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FKBP10

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https://www.readbyqxmd.com/read/27762305/novel-mutations-in-fkbp10-in-chinese-patients-with-osteogenesis-imperfecta-and-their-treatment-with-zoledronic-acid
#1
Xiao-Jie Xu, Fang Lv, Yi Liu, Jian-Yi Wang, Dou-Dou Ma, Asan, Jia-Wei Wang, Li-Jie Song, Yan Jiang, Ou Wang, Wei-Bo Xia, Xiao-Ping Xing, Mei Li
Osteogenesis imperfecta (OI) is a group of hereditary disorders characterized by decreased bone mass and increased fracture risk. The majority of OI cases have an autosomal dominant pattern of inheritance and are usually caused by mutations in genes encoding type I collagen. OI cases of autosomal recessive inheritance are rare, and OI type XI is attributable to mutation of the FKBP10 gene. Here, we used next-generation sequencing and Sanger sequencing to detect mutations in FKBP10 and to analyze their relation to the phenotypes of OI type XI in three Chinese patients...
August 25, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27717089/chromosomal-microarray-in-a-highly-consanguineous-population-diagnostic-yield-utility-of-regions-of-homozygosity-and-novel-mutations
#2
M A Alabdullatif, M A Al Dhaibani, M Y Khassawneh, A W El-Hattab
Chromosomal microarray (CMA) has significantly improved diagnosing copy number variations (CNVs). Single nucleotide polymorphism (SNP) arrays confer additional utility in detecting regions of homozygosity (ROH). Investigating ROH for genes associated with recessive disorders for follow-up sequencing can aid in diagnosis. In this study, we performed a retrospective review of clinical and molecular data for 227 individuals from a highly consanguineous population who previously had a CMA. Pathogenic CNVs were identified in 32 (14%) cases; ROH suggesting uniparental disomy (UPD) in three (1%) cases, and an additional 25 (11%) individuals were diagnosed with recessive disorders caused by mutations in ROH candidate genes, thereby increasing the CMA diagnostic yield to 26%...
September 22, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27706701/analysis-of-fkbp10-serpinh1-and-serpinf1-genes-in-patients-with-osteogenesis-imperfecta
#3
C Barbirato, M Trancozo, M R G O Rebouças, V Sipolatti, V R R Nunes, F Paula
Osteogenesis imperfecta (OI) is a heterogeneous disorder that causes fragility, deformity, and fractures in bones. A large number of genes that are associated with the disease have been identified in the last decade; this makes the genetic diagnosis of OI more difficult. To improve our knowledge of the genetic mutation profile in OI we used single-stranded conformation polymorphism screening and automated sequencing to investigate the SERPINH1, FKBP10, and SERPINF1 genes, which are related to recessive OI, in 23 unrelated Brazilian patients...
September 2, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27689402/integration-of-zebrafish-fin-regeneration-genes-with-expression-data-of-human-tumors-in-silico-uncovers-potential-novel-melanoma-markers
#4
Martin Hagedorn, Géraldine Siegfried, Katarzyna B Hooks, Abdel-Majid Khatib
Tissue regeneration requires expression of a large, unknown number of genes to initiate and maintain cellular processes such as proliferation, extracellular matrix synthesis, differentiation and migration. A unique model to simulate this process in a controlled manner is the re-growth of the caudal fin of zebrafish after amputation. Within this tissue stem cells differentiate into fibroblasts, epithelial and endothelial cells as well as melanocytes. Many genes implicated in the regeneration process are deregulated in cancer...
September 26, 2016: Oncotarget
https://www.readbyqxmd.com/read/27602571/fk506-binding-protein-10-is-overexpressed-and-promotes-renal-cell-carcinoma
#5
Yukun Ge, Abai Xu, Meng Zhang, Hu Xiong, Lu Fang, Xiaolong Zhang, Chunxiao Liu, Song Wu
INTRODUCTION: FK506 binding proteins (FKBPs) function as oncogenes or tumor suppressors by interacting with steroid hormone receptors, kinases, or other cellular factors in addition to intracellular ligands FK506 and rapamycin. In this study, we aimed at evaluating the expression and function of FKBPs in renal cell carcinoma (RCC). MATERIALS AND METHODS: Thirty-four RCC specimens were analyzed by whole transcriptome sequencing. Small interfere RNA was employed to knockdown FKBP10 in 786-O and A-704 cells, and cell proliferation, cell cycle progression, invasion and migration were evaluated...
