The molecular structure and function of fibrocystin, the key gene product implicated in autosomal recessive polycystic kidney disease (ARPKD)
出版年份 2023 全文链接
标题
The molecular structure and function of fibrocystin, the key gene product implicated in autosomal recessive polycystic kidney disease (ARPKD)
作者
关键词
-
出版物
ANNALS OF HUMAN GENETICS
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2023-10-31
DOI
10.1111/ahg.12535
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Immotile cilia mechanically sense the direction of fluid flow for left-right determination
- (2023) Takanobu A. Katoh et al. SCIENCE
- Cilia function as calcium-mediated mechanosensors that instruct left-right asymmetry
- (2023) Lydia Djenoune et al. SCIENCE
- Fibrocystin/Polyductin releases a C-terminal fragment that translocates into mitochondria and suppresses cystogenesis
- (2023) Rebecca V Walker et al. Nature Communications
- Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease
- (2022) Jens Michael Hertz et al. PEDIATRIC NEPHROLOGY
- CEMIP ( HYBID , KIAA1199 ): structure, function and expression in health and disease
- (2022) Sofia Spataro et al. FEBS Journal
- Secreted KIAA1199 promotes the progression of rheumatoid arthritis by mediating hyaluronic acid degradation in an ANXA1-dependent manner
- (2021) Wei Zhang et al. Cell Death & Disease
- The Cell Surface Hyaluronidase TMEM2 Regulates Cell Adhesion and Migration via Degradation of Hyaluronan at Focal Adhesion Sites
- (2021) Fumitoshi Irie et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
- (2021) Kathrin Burgmaier et al. KIDNEY INTERNATIONAL
- An update on the use of tolvaptan for ADPKD: Consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders (WGIKD), the European Rare Kidney Disease Reference Network (ERKNet) and Polycystic Kidney Disease International (PKD-International)
- (2021) Roman-Ulrich Müller et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- The “salt and pepper” pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases
- (2020) Pauline Iorio et al. PEDIATRIC NEPHROLOGY
- Fibrocystin Is Essential to Cellular Control of Adhesion and Epithelial Morphogenesis
- (2020) Wolfgang H. Ziegler et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Ciliopathies and the Kidney: A Review
- (2020) Dominique J. McConnachie et al. AMERICAN JOURNAL OF KIDNEY DISEASES
- Origin and evolution of plexins, semaphorins, and Met receptor tyrosine kinases
- (2019) Chrystian Junqueira Alves et al. Scientific Reports
- Loss of Fibrocystin Promotes Interleukin-8-Dependent Proliferation and CTGF Production of Biliary Epithelium
- (2019) Tomoyuki Tsunoda et al. JOURNAL OF HEPATOLOGY
- Monogenic causes of chronic kidney disease in adults
- (2019) Dervla M. Connaughton et al. KIDNEY INTERNATIONAL
- Structure and function of polycystins: insights into polycystic kidney disease
- (2019) Dominique Douguet et al. Nature Reviews Nephrology
- Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)
- (2019) Kathrin Burgmaier et al. Scientific Reports
- The ion channel function of polycystin‐1 in the polycystin‐1/polycystin‐2 complex
- (2019) Zhifei Wang et al. EMBO REPORTS
- Synergistic Genetic Interactions between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models
- (2019) Rory J. Olson et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Primary cilia and the exocyst are linked to urinary extracellular vesicle production and content
- (2019) Xiaofeng Zuo et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Polycystin-2 is an essential ion channel subunit in the primary cilium of the renal collecting duct epithelium
- (2018) Xiaowen Liu et al. eLife
- The role and regulation of TMEM2 (transmembrane protein 2) in HYBID (hyaluronan (HA)-binding protein involved in HA depolymerization/ KIAA1199/CEMIP)-mediated HA depolymerization in human skin fibroblasts
- (2018) Yuta Yoshino et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Structure of the human PKD1-PKD2 complex
