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https://www.readbyqxmd.com/read/27909759/continuous-hydrostatic-pressure-induces-differentiation-phenomena-in-chondrocytes-mediated-by-changes-in-polycystins-sox9-and-runx2
#1
Konstantinos Karamesinis, Anastasia Spyropoulou, Georgia Dalagiorgou, Maria A Katsianou, Marjan Nokhbehsaim, Svenja Memmert, James Deschner, Heleni Vastardis, Christina Piperi
PURPOSE: The present study aimed to investigate the long-term effects of hydrostatic pressure on chondrocyte differentiation, as indicated by protein levels of transcription factors SOX9 and RUNX2, on transcriptional activity of SOX9, as determined by pSOX9 levels, and on the expression of polycystin-encoding genes Pkd1 and Pkd2. MATERIALS AND METHODS: ATDC5 cells were cultured in insulin-supplemented differentiation medium (ITS) and/or exposed to 14.7 kPa of hydrostatic pressure for 12, 24, 48, and 96 h...
December 1, 2016: Journal of Orofacial Orthopedics, Fortschritte der Kieferorthopädie
https://www.readbyqxmd.com/read/27858251/methodological-issues-in-clinical-trials-of-polycystic-kidney-disease-a-focused-review
#2
REVIEW
Ioan-Andrei Iliuta, Abhijat Kitchlu, York Pei
The field of therapeutics in autosomal dominant polycystic kidney disease (ADPKD) has seen a significant expansion recently, as major clinical trials have provided promising evidence in favor of new disease-modifying drugs. Though these trials are encouraging, limitations are noticeable in the form of methodological issues that restrict the interpretation of results. In this review, we discuss the methodological pitfalls of high-profile clinical interventional trials for ADPKD which have been published since 2009...
November 17, 2016: Journal of Nephrology
https://www.readbyqxmd.com/read/27843768/functional-alterations-due-to-amino-acid-changes-and-evolutionary-comparative-analysis-of-arpkd-and-adpkd-genes
#3
Burhan M Edrees, Mohammad Athar, Zainularifeen Abduljaleel, Faisal A Al-Allaf, Mohiuddin M Taher, Wajahatullah Khan, Abdellatif Bouazzaoui, Naffaa Al-Harbi, Ramzia Safar, Howaida Al-Edressi, Khawala Alansary, Abulkareem Anazi, Naji Altayeb, Muawia A Ahmed
A targeted customized sequencing of genes implicated in autosomal recessive polycystic kidney disease (ARPKD) phenotype was performed to identify candidate variants using the Ion torrent PGM next-generation sequencing. The results identified four potential pathogenic variants in PKHD1 gene [c.4870C > T, p.(Arg1624Trp), c.5725C > T, p.(Arg1909Trp), c.1736C > T, p.(Thr579Met) and c.10628T > G, p.(Leu3543Trp)] among 12 out of 18 samples. However, one variant c.4870C > T, p.(Arg1624Trp) was common among eight patients...
December 2016: Genomics Data
https://www.readbyqxmd.com/read/27835667/technical-evaluation-identification-of-pathogenic-mutations-in-pkd1-and-pkd2-in-patients-with-autosomal-dominant-polycystic-kidney-disease-by-next-generation-sequencing-and-use-of-a-comprehensive-new-classification-system
#4
Moritoshi Kinoshita, Eiji Higashihara, Haruna Kawano, Ryo Higashiyama, Daisuke Koga, Takafumi Fukui, Nobuhisa Gondo, Takehiko Oka, Kozo Kawahara, Krisztina Rigo, Tim Hague, Kiyonori Katsuragi, Kimiyoshi Sudo, Masahiko Takeshi, Shigeo Horie, Kikuo Nutahara
Genetic testing of PKD1 and PKD2 is expected to play an increasingly important role in determining allelic influences in autosomal dominant polycystic kidney disease (ADPKD) in the near future. However, to date, genetic testing is not commonly employed because it is expensive, complicated because of genetic heterogeneity, and does not easily identify pathogenic variants. In this study, we developed a genetic testing system based on next-generation sequencing (NGS), long-range polymerase chain reaction, and a new software package...
