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https://www.readbyqxmd.com/read/30009827/enamel-anomalies-in-a-pachyonychia-congenita-patient-with-a-mutation-in-krt16
#1
Olivier Duverger, Michael A Cross, Frances J D Smith, Maria I Morasso
Pachyonychia congenita (PC) is a cutaneous disorder caused by a mutation in the KRT6A, KRT6B, KRT6C, KRT16 or KRT17 genes that encode a subset of epithelial keratins. The main features of the disease are painful palmoplantar keratoderma and variable nail dystrophy. In a recent study, we reported that these keratins are incorporated into mature enamel. Moreover, genetic association study showed that common polymorphisms in KRT6A, KRT6B and KRT6C are associated with increased susceptibility to tooth decay. Here we report enamel defects in a PC patient with KRT16 c...
July 13, 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29991674/keratin-17-promotes-lung-adenocarcinoma-progression-by-enhancing-cell-proliferation-and-invasion
#2
Jianbo Liu, Lei Liu, Lina Cao, Qiang Wen
BACKGROUND Lung adenocarcinoma (LAC) accounts for the majority of lung cancer, which is the leading cause of cancer-related mortality worldwide. Keratin 17 (KRT17) was reported to promote the tumor development of skin tumor and oral cancer. The aim of this study was to investigate the expression and function of KRT17 in LAC. MATERIAL AND METHODS Immunohistochemical staining and quantitative PCR were performed to explore the expression of KRT17 in both LAC tissues and adjacent normal liver tissues. Chi-square test, univariate analysis, and multivariate analysis were conducted to statistically evaluate the clinical significance of KRT17 in LAC...
July 11, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/29963730/establishment-and-characterization-of-a-canine-keratinocyte-organoid-culture-system
#3
Dominique J Wiener, Onur Basak, Priyanca Asra, Kim E Boonekamp, Kai Kretzschmar, Angelos Papaspyropoulos, Hans Clevers
BACKGROUND: Perturbations of epidermal and follicular homeostasis have been attributed to a variety of skin diseases affecting dogs. The availability of an in vitro system to investigate these diseases is important to understand underlying pathomechanisms. OBJECTIVES: To establish an accurate and reliable in vitro 3D system of canine keratinocyte organoids to lay the basis for studying functional defects in interfollicular epidermis (IFE) and hair follicle (HF) morphogenesis, reconstitution and differentiation that lead to alopecic and epidermal diseases...
July 2, 2018: Veterinary Dermatology
https://www.readbyqxmd.com/read/29951927/identification-of-marker-genes-and-pathways-specific-to-precancerous-duodenal-adenomas-and-early-stage-adenocarcinomas
#4
Yoshiki Sakaguchi, Nobutake Yamamichi, Shuta Tomida, Chihiro Takeuchi, Natsuko Kageyama-Yahara, Yu Takahashi, Kazuya Shiogama, Ken-Ichi Inada, Masao Ichinose, Mitsuhiro Fujishiro, Kazuhiko Koike
BACKGROUND: The mechanism behind the pathogenesis and carcinogenesis of these neoplasms is not fully understood. The objective of this study was to identify genetic markers and pathways specific to precancerous duodenal adenomas and early stage adenocarcinomas through gene expression analysis. METHODS: Gene expression profiling was performed in 4 pairs of duodenal adenoma/adenocarcinomas and corresponding matched normal tissue. Genes with consistent expression differences were identified and confirmed in 7 independent pairs...
June 28, 2018: Journal of Gastroenterology
https://www.readbyqxmd.com/read/29572450/rna-seq-identifies-genes-whose-proteins-are-transformative-in-the-differentiation-of-cytotrophoblast-to-syncytiotrophoblast-in-human-primary-villous-and-bewo-trophoblasts
#5
Christopher Azar, Mark Valentine, Julie Trausch-Azar, Todd Druley, D Michael Nelson, Alan L Schwartz
The fusion of villous cytotrophoblasts into the multinucleated syncytiotrophoblast is critical for the essential functions of the mammalian placenta. Using RNA-Seq gene expression and quantitative protein expression, we identified genes and their cognate proteins which are coordinately up- or down-regulated in two cellular models of cytotrophoblast to syncytiotrophoblast development, human primary villous and human BeWo cytotrophoblasts. These include hCGβ, TREML2, PAM, CRIP2, INHA, FLRG, SERPINF1, C17orf96, KRT17 and SAA1...
