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https://www.readbyqxmd.com/read/28648202/a-review-on-autosomal-dominant-tubulointerstitial-kidney-disease
#1
Nadia Ayasreh Fierro, Rosa Miquel Rodríguez, Ana Matamala Gastón, Elisabet Ars Criach, Roser Torra Balcells
In recent years there has been a reclassification of hereditary tubulointerstitial renal diseases. The old concepts of nephronoptisis or medullary cystic disease have been reordered based on the discovery of new genes. The 2015 KDIGO guidelines proposed a unification of terminology, diagnostic criteria and monitoring. So far 4genes causing autosomal dominant tubulointerstitial kidney disease have been described: MUC1, UMOD, HNF1B and REN. Although the mutation in each of them causes distinctive features in how they present, all have in common the progressive tubulointerstitial damage and renal fibrosis...
May 2017: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/28622163/novel-roles-for-mucin-1-in-the-kidney
#2
Mohammad M Al-Bataineh, Timothy A Sutton, Rebecca P Hughey
PURPOSE OF REVIEW: Recent studies in the kidney have revealed that the well characterized tumor antigen mucin 1 (MUC1/Muc1) also has numerous functions in the normal and injured kidney. RECENT FINDINGS: Mucin 1 is a transmembrane mucin with a robust glycan-dependent apical targeting signal and efficient recycling from endosomes. It was recently reported that the TRPV5 calcium channel is stabilized on the cell surface by galectin-dependent cross-linking to mucin 1, providing a novel mechanism for regulation of ion channels and normal electrolyte balance...
September 2017: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/28575854/genomic-alterations-in-mucins-across-cancers
#3
Ryan J King, Fang Yu, Pankaj K Singh
The significance of mucins in cancers has led to the development of novel biomarkers and therapeutic agents against cancers. Despite significant advances in the understanding of mucins, systemic investigations into the role of mucins in cancer biology focusing particularly on the histological subtypes and stages, along with other variables, are yet to be carried out to discover potential novel functions and cancer-specific roles. Here, we investigated 11 mucin expressing cancers for DNA mutations, mRNA expression, copy number, methylation, and the impacts these genomic features may have on patient survival by utilizing The Cancer Genome Atlas dataset...
May 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/28366875/dual-role-of-muc1-mucin-in-kidney-ischemia-reperfusion-injury-nephroprotector-in-early-phase-but-pro-fibrotic-in-late-phase
#4
Jean-Baptiste Gibier, Brigitte Hémon, Mélanie Fanchon, Kelly Gaudelot, Nicolas Pottier, Bélinda Ringot, Isabelle Van Seuningen, François Glowacki, Christelle Cauffiez, David Blum, Marie-Christine Copin, Michaël Perrais, Viviane Gnemmi
Acute kidney injury (AKI) is characterized by acute tubular necrosis (ATN) which involves mainly proximal tubules. Past AKI is associated with higher risk of chronic kidney disease (CKD). The MUC1 mucin is a large glycoprotein responsible for epithelial protection and locates to convoluted distal tubules and collecting ducts. Since MUC1 activates the epithelial-mesenchymal transition (EMT) in carcinoma cells, we hypothesized that MUC1 could be involved in epithelial tubular cell plasticity, a process that not only accompanies epithelial repair, but also participates into kidney fibrosis, histological substratum of CKD...
March 31, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28284384/autosomal-dominant-tubulointerstitial-kidney-disease
#5
REVIEW
Anthony J Bleyer, Kendrah Kidd, Martina Živná, Stanislav Kmoch
There are 3 major forms of autosomal dominant tubulointerstitial kidney disease (ADTKD): ADTKD due to UMOD mutations, MUC1 mutations, and mutations in the REN gene encoding renin. Lack of knowledge about these conditions contributes to frequent nondiagnosis, but with even limited knowledge, nephrologists can easily obtain a diagnosis and improve patient care. There are 3 cardinal features of these disorders: (1) the conditions are inherited in an autosomal dominant manner and should be considered whenever both a parent and child suffer from kidney disease; the presence of even more affected family members provides further support...
