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Agnieszka Paziewska, Andrzej Habior, Agnieszka Rogowska, Włodzimierz Zych, Krzysztof Goryca, Jakub Karczmarski, Michalina Dabrowska, Filip Ambrozkiewicz, Bozena Walewska-Zielecka, Marek Krawczyk, Halina Cichoz-Lach, Piotr Milkiewicz, Agnieszka Kowalik, Krzysztof Mucha, Joanna Raczynska, Joanna Musialik, Grzegorz Boryczka, Michal Wasilewicz, Irena Ciecko-Michalska, Malgorzata Ferenc, Maria Janiak, Alina Kanikowska, Rafal Stankiewicz, Marek Hartleb, Tomasz Mach, Marian Grzymislawski, Joanna Raszeja-Wyszomirska, Ewa Wunsch, Tomasz Bobinski, Michal Mikula, Jerzy Ostrowski
BACKGROUND: Primary biliary cholangitis (PBC) and primary sclerosing cholangitis (PSC) are forms of hepatic autoimmunity, and risk for both diseases has a strong genetic component. This study aimed to define the genetic architecture of PBC and PSC within the Polish population. METHODS: Subjects were 443 women with PBC, 120 patients with PSC, and 934 healthy controls recruited from Gastroenterology Departments in various Polish hospitals. Allelotyping employed a pooled-DNA sample-based genome-wide association study (GWAS) approach, using Illumina Human Omni2...
January 6, 2017: BMC Medical Genomics
Srinivas Vinod Saladi, Kenneth Ross, Mihriban Karaayvaz, Purushothama R Tata, Hongmei Mou, Jayaraj Rajagopal, Sridhar Ramaswamy, Leif W Ellisen
Loss-of-function mutations in SWI/SNF chromatin-remodeling subunit genes are observed in many cancers, but an oncogenic role for SWI/SNF is not well established. Here, we reveal that ACTL6A, encoding an SWI/SNF subunit linked to stem cell and progenitor cell function, is frequently co-amplified and highly expressed together with the p53 family member p63 in head and neck squamous cell carcinoma (HNSCC). ACTL6A and p63 physically interact, cooperatively controlling a transcriptional program that promotes proliferation and suppresses differentiation, in part through activation of the Hippo-YAP pathway via regulators including WWC1...
January 9, 2017: Cancer Cell
Monika Talarowska, Janusz Szemraj, Małgorzata Kowalczyk, Piotr Gałecki
BACKGROUND: Genes participating in synaptic signalling or plasticity in brain regions such as the prefrontal cortex (PFC) and the hippocampus have been implicated in cognition. Recently, a new gene (KIBRA, WWC1) has been added to this group due to its impact on memory performance. Recurrent depressive disorder (rDD) is a multifactorial disease, that one of the typical features is cognitive impairment. The main objective of this study was to perform an analysis of the KIBRA gene on both mRNA and protein levels in patients suffering from rDD and to investigate the relationship between KIBRA expression and cognitive performance...
2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Mark Z Kos, Melanie A Carless, Juan Peralta, August Blackburn, Marcio Almeida, David Roalf, Michael F Pogue-Geile, Konasale Prasad, Ruben C Gur, Vishwajit Nimgaonkar, Joanne E Curran, Ravi Duggirala, David C Glahn, John Blangero, Raquel E Gur, Laura Almasy
Schizophrenia is a mental disorder characterized by impairments in behavior, thought, and neurocognitive performance. We searched for susceptibility loci at a quantitative trait locus (QTL) previously reported for abstraction and mental flexibility (ABF), a cognitive function often compromised in schizophrenia patients and their unaffected relatives. Exome sequences were determined for 134 samples in 8 European American families from the original linkage study, including 25 individuals with schizophrenia or schizoaffective disorder...
March 2016: Schizophrenia Bulletin
Mac B Robinson, Deepak A Deshpande, Jeffery Chou, Wei Cui, Shelly Smith, Carl Langefeld, Annette T Hastie, Eugene R Bleecker, Gregory A Hawkins
Genetic data suggest that IL-6 trans-signaling may have a pathogenic role in the lung; however, the effects of IL-6 trans-signaling on lung effector cells have not been investigated. In this study, human airway smooth muscle (HASM) cells were treated with IL-6 (classical) or IL-6+sIL6R (trans-signaling) for 24 h and gene expression was measured by RNAseq. Intracellular signaling and transcription factor activation were assessed by Western blotting and luciferase assay, respectively. The functional effect of IL-6 trans-signaling was determined by proliferation assay...
