Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis

Orsolya Király, Arnaud Boulling, Heiko Witt, +7

Human Mutation

Signal TransductionAutoimmune DiseasePancreatic CancerSignal Peptide VariantsReceptor Tyrosine Kinase +11

Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene

Arnaud Boulling, Cédric Le Maréchal, Pascal Trouvé, +3

European Journal of Human Genetics

Signal TransductionEngineeringPancreatitis-associated Missense MutationsPancreatic CancerPancreatic Fluid Collection +6

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

Wen‐Bin Zou, Arnaud Boulling, Atsushi Masamune, +23

Gastroenterology

Asian PopulationsChronic PancreatitisPancreatic CancerAllergyPancreatic Fluid Collection +3

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

Arnaud Boulling, Emmanuelle Masson, Wen‐Bin Zou, +11

Human Mutation

GeneticsHuman PolymorphismPathologyMolecular GeneticsDisease Gene Identification +15

Assessing the pathological relevance of SPINK1 promoter variants

Arnaud Boulling, Heiko Witt, Giriraj R. Chandak, +7

European Journal of Human Genetics

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

Hao Wu, Arnaud Boulling, D.N. Cooper, +4

Genes

In silico prioritization and further functional characterization of SPINK1 intronic variants

Wen‐Bin Zou, Hao Wu, Arnaud Boulling, +5

Human Genomics

Toward a clinical diagnostic pipeline for SPINK1 intronic variants

Xin‐Ying Tang, Jin‐Huan Lin, Wen‐Bin Zou, +8

Human Genomics

Identification and characterisation of mitochondrial sequences integrated into the ovine nuclear genome

Maureen Féménia, Mathieu Charles, Arnaud Boulling, +1

Animal Genetics

Identification of HMX1 target genes: a predictive promoter model approach.

Arnaud Boulling, Linda Wicht, Daniel F. Schorderet

PubMed