March 2017: Advances in Chronic Kidney Disease
https://www.readbyqxmd.com/read/27392076/heterozygous-loss-of-function-sec61a1-mutations-cause-autosomal-dominant-tubulo-interstitial-and-glomerulocystic-kidney-disease-with-anemia
#6
Nikhita Ajit Bolar, Christelle Golzio, Martina Živná, Gaëlle Hayot, Christine Van Hemelrijk, Dorien Schepers, Geert Vandeweyer, Alexander Hoischen, Jeroen R Huyghe, Ann Raes, Erve Matthys, Emiel Sys, Myriam Azou, Marie-Claire Gubler, Marleen Praet, Guy Van Camp, Kelsey McFadden, Igor Pediaditakis, Anna Přistoupilová, Kateřina Hodaňová, Petr Vyleťal, Hana Hartmannová, Viktor Stránecký, Helena Hůlková, Veronika Barešová, Ivana Jedličková, Jana Sovová, Aleš Hnízda, Kendrah Kidd, Anthony J Bleyer, Richard S Spong, Johan Vande Walle, Geert Mortier, Han Brunner, Lut Van Laer, Stanislav Kmoch, Nicholas Katsanis, Bart L Loeys
Autosomal-dominant tubulo-interstitial kidney disease (ADTKD) encompasses a group of disorders characterized by renal tubular and interstitial abnormalities, leading to slow progressive loss of kidney function requiring dialysis and kidney transplantation. Mutations in UMOD, MUC1, and REN are responsible for many, but not all, cases of ADTKD. We report on two families with ADTKD and congenital anemia accompanied by either intrauterine growth retardation or neutropenia. Ultrasound and kidney biopsy revealed small dysplastic kidneys with cysts and tubular atrophy with secondary glomerular sclerosis, respectively...
July 7, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27179249/preparation-and-evaluation-of-the-tumor-specific-antigen-derived-synthetic-mucin-1-peptide-a-potential-candidate-for-the-targeting-of-breast-carcinoma
#7
Subhani M Okarvi, Ibrahim Al Jammaz
PURPOSE: The goal of this study was to prepare a synthetic peptide derived from breast tumor associated antigen and to evaluate its potential as a breast cancer imaging agent. METHODS: A mucin 1 derived peptide was synthesized by solid-phase peptide synthesis and examined for its radiochemical and metabolic stability. The tumor cell binding affinity of (99m)Tc-MUC1 peptide was investigated on MUC1-positive T47D and MCF7 breast cancer cell lines. In vivo biodistribution was studied in normal Balb/c mice and in vivo tumor targeting and imaging in MCF7 and T47D tumor-bearing nude mice...
July 2016: Nuclear Medicine and Biology
https://www.readbyqxmd.com/read/27157321/development-and-validation-of-a-mass-spectrometry-based-assay-for-the-molecular-diagnosis-of-mucin-1-kidney-disease
#8
Brendan Blumenstiel, Matthew DeFelice, Ozge Birsoy, Anthony J Bleyer, Stanislav Kmoch, Todd A Carter, Andreas Gnirke, Kendrah Kidd, Heidi L Rehm, Lucienne Ronco, Eric S Lander, Stacey Gabriel, Niall J Lennon
Mucin-1 kidney disease, previously described as medullary cystic kidney disease type 1 (MCKD1, OMIM 174000), is an autosomal dominant tubulointerstitial kidney disease recently shown to be caused by a single-base insertion within the variable number tandem repeat region of the MUC1 gene. Because of variable age of disease onset and often subtle signs and symptoms, clinical diagnosis of mucin-1 kidney disease and differentiation from other forms of hereditary kidney disease have been difficult. The causal insertion resides in a variable number tandem repeat region with high GC content, which has made detection by standard next-generation sequencing impossible to date...