March 23, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29411616/new-in-depth-analytical-approach-of-the-porcine-seminal-plasma-proteome-reveals-potential-fertility-biomarkers
#6
Cristina Pérez-Patiño, Inmaculada Parrilla, Isabel Barranco, María Vergara-Barberán, Ernesto F Simó-Alfonso, José M Herrero-Martínez, Heriberto Rodriguez-Martínez, Emilio A Martínez, Jordi Roca
A complete characterization of the proteome of seminal plasma (SP) is an essential step to understand how SP influences sperm function and fertility after artificial insemination (AI). The purpose of this study was to identify which among characterized proteins in boar SP were differently expressed among AI boars with significantly different fertility outcomes. A total of 872 SP proteins, 390 of them belonging specifically to Sus Scrofa taxonomy, were identified (Experiment 1) by using a novel proteomic approach that combined size exclusion chromatography and solid-phase extraction as prefractionation steps prior to Nano LC-ESI-MS/MS analysis...
March 2, 2018: Journal of Proteome Research
https://www.readbyqxmd.com/read/29364501/wnt10b-mutations-associated-with-isolated-dental-anomalies
#7
P N Kantaputra, A Hutsadaloi, M Kaewgahya, W Intachai, R German, M Koparal, C Leethanakul, A Tolun, J R Ketudat Cairns
Isolated hypodontia is the most common human malformation. It is caused by heterozygous variants in various genes, with heterozygous WNT10A variants being the most common cause. WNT10A and WNT10B are paralogs that likely evolved from a common ancestral gene after its duplication. Recently, an association of WNT10B variants with oligodontia (severe tooth agenesis) has been reported. We performed mutational analysis in our cohort of 256 unrelated Thai families with various kinds of isolated dental anomalies. In 7 families afflicted with dental anomalies we detected 4 heterozygous missense variants in WNT10B...
May 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29357356/genetic-variants-in-pachyonychia-congenita-associated-keratins-increase-susceptibility-to-tooth-decay
#8
Olivier Duverger, Jenna C Carlson, Chelsea M Karacz, Mary E Schwartz, Michael A Cross, Mary L Marazita, John R Shaffer, Maria I Morasso
Pachyonychia congenita (PC) is a cutaneous disorder primarily characterized by nail dystrophy and painful palmoplantar keratoderma. PC is caused by mutations in KRT6A, KRT6B, KRT6C, KRT16, and KRT17, a set of keratin genes expressed in the nail bed, palmoplantar epidermis, oral mucosal epithelium, hair follicle and sweat gland. RNA-seq analysis revealed that all PC-associated keratins (except for Krt6c that does exist in the mouse genome) are expressed in the mouse enamel organ. We further demonstrated that these keratins are produced by ameloblasts and are incorporated into mature human enamel...
January 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29344281/keratin17-promotes-tumor-growth-and-is-associated-with-poor-prognosis-in-gastric-cancer
#9
Hao Hu, Dan-Hua Xu, Xiao-Xu Huang, Chun-Chao Zhu, Jia Xu, Zi-Zhen Zhang, Gang Zhao
Krt17 is a 48kDa protein member of keratin family. Previous literatures have demonstrated Krt17 may play a promotive role in the progression of various malignancies. However, the exact function of Krt17 in the carcinogenesis and the progression of gastric cancer (GC) remains unknown. In the present study, the expression of Krt17 in 20 fresh GC and matched normal tissues were detected and Krt17 was found to be significantly increased in GC tissues compared to normal tissues. And then the immunochemistry was performed to investigate the Krt17 expression in 569 GC tissue specimens, we found that the expression of Krt17 was remarkably positively correlated with the tumor size (P < 0...
2018: Journal of Cancer
https://www.readbyqxmd.com/read/29215326/the-role-of-fabp5-in-radiation-induced-human-skin-fibrosis
#10
Jianyuan Song, Huojun Zhang, Zhenyu Wang, Wanglei Xu, Li Zhong, Jinming Cao, Jianfeng Yang, Ye Tian, Daojiang Yu, Jiang Ji, Jianping Cao, Shuyu Zhang
Radiation-induced skin fibrosis is a detrimental and chronic disorder that occurs after radiation exposure. The molecular changes underlying the pathogenesis of radiation-induced fibrosis of human skin have not been extensively reported. Technical advances in proteomics have enabled exploration of the biomarkers and molecular pathogenesis of radiation-induced skin fibrosis, with the potential to broaden our understanding of this disease. In this study, we compared protein expression in radiation-induced fibrotic human skin and adjacent normal tissues using iTRAQ-based proteomics technology...
