Katarzyna Wertheim‐Tysarowska, Agnieszka Sobczyńska‐Tomaszewska, Cezary Kowaléwski, Michał Skroński et al.
Dystrophic Epidermolysis Bullosa (DEB) is a genetic disease caused by mutations in the COL7A1 gene that is inherited in the autosomal dominant or recessive mode. We have developed a curated, freely accessible COL7A1 specific database (http://www.col7.info), which contains more than 730 reported and ...
Alicja Grabarczyk, Grzegorz Oracz, Katarzyna Wertheim‐Tysarowska, Aleksandra Kujko et al.
OBJECTIVES: Genetic studies in adults/adolescent patients with chronic pancreatitis (CP) identified chymotrypsinogen C (CTRC) genetic variants but their association with CP risk has been difficult to replicate. To evaluate the risk of CP associated with CTRC variants in CP pediatric patients-control...
Karolina Wejnarska, Elwira Kołodziejczyk, Katarzyna Wertheim‐Tysarowska, Maciej Dądalski et al.
OBJECTIVES: The etiological factors of chronic pancreatitis (CP) in children differ from those in adults. To date, no study has assessed the clinical course of CP in young children. The aim of our study was to evaluate the etiology and the clinical presentation of the disease in children with diseas...
Grzegorz Oracz, Michał Zaród, Maren Ewers, Helmut Laumen et al.
PURPOSE Loss of function variants of the transient receptor potential cation channel, subfamily V, member 6 (TRPV6) have been recently associated with chronic pancreatitis (CP) in Japanese, German and French patients. Here, we investigated the association of TRPV6 variants with CP in independent Eur...
Grzegorz Oracz, Aleksandra Kujko, Karianne Fjeld, Katarzyna Wertheim‐Tysarowska et al.
OBJECTIVES It has previously been reported in a European case-control study with patients from Germany and France that CEL-HYB1, a hybrid allele of the carboxyl ester lipase (CEL) gene and its pseudogene CELP, increases susceptibility to chronic pancreatitis (CP). Here, we aimed to replicate this fi...
K. Zybert, Łukasz Woźniacki, Agnieszka Tomaszewska‐Sobczyńska, Katarzyna Wertheim‐Tysarowska et al.
INTRODUCTION: More than 2000 mutations have been identified since the discovery of the CFTR gene in 1989. However, only 346 mutations have been classified as cystic fibrosis (CF)-causing mutations. Due to the increasing number of mutations and poor correlation between the genotype and phenotype, the...
Katarzyna Jankowska, Anna Kutkowska‐Kaźmierczak, Klaudia Ślusarczyk, Alicja Domaszewicz et al.
Recently, the knowledge of the genetic basis of fertility disorders has expanded enormously, mainly thanks to the use of next-generation sequencing (NGS). However, the genetic cause of infertility, in the majority of patients, is still undefined. The aim was to identify novel and recurrent pathogeni...
Katarzyna Wertheim‐Tysarowska, Katarzyna Osipowicz, Katarzyna Woźniak, Justyna Sawicka et al.
BACKGROUND: The Mendelian Disorders of Cornification (MeDOC) comprise a large number of disorders that present with either localised (palmoplantar keratoderma, PPK) or generalised (ichthyoses) signs. The MeDOC are highly heterogenic in terms of genetics and phenotype. Consequently, diagnostic proces...