2016: PloS One
https://www.readbyqxmd.com/read/27796018/-adpkd-predictors-of-renal-disease-progression
#5
Francesco Scolari, Nadia Dallera, Arianna Saletti, Vincenzo Terlizzi, Claudia Izzi
Factors predicting rapid progression of kidney disease in ADPKD can be divided into genetic (non-modifiable) and clinical (modifiable) risk factors. Patients harbouring PKD1 mutations, in particular if truncating, have a more severe form of ADPKD. Clinical risk factors include decrease in glomerular filtration rate and renal blood flow at a young age; high total kidney volume; hypertension and urological complications <35 years; albuminuria/proteinuria. The renal disease is also more severe in males and in subjects with family history of ESRD <55 years...
September 2016: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/27793600/is-it-time-to-fold-the-cysts-away
#6
Matteus Krappitz, Anna-Rachel Gallagher, Sorin Fedeles
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 and PKD2, encoding polycystin-1 and polycystin-2, respectively. Optimizing the folding environment for polycystin-1 missense mutations may have a critical effect on the progression of ADPKD in animal models and could potentially lead to tangible therapeutic options for subgroups of ADPKD patients.
December 2016: Trends in Molecular Medicine
https://www.readbyqxmd.com/read/27782177/system-analysis-of-gene-mutations-and-clinical-phenotype-in-chinese-patients-with-autosomal-dominant-polycystic-kidney-disease
#7
Meiling Jin, Yuansheng Xie, Zhiqiang Chen, Yujie Liao, Zuoxiang Li, Panpan Hu, Yan Qi, Zhiwei Yin, Qinggang Li, Ping Fu, Xiangmei Chen
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder mainly caused by mutation in PKD1/PKD2. However, ethnic differences in mutations, the association between mutation genotype/clinical phenotype, and the clinical applicable value of mutation detection are poorly understood. We made systematically analysis of Chinese ADPKD patients based on a next-generation sequencing platform. Among 148 ADPKD patients enrolled, 108 mutations were detected in 127 patients (85.8%)...
October 26, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27775029/protein-kinase-d1-regulates-focal-adhesion-dynamics-and-cell-adhesion-through-phosphatidylinositol-4-phosphate-5-kinase-type-l-%C3%AE
#8
Nisha Durand, Ligia I Bastea, Jason Long, Heike Döppler, Kun Ling, Peter Storz
Focal adhesions (FAs) are highly dynamic structures that are assembled and disassembled on a continuous basis. The balance between the two processes mediates various aspects of cell behavior, ranging from cell adhesion and spreading to directed cell migration. The turnover of FAs is regulated at multiple levels and involves a variety of signaling molecules and adaptor proteins. In the present study, we show that in response to integrin engagement, a subcellular pool of Protein Kinase D1 (PKD1) localizes to the FAs...
October 24, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27760766/the-native-trpp2-dependent-channel-of-murine-renal-primary-cilia
#9
Steven J Kleene, Nancy K Kleene
Autosomal dominant polycystic kidney disease (ADPKD) is the most common life-threatening monogenic renal disease. ADPKD results from mutations in either of two proteins: polycystin-1 (also known as PC1 or PKD1) or transient receptor potential cation channel, subfamily P, member 2 (TRPP2, also known as polycystin-2, PC2, or PKD2). Each of these proteins is expressed in the primary cilium that extends from many renal epithelial cells. Existing evidence suggests that the cilium can promote renal cystogenesis, while PC1 and TRPP2 counter this cystogenic effect...