September 8, 2016: Urologia Internationalis
https://www.readbyqxmd.com/read/27541483/loss-of-type-i-collagen-telopeptide-lysyl-hydroxylation-causes-musculoskeletal-abnormalities-in-a-zebrafish-model-of-bruck-syndrome
#6
Charlotte Gistelinck, Paul Eckhard Witten, Ann Huysseune, Sofie Symoens, Fransiska Malfait, Daria Larionova, Pascal Simoens, Manuel Dierick, Luc Van Hoorebeke, Anne De Paepe, Ronald Y Kwon, MaryAnn Weis, David R Eyre, Andy Willaert, Paul J Coucke
Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and skeletal dysplasia that shows strong clinical overlap with the brittle bone disease osteogenesis imperfecta (OI). BS is caused by biallelic mutations in either the FKBP10 or the PLOD2 gene. PLOD2 encodes the lysyl hydroxylase 2 (LH2) enzyme, which is responsible for the hydroxylation of lysine residues in fibrillar collagen telopeptides. This hydroxylation directs crosslinking of collagen fibrils in the extracellular matrix, which is necessary to provide stability and tensile integrity to the collagen fibrils...
August 19, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/27362741/novel-fkbp10-mutation-in-a-patient-with-osteogenesis-imperfecta-type-xi
#7
Seyed Mohammad Seyedhassani, Feyzollah Hashemi-Gorji, Mahdieh Yavari, Fahimeh Harazi, Vahid Reza Yassaee
Osteogenesis imperfecta (OI) is a set of clinically and genetically heterogeneous disorders with autosomal dominant, recessive and X-linked inheritance patterns. The aim of this study was to describe a novel genetic abnormality in a case of OI type XI with mild joint contractures, kyphoscoliosis, muscular atrophy, progressively deforming and multiple bone fractures in a consanguineous Iranian family. Based on the phenotype, investigation of two candidate genes, CRTAP (OI type VII) and FKBP10 (OI type XI) detected a novel homozygous frameshift mutation in the FKBP10 gene...
June 30, 2016: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/27146342/osteoblastic-differentiation-of-bone-marrow-mesenchymal-stromal-cells-in-bruck-syndrome
#8
Carla M Kaneto, Patrícia S P Lima, Dalila Lucíola Zanette, Thiago Yukio Kikuchi Oliveira, Francisco de Assis Pereira, Julio Cesar Cetrulo Lorenzi, Jane Lima Dos Santos, Karen L Prata, João M Pina Neto, Francisco J A de Paula, Wilson A Silva
BACKGROUND: Osteogenesis Imperfecta (OI) (OMIM %259450) is a heterogeneous group of inherited disorders characterized by increased bone fragility, with clinical severity ranging from mild to lethal. The majority of OI cases are caused by mutations in COL1A1 or COL1A2. Bruck Syndrome (BS) is a further recessively-inherited OI-like phenotype in which bone fragility is associated with the unusual finding of pterygia and contractures of the large joints. Notably, several studies have failed to show any abnormalities in the biosynthesis of collagen 1 in BS patientes...
2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/26764098/inhibition-of-the-fkbp-family-of-peptidyl-prolyl-isomerases-induces-abortive-translocation-and-degradation-of-the-cellular-prion-protein
#9
Pawel Stocki, Maxime Sawicki, Charles E Mays, Seo Jung Hong, Daniel C Chapman, David Westaway, David B Williams
Prion diseases are fatal neurodegenerative disorders for which there is no effective treatment. Because the cellular prion protein (PrP(C)) is required for propagation of the infectious scrapie form of the protein, one therapeutic strategy is to reduce PrP(C) expression. Recently FK506, an inhibitor of the FKBP family of peptidyl prolyl isomerases, was shown to increase survival in animal models of prion disease, with proposed mechanisms including calcineurin inhibition, induction of autophagy, and reduced PrP(C) expression...
March 1, 2016: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/26538303/homozygous-sequence-variants-in-the-fkbp10-gene-underlie-osteogenesis-imperfecta-in-consanguineous-families
#10
Muhammad Umair, Annum Hassan, Abid Jan, Farooq Ahmad, Muhammad Imran, Muhammad I Samman, Sulman Basit, Wasim Ahmad
Osteogenesis imperfecta (OI, MIM 610968) is a genetically and clinically heterogeneous disorder characterized by bone fragility. It is one of the rare forms of skeletal deformity caused by sequence variants in at least 14 different genes, including FKBP10 (MIM 607063) encoding protein FKBP65. Here we present three consanguineous families of Pakistani origin segregating OI in an autosomal-recessive pattern. Genotyping using either single-nucleotide polymorphism markers by Affymetrix GeneChip Human Mapping 250K Nsp array or polymorphic microsatellite markers revealed a homozygous region, containing a candidate gene FKBP10, among affected members on chromosome 17q21...
