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https://www.readbyqxmd.com/read/28393315/identification-and-characterization-of-biomarkers-and-their-functions-for-lapatinib-resistant-breast-cancer
#1
Liang Zhang, Yi Huang, Wenlei Zhuo, Yi Zhu, Bo Zhu, Zhengtang Chen
Lapatinib, a novel oral dual tyrosine kinase inhibitor blocking HER1 and HER2 pathways, has presented beneficial effects on breast cancer with positive HER2. However, its efficacy is largely limited by the occurrence of acquired drug resistance. In this study, we aimed to explore the underlying molecular mechanisms of Lapatinib resistance using bioinformatics strategies. The gene expression profile of SKBR3-R (acquired Lapatinib-resistant) and SKBR3 (Lapatinib-sensitive) cell line was downloaded from gene expression omnibus database...
May 2017: Medical Oncology
https://www.readbyqxmd.com/read/28393022/two-mutations-in-the-transforming-growth-factor-beta-induced-gene-associated-with-familial-lattice-corneal-dystrophy
#2
Wen-Ping Cao, Hai-Gang Yuan, Ping Liu, Xue Li, Qi Hu
AIM: To report a phenotypic variant pedigree of lattice corneal dystrophy (LCD) associated with two mutations, R124C and A546D, in the transforming growth factor beta-induced gene (TGFBI). METHODS: A detailed ocular examination was taken for all participants of a LCD family. Peripheral blood leukocytes from each participant were extracted to obtain the DNA. Polymerase chain reaction (PCR) of all seventeen exons of TGFBI gene was performed. The products were sequenced and analyzed...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28381645/effect-of-position-specific-single-point-mutations-%C3%A2-and-%C3%A2-biophysical-characterization-of-amyloidogenic-peptide-fragments-identified-from-lattice-corneal-dystrophy-%C3%A2-patients
#3
Venkatraman Anandalakshmi, Elavazhagan Murugan, Eunice Tze Leng Goh, Lim Wei Ting, Shyam S Chaurasia, Toshio Yamazaki, Toshio Nagashima, Benjamin Lawrence George, Gary Swee Lim Peh, Konstantin Pervushin, R Lakshminarayanan, Jodhbir S Mehta
Corneal stromal dystrophies are a group of genetic disorders that may be caused by mutations in the TGFBI gene which results in the aggregation and deposition of mutant proteins in various layers of the cornea. The type of amino acid substitution dictates the age of onset, anatomical location of the deposits, morphological features of deposits (amyloid, amorphous powder or a mixture of both forms) and the severity of disease presentation. It has been suggested that abnormal turn over and aberrant proteolytic processing of the mutant proteins results in the accumulation of insoluble protein deposits...
April 5, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28377594/tgfbi-gene-mutation-analysis-of-clinically-diagnosed-granular-corneal-dystrophy-patients-prior-to-ptk-a-pilot-study-from-eastern-china
#4
Li Zeng, Jing Zhao, Yingjun Chen, Feng Zhao, Meiyan Li, Connie Chao-Shern, Tara Moore, John Marshall, Xingtao Zhou
This study investigated the TGFBI gene mutation types in outpatients clinically diagnosed with granular corneal dystrophy (GCD) prior to phototherapeutic keratectomy (PTK), also calculated the mutation rate of subjects with normal corneas, but positive family history. Clinical GCD outpatients and consanguineous family members were enrolled in this study. Among total 42 subjects: 24 patients from 23 unrelated families had typical signs of GCD on corneas; 5 patients from 5 unrelated families had atypical signs; 13 subjects from 11 unrelated families had no corneal signs but positive family history...
April 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28358433/tgfbi-gene-mutations-analysis-in-chinese-families-with-corneal-dystrophies
#5
Xiaojuan Wang, Ming Ying, Changbo Fu, Yuchuan Wang, Ningdong Li
The aim of the present study was to examine the clinical features of three Chinese families with autosomal dominant corneal dystrophy (CD) and examine transforming growth factor‑β‑induced (TGFBI) gene mutations in these families. The TGFBI gene mutations were detected using direct sequencing of the whole coding regions and exon-intron boundaries of the TGFBI gene in the affected members from the three families with CD. The phenotypes of all affected individuals in the three families were observed via slit lamp examination...
