Genetics, pathobiology and therapeutic opportunities of polycystic liver disease
P Olaizola, PM Rodrigues… - Nature Reviews …, 2022 - nature.com
Polycystic liver diseases (PLDs) are inherited genetic disorders characterized by
progressive development of intrahepatic, fluid-filled biliary cysts (more than ten), which …
progressive development of intrahepatic, fluid-filled biliary cysts (more than ten), which …
Recent advances in understanding ion transport mechanisms in polycystic kidney disease
AV Sudarikova, VY Vasileva, RF Sultanova… - Clinical …, 2021 - portlandpress.com
This review focuses on the most recent advances in the understanding of the electrolyte
transport-related mechanisms important for the development of severe inherited renal …
transport-related mechanisms important for the development of severe inherited renal …
[HTML][HTML] Polycystic liver disease genes: practical considerations for genetic testing
MM Boerrigter, EMHF Bongers, D Lugtenberg… - European journal of …, 2021 - Elsevier
The development of a polycystic liver is a characteristic of the monogenic disorders:
autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic …
autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic …
A potential therapy using antisense oligonucleotides to treat autosomal recessive polycystic kidney disease
H Li, C Wang, R Che, B Zheng, W Zhou… - Journal of Clinical …, 2023 - mdpi.com
(1) Background: Autosomal recessive polycystic kidney disease (ARPKD) is a rare ciliopathy
characterized by progressively enlarged kidneys with fusiform dilatation of the collecting …
characterized by progressively enlarged kidneys with fusiform dilatation of the collecting …
[HTML][HTML] Dysregulation of the Scribble/YAP/β-catenin axis sustains the fibroinflammatory response in a PKHD1−/− mouse model of congenital hepatic fibrosis
L Fabris, C Milani, R Fiorotto, V Mariotti… - … : official publication of …, 2022 - ncbi.nlm.nih.gov
Congenital hepatic fibrosis (CHF), a genetic cholangiopathy characterized by fibropolycystic
changes in the biliary tree, is caused by mutations in the PKHD1 gene, leading to defective …
changes in the biliary tree, is caused by mutations in the PKHD1 gene, leading to defective …
Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics
J de Fallois, R Schönauer, J Münch, M Nagel… - Frontiers in …, 2021 - frontiersin.org
Background Autosomal polycystic kidney disease is distinguished into dominant (ADPKD)
and recessive (ARPKD) inheritance usually caused by either monoallelic (PKD1/PKD2) or …
and recessive (ARPKD) inheritance usually caused by either monoallelic (PKD1/PKD2) or …
The VUS Challenge in Cystic Kidney Disease: A Case-Based Review
AM Aklilu, A Gulati, KJ Kolbert, H Yang, PC Harris… - Kidney360, 2023 - journals.lww.com
Genetic testing in nephrology is becoming increasingly important to diagnose patients and
to provide appropriate care. This is especially true for Autosomal Dominant Polycystic …
to provide appropriate care. This is especially true for Autosomal Dominant Polycystic …
Etablierung eines Zellkulturmodells, um molekulare und zelluläre Effekte der Sec61α1R236C Mutation, die mit polyzystischer Lebererkrankung assoziiert ist, zu …
JK Krader - 2021 - search.proquest.com
Hintergrund: Genetische Analysen am Universitätsklinikum Münster identifizierten eine neue
heterozygote missense Mutation (c. 706C> T; p. R236C) im Gen SEC61A1 bei zwei …
heterozygote missense Mutation (c. 706C> T; p. R236C) im Gen SEC61A1 bei zwei …