Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites (Q44287764)

1 December 2017

title

Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites (English)

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1 December 2017

Mireille Claustres

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1 December 2017

Sylvie Tuffery-Giraud

7

object named as

Sylvie Tuffery-Giraud

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1 December 2017

author name string

Sandie Le Guédard-Méreuze

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1 December 2017

Christel Vaché

2

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1 December 2017

Nicolas Molinari

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1 December 2017

Julie Vaudaine

4

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1 December 2017

Anne-Françoise Roux

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1 December 2017

publication date

1 September 2009

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1 December 2017

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1 December 2017

volume

30

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1 December 2017

issue

9

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1 December 2017

page(s)

1329-1339

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Activation of a cryptic 5' splice site by U1 snRNA

1 December 2017

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7 January 2021

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

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

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7 January 2021

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

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7 January 2021

Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain

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7 January 2021

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients

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7 January 2021

Mutation analysis of the MCM gene in Israeli patients with mut(0) disease

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7 January 2021

A novel splice donor mutation affecting position +3 in intron 6 of the factor VIII gene

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7 January 2021

Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency

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7 January 2021

Allosteric cascade of spliceosome activation

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7 January 2021

Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein

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7 January 2021

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

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7 January 2021

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

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7 January 2021

Prediction of complete gene structures in human genomic DNA

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7 January 2021

Comparative analysis detects dependencies among the 5' splice-site positions

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7 January 2021

Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease. Mutations in brief no.

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7 January 2021

Categorization and characterization of transcript-confirmed constitutively and alternatively spliced introns and exons from human

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7 January 2021

Mutations in the conserved loop of human U5 snRNA generate use of novel cryptic 5' splice sites in vivo

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7 January 2021

Complementation by SR proteins of pre-mRNA splicing reactions depleted of U1 snRNP

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7 January 2021

Enzymatic mechanisms in corneal ulceration with specific reference to familial dysautonomia: potential for genetic approaches.

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7 January 2021

Extended base pair complementarity between U1 snRNA and the 5' splice site does not inhibit splicing in higher eukaryotes, but rather increases 5' splice site recognition

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7 January 2021

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families

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7 January 2021

A mutation hotspot at the p14ARF splice site.

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7 January 2021

Diagnostics of pathogenic splicing mutations: does bioinformatics cover all bases?

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7 January 2021

Mechanisms for selecting 5' splice sites in mammalian pre-mRNA splicing

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7 January 2021

Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis

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7 January 2021

Pre-mRNA splicing: awash in a sea of proteins

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7 January 2021

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

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7 January 2021

Expression analysis of an FGFR2 IIIc 5' splice site mutation (1084+3A->G).

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7 January 2021

Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.

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7 January 2021

Insights into the mechanisms of splicing: more lessons from the ribosome

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7 January 2021

Screening of the CAPN3 gene in patients with possible LGMD2A

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7 January 2021

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing

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7 January 2021

Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia

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7 January 2021

Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.

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7 January 2021

Defining a 5' splice site by functional selection in the presence and absence of U1 snRNA 5' end.

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7 January 2021

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping

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https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Mechanism for cryptic splice site activation during pre-mRNA splicing

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https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

U5 snRNA interacts with exon sequences at 5′ and 3′ splice sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

1 reference

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7 January 2021

Desmin splice variants causing cardiac and skeletal myopathy

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7 January 2021

Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes

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7 January 2021

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance

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7 January 2021

Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms

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https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Characterisation of inherited and sporadic mutations in neurofibromatosis type-1

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https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome

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https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Can donor splice site recognition occur without the involvement of U1 snRNP?

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https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

An A-to-G Mutation at the +3-Position of Intron-8 of the HEXA Gene Is Associated with Exon 8 Skipping and Tay-Sachs Disease

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https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics

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7 January 2021

Information theory-based analysis of CYP2C19, CYP2D6 and CYP3A5 splicing mutations.

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https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Involvement of U1 small nuclear ribonucleoproteins (snRNP) in 5' splice site-U1 snRNP interaction

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https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites

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https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Update on Usher syndrome

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https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Association of U6 snRNA with the 5'-splice site region of pre-mRNA in the spliceosome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

A U1 snRNA:pre-mRNA base pairing interaction is required early in yeast spliceosome assembly but does not uniquely define the 5' cleavage site.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

5' splice site selection in yeast: genetic alterations in base-pairing with U1 reveal additional requirements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Computer methods to locate signals in nucleic acid sequences

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https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Human Gene Mutation Database (HGMD): 2003 update

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https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs

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https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition

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https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Systematic screening for RNA with skipped exons--splicing mutations of the ferrochelatase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Interactions of small nuclear RNA's with precursor messenger RNA during in vitro splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21070

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.21070

7 January 2021

Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

A biochemical function for the Sm complex.

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https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

A compensatory base change in U1 snRNA suppresses a 5' splice site mutation

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https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability

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https://api.crossref.org/works/10.1002%2FHUMU.21070

7 January 2021

Identifiers

DOI

10.1002/HUMU.21070

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1 December 2017

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