نتایج جستجو برای: fam83h

تعداد نتایج: 59  

Journal: :Oncology letters 2016
Lei Yang Lingling Xu Qian Wang Min Wang Guangyu An

Long non-coding RNAs (lncRNAs) emerged as key regulators of diverse roles during colorectal cancer (CRC) carcinogenesis, but their specific function still remains to be explored. The present study aimed to re-annotate the Affymetrix Human Exon 1.0 ST Array for defining differential lncRNAs in CRC. Their prognostic relevance was also developed for screening key regulators in CRC. The CRC dataset...

2016
Fan Yang Shi-Xu Lv Lin Lv Ye-Huan Liu Si-Yang Dong Zhi-Han Yao Xuan-xuan Dai Xiao-Hua Zhang Ou-Chen Wang

BACKGROUND Luminal subtype breast cancer accounts for a predominant number of breast cancers. Considering the heterogeneity of the disease, it is urgent to develop novel biomarkers to improve risk stratification and optimize therapy choices. Long non-coding RNA (lncRNA) represents an emerging and understudied class of transcripts that play a significant role in cancer biology. Growing knowledge...

Journal: :Cells, tissues, organs 2011
J Timothy Wright Melody Torain Kimberly Long Kim Seow Peter Crawford Michael J Aldred P Suzanne Hart Tom C Hart

Amelogenesis imperfecta (AI) represents hereditary conditions affecting the quality and quantity of enamel. Six genes are known to cause AI (AMELX, ENAM, MMP20, KLK4, FAM83H, and WDR72). Our aim was to determine the distribution of different gene mutations in a large AI population and evaluate phenotype-genotype relationships. Affected and unaffected family members were evaluated clinically and...

Journal: :Archives of oral biology 2015
Blanca Urzúa Carolina Martínez Ana Ortega-Pinto Daniela Adorno Irene Morales-Bozo Gonzalo Riadi Lilian Jara Anita Plaza Claudia Lefimil Carla Lozano Monserrat Reyes

OBJECTIVE Amelogenesis imperfecta (AI) is a group of clinically and genetically heterogeneous inherited conditions, causing alterations in the structure of enamel and chemical composition of enamel matrix during development. The objective of this study was to compare the clinical, radiographic, histological and immunohistochemical phenotypes of subjects affected with hypocalcified AI from three...

2014
S Jalal POURHASHEMI Mehdi GHANDEHARI MOTLAGH Ghasem MEIGHANI Azadeh EBRAHIMI TAKALOO Mahsa MANSOURI Fatemeh MOHANDES Maryam MIRZAII Ahad KHOSHZABAN Faranak MOSHTAGHI Hoda ABEDKHOJASTEH Mansour HEIDARI

BACKGROUND Amelogenesis Imperfecta (AI) is a disorder of tooth development where there is an abnormal formation of enamel or the external layer of teeth. The aim of this study was to screen mutations in the four most important candidate genes, ENAM, KLK4, MMP20 and FAM83H responsible for amelogenesis imperfect. METHODS Geneomic DNA was isolated from five Iranian families with 22 members affec...

Journal: :Human mutation 2008
Sook-Kyung Lee Jan C-C Hu John D Bartlett Kyung-Eun Lee Brent P-J Lin James P Simmer Jung-Wook Kim

Dental enamel forms through the concerted activities of specialized extracellular matrix proteins, including amelogenin, enamelin, MMP20, and KLK4. Defects in the genes encoding these proteins cause non-syndromic inherited enamel malformations collectively designated as amelogenesis imperfecta (AI). These genes, however, account for only about a quarter of all AI cases. Recently we identified m...

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