July 15, 2015: American Journal of Physiology. Lung Cellular and Molecular Physiology
Upal Basu-Roy, N Sumru Bayin, Kirk Rattanakorn, Eugenia Han, Dimitris G Placantonakis, Alka Mansukhani, Claudio Basilico
The repressive Hippo pathway has a profound tumour suppressive role in cancer by restraining the growth-promoting function of the transcriptional coactivator, YAP. We previously showed that the stem cell transcription factor Sox2 maintains cancer stem cells (CSCs) in osteosarcomas. We now report that in these tumours, Sox2 antagonizes the Hippo pathway by direct repression of two Hippo activators, Nf2 (Merlin) and WWC1 (Kibra), leading to exaggerated YAP function. Repression of Nf2, WWC1 and high YAP expression marks the CSC fraction of the tumor population, while the more differentiated fraction has high Nf2, high WWC1 and reduced YAP expression...
2015: Nature Communications
Diego A Ojeda, Diego A Forero
BACKGROUND: Non-synonymous single nucleotide polymorphisms (nsSNPs) in brain-expressed genes represent interesting candidates for genetic research in neuropsychiatric disorders. PURPOSE: To study novel nsSNPs in brain-expressed genes in a sample of Colombian subjects. METHODS: We applied an approach based on in silico mining of available genomic data to identify and select novel nsSNPs in brain-expressed genes. We developed novel genotyping assays, based in allele-specific PCR methods, for these nsSNPs and genotyped them in 171 Colombian subjects...
October 2014: Annals of Neurosciences
Dirk Oliver Wennmann, Jürgen Schmitz, Michael C Wehr, Michael P Krahn, Nora Koschmal, Sascha Gromnitza, Ulf Schulze, Thomas Weide, Anil Chekuri, Boris V Skryabin, Volker Gerke, Hermann Pavenstädt, Kerstin Duning, Joachim Kremerskothen
The scaffolding protein KIBRA (also called WWC1) is involved in the regulation of important intracellular transport processes and the establishment of cell polarity. Furthermore, KIBRA/WWC1 is an upstream regulator of the Hippo signaling pathway that controls cell proliferation and organ size in animals. KIBRA/WWC1 represents only one member of the WWC protein family that also includes the highly similar proteins WWC2 and WWC3. Although the function of KIBRA/WWC1 was studied intensively in cells and animal models, the importance of WWC2 and WWC3 was not yet elucidated...
July 2014: Molecular Biology and Evolution
Igor Martianov, Emilie Cler, Isabelle Duluc, Serge Vicaire, Muriel Philipps, Jean-Noel Freund, Irwin Davidson
Collagen 6A3 (Col6a3), a component of extracellular matrix, is often up-regulated in tumours and is believed to play a pro-oncogenic role. However the mechanisms of its tumorigenic activity are poorly understood. We show here that Col6a3 is highly expressed in densely growing mouse embryonic fibroblasts (MEFs). In MEFs where the TAF4 subunit of general transcription factor IID (TFIID) has been inactivated, elevated Col6a3 expression prevents contact inhibition promoting their 3 dimensional growth as foci and fibrospheres...
2014: PloS One
John Muse, Matthew Emery, Fabio Sambataro, Herve Lemaitre, Hao-Yang Tan, Qiang Chen, Bhaskar S Kolachana, Saumitra Das, Joseph H Callicott, Daniel R Weinberger, Venkata S Mattay
BACKGROUND: Episodic memory (EM) declines with age and the rate of decline is variable across individuals. A single nucleotide polymorphism (rs17070145) in the WWC1 gene that encodes the KIBRA protein critical for long-term potentiation and memory consolidation has previously been associated with EM performance, as well as differences in hippocampal engagement during EM tasks using functional magnetic resonance imaging (fMRI). In the current study, we explore the effect of this polymorphism on EM-related activity and cognitive performance across the adult life span using fMRI...
May 1, 2014: Biological Psychiatry
Angela Vogt-Eisele, Carola Krüger, Kerstin Duning, Daniela Weber, Robert Spoelgen, Claudia Pitzer, Christian Plaas, Gisela Eisenhardt, Annette Meyer, Gerhard Vogt, Markus Krieger, Eva Handwerker, Dirk Oliver Wennmann, Thomas Weide, Boris V Skryabin, Matthias Klugmann, Hermann Pavenstädt, Matthew J Huentelmann, Joachim Kremerskothen, Armin Schneider
The WWC1 gene has been genetically associated with human episodic memory performance, and its product KIdney/BRAin protein (KIBRA) has been shown to interact with the atypical protein kinase protein kinase M ζ (PKMζ). Although recently challenged, PKMζ remains a candidate postsynaptic regulator of memory maintenance. Here, we show that PKMζ is subject to rapid proteasomal degradation and that KIBRA is both necessary and sufficient to counteract this process, thus stabilizing the kinase and maintaining its function for a prolonged time...
