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24 documents found
1: Title: Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14.
Authors: Castori, Marco, et.al. .
Journal: American journal of medical genetics. Part A (Am J Med Genet A), Vol. 179 (2): 317-321, 2019 .
Snippet: We report a 15-year-old girl with FKBP14-kEDS as a result of the recurrent c.362dupC variant, who also showed severe involvement of the lower limb muscles.
Affiliation: Division of Medical Genetics, IRCCS-Casa Sollievo della Sofferenza, Foggia, Italy. Paediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, G. Gaslini' Institute, Genoa, Italy. Laboratory of Medical Genetics, IRCCS-Bambino Gesù Children's Hospital, Rome, Italy. Division of Pediatrics, IRCCS-Casa Sollievo della Sofferenza, Foggia, Italy. Department of Radiology, IRCCS-Casa Sollievo della Sofferenza, Foggia, Italy. Department of Clinical and Experimental Medicine, Foggia University School of Medicine, Foggia, Italy. Division of Neuromuscular and Neurodegenerative Disorders, IRCCS-Bambino Gesù Children's Hospital, Rome, Italy. .
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2: Title: Cell-type-specific interrogation of CeA Drd2 neurons to identify targets for pharmacological modulation of fear extinction.
Authors: McCullough, Kenneth M, et.al. .
Journal: Translational psychiatry (Transl Psychiatr), Vol. 8 (1): 164, 2018 .
Snippet: Differentially expressed transcripts with potentially targetable gene products include Npy5r, Rxrg, Adora2a, Sst5r, Fgf3, Erbb4, Fkbp14, Dlk1, and Ssh3.
Affiliation: Division of Depression and Anxiety Disorders, McLean Hospital, Department of Psychiatry, Harvard Medical School, Boston, MA, USA. Department of Psychiatry, and Behavioral Sciences, Behavioral Neuroscience, Emory University, Atlanta, GA, USA. VA Boston Healthcare System, Boston, MA, USA. Behavioral Science Division, National Center for PTSD, Boston, MA, USA. Department of Psychiatry, Boston University School of Medicine, Boston, MA, USA. Division of Depression and Anxiety Disorders, McLean Hospital, Department of Psychiatry, Harvard Medical School, Boston, MA, USA. kressler@mclean.harvard.edu. Department of Psychiatry, and Behavioral Sciences, Behavioral Neuroscience, Emory University, Atlanta, GA, USA. kressler@mclean.harvard.edu. .
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3: Title: Comparative analysis of FKBP family protein: evaluation, structure, and function in mammals and Drosophila melanogaster.
Authors: Ghartey-Kwansah, George, et.al. .
Journal: BMC developmental biology (Bmc Dev Biol), Vol. 18 (1): 7, 2018 .
Snippet: (4) By associating with presinilin, a critical component of the Notch signaling pathway, FKBP14 is a downstream effector of Notch activation at the membrane.
Affiliation: National Engineering Laboratory for Resource Development of Endangered Crude Drugs in Northwest of China, Xi'an, 710062, China. Laboratory of Cell Biology, Genetics and Developmental Biology, Shaanxi Normal University College of Life Sciences, Xi'an, 710062, China. Ohio State University College of Medicine, Columbus, OH, USA. Chen Wellness Clinics, Wichita, KS, USA. Department of Pharmacology, Duke University Medical Center, Durham, NC, USA. University of Maryland School of Medicine, Baltimore, MD, USA. State Key Laboratory for Animal Nutrition, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing, China. Johns Hopkins University School of Medicine, Baltimore, MD, USA. National Engineering Laboratory for Resource Development of Endangered Crude Drugs in Northwest of China, Xi'an, 710062, China. xhx0708@snnu.edu.cn. Laboratory of Cell Biology, Genetics and Developmental Biology, Shaanxi Normal University College of Life Sciences, Xi'an, 710062, China. xhx0708@snnu.edu.cn. .
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4: Title: MiR-361 inhibits osteosarcoma cell lines invasion and proliferation by targeting FKBP14.
Authors: Wang, K, et.al. .
Journal: European review for medical and pharmacological sciences (Eur Rev Med Pharmacol Sci), Vol. 22 (1): 79-86, 2018 .
Snippet: PATIENTS AND METHODS: MiR-361 and FKBP14 (FK506-binding protein 14) expression in osteosarcoma samples were detected by Real-time polymerase chain reaction (PCR).