July 2016: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/27036738/mucin-1-increases-renal-trpv5-activity-in-vitro-and-urinary-level-associates-with-calcium-nephrolithiasis-in-patients
#9
Mingzhu Nie, Manjot S Bal, Zhufeng Yang, Jie Liu, Carolina Rivera, Andrea Wenzel, Bodo B Beck, Khashayar Sakhaee, Denise K Marciano, Matthias T F Wolf
Hypercalciuria is a major risk factor for nephrolithiasis. We previously reported that Uromodulin (UMOD) protects against nephrolithiasis by upregulating the renal calcium channel TRPV5. This channel is crucial for calcium reabsorption in the distal convoluted tubule (DCT). Recently, mutations in the gene encoding Mucin-1 (MUC1) were found to cause autosomal dominant tubulointerstitial kidney disease, the same disease caused by UMOD mutations. Because of the similarities between UMOD and MUC1 regarding associated disease phenotype, protein structure, and function as a cellular barrier, we examined whether urinary MUC1 also enhances TRPV5 channel activity and protects against nephrolithiasis...
November 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/26943180/testing-for-the-cytosine-insertion-in-the-vntr-of-the-muc1-gene-in-a-cohort-of-italian-patients-with-autosomal-dominant-tubulointerstitial-kidney-disease
#10
Claudio Musetti, Deepak Babu, Ileana Fusco, Simona Mellone, Andrea Zonta, Marco Quaglia, Vincenzo Cantaluppi, Piero Stratta, Mara Giordano
INTRODUCTION: Medullary cystic kidney disease type 1 (MCKD1; OMIM #174000) is a familial progressive tubule-interstitial nephropathy belonging to the recently defined group of autosomal dominant tubulointerstitial kidney diseases (ADTKD). CASE REPORT: A specific type of cytosine insertion in the extracellular variable number tandem repeat (VNTR) domain of the MUC1 gene causing the disease was tested in a group of 21 families with ADTKD. We identified this type of MUC1 mutation in two families, whose affected members are described in detail in this case report...
June 2016: Journal of Nephrology
https://www.readbyqxmd.com/read/25925251/muc1-is-protective-during-kidney-ischemia-reperfusion-injury
#11
Núria M Pastor-Soler, Timothy A Sutton, Henry E Mang, Carol L Kinlough, Sandra J Gendler, Cathy S Madsen, Sheldon I Bastacky, Jacqueline Ho, Mohammad M Al-Bataineh, Kenneth R Hallows, Sucha Singh, Satdarshan P Monga, Hanako Kobayashi, Volker H Haase, Rebecca P Hughey
Ischemia-reperfusion injury (IRI) due to hypotension is a common cause of human acute kidney injury (AKI). Hypoxia-inducible transcription factors (HIFs) orchestrate a protective response in renal endothelial and epithelial cells in AKI models. As human mucin 1 (MUC1) is induced by hypoxia and enhances HIF-1 activity in cultured epithelial cells, we asked whether mouse mucin 1 (Muc1) regulates HIF-1 activity in kidney tissue during IRI. Whereas Muc1 was localized on the apical surface of the thick ascending limb, distal convoluted tubule, and collecting duct in the kidneys of sham-treated mice, Muc1 appeared in the cytoplasm and nucleus of all tubular epithelia during IRI...
June 15, 2015: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/25841250/white-and-dark-kidney-beans-reduce-colonic-mucosal-damage-and-inflammation-in-response-to-dextran-sodium-sulfate
#12
COMPARATIVE STUDY
Jennifer M Monk, Claire P Zhang, Wenqing Wu, Leila Zarepoor, Jenifer T Lu, Ronghua Liu, K Peter Pauls, Geoffrey A Wood, Rong Tsao, Lindsay E Robinson, Krista A Power
Common beans are a rich source of nondigestible fermentable components and phenolic compounds that have anti-inflammatory effects. We assessed the gut-health-promoting potential of kidney beans in healthy mice and their ability to attenuate colonic inflammation following dextran sodium sulphate (DSS) exposure (via drinking water, 2% DSS w/v, 7 days). C57BL/6 mice were fed one of three isocaloric diets: basal diet control (BD), or BD supplemented with 20% cooked white (WK) or dark red kidney (DK) bean flour for 3 weeks...