October 19, 2016: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/27730436/validation-of-effective-therapeutic-targets-for-adpkd-using-animal-models
#10
Yu Mi Woo, Je Yeong Ko, Eun Ji Lee
Various polycystic kidney disease (PKD) animal models including Pkd1- or Pkd2-deficient mice have been developed and efficiently utilized to identify novel therapeutic targets as well as elucidate multiple mechanisms of cyst formation in PKD. Based on several successful in vivo studies, preclinical approaches using PKD animal models would shed light on the development of potential therapeutic strategies for PKD. Here, we provide an update on the current evidence obtained by the in vivo evaluation of PKD therapeutic candidates and discuss the effect of therapeutic targets...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27730432/cell-proliferation-and-apoptosis-in-adpkd
#11
Eun Ji Lee
Increased tubular epithelial cell proliferation with fluid secretion is a key hallmark of autosomal dominant polycystic kidney disease (ADPKD). With disruption of either PKD1 or PKD2, the main causative genes of ADPKD, intracellular calcium homeostasis and cAMP accumulation are disrupted, which in turn leads to altered signaling in the pathways that regulate cell proliferation. These dysregulations finally stimulate the development of fluid-filled cysts originating from abnormally proliferating renal tubular cells...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27730431/genetic-mechanisms-of-adpkd
#12
Do Yeon Kim, Jong Hoon Park
Autosomal dominant polycystic kidney disease is caused by mutation of PKD1 (polycystic kidney disease-1) or PKD2 (polycystic kidney disease-2). PKD1 and PKD2 encode PC1 (polycystin-1) and PC2 (polycystin-2), respectively. In addition, the mutation of cilia-associated proteins is also a recognized major factor of pathogenesis, since PC1 and PC2 are located in primary cilium. Abnormalities of PC1 or PC2 lead to aberrant signaling through downstream pathways, such as the negative growth regulation, G protein activation, and canonical and non-canonical Wnt pathways...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27730430/recent-trends-in-adpkd-research
#13
Yu Bin Shin, Jong Hoon Park
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common inherited disorders. It is the fourth leading cause of renal replacement and renal failure worldwide. Mutations in PKD1 or PKD2 cause ADPKD. Patients with ADPKD show progressive growth of renal cysts filled with cystic fluid, leading to end-stage renal disease (ESRD) and renal failure by their sixth decade of life. Currently, there are no curative treatments for ADPKD. Therefore, patients require dialysis or kidney transplantation...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27701376/predictors-of-rapid-disease-progression-in-autosomal-dominant-polycystic-kidney-disease
#14
Valentina Corradi, Fiorella Gastaldon, Carlotta Caprara, Anna Giuliani, Francesca Martino, Fiorenza Ferrari, Claudio Ronco
INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic diseases with a reported prevalence of 1:400 to 1:1000. Since the intact kidneys can compensate for the loss of glomerular filtration in ADPKD patients, renal insufficiency usually remains undetected until almost the fourth decade of life. Hereafter, reliable diagnostic and prognostic biomarkers to identify ADPKD progression are urgently needed. Several studies and systematic reviews tried to identify markers or predictors of rapid disease progression of ADPKD...
October 4, 2016: Minerva Medica
https://www.readbyqxmd.com/read/27662904/a-novel-conserved-domain-mediates-dimerization-of-protein-kinase-d-pkd-isoforms-dimerization-is-essential-for-pkd-dependent-regulation-of-secretion-and-innate-immunity
#15
Clara Aicart-Ramos, Sophia Dan Qing He, Marianne Land, Charles S Rubin
Protein kinase D (PKD) isoforms are protein kinase C effectors in signaling pathways regulated by diacylglycerol. Important physiological processes (including secretion, immune responses, motility, and transcription) are placed under diacylglycerol control by the distinctive substrate specificity and subcellular distribution of PKDs. Potentially, broadly co-expressed PKD polypeptides may interact to generate homo- or heteromultimeric regulatory complexes. However, the frequency, molecular basis, regulatory significance, and physiological relevance of stable PKD-PKD interactions are largely unknown...
November 4, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27649783/the-prkd1-promoter-is-a-target-of-the-kras-nf-%C3%AE%C2%BAb-pathway-in-pancreatic-cancer
#16
Heike Döppler, Richard Panayiotou, Elizabeth M Reid, Willibroad Maimo, Ligia Bastea, Peter Storz
Increased expression of PRKD1 and its gene product protein kinase D1 (PKD1) are linked to oncogenic signaling in pancreatic ductal adenocarcinoma, but a direct functional relationship to oncogenic KRas has not been established so far. We here describe the PRKD1 gene promoter as a target for oncogenic KRas signaling. We demonstrate that KRas-induced activation of the canonical NF-κB pathway is one mechanism of how PRKD1 expression is increased and identify the binding sites for NF-κB in the PRKD1 promoter...