March 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/26039104/fk506-binding-protein-10-a-potential-novel-drug-target-for-idiopathic-pulmonary-fibrosis
#11
Claudia A Staab-Weijnitz, Isis E Fernandez, Larissa Knüppel, Julia Maul, Katharina Heinzelmann, Brenda M Juan-Guardela, Elisabeth Hennen, Gerhard Preissler, Hauke Winter, Claus Neurohr, Rudolf Hatz, Michael Lindner, Jürgen Behr, Naftali Kaminski, Oliver Eickelberg
RATIONALE: Increased abundance and stiffness of the extracellular matrix, in particular collagens, is a hallmark of idiopathic pulmonary fibrosis (IPF). FK506-binding protein 10 (FKBP10) is a collagen chaperone, mutations of which have been indicated in the reduction of extracellular matrix stiffness (e.g., in osteogenesis imperfecta). OBJECTIVES: To assess the expression and function of FKBP10 in IPF. METHODS: We assessed FKBP10 expression in bleomycin-induced lung fibrosis (using quantitative reverse transcriptase-polymerase chain reaction, Western blot, and immunofluorescence), analyzed microarray data from 99 patients with IPF and 43 control subjects from a U...
August 15, 2015: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/25931047/bruck-syndrome-a-rare-syndrome-of-bone-fragility-and-joint-contracture-and-novel-homozygous-fkbp10-mutation
#12
Hossein Moravej, Hamdollah Karamifar, Zohreh Karamizadeh, Gholamhossein Amirhakimi, Sepideh Atashi, Shiva Nasirabadi
Bruck syndrome is an autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. According to the genotype, it has been classified into types 1 and 2. Recently, mutations in FKBP10, localised to chromosome 17q21, have been identified in some patients of Bruck syndrome. Twenty-seven patients of this syndrome have been reported so far. We present a new patient of this syndrome, with frequent fractures, congenital joint contractures, kyphoscoliosis, bilateral clubfoot, and pectus carinatum...
2015: Endokrynologia Polska
https://www.readbyqxmd.com/read/25742658/development-of-a-high-throughput-resequencing-array-for-the-detection-of-pathogenic-mutations-in-osteogenesis-imperfecta
#13
Yao Wang, Yazhou Cui, Xiaoyan Zhou, Jinxiang Han
OBJECTIVE: Osteogenesis imperfecta (OI) is a rare inherited skeletal disease, characterized by bone fragility and low bone density. The mutations in this disorder have been widely reported to be on various exonal hotspots of the candidate genes, including COL1A1, COL1A2, CRTAP, LEPRE1, and FKBP10, thus creating a great demand for precise genetic tests. However, large genome sizes make the process daunting and the analyses, inefficient and expensive. Therefore, we aimed at developing a fast, accurate, efficient, and cheaper sequencing platform for OI diagnosis; and to this end, use of an advanced array-based technique was proposed...
2015: PloS One
https://www.readbyqxmd.com/read/25565926/novel-deletion-of-serpinf1-causes-autosomal-recessive-osteogenesis-imperfecta-type-vi-in-two-brazilian-families
#14
Renata Moldenhauer Minillo, Nara Sobreira, Maria de Fatima de Faria Soares, Julie Jurgens, Hua Ling, Kurt N Hetrick, Kimberly F Doheny, David Valle, Decio Brunoni, Ana B Alvarez Perez
Autosomal recessive osteogenesis imperfecta (OI) accounts for 10% of all OI cases, and, currently, mutations in 10 genes (CRTAP, LEPRE1, PPIB, SERPINH1, FKBP10, SERPINF1, SP7, BMP1, TMEM38B, and WNT1) are known to be responsible for this form of the disease. PEDF is a secreted glycoprotein of the serpin superfamily that maintains bone homeostasis and regulates osteoid mineralization, and it is encoded by SERPINF1, currently associated with OI type VI (MIM 172860). Here, we report a consanguineous Brazilian family in which multiple individuals from at least 4 generations are affected with a severe form of OI, and we also report an unrelated individual from the same small city in Brazil with a similar but more severe phenotype...
December 2014: Molecular Syndromology
https://www.readbyqxmd.com/read/25533479/diet-induced-unresolved-er-stress-hinders-kras-driven-lung-tumorigenesis
#15
Giorgio Ramadori, Georgia Konstantinidou, Niranjan Venkateswaran, Tommasina Biscotti, Lorraine Morlock, Mirco Galié, Noelle S Williams, Michele Luchetti, Alfredo Santinelli, Pier Paolo Scaglioni, Roberto Coppari
Dietary effects on tumor biology can be exploited to unravel cancer vulnerabilities. Here, we present surprising evidence for anti-proliferative action of high-calorie-diet (HCD) feeding on KRAS-driven lung tumors. Tumors of mice that commenced HCD feeding before tumor onset displayed defective unfolded protein response (UPR) and unresolved endoplasmic reticulum (ER) stress. Unresolved ER stress and reduced proliferation are reversed by chemical chaperone treatment. Whole-genome transcriptional analyses revealed FKBP10 as one of the most downregulated chaperones in tumors of the HCD-pre-tumor-onset group...