- (2018) Qiang Su et al. SCIENCE
- A mammalian homolog of the zebrafish transmembrane protein 2 (TMEM2) is the long-sought-after cell-surface hyaluronidase
- (2017) Hayato Yamamoto et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism
- (2017) Patricia Outeda et al. KIDNEY INTERNATIONAL
- Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease
- (2017) Hao Lu et al. NATURE GENETICS
- Genes and molecular pathways underpinning ciliopathies
- (2017) Jeremy F. Reiter et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- New treatment paradigms for ADPKD: moving towards precision medicine
- (2017) Matthew B. Lanktree et al. Nature Reviews Nephrology
- Expansion of divergent SEA domains in cell surface proteins and nucleoporin 54
- (2017) Jimin Pei et al. PROTEIN SCIENCE
- Kidney Versus Combined Kidney and Liver Transplantation in Young People With Autosomal Recessive Polycystic Kidney Disease: Data From the European Society for Pediatric Nephrology/European Renal Association−European Dialysis and Transplant (ESPN/ERA-EDTA) Registry
- (2016) Djalila Mekahli et al. AMERICAN JOURNAL OF KIDNEY DISEASES
- Macrophage recruitment by fibrocystin-defective biliary epithelial cells promotes portal fibrosis in congenital hepatic fibrosis
- (2016) Luigi Locatelli et al. HEPATOLOGY
- The polycystin complex mediates Wnt/Ca2+ signalling
- (2016) Seokho Kim et al. NATURE CELL BIOLOGY
- Structural Basis for Plexin Activation and Regulation
- (2016) Youxin Kong et al. NEURON
- Structure of the Plexin Ectodomain Bound by Semaphorin-Mimicking Antibodies
- (2016) Kei Suzuki et al. PLoS One
- Long-term pulmonary function in children with recessive polycystic kidney disease
- (2015) Timo Jahnukainen et al. ARCHIVES OF DISEASE IN CHILDHOOD
- Protein composition and movements of membrane swellings associated with primary cilia
- (2015) Ashraf M. Mohieldin et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- Combined liver and kidney transplantation and kidney after liver transplantation in children: Indication, postoperative outcome, and long-term results
- (2015) Rainer Büscher et al. PEDIATRIC TRANSPLANTATION
- A systematic review of the predictors of disease progression in patients with autosomal dominant polycystic kidney disease
- (2015) Claire Woon et al. BMC Nephrology
- Four individually druggable MET hotspots mediate HGF-driven tumor progression
- (2014) Cristina Basilico et al. JOURNAL OF CLINICAL INVESTIGATION
- Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1
- (2014) Ravindra Boddu et al. JOURNAL OF MOLECULAR MEDICINE-JMM
- Neurocognition in children with autosomal recessive polycystic kidney disease in the CKiD cohort study
- (2014) Erum A. Hartung et al. PEDIATRIC NEPHROLOGY
- Transplantation in autosomal recessive polycystic kidney disease: liver and/or kidney?
- (2014) Jayanthi Chandar et al. PEDIATRIC NEPHROLOGY
- ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies
- (2014) Carsten Bergmann PEDIATRIC NEPHROLOGY
- Autosomal Recessive Polycystic Kidney Disease: A Hepatorenal Fibrocystic Disorder With Pleiotropic Effects
- (2014) E. A. Hartung et al. PEDIATRICS
- The Cytoplasmic Tail of FPC Antagonizes the Full-Length Protein in the Regulation of mTOR Pathway
- (2014) Shixuan Wang et al. PLoS One
- Polycystin-1: a master regulator of intersecting cystic pathways
- (2014) Sorin V. Fedeles et al. TRENDS IN MOLECULAR MEDICINE
- NF-κB-induced KIAA1199 promotes survival through EGFR signalling
- (2014) Kateryna Shostak et al. Nature Communications
- Kinesin-2: A Family of Heterotrimeric and Homodimeric Motors with Diverse Intracellular Transport Functions
- (2013) Jonathan M. Scholey Annual Review of Cell and Developmental Biology
- TgrC1 mediates cell–cell adhesion by interacting with TgrB1 via mutual IPT/TIG domains during development ofDictyostelium discoideum
- (2013) Gong Chen et al. BIOCHEMICAL JOURNAL
- A fast growing spectrum of biological functions of γ-secretase in development and disease