September 21, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27616478/bi-allelic-mutations-in-pkd1l1-are-associated-with-laterality-defects-in-humans
#17
Francesco Vetrini, Lisa C A D'Alessandro, Zeynep C Akdemir, Alicia Braxton, Mahshid S Azamian, Mohammad K Eldomery, Kathryn Miller, Chelsea Kois, Virginia Sack, Natasha Shur, Asha Rijhsinghani, Jignesh Chandarana, Yan Ding, Judy Holtzman, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Christine M Eng, Neil A Hanchard, Tamar Harel, Jill A Rosenfeld, John W Belmont, James R Lupski, Yaping Yang
Disruption of the establishment of left-right (L-R) asymmetry leads to situs anomalies ranging from situs inversus totalis (SIT) to situs ambiguus (heterotaxy). The genetic causes of laterality defects in humans are highly heterogeneous. Via whole-exome sequencing (WES), we identified homozygous mutations in PKD1L1 from three affected individuals in two unrelated families. PKD1L1 encodes a polycystin-1-like protein and its loss of function is known to cause laterality defects in mouse and medaka fish models...
October 6, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27595512/renal-angiomyolipoma-bleeding-in-a-patient-with-tsc2-pkd1-contiguous-gene-syndrome-after-17-years-of-renal-replacement-therapy
#18
Mónica Furlano, Yaima Barreiro, Teresa Martí, Carme Facundo, César Ruiz-García, Iara DaSilva, Nadia Ayasreh, Cristina Cabrera-López, José Ballarín, Elisabet Ars, Roser Torra
We report the case of a 32-year-old male diagnosed with TSC2/PKD1 contiguous gene syndrome, presenting with tuberous sclerosis (TS) and autosomal dominant polycystic kidney disease simultaneously. He progressed to end-stage renal disease and received a kidney transplant at the age of 12. The native kidneys presented angiomyolipomas (AML), which are common benign tumours in patients with TS. Seventeen years after transplantation, he presented with abdominal pain, anaemia and a retroperitoneal haematoma, the latter caused by renal AML bleeding...
August 29, 2016: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/27594986/autosomal-dominant-polycystic-kidney-disease-recent-advances-in-clinical-management
#19
REVIEW
Zhiguo Mao, Jiehan Chong, Albert C M Ong
The first clinical descriptions of autosomal dominant polycystic kidney disease (ADPKD) go back at least 500 years to the late 16 (th) century. Advances in understanding disease presentation and pathophysiology have mirrored the progress of clinical medicine in anatomy, pathology, physiology, cell biology, and genetics. The identification of PKD1 and PKD2, the major genes mutated in ADPKD, has stimulated major advances, which in turn have led to the first approved drug for this disorder and a fresh reassessment of patient management in the 21 (st) century...
2016: F1000Research
https://www.readbyqxmd.com/read/27591083/loss-of-zeb2-in-mesenchyme-derived-nephrons-causes-primary-glomerulocystic-disease
#20
Hila Milo Rasouly, Sudhir Kumar, Stefanie Chan, Anna Pisarek-Horowitz, Richa Sharma, Qiongchao J Xi, Yuriko Nishizaki, Yujiro Higashi, David J Salant, Richard L Maas, Weining Lu
Primary glomerulocystic kidney disease is a special form of renal cystic disorder characterized by Bowman's space dilatation in the absence of tubular cysts. ZEB2 is a SMAD-interacting transcription factor involved in Mowat-Wilson syndrome, a congenital disorder with an increased risk for kidney anomalies. Here we show that deletion of Zeb2 in mesenchyme-derived nephrons with either Pax2-cre or Six2-cre causes primary glomerulocystic kidney disease without tubular cysts in mice. Glomerulotubular junction analysis revealed many atubular glomeruli in the kidneys of Zeb2 knockout mice, which explains the presence of glomerular cysts in the absence of tubular dilatation...
December 2016: Kidney International
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