Affiliation: Department of Surgery, Yantaishan Hospital, Yantai, China. suhao78@sohu.com. .
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5: Title: Inhibitory effects of FKBP14 on human cervical cancer cells.
Authors: Sun, Lian-Yi, et.al. .
Journal: Molecular medicine reports (Mol Med Report), Vol. 16 (4): 4265-4272, 2017 .
Snippet: Furthermore, silencing FKBP14 expression decreased the protein expression levels of B‑cell lymphoma 2 (Bcl‑2), matrix metalloproteinase (MMP)2 and MMP9, and increased the levels of caspase‑3 and Bcl‑2‑associated X protein in FKBP14 shRNA‑infected HeLa and C‑33A cells.
Affiliation: Department of Medical Imaging, Jiading Maternal and Child Health Hospital, Shanghai 201821, P.R. China. .
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6: Title: A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
Authors: Giunta, Cecilia, et.al. .
Journal: Genetics in medicine : official journal of the American College of Medical Genetics (Genet Med), 2017 .
Snippet: PurposeIn 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin.
Affiliation: Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland. Department of Pediatrics I, Pediatric Neurology, Medical University of Innsbruck, Innsbruck, Austria. Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria. Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt. Ehlers-Danlos Syndrome, National Diagnostic Service, Northwick Park and St. Mark's Hospitals, Harrow, UK. Mercy Clinic Pediatric Neurology, Springfield, Missouri, and Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA. Pediatric Neurology, Goryeb Children's Hospital, Morristown, New Jersey, USA. Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA. Ehlers Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, Sheffield, UK. Kariminejad-Najmabadi Pathology &Genetics Center, Tehran, Iran. Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria. Medical Faculty of the University of Basel, and Clinic for Endocrinology, Diabetes &Metabolism, University Hospital Basel, Basel, Switzerland. South West Thames Regional Genetics Service, St. George's University Hospitals NHS Foundation Trust, UK. Department of Pediatrics University Hospital Centre Split, Split, Croatia. Dubowitz Neuromuscular Centre, UCL Institute of Child Health, Great Ormond Street Hospital, London, UK. West Midlands Regional Clinical Genetics Service and Birmingham Health Partners Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK. Department of Pediatric Neurology, Medical University of Silesia, Katowice, Poland. Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK. Department of Pediatric Neurology, Children's Hospital, Kassel, Germany. Nottingham Clinical Genetics Service, Nottingham City Hospital, Nottingham, UK. Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada. North West Thames Regional Genetics Service, Kennedy Galton Centre, London, UK. .
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7: Title: Downregulation of FKBP14 by RNA interference inhibits the proliferation, adhesion and invasion of gastric cancer cells.
Authors: Wang, Ruizhong, et.al. .
Journal: Oncology letters (Oncol Lett), Vol. 13 (4): 2811-2816, 2017 .
Snippet: In addition, the protein levels of proliferating cell nuclear antigen, matrix metalloproteinase 2 and the epithelial-mesenchymal-transition (EMT) markers β-catenin, Snail1 and Twist were repressed in gastric cancer cells with FKBP14 silenced.
Affiliation: Department of Laboratory, People's Hospital of Pudong New Area of Shanghai, Shanghai 201299, P.R. China. Department of Hyperbaric Oxygen, People's Hospital of Pudong New Area of Shanghai, Shanghai 201299, P.R. China. .
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8: Title: Ziploc-ing the structure 2.0: Endoplasmic reticulum-resident peptidyl prolyl isomerases show different activities toward hydroxyproline.
Authors: Ishikawa, Yoshihiro, et.al. .
Journal: The Journal of biological chemistry (J Biol Chem), Vol. 292 (22): 9273-9282, 2017 .
Snippet: We observed changes in activity of six rER-resident PPIases, cyclophilin B (encoded by the PPIB gene), FKBP13 (FKBP2), FKBP19 (FKBP11), FKBP22 (FKBP14), FKBP23 (FKBP7), and FKBP65 (FKBP10), due to posttranslational modifications of proline residues in the substrate.
Affiliation: From the Department of Biochemistry and Molecular Biology, Oregon Health & Science University and. Research Department, Shriners Hospital for Children, Portland, Oregon 97239. From the Department of Biochemistry and Molecular Biology, Oregon Health & Science University and hpb@shcc.org. .