February 2018: Radiation Research
https://www.readbyqxmd.com/read/29176322/differential-expression-profiles-of-the-transcriptome-in-breast-cancer-cell-lines-revealed-by-next-generation-sequencing
#11
Yu Shi, Peng Ye, Xinghua Long
BACKGROUND/AIMS: As MCF-7 and MDA-MB-231 cells are the typical cell lines of two clinical breast tumour subtypes, the aim of the present study was to elucidate the transcriptome differences between MCF-7 and MDA-MB-231 breast cancer cell lines. METHODS: The mRNA, miRNA (MicroRNA) and lncRNA (Long non-coding RNA) expression profiles were examined using NGS (next generation sequencing) instrument Illumina HiSeq-2500. GO (Gene Ontology) and KEGG (Kyoto Encyclopedia of Genes and Genomes) pathway analyses were performed to identify the biological functions of differentially expressed coding RNAs...
2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29090033/first-report-of-pachyonychia-congenita-type-pc-k6a-in-the-romanian-population
#12
Anca Chiriac, Cristina Rusu, Alina Murgu, Anca E Chiriac, Neil J Wilson, Frances J D Smith
Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder, with unknown prevalence, although it is estimated there are between 2,000 and 10,000 cases of PC worldwide. The International PC Research Registry (IPCRR) has currently identified (as of November 2016) 746 individuals (in 403 families) with genetically confirmed PC. Heterozygous mutations, predominantly missense mutations, in any one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17 cause PC. The predominant clinical findings include plantar keratoderma, plantar pain and variable dystrophy of some or all toenails and/ or fingernails...
June 2017: Mædica
https://www.readbyqxmd.com/read/28833576/towards-the-development-of-a-rnai-based-topical-treatment-for-psoriasis-proof-of-concept-in-a-3d-psoriasis-skin-model
#13
Eline Desmet, Mireille Van Gele, Lynda Grine, Katrien Remaut, Jo Lambert
RNA interference has emerged as a powerful tool for therapeutic gene silencing, as it offers the possibility to silence virtually any known pathology-causing gene. However, in vivo delivery of RNAi molecules is hampered by their unfavourable physicochemical characteristics and susceptibility to degradation by endogenous enzymes. To overcome these limitations, we recently developed an elastic liposomal formulation, called DDC642, as topical delivery system of therapeutic RNAi molecules for skin disorders. In this study, we validated the therapeutic efficacy of DDC642-encapsulated RNAi molecules in the treatment of psoriasis using 3 different in vitro models: a standardized keratinocyte monolayer culture, psoriasis-induced keratinocytes and a psoriasis-reconstructed skin model...
May 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/28794556/keratin-17-mutations-in-four-families-from-india-with-pachyonychia-congenita
#14
Manoj Agarwala, Pankaj Salphale, Dincy Peter, Neil J Wilson, Susanne Pulimood, Mary E Schwartz, Frances J D Smith
Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, KRT6A , KRT6B , KRT6C , KRT16 , or KRT17 . The main features are palmoplantar keratoderma, plantar pain, and nail dystrophy. Cysts of various types, follicular hyperkeratosis, oral leukokeratosis, hyperhidrosis, and natal teeth may also be present. Four unrelated Indian families presented with a clinical diagnosis of PC. This was confirmed by genetic testing; mutations in KRT17 were identified in all affected individuals...
July 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28648685/proteomic-profiling-of-pachyonychia-congenita-plantar-callus
#15
Robert H Rice, Blythe P Durbin-Johnson, Michelle Salemi, Mary E Schwartz, David M Rocke, Brett S Phinney
Callus samples from the ball and the arch of the foot, collected on tape circles, were compared by shotgun proteomic profiling. Pachyonychia congenita subjects were sampled who exhibited a mutation in KRT6A, KRT6B, KRT6C, KRT16 or KRT17, and the proteins were digested and analyzed by tandem mass spectrometry. In comparison with samples from unaffected control subjects, those from subjects with KRT6A or KRT16 mutations displayed the most differences in profile from normal, while those from subjects with KRT6C or KRT17 mutations showed few differences from normal...
