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https://www.readbyqxmd.com/read/28106769/tgf-%C3%AE-signaling-in-gastrointestinal-cancers-progress-in-basic-and-clinical-research
#1
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
#2
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
#3
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)...
December 19, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27940296/induction-of-type-1-iodothyronine-deiodinase-expression-inhibits-proliferation-and-migration-of-renal-cancer-cells
#4
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...
December 8, 2016: 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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/27546376/transcriptional-targets-of-twist1-in-the-cranial-mesoderm-regulate-cell-matrix-interactions-and-mesenchyme-maintenance
#13
Heidi Bildsoe, Xiaochen Fan, Emilie E Wilkie, Ator Ashoti, Vanessa J Jones, Melinda Power, Jing Qin, Junwen Wang, Patrick P L Tam, David A F Loebel
TWIST1, a basic helix-loop-helix transcription factor is essential for the development of cranial mesoderm and cranial neural crest-derived craniofacial structures. We have previously shown that, in the absence of TWIST1, cells within the cranial mesoderm adopt an abnormal epithelial configuration via a process reminiscent of a mesenchymal to epithelial transition (MET). Here, we show by gene expression analysis that loss of TWIST1 in the cranial mesoderm is accompanied by a reduction in the expression of genes that are associated with cell-extracellular matrix interactions and the acquisition of mesenchymal characteristics...
October 1, 2016: Developmental Biology
https://www.readbyqxmd.com/read/27442190/gene-expression-profile-of-extracellular-matrix-and-adhesion-molecules-in-the-human-normal-corneal-stroma
#14
Ying Liu, Hu Huang, Guoying Sun, Saeed Alwadani, Richard D Semba, Gerard A Lutty, Samuel Yiu, Deepak P Edward
PURPOSE: There is limited information on region-specific gene expression in the human corneal stroma. In this study, we aimed to investigate the expression profile of the extracellular matrix and adhesion molecules in the normal corneal stroma using laser capture microdissection (LCM) and molecular techniques. METHODS: Frozen sections of human cornea without ocular disease were used to isolate the central and peripheral corneal stromal keratocytes by LCM. RNA was extracted from LCM-captured tissues and the RT(2) Profiler PCR Arrays were used to examine the expression profile of extracellular matrix and adhesion molecules in the central and peripheral stroma...
July 21, 2016: Current Eye Research
https://www.readbyqxmd.com/read/27402970/variant-lattice-corneal-dystrophy-associated-with-compound-heterozygous-mutations-in-the-tgfbi-gene
#15
Lydia Bai-Tsin Ann, Alessandro Abbouda, Ricardo F Frausto, Samira Huseynli, Kishan Gupta, Jorge L Alió, Anthony J Aldave
BACKGROUND/AIMS: To report the clinical, histopathological and genetic features of a variant of lattice corneal dystrophy (LCD) associated with two pathogenic mutations in the transforming growth factor-B-induced (TGFBI) gene. METHODS: Clinical characterisation was performed by slit lamp examination and in vivo confocal microscopic imaging (IVCM). Histopathological characterisation was performed with light microscopic examination of an excised corneal button and a peripheral blood samples were collected for TGFBI screening...
July 11, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27373828/4-phenylbutyric-acid-reduces-mutant-tgfbip-levels-and-er-stress-through-activation-of-erad-pathway-in-corneal-fibroblasts-of-granular-corneal-dystrophy-type-2
#16
Seung-Il Choi, Eunhee Lee, Jang Bin Jeong, Begum Akuzum, Yong-Sun Maeng, Tae-Im Kim, Eung Kweon Kim
Granular corneal dystrophy type 2 (GCD2) is caused by a point mutation (R124H) in the transforming growth factor β-induced (TGFBI) gene. In GCD2 corneal fibroblasts, secretion of the accumulated mutant TGFBI-encoded protein (TGFBIp) is delayed via the endoplasmic reticulum (ER)/Golgi-dependent secretory pathway. However, ER stress as the pathogenic mechanism underlying GCD2 has not been fully characterized. The aim of this study was to confirm whether ER stress is linked to GCD2 pathogenesis and whether the chemical chaperone, 4-phenylbutyric acid (4-PBA), could be exploited as a therapy for GCD2...
September 2, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27350955/genetics-in-keratoconus-where-are-we
#17
REVIEW
Yelena Bykhovskaya, Benjamin Margines, Yaron S Rabinowitz
Keratoconus (KC) is a non-inflammatory thinning and protrusion of the cornea in which the cornea assumes a conical shape. Complex etiology of this condition at present remains an enigma. Although environmental factors have been involved in KC pathogenesis, strong underlining genetic susceptibility has been proven. The lack of consistent findings among early genetic studies suggested a heterogeneity and complex nature of the genetic contribution to the development of KC. Recently, genome-wide linkage studies (GWLS) and genome-wide association studies (GWAS) were undertaken...
2016: Eye and Vision (London, England)
https://www.readbyqxmd.com/read/27348782/tgfbi-gene-mutation-analysis-in-chinese-families-with-corneal-dystrophies
#18
Jianqiu Cai, Leru Zhu, Yi Zha, Qianyan Kang
AIMS: To identify transforming growth factor beta-induced (TGFBI) gene mutations in four Chinese families affected by corneal dystrophies. METHODS: In this study, three families (21 patients and 18 normal relatives), respectively, with Reis-Bücklers corneal dystrophy (RBCD), classic lattice corneal dystrophy (LCDI), and variant LCD (LCDI/IIIA) were assessed. All subjects underwent a complete ophthalmological evaluation, including biomicroscopic inspection and dilated fundus examination...
July 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27164760/-to-protect-corneal-transparency-against-diseases
#19
Tomohiko Usui
To protect corneal transparency, we tried to develop a new therapeutic strategy for corneal neovascularization, corneal scar, and TGFBI-related corneal dystrophy using nucleic acid drug. 1. The expression of angiopietin-like protein 2 (Angptl2) markedly increased in the neovascularized corneas compared to the normal cornea, and Angtpl2 was(a potent inducer of inflammatory corneal neovascularization. We have produced a single-stranded proline-modified short hairpin anti-Angptl2 ribonucleric acid interference (RNAi) molecule that is carried in a lipid nanoparticle for topical application...
March 2016: Nippon Ganka Gakkai Zasshi
https://www.readbyqxmd.com/read/27143554/increased-adamts1-mediates-sparc-dependent-collagen-deposition-in-the-aging-myocardium
#20
Hiroe Toba, Lisandra E de Castro Brás, Catalin F Baicu, Michael R Zile, Merry L Lindsey, Amy D Bradshaw
Secreted protein acidic and rich in cysteine (SPARC) is a collagen-binding matricellular protein highly expressed during fibrosis. Fibrosis is a prominent component of cardiac aging that reduces myocardial elasticity. Previously, we reported that SPARC deletion attenuated myocardial stiffness and collagen deposition in aged mice. To investigate the mechanisms by which SPARC promotes age-related cardiac fibrosis, we evaluated six groups of mice (n = 5-6/group): young (3-5 mo old), middle-aged (10-12 mo old), and old (18-29 mo old) C57BL/6 wild type (WT) and SPARC-null (Null) mice...
June 1, 2016: American Journal of Physiology. Endocrinology and Metabolism
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