. 213. Online

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Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase

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STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients

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RNA-based mutation screening in German families with Sjögren-Larsson syndrome.

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Expression of LKB1 and PTEN tumor suppressor genes during mouse embryonic development.

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Translational termination efficiency in mammals is influenced by the base following the stop codon.

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Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity

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Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome

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p53 compound heterozygosity in a severely affected child with Li-Fraumeni syndrome

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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The mouse Peutz-Jeghers syndrome gene Lkb1 encodes a nuclear protein kinase

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A mutated human homologue to yeast Upf1 protein has a dominant-negative effect on the decay of nonsense-containing mRNAs in mammalian cells

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Growth suppression by Lkb1 is mediated by a G(1) cell cycle arrest

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Peutz-Jeghers syndrome

1 reference

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Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.

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Epigenetic inactivation of LKB1 in primary tumors associated with the Peutz-Jeghers syndrome

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The twenty-first amino acid

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Identification of a novel mRNA species of the LKB1/STK11 Peutz-Jeghers serine/threonine kinase

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A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2

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SSCP analysis: A blind sensitivity trial

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Loss of cytoplasmic retention ability of mutant LKB1 found in Peutz-Jeghers syndrome patients

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In situ analysis of LKB1/STK11 mRNA expression in human normal tissues and tumours

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Identifiers

10.1002/HUMU.1211

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