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9: Title: RNAi-Mediated Downregulation of FKBP14 Suppresses the Growth of Human Ovarian Cancer Cells.
Authors: Lu, Meng, et.al. .
Journal: Oncology research (Oncol Res), Vol. 23 (6): 267-274, 2016 .
Snippet: FKBP14 belongs to the family of FK506-binding proteins (FKBPs).
Affiliation: Department of Obstetrics and Gynecology, Shanghai General Hospital of Nanjing Medical University, Shanghai, China. .
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10: Title: Ehlers-Danlos syndrome related to FKBP14 mutations: detailed cutaneous phenotype.
Authors: Bursztejn, A C, et.al. .
Journal: Clinical and experimental dermatology (Clin Exp Dermatol), Vol. 42 (1): 64-67, 2017 .
Snippet: In 2012, a new Ehlers-Danlos (ED) variant, characterized by severe progressive kyphoscoliosis, neonatal myopathy and hearing loss, with normal urinary lysylpyridinoline to hydroxylysylpyridinoline ratio and most often a recurrent homozygous mutation in the FKBP14 gene, was reported.
Affiliation: Dermatology Department, University Hospital of Strasbourg, Strasbourg, France. Department of Paediatrics I, Paediatric Neurology and Inherited Metabolic Disorders, Innsbruck Medical University, Innsbruck, Austria. .
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11: Title: FKBP14 overexpression contributes to osteosarcoma carcinogenesis and indicates poor survival outcome.
Authors: Huang, Zhongming, et.al. .
Journal: Oncotarget, Vol. 7 (26): 39872-39884, 2016 .
Snippet: FKBP14 knockdown decreased the protein levels of PCNA, CDK1 and CCNB1 that promotes cell cycle, increased Bax, caspase-3 and caspase-7 protein involved in promoting cell apoptosis, and increased KIF4A expression as well as decreased SMC4 and TMEM33 proteins that contribute to cell invasion and adhesion.
Affiliation: Department of Orthopaedic Surgery, Affiliated Jiangnan Hospital of Zhejiang Chinese Medical University, Hangzhou 310053, China. Department of Orthopaedic Surgery, Xiaoshan Chinese Medical Hospital of Zhejiang Chinese Medical University, Hangzhou 310006, China. Zhejiang Chinese Medical University, Hangzhou 310053, China. Institute of Orthopaedics and Traumatology of Zhejiang Province, Hangzhou 310053, China. Department of Orthopedic Surgery, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310053, China. Department of Orthopaedic Surgery, The First Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou 310053, China. .
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12: Title: Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.
Authors: Dordoni, Chiara, et.al. .
Journal: American journal of medical genetics. Part A (Am J Med Genet A), Vol. 170 (8): 2031-8, 2016 .
Snippet: Here, we report an additional pediatric patient, who is compound heterozygous for a recurrent and a novel FKBP14 mutation, and compare his phenotype with those available in literature.
Affiliation: Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, School of Medicine, Italy. Division of Dermatology, Department of Clinical and Experimental Sciences, Spedali Civili University Hospital, Brescia, Italy. .
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13: Title: RNAi-Mediated Downregulation of FKBP14 Suppresses the Growth of Human Ovarian Cancer Cells.
Authors: Lu, Meng, et.al. .
Journal: Oncology research (Oncol Res), Vol. 23 (6): 267-74, 2016 .
Snippet: FKBP14 belongs to the family of FK506-binding proteins (FKBPs).
Affiliation: Department of Obstetrics and Gynecology, Shanghai General Hospital of Nanjing Medical University, Shanghai, China. .
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14: Title: Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
Authors: Alazami, Anas M, et.al. .
Journal: Human genetics (Hum Genet), Vol. 135 (5): 525-40, 2016 .
Snippet: Molecular lesions included variants in the previously published disease genes B3GALT6, GORAB, ZNF469, B3GAT3, ALDH18A1, FKBP14, PYCR1, CHST14 and SPARC with interesting variations on the published clinical phenotypes.
Affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Department of Pediatrics, King Fahad Medical City, Riyadh, Saudi Arabia. Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia. Department of Pharmacognosy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia. Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Department of Orthopedics, College of Medicine, King Saud University, Riyadh, Saudi Arabia. Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia. Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. Department of Genome Sciences, University of Washington, Seattle, WA, USA. Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, Egypt. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa. .