August 8, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/28630424/characterization-of-slow-cycling-corneal-limbal-epithelial-cells-identifies-putative-stem-cell-markers
#16
R Sartaj, C Zhang, P Wan, Z Pasha, V Guaiquil, A Liu, J Liu, Y Luo, E Fuchs, M I Rosenblatt
In order to identify reliable markers of corneal epithelial stem cells, we employed an inducible transgenic "pulse-chase" murine model (K5Tta × TRE-H2BGFP) to localize, purify, and characterize slow cycling cells in the cornea. The retention of GFP labeling in slowly dividing cells allowed for localization of these cells to the corneal limbus and their subsequent purification by FACS. Transcriptome analysis from slow cycling cells identified differentially expressed genes when comparing to GFP- faster-dividing cells...
June 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28558959/the-transcriptional-landscape-of-p53-signalling-pathway
#17
Chizu Tanikawa, Yao-Zhong Zhang, Ryuta Yamamoto, Yusuke Tsuda, Masami Tanaka, Yuki Funauchi, Jinichi Mori, Seiya Imoto, Rui Yamaguchi, Yusuke Nakamura, Satoru Miyano, Hidewaki Nakagawa, Koichi Matsuda
Although recent cancer genomics studies have identified a large number of genes that were mutated in human cancers, p53 remains as the most frequently mutated gene. To further elucidate the p53-signalling network, we performed transcriptome analysis on 24 tissues in p53+/+ or p53-/- mice after whole-body X-ray irradiation. Here we found transactivation of a total of 3551 genes in one or more of the 24 tissues only in p53+/+ mice, while 2576 genes were downregulated. p53 mRNA expression level in each tissue was significantly associated with the number of genes upregulated by irradiation...
June 2017: EBioMedicine
https://www.readbyqxmd.com/read/28342001/gli-mediated-keratin-17-expression-promotes-tumor-cell-growth-through-the-anti-apoptotic-function-in-oral-squamous-cell-carcinomas
#18
Yurie Mikami, Shinsuke Fujii, Kengo Nagata, Hiroko Wada, Kana Hasegawa, Misaki Abe, Reiko U Yoshimoto, Shintaro Kawano, Seiji Nakamura, Tamotsu Kiyoshima
PURPOSE: Keratin 17 (KRT17) has been suggested as a potential diagnostic marker of squamous cell carcinoma including oral squamous cell carcinoma (OSCC). The current study was conducted to clarify the function of KRT17 and its expression mechanism in OSCC. METHODS: Immunohistochemical analyses were carried out to examine the expression of KRT17, GLI family zinc finger (GLI)-1, GLI-2, or cleaved caspase-3 in OSCCs. The expression of KRT17, GLI-1, or GLI-2 was investigated among OSCC cell lines, and the effects of loss-of-function of KRT17 or GLI, using siRNA or inhibitor, on the cell growth of the OSCC cell line HSC-2 particularly with respect to apoptosis were examined...
August 2017: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/28299464/knockdown-of-krt17-by-sirna-induces-antitumoral-effects-on-gastric-cancer-cells
#19
Mihaela Chivu-Economescu, Denisa L Dragu, Laura G Necula, Lilia Matei, Ana Maria Enciu, Coralia Bleotu, Carmen C Diaconu
BACKGROUND: Keratin 17 (KRT17) was shown to be an important molecular marker for predicting the carcinogenesis, progression, and prognosis of various cancer types. Our previous studies identified KRT17 as a possible biomarker for gastric cancer by gene microarray, with an elevated expression that occurred early during tumorigenesis and increased during tumor progression. Based on these findings, we aimed to investigate KRT17 biological functions in gastric adenocarcinoma and its possible use as a rational molecular target for anticancer therapy...
November 2017: Gastric Cancer
https://www.readbyqxmd.com/read/28042647/content-of-rna-originating-from-thyroid-in-washouts-from-fine-needle-and-core-needle-aspiration-biopsy-preliminary-study
#20
Kosma Woliński, Adam Stangierski, Ewelina Szczepanek-Parulska, Edyta Gurgul, Elżbieta Wrotkowska, Maciej Biczysko, Marek Ruchała
INTRODUCTION: In the evaluation of molecular markers in washouts from fine-needle aspiration biopsy (FNAB) the extremely small amount of material can be a major problem. Some authors tried to use washouts from core-needle aspiration biopsy (CNABs) to gain more material from larger needles. However, according to some studies, CNAB samples are commonly contaminated with blood. The aim of our study was to evaluate the proportion of nucleic acids from thyroid cells in washouts from FNAB and CNAB by measuring the relative expression of cytokeratin 17 (KRT17) on the mRNA level...
2016: Endokrynologia Polska
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