NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region. (Q51155448)

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27 December 2019

title

NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region (English)

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27 December 2019

8

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27 December 2019

Dario Motti

5

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27 December 2019

author name string

Marco Baralle

1

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27 December 2019

Natasa Skoko

2

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27 December 2019

Anna Knezevich

3

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27 December 2019

Laura De Conti

4

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27 December 2019

Madhuri Bhuvanagiri

6

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27 December 2019

Diana Baralle

7

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27 December 2019

Francisco E Baralle

9

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27 December 2019

language of work or name

English

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publication date

14 July 2006

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27 December 2019

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27 December 2019

volume

580

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27 December 2019

issue

18

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27 December 2019

page(s)

4449-4456

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Sorting out the complexity of SR protein functions

27 December 2019

cites work

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Another step forward for SELEXive splicing.

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Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

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Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.

21 January 2018

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

21 January 2018

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Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene

21 January 2018

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Alternatively spliced TCR mRNA induced by disruption of reading frame.

21 January 2018

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Alternative splicing induced by nonsense mutations in the immunoglobulin mu VDJ exon is independent of truncation of the open reading frame

21 January 2018

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Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors

21 January 2018

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Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

21 January 2018

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Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay

21 January 2018

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A new type of mutation causes a splicing defect in ATM.

21 January 2018

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New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

21 January 2018

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Complex splicing pattern generates great diversity in human NF1 transcripts

21 January 2018

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A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition.

21 January 2018

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Predictive identification of exonic splicing enhancers in human genes

21 January 2018

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The RNA binding protein YB-1 binds A/C-rich exon enhancers and stimulates splicing of the CD44 alternative exon v4.

21 January 2018

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Splicing of constitutive upstream introns is essential for the recognition of intra-exonic suboptimal splice sites in the thrombopoietin gene

21 January 2018

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A polar mechanism coordinates different regions of alternative splicing within a single gene.

21 January 2018

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Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.

21 January 2018

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Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

21 January 2018

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Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element

21 January 2018

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