May 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28229027/risk-analysis-of-colorectal-cancer-incidence-by-gene-expression-analysis
#6
Wei-Chuan Shangkuan, Hung-Che Lin, Yu-Tien Chang, Chen-En Jian, Hueng-Chuen Fan, Kang-Hua Chen, Ya-Fang Liu, Huan-Ming Hsu, Hsiu-Ling Chou, Chung-Tay Yao, Chi-Ming Chu, Sui-Lung Su, Chi-Wen Chang
BACKGROUND: Colorectal cancer (CRC) is one of the leading cancers worldwide. Several studies have performed microarray data analyses for cancer classification and prognostic analyses. Microarray assays also enable the identification of gene signatures for molecular characterization and treatment prediction. OBJECTIVE: Microarray gene expression data from the online Gene Expression Omnibus (GEO) database were used to to distinguish colorectal cancer from normal colon tissue samples...
2017: PeerJ
https://www.readbyqxmd.com/read/28178326/quantitative-liver-proteomics-identifies-fgf19-targets-that-couple-metabolism-and-proliferation
#7
Vittoria Massafra, Alexandra Milona, Harmjan R Vos, Boudewijn M T Burgering, Saskia W C van Mil
Fibroblast growth factor 19 (FGF19) is a gut-derived peptide hormone that is produced following activation of Farnesoid X Receptor (FXR). FGF19 is secreted and signals to the liver, where it contributes to the homeostasis of bile acid (BA), lipid and carbohydrate metabolism. FGF19 is a promising therapeutic target for the metabolic syndrome and cholestatic diseases, but enthusiasm for its use has been tempered by FGF19-mediated induction of proliferation and hepatocellular carcinoma. To inform future rational design of FGF19-variants, we have conducted temporal quantitative proteomic and gene expression analyses to identify FGF19-targets related to metabolism and proliferation...
2017: PloS One
https://www.readbyqxmd.com/read/28149671/macrophage-tgf-%C3%AE-1-and-the-proapoptotic-extracellular-matrix-protein-bigh3-induce-renal-cell-apoptosis-in-prediabetic-and-diabetic-conditions
#8
Robert J Moritz, Richard G LeBaron, Clyde F Phelix, Rajesha Rupaimoole, Hong Seok Kim, Andrew Tsin, Reto Asmis
Metabolically stressed kidney is in part characterized by infiltrating macrophages and macrophage-derived TGF-β1 that promote the synthesis of various ECM molecules. TGF-β1 strongly enhances the expression of the gene TGFBI that encodes a cell-adhesion class, proapoptotic ECM protein called BIGH3. We hypothesized that in a diabetic environment a relationship between infiltrating macrophages, macrophage-derived TGF-β1, and BIGH3 protein promotes renal cell death. To investigate this hypothesis, we used our mouse model of diabetic complications...
July 2016: International Journal of Clinical Medicine
https://www.readbyqxmd.com/read/28106769/tgf-%C3%AE-signaling-in-gastrointestinal-cancers-progress-in-basic-and-clinical-research
#9
REVIEW
Takehiko Yokobori, Masahiko Nishiyama
Transforming growth factor (TGF)-β superfamily proteins have many important biological functions, including regulation of tissue differentiation, cell proliferation, and migration in both normal and cancer cells. Many studies have reported that TGF-β signaling is associated with disease progression and therapeutic resistance in several cancers. Similarly, TGF-β-induced protein (TGFBI)-a downstream component of the TGF-β signaling pathway-has been shown to promote and/or inhibit cancer. Here, we review the state of basic and clinical research on the roles of TGF-β and TGFBI in gastrointestinal cancers...
January 18, 2017: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/28060069/vortex-pattern-of-corneal-deposits-in-granular-corneal-dystrophy-associated-with-the-p-arg555trp-mutation-in-tgfbi
#10
Jaffer M Kattan, Juan Carlos Serna-Ojeda, Anushree Sharma, Eung K Kim, Arturo Ramirez-Miranda, Marisa Cruz-Aguilar, Aleck E Cervantes, Ricardo F Frausto, Juan Carlos Zenteno, Enrique O Graue-Hernandez, Anthony J Aldave
PURPOSE: To describe 2 unrelated families with multiple members demonstrating a less commonly recognized vortex pattern of corneal deposits confirmed to be granular corneal dystrophy type 1 (GCD1) after identification of the p.(Arg555Trp) mutation in the transforming growth factor β-induced gene (TGFBI). METHODS: A slit-lamp examination was performed on individuals from 2 families, one of Mexican descent and a second of Italian descent. After DNA extraction from affected individuals and their unaffected relatives, TGFBI screening was performed...