- (2013) Nathalie Jurisch-Yaksi et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
- Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes
- (2013) Rainer Büscher et al. PEDIATRIC NEPHROLOGY
- Pathophysiology of childhood polycystic kidney diseases: new insights into disease-specific therapy
- (2013) William E. Sweeney et al. PEDIATRIC RESEARCH
- New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney-liver complications
- (2013) Grzegorz Telega et al. PEDIATRIC TRANSPLANTATION
- Kinesin motors and primary cilia
- (2012) Kristen J. Verhey et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients With Autosomal Recessive Polycystic Kidney Disease
- (2012) Meral Gunay–Aygun et al. GASTROENTEROLOGY
- Molecular Basis for Protein-specific Transfer ofN-Acetylgalactosamine toN-Linked Glycans by the Glycosyltransferases β1,4-N-Acetylgalactosaminyl Transferase 3 (β4GalNAc-T3) and β4GalNAc-T4
- (2012) Dorothy Fiete et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Peptide-specific Transfer ofN-Acetylgalactosamine toO-Linked Glycans by the Glycosyltransferases β1,4-N-Acetylgalactosaminyl Transferase 3 (β4GalNAc-T3) and β4GalNAc-T4
- (2012) Dorothy Fiete et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Tolvaptan in Patients with Autosomal Dominant Polycystic Kidney Disease
- (2012) Vicente E. Torres et al. NEW ENGLAND JOURNAL OF MEDICINE
- Crystal Structure of the Sema-PSI Extracellular Domain of Human RON Receptor Tyrosine Kinase
- (2012) Kinlin L. Chao et al. PLoS One
- Amyloid Precursor Protein Processing and Alzheimer's Disease
- (2011) Richard J. O'Brien et al. Annual Review of Neuroscience
- Structure and function of focal adhesions
- (2011) Bernhard Wehrle-Haller CURRENT OPINION IN CELL BIOLOGY
- Tagged Fibrocystin Sheds Its Secrets
- (2011) V. Patel JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Epitope-Tagged Pkhd1 Tracks the Processing, Secretion, and Localization of Fibrocystin
- (2011) J. L. Bakeberg et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Kidney and liver transplantation in patients with autosomal recessive polycystic kidney disease: a multicentric study
- (2011) M. Chapal et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- Correlation of Kidney Function, Volume and Imaging Findings, and PKHD1 Mutations in 73 Patients with Autosomal Recessive Polycystic Kidney Disease
- (2010) M. Gunay-Aygun et al. Clinical Journal of the American Society of Nephrology
- Polycystin-1: Function as a mechanosensor
- (2010) Georgia Dalagiorgou et al. INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
- The cytoplasmic tail of fibrocystin contains a ciliary targeting sequence
- (2010) John A. Follit et al. JOURNAL OF CELL BIOLOGY
- Structural basis of flocculin-mediated social behavior in yeast
- (2010) M. Veelders et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Abnormalities in focal adhesion complex formation, regulation, and function in human autosomal recessive polycystic kidney disease epithelial cells
- (2009) Sharon Israeli et al. AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
- Characterization of PKD Protein-Positive Exosome-Like Vesicles
- (2009) M. C. Hogan et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease
- (2009) Erick Denamur et al. KIDNEY INTERNATIONAL
- PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis
- (2009) Meral Gunay-Aygun et al. MOLECULAR GENETICS AND METABOLISM
- Biliary and Pancreatic Dysgenesis in Mice Harboring a Mutation in Pkhd1
- (2008) Anna-Rachel Gallagher et al. AMERICAN JOURNAL OF PATHOLOGY
- Polycystin-2 Expression Is Regulated by a PC2-binding Domain in the Intracellular Portion of Fibrocystin
- (2008) Ingyu Kim et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Fibrocystin/Polyductin Modulates Renal Tubular Formation by Regulating Polycystin-2 Expression and Function
- (2008) I. Kim et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExplorePublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More