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15: Title: The neuromuscular differential diagnosis of joint hypermobility.
Authors: Donkervoort, S, et.al. .
Journal: American journal of medical genetics. Part C, Seminars in medical genetics (Am J Med Genet C Semin Med Genet), Vol. 169C (1): 23-42, 2015 .
Snippet: In this review we will summarize the measures of joint hypermobility, illustrate molecular mechanisms these groups of disorders have in common, and subsequently discuss the clinical features of: 1) the most common connective tissue disorders with myopathic or other neuromuscular features: Ehlers-Danlos syndrome, Marfan syndrome and Loeys-Dietz syndrome; 2) myopathy and connective tissue overlap disorders (muscle extracellular matrix (ECM) disorders), including collagen VI related dystrophies and FKBP14 related kyphoscoliotic type of Ehlers-Danlos syndrome; and 3) various (congenital) myopathies with prominent joint hypermobility including RYR1- and SEPN1-related myopathy.
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16: Title: Genotype-based databases for variants causing rare diseases.
Authors: Lanthaler, Barbara, et.al. .
Journal: Gene, Vol. 550 (1): 136-40, 2014 .
Snippet: The created databases include ACAD8 (isobutyryl-CoA dehydrogenase deficiency (IBD)), ACADSB (short-chain acyl-CoA dehydrogenase (SCAD) deficiency), AUH (3-methylglutaconic aciduria (3-MGCA)), DHCR7 (Smith-Lemli-Opitz syndrome), HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency), HSD17B10 (17-beta-hydroxysteroid dehydrogenase X deficiency), FKBP14 (Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; EDSKMH) and ROGDI (Kohlschütter-Tönz syndrome).
Affiliation: Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria. Department of Paediatrics and Adolescent Medicine, Hospital Salzburg, Salzburg, Austria. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria. Electronic address: witsch-baumgartner@i-med.ac.at. .
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17: Title: Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome.
Authors: Aldeeri, A A, et.al. .
Journal: Clinical genetics (Clin Genet), Vol. 86 (5): 469-72, 2014 .
Snippet: In this article, we report for the first time the occurrence of this distinct clinical sign in association with two other syndromes: Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome (EDS).
Affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. .
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18: Title: FKBP14-related Ehlers-Danlos syndrome: expansion of the phenotype to include vascular complications.
Authors: Murray, Mitzi L, et.al. .
Journal: American journal of medical genetics. Part A (Am J Med Genet A), Vol. 164 (7): 1750-5, 2014 .
Snippet: This report expands the phenotype of FKBP14-related EDS to include risk for vascular complications and also raises the question of whether the shared haplotype represents a risk allele or founder mutation.
Affiliation: Department of Pathology, University of Washington, Seattle, Washington; Department of Medicine (Medical Genetics), University of Washington, Seattle, Washington. .
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19: Title: Structure of human peptidyl-prolyl cis-trans isomerase FKBP22 containing two EF-hand motifs.
Authors: Boudko, Sergei P, et.al. .
Journal: Protein science : a publication of the Protein Society (Protein Sci), Vol. 23 (1): 67-75, 2014 .
Snippet: Four of them, FKBP22 (encoded by the FKBP14 gene), FKBP23 (FKBP7), FKBP60 (FKBP9), and FKBP65 (FKBP10), are unique among all FKBPs as they contain the EF-hand motifs.
Affiliation: Research Department, Shriners Hospital for Children, Portland, Oregon, 97239; Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, Oregon, 97239. .
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20: Title: FKBP14 is an essential gene that regulates Presenilin protein levels and Notch signaling in Drosophila.
Authors: van de Hoef, Diana L, et.al. .
Journal: Development (Cambridge, England) (Development), Vol. 140 (4): 810-9, 2013 .
Snippet: We previously identified FKBP14, a member of the family of FK506-binding proteins (FKBPs), as a modifier of Presenilin in Drosophila.
Affiliation: The Hospital for Sick Children, Program in Developmental and Stem Cell Biology and Department of Molecular Genetics, University of Toronto, MaRS Toronto Medical Discovery Tower, 101 College Street, Room 12-305, Toronto, ON M5G 1L7, Canada. gboul@sickkids.ca .
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