February 2017: Cornea
https://www.readbyqxmd.com/read/27992416/genome-wide-association-analyses-of-sleep-disturbance-traits-identify-new-loci-and-highlight-shared-genetics-with-neuropsychiatric-and-metabolic-traits
#11
Jacqueline M Lane, Jingjing Liang, Irma Vlasac, Simon G Anderson, David A Bechtold, Jack Bowden, Richard Emsley, Shubhroz Gill, Max A Little, Annemarie I Luik, Andrew Loudon, Frank A J L Scheer, Shaun M Purcell, Simon D Kyle, Deborah A Lawlor, Xiaofeng Zhu, Susan Redline, David W Ray, Martin K Rutter, Richa Saxena
Chronic sleep disturbances, associated with cardiometabolic diseases, psychiatric disorders and all-cause mortality, affect 25-30% of adults worldwide. Although environmental factors contribute substantially to self-reported habitual sleep duration and disruption, these traits are heritable and identification of the genes involved should improve understanding of sleep, mechanisms linking sleep to disease and development of new therapies. We report single- and multiple-trait genome-wide association analyses of self-reported sleep duration, insomnia symptoms and excessive daytime sleepiness in the UK Biobank (n = 112,586)...
February 2017: Nature Genetics
https://www.readbyqxmd.com/read/27940296/induction-of-type-1-iodothyronine-deiodinase-expression-inhibits-proliferation-and-migration-of-renal-cancer-cells
#12
Piotr Poplawski, Beata Rybicka, Joanna Boguslawska, Katarzyna Rodzik, Theo J Visser, Alicja Nauman, Agnieszka Piekielko-Witkowska
Type 1 iodothyronine deiodinase (DIO1) regulates peripheral metabolism of thyroid hormones that control cellular proliferation, differentiation and metabolism. The significance of DIO1 in cancer is unknown. In this study we hypothesized that diminished expression of DIO1, observed in renal cancer, contributes to the carcinogenic process in the kidney. Here, we demonstrate that ectopic expression of DIO1 in renal cancer cells changes the expression of genes controlling cell cycle, including cyclin E1 and E2F5, and results in inhibition of proliferation...
February 15, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/27829782/genetic-analysis-of-chst6-and-tgfbi-in-turkish-patients-with-corneal-dystrophies-five-novel-variations-in-chst6
#13
Fulya Yaylacioglu Tuncay, Gülsüm Kayman Kurekci, Sezen Guntekin Ergun, Ozge Tugce Pasaoglu, Rustu Fikret Akata, Pervin Rukiye Dincer
PURPOSE: To identify pathogenic variations in carbohydrate sulfotransferase 6 (CHST6) and transforming growth factor, beta-induced (TGFBI) genes in Turkish patients with corneal dystrophy (CD). METHODS: In this study, patients with macular corneal dystrophy (MCD; n = 18), granular corneal dystrophy type 1 (GCD1; n = 12), and lattice corneal dystrophy type 1 (LCD1; n = 4), as well as 50 healthy controls, were subjected to clinical and genetic examinations. The level of antigenic keratan sulfate (AgKS) in the serum samples of patients with MCD was determined with enzyme-linked immunosorbent assay (ELISA) to immunophenotypically subtype the patients as MCD type I and MCD type II...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27781206/a-case-of-transforming-growth-factor-%C3%AE-induced-gene-related-oculorenal-syndrome-granular-corneal-dystrophy-type-ii-with-a-unique-nephropathy
#14
Yoichi Iwafuchi, Tetsuo Morioka, Yuko Oyama, Kandai Nozu, Kazumoto Iijima, Ichiei Narita
Many types of inherited renal diseases have ocular features that occasionally support a diagnosis. The following study describes an unusual example of a 40-year-old woman with granular corneal dystrophy type II complicated by renal involvement. These two conditions may coincidentally coexist; however, there are some reports that demonstrate an association between renal involvement and granular corneal dystrophy type II. Granular corneal dystrophy type II is caused by a mutation in the transforming growth factor-β-induced (TGFBI) gene...
September 2016: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/27741017/vortex-pattern-of-corneal-deposits-in-granular-corneal-dystrophy-associated-with-the-p-argr555wtrp-mutation-in-tgfbi
#15
Jaffer M Kattan, Juan Carlos Serna-Ojeda, Anushree Sharma, Eung K Kim, Arturo Ramirez-Miranda, Marisa Cruz-Aguilar, Aleck E Cervantes, Ricardo F Frausto, Juan Carlos Zenteno, Enrique O Graue-Hernandez, Anthony J Aldave
PURPOSE: To describe 2 unrelated families with multiple members demonstrating a less commonly recognized vortex pattern of corneal deposits confirmed to be granular corneal dystrophy type 1 (GCD1) after identification of the p.(Arg555Trp) mutation in the transforming growth factor β-induced gene (TGFBI). METHODS: A slit-lamp examination was performed on individuals from 2 families, one of Mexican descent and a second of Italian descent. After DNA extraction from affected individuals and their unaffected relatives, TGFBI screening was performed...