January 6, 2015: Cell Metabolism
https://www.readbyqxmd.com/read/25510505/hsp47-and-fkbp65-cooperate-in-the-synthesis-of-type-i-procollagen
#16
Ivan Duran, Lisette Nevarez, Anna Sarukhanov, Sulin Wu, Katrina Lee, Pavel Krejci, Maryann Weis, David Eyre, Deborah Krakow, Daniel H Cohn
Osteogenesis imperfecta (OI) is a genetic disorder that results in low bone mineral density and brittle bones. Most cases result from dominant mutations in the type I procollagen genes, but mutations in a growing number of genes have been identified that produce autosomal recessive forms of the disease. Among these include mutations in the genes SERPINH1 and FKBP10, which encode the type I procollagen chaperones HSP47 and FKBP65, respectively, and predominantly produce a moderately severe form of OI. Little is known about the biochemical consequences of the mutations and how they produce OI...
April 1, 2015: Human Molecular Genetics
https://www.readbyqxmd.com/read/25479232/a-small-molecule-inhibitor-of-etv1-yk-4-279-prevents-prostate-cancer-growth-and-metastasis-in-a-mouse-xenograft-model
#17
Said Rahim, Tsion Minas, Sung-Hyeok Hong, Sarah Justvig, Haydar Çelik, Yasemin Saygideger Kont, Jenny Han, Abraham T Kallarakal, Yali Kong, Michelle A Rudek, Milton L Brown, Bhaskar Kallakury, Jeffrey A Toretsky, Aykut Üren
BACKGROUND: The erythroblastosis virus E26 transforming sequences (ETS) family of transcription factors consists of a highly conserved group of genes that play important roles in cellular proliferation, differentiation, migration and invasion. Chromosomal translocations fusing ETS factors to promoters of androgen responsive genes have been found in prostate cancers, including the most clinically aggressive forms. ERG and ETV1 are the most commonly translocated ETS proteins. Over-expression of these proteins in prostate cancer cells results in a more invasive phenotype...
2014: PloS One
https://www.readbyqxmd.com/read/25421965/identification-of-prolyl-hydroxylation-modifications-in-mammalian-cell-proteins
#18
Patrick R Arsenault, Katherine J Heaton-Johnson, Lin-Sheng Li, Daisheng Song, Vinicius S Ferreira, Nish Patel, Stephen R Master, Frank S Lee
Prolyl hydroxylation is a PTM that plays an important role in the formation of collagen fibrils and in the oxygen-dependent regulation of hypoxia inducible factor-α (HIF-α). While this modification has been well characterized in the context of these proteins, it remains unclear to what extent it occurs in the remaining mammalian proteome. We explored this question using MS to analyze cellular extracts subjected to various fractionation strategies. In one strategy, we employed the von Hippel Lindau tumor suppressor protein, which recognizes prolyl hydroxylated HIF-α, as a scaffold for generating hydroxyproline capture reagents...
April 2015: Proteomics
https://www.readbyqxmd.com/read/25238597/novel-mutations-in-fkbp10-and-plod2-cause-rare-bruck-syndrome-in-chinese-patients
#19
Peiran Zhou, Yi Liu, Fang Lv, Min Nie, Yan Jiang, Ou Wang, Weibo Xia, Xiaoping Xing, Mei Li
Bruck syndrome (BS) is an extremely rare form of osteogenesis imperfecta characterized by congenital joint contracture, multiple fractures and short stature. We described the phenotypes of BS in two Chinese patients for the first time. The novel compound heterozygous mutations c.764_772dupACGTCCTCC (p.255_257dupHisValLeu) in exon 5 and c.1405G>T (p.Gly469X) in exon 9 of FKBP10 were identified in one proband. The novel compound heterozygous mutations c.1624delT (p.Tyr542Thrfs*18) in exon 14 and c.1880T>C (p...
2014: PloS One
https://www.readbyqxmd.com/read/25046257/what-is-new-in-genetics-and-osteogenesis-imperfecta-classification
#20
REVIEW
Eugênia R Valadares, Túlio B Carneiro, Paula M Santos, Ana Cristina Oliveira, Bernhard Zabel
OBJECTIVE: Literature review of new genes related to osteogenesis imperfecta (OI) and update of its classification. SOURCES: Literature review in the PubMed and OMIM databases, followed by selection of relevant references. SUMMARY OF THE FINDINGS: In 1979, Sillence et al. developed a classification of OI subtypes based on clinical features and disease severity: OI type I, mild, common, with blue sclera; OI type II, perinatal lethal form; OI type III, severe and progressively deforming, with normal sclera; and OI type IV, moderate severity with normal sclera...
November 2014: Jornal de Pediatria
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