July 2015: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/25800980/immunohistochemical-markers-of-stem-progenitor-cells-in-the-developing-human-kidney
#13
Alice Sanna, Vassilios Fanos, Clara Gerosa, Laura Vinci, Melania Puddu, Cristina Loddo, Gavino Faa
The aim of this study was to better define, by immunohistochemistry, the molecular markers of renal stem/progenitor cells localized in the different niches of ten human preterm kidneys with gestational age ranging from 11 up to 25 weeks. Our data evidence the existence of multiple stem/progenitor pools in different zones of the human developing kidney that are characterized by different phenotypes: capsular stem cells were EMA (MUC1)+, MDM2+, Vimentin+ and Wnt1+; progenitors of the sub-capsular nephrogenic zone were MDM2+ and Wnt1+; cap mesenchymal cells were EMA (MUC1)+, CD15+, vimentin+, Wt1+, CD10+, Bcl2+, Wnt1+ and PAX2+; interstitial progenitor cells were Vimentin+, Wt1+ and α1Anti-tripsin+...
May 2015: Acta Histochemica
https://www.readbyqxmd.com/read/25168494/autosomal-dominant-tubulointerstitial-kidney-disease-of-names-and-genes
#14
COMMENT
Anthony J Bleyer, Stanislav Kmoch
Autosomal dominant tubulointerstitial kidney disease (ADTKD) refers to a group of conditions characterized by autosomal dominant inheritance, a bland urinary sediment with minimal blood and protein, pathologic changes of tubular and interstitial fibrosis, and slowly progressive chronic kidney disease. This commentary discusses recent advances in our medical knowledge of these conditions, including the recent identification of mutations in the MUC1 gene as a cause of ADTKD and changes in terminology proposed by Ekici et al...
September 2014: Kidney International
https://www.readbyqxmd.com/read/25168392/intravenous-injection-of-mva-virus-targets-cd8-lymphocytes-to-tumors-to-control-tumor-growth-upon-combinatorial-treatment-with-a-tlr9-agonist
#15
Laetitia Fend, Tanja Gatard-Scheikl, Jacqueline Kintz, Murielle Gantzer, Emmanuelle Schaedler, Karola Rittner, Sandrine Cochin, Sylvie Fournel, Xavier Préville
Effector T-cell access to tumor tissue is a limiting step for clinical efficacy of antigen-specific T cell-based immunotherapies. Ectopic mouse tumor models, in which a subcutaneously (s.c.) implanted tumor is treated with s.c. or intramuscular therapeutic immunization, may not be optimal for targeting effector T cells to an organ-borne tumor. We used an orthotopic renal carcinoma model to evaluate the impact of injection routes on therapeutic efficacy of a Modified Vaccinia virus Ankara viral vector expressing the human mucin 1 tumor-associated xeno-antigen (MVA-MUC1)...
December 2014: Cancer Immunology Research
https://www.readbyqxmd.com/read/25091607/huge-clusters-of-embryonic-stem-cells-in-human-embryos-a-morphologic-study
#16
Tadashi Terada
BACKGROUND: Nothing is known about huge clusters (HC) of embryonic stem cells (ESC) in human fetal organs (HFO). AIM: To know the status of HC-ESC in HFO. METHODS: Morphology and immunohistochemistry (IHC) in 32 HFO of 7-40 gestational weeks (GW). RESULTS: HC-ESC were seen in many HFO including central nervous system, spinal cords, spine, soft tissue, bone, skin, thyroid, lung, liver, pancreas, gall bladder, extrahepatic bile duct, adrenal, kidney, bladder, foregut, midgut, hindgut, female and male genital organs, and neurons...
October 2014: Microscopy Research and Technique
https://www.readbyqxmd.com/read/24693944/muc1-regulates-epithelial-inflammation-and-apoptosis-by-polyi-c-through-inhibition-of-toll-il-1-receptor-domain-containing-adapter-inducing-ifn-%C3%AE-trif-recruitment-to-toll-like-receptor-3
#17
Kosuke Kato, Erik P Lillehoj, Kwang Chul Kim
MUC1/Muc1 (MUC1 in humans, Muc1 in animals) is a membrane-tethered mucin expressed by airway epithelial cells and plays an antiinflammatory role during airway bacterial infection. We previously demonstrated that MUC1/Muc1 is a negative regulator of Toll-like receptor (TLR) inflammatory signaling mediated through the myeloid differentiation primary response gene 88 (MyD88) adaptor protein. In the present study, we determined whether MUC1 regulates MyD88-independent TLR signaling mediated through the TLR3-Toll/IL-1 receptor-domain-containing adapter-inducing IFN-β (TRIF) pathway in response to poly(I:C)...