March 2014: Journal of Neurochemistry
Sarah Wilker, Thomas Elbert, Iris-Tatjana Kolassa
A good memory for emotionally arousing experiences may be intrinsically adaptive, as it helps the organisms to predict safety and danger and to choose appropriate responses to prevent potential harm. However, under conditions of repeated exposure to traumatic stressors, strong emotional memories of these experiences can lead to the development of trauma-related disorders such as posttraumatic stress disorder (PTSD). This syndrome is characterized by distressing intrusive memories that can be so intense that the survivor is unable to discriminate past from present experiences...
July 2014: Neurobiology of Learning and Memory
Nicolas W Schuck, Christian F Doeller, Brit-Maren M Schjeide, Julia Schröder, Peter A Frensch, Lars Bertram, Shu-Chen Li
Spatial navigation relies on multiple mnemonic mechanisms and previous work in younger adults has described two separate types of spatial memory. One type uses directional as well as boundary-related information for spatial memory and mainly implicates the hippocampal formation. The other type has been linked to directional and landmark-related information and primarily involves the striatum. Using a virtual reality navigation paradigm, we studied the impacts of aging and a single nucleotide polymorphism (SNP rs17070145) of the KIBRA gene (official name: WWC1) on these memory forms...
October 2013: Hippocampus
Sarah Wilker, Stephan Kolassa, Christian Vogler, Birke Lingenfelder, Thomas Elbert, Andreas Papassotiropoulos, Dominique J-F de Quervain, Iris-Tatjana Kolassa
BACKGROUND: Posttraumatic stress disorder (PTSD) results from the formation of a strong memory for the sensory-perceptual and affective representations of traumatic experiences, which is detached from the corresponding autobiographical context information. Because WWC1, the gene encoding protein KIBRA, is associated with long-term memory performance, we hypothesized that common WWC1 alleles influence the risk for a lifetime diagnosis of PTSD. METHODS: Traumatic load and diagnosis of current and lifetime PTSD were assessed in two independent African samples of survivors from conflict zones who had faced severe trauma (n = 392, Rwanda, and n = 399, Northern Uganda, respectively)...
November 1, 2013: Biological Psychiatry
Masaru Katoh
FAT1, FAT2, FAT3 and FAT4 are human homologs of Drosophila Fat, which is involved in tumor suppression and planar cell polarity (PCP). FAT1 and FAT4 undergo the first proteolytic cleavage by Furin and are predicted to undergo the second cleavage by γ‑secretase to release intracellular domain (ICD). Ena/VAPS‑binding to FAT1 induces actin polymerization at lamellipodia and filopodia to promote cell migration, while Scribble‑binding to FAT1 induces phosphorylation and functional inhibition of YAP1 to suppress cell growth...
December 2012: International Journal of Oncology
Annette Milnik, Angela Heck, Christian Vogler, Hans-Jochen Heinze, Dominique J-F de Quervain, Andreas Papassotiropoulos
WWC1 was first implicated in human cognition through a genome wide association study in 2006 that reported an association of the intronic single nucleotide polymorphism (SNP) rs17070145 with episodic memory performance. WWC1 encodes the protein KIBRA, which is almost ubiquitously expressed. Together with its binding partners, KIBRA is assumed to play a role in synaptic plasticity. T-allele carriers of SNP rs17070145 have been reported to outperform individuals that are homozygous for the C-allele in episodic memory tasks...
December 2012: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Kevin C H Ha, Emilie Lalonde, Lili Li, Luca Cavallone, Rachael Natrajan, Maryou B Lambros, Costas Mitsopoulos, Jarle Hakas, Iwanka Kozarewa, Kerry Fenwick, Chris J Lord, Alan Ashworth, Anne Vincent-Salomon, Mark Basik, Jorge S Reis-Filho, Jacek Majewski, William D Foulkes
BACKGROUND: Gene fusions arising from chromosomal translocations have been implicated in cancer. However, the role of gene fusions in BRCA1-related breast cancers is not well understood. Mutations in BRCA1 are associated with an increased risk for breast cancer (up to 80% lifetime risk) and ovarian cancer (up to 50%). We sought to identify putative gene fusions in the transcriptomes of these cancers using high-throughput RNA sequencing (RNA-Seq). METHODS: We used Illumina sequencing technology to sequence the transcriptomes of five BRCA1-mutated breast cancer cell lines, three BRCA1-mutated primary tumors, two secretory breast cancer primary tumors and one non-tumorigenic breast epithelial cell line...
2011: BMC Medical Genomics
Traci L Pawlowski, Matthew J Huentelman
Genome-wide association studies (GWAS) are an important tool for discovering novel genes associated with disease or traits. Careful design of case-control groups greatly facilitates the efficacy of these studies. Here we describe a pooled GWAS study undertaken to find novel genes associated with human episodic memory performance. A genomic locus for the WW and C2 domain-containing 1 protein, KIBRA (also known as WWC1), was found to be associated with memory performance in three cognitively normal cohorts from Switzerland and the USA...
2011: Methods in Molecular Biology
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