October 12, 2016: Cornea
https://www.readbyqxmd.com/read/27737463/genotype-phenotype-correlation-for-tgfbi-corneal-dystrophies-identifies-p-g623d-as-a-novel-cause-of-epithelial-basement-membrane-dystrophy
#16
Cerys J Evans, Alice E Davidson, Nicole Carnt, Karla E Rojas López, Neyme Veli, Caroline M Thaung, Stephen J Tuft, Alison J Hardcastle
Purpose: The majority of anterior corneal dystrophies are caused by dominant mutations in TGFBI (transforming growth factor β-induced) collectively known as the epithelial-stromal TGFBI dystrophies. Most cases of epithelial basement membrane dystrophy (EBMD) are thought to result from a degenerative (nongenetic) process; however, a minority of cases are associated with specific TGFBI mutations. We evaluated the spectrum of TGFBI mutations and associated phenotypes in a United Kingdom cohort with typical epithelial-stromal TGFBI dystrophies and an EBMD cohort...
October 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27622658/sparc-regulates-transforming-growth-factor-beta-induced-tgfbi-extracellular-matrix-deposition-and-paclitaxel-response-in-ovarian-cancer-cells
#17
David A Tumbarello, Melissa R Andrews, James D Brenton
TGFBI has been shown to sensitize ovarian cancer cells to the cytotoxic effects of paclitaxel via an integrin receptor-mediated mechanism that modulates microtubule stability. Herein, we determine that TGFBI localizes within organized fibrillar structures in mesothelial-derived ECM. We determined that suppression of SPARC expression by shRNA decreased the deposition of TGFBI in mesothelial-derived ECM, without affecting its overall protein expression or secretion. Conversely, overexpression of SPARC increased TGFBI deposition...
2016: PloS One
https://www.readbyqxmd.com/read/27622074/carcinogenesis-of-renal-cell-carcinoma-reflected-in-hla-ligands-a-novel-approach-for-synergistic-peptide-vaccination-design
#18
Martin G Klatt, Daniel J Kowalewski, Heiko Schuster, Moreno Di Marco, Jörg Hennenlotter, Arnulf Stenzl, Hans-Georg Rammensee, Stefan Stevanović
Despite recent advances in immunotherapy of renal cell carcinoma (RCC), peptide vaccination strategies still lack an approach for personalized peptide vaccination that takes intra- and inter-tumoral heterogeneity and biological characteristics into account. In this study, we use an immunoprecipitation and mass spectrometry-based approach supplemented by network analysis of HLA ligands to target this goal. By analyzing HLA-presented peptides for HLA class I and II of 11 malignant and 6 non-malignant kidney tissue samples, more than 2,700 peptides and 1,600 corresponding source proteins were identified...
August 2016: Oncoimmunology
https://www.readbyqxmd.com/read/27590038/new-histopathologic-and-ultrastructural-findings-in-reis-b%C3%A3-cklers-corneal-dystrophy-caused-by-the-arg124leu-mutation-of-tgfbi-gene
#19
Wen-Ya Qiu, Li-Bin Zheng, Fei Pan, Bei-Bei Wang, Yu-Feng Yao
BACKGROUND: Reis-Bücklers corneal dystrophy (RBCD) was consistently reported as a corneal dystrophy only affected Bowman's layer and superficial corneal stroma, and superficial keratectomy was a recommendation surgery for treatment in literatures. The study reported new histopathological and ultrastructural findings in RBCD caused by the Arg124Leu mutation of transforming growth factor induced (TGFBI) gene in a four-generation Chinese pedigree. METHODS: Subjects including eight patients and seven unaffected family members received slit-lamp biomicroscopy and photography...
September 2, 2016: BMC Ophthalmology
https://www.readbyqxmd.com/read/27578826/women-in-cancer-thematic-review-ovarian-cancer-peritoneal-cell-interactions-promote-extracellular-matrix-processing
#20
REVIEW
C Ricciardelli, N A Lokman, M P Ween, M K Oehler
Ovarian cancer has a distinct tendency for metastasising via shedding of cancerous cells into the peritoneal cavity and implanting onto the peritoneum that lines the pelvic organs. Once ovarian cancer cells adhere to the peritoneal cells, they migrate through the peritoneal layer and invade the local organs. Alterations in the extracellular environment are critical for tumour initiation, progression and intra-peritoneal dissemination. To increase our understanding of the molecular mechanisms involved in ovarian cancer metastasis and to identify novel therapeutic targets, we recently studied the interaction of ovarian cancer and peritoneal cells using a proteomic approach...
November 2016: Endocrine-related Cancer
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