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Analysis of the impact of DGAT1 p.M435L and p.K232A variants on pre-mRNA splicing in a full-length gene assay

Scientific reports, 2023-06, Vol.13 (1), p.8999-8999, Article 8999

2023

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Integrin alpha 6 homozygous splice-site mutation causes a new form of junctional epidermolysis bullosa in Charolais cattle

Genetics selection evolution (Paris), 2023-06, Vol.55 (1), p.40-40, Article 40

2023

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Toward a clinical diagnostic pipeline for SPINK1 intronic variants

Human genomics, 2019-02, Vol.13 (1), p.8-8, Article 8

2019

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Functional analysis of eight missense mutations in the SPINK1 gene

Pancreas, 2012-03, Vol.41 (2), p.329-330

2012

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In silico prioritization and further functional characterization of SPINK1 intronic variants

Human genomics, 2017-05, Vol.11 (1), p.7-7, Article 7

2017

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Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay

Genes, 2017-10, Vol.8 (10), p.263

2017

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Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor ( ) gene

European journal of human genetics : EJHG, 2007-09, Vol.15 (9), p.936-942

2007

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Coupling ex vivo electroporation of mouse retinas and luciferase reporter assays to assess rod-specific promoter activity

Experimental eye research, 2016-07, Vol.148, p.79-82

2016

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The c.1275A>G putative chronic pancreatitis-associated synonymous polymorphism in the glycoprotein 2 (GP2) gene decreases exon 9 inclusion

Molecular genetics and metabolism, 2010-03, Vol.99 (3), p.319-324

2010

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Identification of a functional PRSS1 promoter variant in linkage disequilibrium with the chronic pancreatitis-protecting rs10273639

Gut, 2015-11, Vol.64 (11), p.1837-1838

2015

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In vitro and in silico evidence against a significant effect of the SPINK1 c.194G>A variant on pre-mRNA splicing

Gut, 2017-12, Vol.66 (12), p.2195

2017

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Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitis

Gut, 2016-05, Vol.65 (5), p.884-886

2016

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No Association Between CEL–HYB Hybrid Allele and Chronic Pancreatitis in Asian Populations

Gastroenterology (New York, N.Y. 1943), 2016-06, Vol.150 (7), p.1558-1560.e5

2016

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Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic Pancreatitis: HUMAN MUTATION

Human mutation, 2016-11, Vol.37 (11), p.1149-1152

2016

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5′ splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity

Human mutation, 2020-08, Vol.41 (8), p.1358-1364

2020

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Identification of HMX1 target genes: a predictive promoter model approach

Molecular vision, 2013-08, Vol.19, p.1779-1794

2013

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Impact of known SPINK1 missense variants on pre-mRNA splicing and/or mRNA stability in a full-length gene assay

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.], 2018-06, Vol.18 (4), p.S33-S33

2018

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First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts

Human mutation, 2019-10, Vol.40 (10), p.1856-1873

2019

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Digging deeper into the intronic sequences of the SPINK1 gene: Table 1

Gut, 2016-06, Vol.65 (6), p.1055-1056

2016

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Identification of a functional enhancer variant within the chronic pancreatitis‐associated SPINK1 c.101A>G (p.Asn34Ser)‐containing haplotype

Human mutation, 2017-08, Vol.38 (8), p.1014-1024

2017

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First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts

Human mutation, 2019-10, Vol.40 (10), p.1856-1873

2019

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Toward a clinical diagnostic pipeline for SPINK1 intronic variants

Human genomics, 2019-12, Vol.13 (1), p.785-786

2019

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Digging deeper into the intronic sequences of the SPINK1 gene

Gut, 2016-06, Vol.65 (6), p.1055-1056

2016

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Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic Pancreatitis

Human mutation, 2016-11, Vol.37 (11), p.1149-1152

2016

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Identification of a functional SPINK1 enhancer variant in linkage disequilibrium with the chronic pancreatitis-associated SPINK1 p.Asn34Ser variant

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.], 2017-07, Vol.17 (3), p.S15-S16

2017

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Analysis of the impact of DGAT1 p.M435L and p.K232A variants on pre-mRNA splicing in a full-length gene assay

Integrin alpha 6 homozygous splice-site mutation causes a new form of junctional epidermolysis bullosa in Charolais cattle

Toward a clinical diagnostic pipeline for SPINK1 intronic variants

Functional analysis of eight missense mutations in the SPINK1 gene

In silico prioritization and further functional characterization of SPINK1 intronic variants

Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay

Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor ( ) gene

Coupling ex vivo electroporation of mouse retinas and luciferase reporter assays to assess rod-specific promoter activity

The c.1275A>G putative chronic pancreatitis-associated synonymous polymorphism in the glycoprotein 2 (GP2) gene decreases exon 9 inclusion

Identification of a functional PRSS1 promoter variant in linkage disequilibrium with the chronic pancreatitis-protecting rs10273639

In vitro and in silico evidence against a significant effect of the SPINK1 c.194G>A variant on pre-mRNA splicing

Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitis

No Association Between CEL–HYB Hybrid Allele and Chronic Pancreatitis in Asian Populations

Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic Pancreatitis: HUMAN MUTATION

5′ splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity

Identification of HMX1 target genes: a predictive promoter model approach

Impact of known SPINK1 missense variants on pre-mRNA splicing and/or mRNA stability in a full-length gene assay

First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts

Digging deeper into the intronic sequences of the SPINK1 gene: Table 1

Identification of a functional enhancer variant within the chronic pancreatitis‐associated SPINK1 c.101A>G (p.Asn34Ser)‐containing haplotype

First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts

Toward a clinical diagnostic pipeline for SPINK1 intronic variants

Digging deeper into the intronic sequences of the SPINK1 gene

Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic Pancreatitis

Identification of a functional SPINK1 enhancer variant in linkage disequilibrium with the chronic pancreatitis-associated SPINK1 p.Asn34Ser variant

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