September 2014: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/24670410/renal-fibrosis-is-the-common-feature-of-autosomal-dominant-tubulointerstitial-kidney-diseases-caused-by-mutations-in-mucin-1-or-uromodulin
#18
Arif B Ekici, Thomas Hackenbeck, Vincent Morinière, Andrea Pannes, Maike Buettner, Steffen Uebe, Rolf Janka, Antje Wiesener, Ingo Hermann, Sina Grupp, Martin Hornberger, Tobias B Huber, Nikky Isbel, George Mangos, Stella McGinn, Daniela Soreth-Rieke, Bodo B Beck, Michael Uder, Kerstin Amann, Corinne Antignac, André Reis, Kai-Uwe Eckardt, Michael S Wiesener
For decades, ill-defined autosomal dominant renal diseases have been reported, which originate from tubular cells and lead to tubular atrophy and interstitial fibrosis. These diseases are clinically indistinguishable, but caused by mutations in at least four different genes: UMOD, HNF1B, REN, and, as recently described, MUC1. Affected family members show renal fibrosis in the biopsy and gradually declining renal function, with renal failure usually occurring between the third and sixth decade of life. Here we describe 10 families and define eligibility criteria to consider this type of inherited disease, as well as propose a practicable approach for diagnosis...
September 2014: Kidney International
https://www.readbyqxmd.com/read/24509297/variable-clinical-presentation-of-an-muc1-mutation-causing-medullary-cystic-kidney-disease-type-1
#19
Anthony J Bleyer, Stanislav Kmoch, Corinne Antignac, Vicki Robins, Kendrah Kidd, John R Kelsoe, Gerald Hladik, Philip Klemmer, Stephen J Knohl, Steven J Scheinman, Nam Vo, Ann Santi, Alese Harris, Omar Canaday, Nelson Weller, Peter J Hulick, Kristen Vogel, Frederick F Rahbari-Oskoui, Jennifer Tuazon, Constantinos Deltas, Douglas Somers, Andre Megarbane, Paul L Kimmel, C John Sperati, Avi Orr-Urtreger, Shay Ben-Shachar, David A Waugh, Stella McGinn, Anthony J Bleyer, Katerina Hodanová, Petr Vylet'al, Martina Živná, Thomas C Hart, P Suzanne Hart
BACKGROUND AND OBJECTIVES: The genetic cause of medullary cystic kidney disease type 1 was recently identified as a cytosine insertion in the variable number of tandem repeat region of MUC1 encoding mucoprotein-1 (MUC1), a protein that is present in skin, breast, and lung tissue, the gastrointestinal tract, and the distal tubules of the kidney. The purpose of this investigation was to analyze the clinical characteristics of families and individuals with this mutation. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Families with autosomal dominant interstitial kidney disease were referred for genetic analysis over a 14-year period...
March 2014: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/24384091/muc1-drives-epithelial-mesenchymal-transition-in-renal-carcinoma-through-wnt-%C3%AE-catenin-pathway-and-interaction-with-snail-promoter
#20
Viviane Gnemmi, Audrey Bouillez, Kelly Gaudelot, Brigitte Hémon, Bélinda Ringot, Nicolas Pottier, François Glowacki, Arnauld Villers, David Vindrieux, Christelle Cauffiez, Isabelle Van Seuningen, David Bernard, Xavier Leroy, Sébastien Aubert, Michaël Perrais
MUC1 is overexpressed in human carcinomas. The transcription factor SNAIL can activate epithelial-mesenchymal transition (EMT) in cancer cells. In this study, in renal carcinoma, we demonstrate that (i) MUC1 and SNAIL were overexpressed in human sarcomatoid carcinomas, (ii) SNAIL increased indirectly MUC1 expression, (iii) MUC1 overexpression induced EMT, (iv) MUC1 C-terminal domain (MUC1-C) and β-catenin increased SNAIL transcriptional activity by interaction with its promoter and (v) blocking MUC1-C nuclear localization decreased Wnt/β-catenin signaling pathway activation and SNAIL expression...
May 1, 2014: Cancer Letters
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