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Πέμπτη 9 Φεβρουαρίου 2017

Genetics in OtolRhinoLaryngology


08:35
OtoRhinoLaryngology - Alexandros G. Sfakianakis
RAAS inhibition and the course of Alport syndrome.
 
 Authors: Savva I, Pierides A, Deltas CAbstract Alport syndrome (AS) is a hereditary progressive glomerulonephritis with a high life-time risk for end-stage renal disease (ESRD). Most patients will reach ESRD before the age of 30 years, while a subset of them with milder mutations will do so...
08:35
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Genetic Correction of Induced Pluripotent Stem Cells From a Deaf Patient With MYO7A Mutation Results in Morphologic and Functional Recovery of the Derived Hair Cell-Like Cells.
 
Authors: Tang ZH, Chen JR, Zheng J, Shi HS, Ding J, Qian XD, Zhang C, Chen JL, Wang CC, Li L, Chen JZ, Yin SK, Huang TS, Chen P, Guan MX, Wang JFAbstractUNLABELLED: The genetic correction of induced pluripotent stem cells (iPSCs) induced from somatic cells of patients with sensorineural hearing loss...
08:34
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Genetics: A New Frontier in Otology.
 
Genetics: A New Frontier in OtologyIndian J Otolaryngol Head Neck Surg.Authors: Kameswaran M, Sudhamaheswari S, Natarajan KAbstractMolecular genetics is a rapidly expanding field with possibilities for novel diagnostic and treatment strategies for otological diseases. Gene therapy, if theory is proven...
08:29
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Deafness-Dystonia Syndrome Treated with DBS-GPi.
 
Long-Term Follow-Up with Video of a Patient with Deafness-Dystonia Syndrome Treated with DBS-GPi.: Authors: Dulski J, Schinwelski M, Mandat T, Pienczk-Ręcławowicz K, Sławek JAbstract BACKGROUND: The prevalence of deafness-dystonia syndrome (DDS) is relatively low. To our knowledge, only 2 cases...
08:28
OtoRhinoLaryngology - Alexandros G. Sfakianakis
MiR-210 promotes sensory hair cell formation in the organ of corti.
 
 Authors: Riccardi S, Bergling S, Sigoillot F, Beibel M, Werner A, Leighton-Davies J, Knehr J, Bouwmeester T, Parker CN, Roma G, Kinzel BAbstract BACKGROUND: Hearing loss is the most common sensory defect afflicting several hundred million people worldwide. In most cases, regardless of the original...
08:28
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus.
 
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.: Authors: Gross O, Kashtan CE, Rheault MN, Flinter F, Savige J, Miner JH, Torra R, Ars E, Deltas C, Savva I, Perin L, Renieri A, Ariani F, Mari F, Baigent...
08:27
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Identification of Adeno-Associated Viral Vectors That Target Neonatal and Adult Mammalian Inner Ear Cell Subtypes.
 
Identification of Adeno-Associated Viral Vectors That Target Neonatal and Adult Mammalian Inner Ear Cell Subtypes.:Hum Gene Ther.Authors: Shu Y, Tao Y, Wang Z, Tang Y, Li H, Dai P, Gao G, Chen ZYAbstract The mammalian inner ear consists of diverse cell types with important functions. Gene mutations...
08:26
OtoRhinoLaryngology - Alexandros G. Sfakianakis
S1PR2 variants associated with auditory function in humans and endocochlear potential decline in mouse.
 
Authors: Ingham NJ, Carlisle F, Pearson S, Lewis MA, Buniello A, Chen J, Isaacson RL, Pass J, White JK, Dawson SJ, Steel KPAbstract Progressive hearing loss is very common in the population but we still know little about the underlying pathology. A new spontaneous mouse mutation (stonedeaf,...
08:26
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Study of streptomycin-induced ototoxicity: protocol for a longitudinal study.
 
Authors: Adeyemo AA, Oluwatosin O, Omotade OOAbstract Hearing impairment is due to various causes including ototoxicity from aminoglycosides. The susceptibility to aminoglycosides increases in the presence of certain mitochondria gene mutations. There is unrestrained use of aminoglycosides...
08:25
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
 
Authors: Nikopoulos K, Farinelli P, Giangreco B, Tsika C, Royer-Bertrand B, Mbefo MK, Bedoni N, Kjellström U, El Zaoui I, Di Gioia SA, Balzano S, Cisarova K, Messina A, Decembrini S, Plainis S, Blazaki SV, Khan MI, Micheal S, Boldt K, Ueffing M, Moulin AP, Cremers FP, Roepman R, Arsenijevic Y, Tsilimbaris...
08:24
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Globoid cell leukodystrophy (GLD), or Krabbe's disease, is a debilitating and always fatal pediatric neurodegenerative disease caused by a mutation in the gene encoding the hydrolytic enzyme galactosylceramidase (GALC). In the absence of GALC, progressive loss of myelin and accumulation of a neurotoxic substrate lead to incapacitating loss of motor and cognitive function and ....
 
Clinical, electrophysiological, and biochemical markers of peripheral and central nervous system disease in canine globoid cell leukodystrophy (Krabbe's disease).: Authors: Bradbury AM, Bagel JH, Jiang X, Swain GP, Prociuk ML, Fitzgerald CA, O'Donnell PA, Braund KG, Ory DS, Vite CHAbstract Globoid...
08:23
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Inhibition of Skp2 sensitizes lung cancer cells to paclitaxel.
 
Related Articles Inhibition of Skp2 sensitizes lung cancer cells to paclitaxel. Onco Targets Ther. 2017;10:439-446 Authors: Huang T, Yang L, Wang G, Ding G, Peng B, Wen Y, Wang Z Abstract S-phase kinase-associated protein 2 (Skp2) is an E3 ubiquitin ligase and plays an important role in the control...
08:23
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Maximizing Synergistic Activity When Combining RNAi and Platinum-based Anticancer Agents.
 
Related Articles Maximizing Synergistic Activity When Combining RNAi and Platinum-based Anticancer Agents. J Am Chem Soc. 2017 Feb 06;: Authors: Xiao H, Qi R, Li T, Awuah SG, Zheng Y, Wei W, Kang X, Song H, Wang Y, Yu Y, Bird MA, Jing X, Yaffe MB, Birrer MJ, Ghoroghchian PP Abstract RNAi approaches...
08:23
OtoRhinoLaryngology - Alexandros G. Sfakianakis
In Vitro Models of GJB2-Related Hearing Loss Recapitulate Ca(2+) Transients via a Gap Junction Characteristic of Developing Cochlea.
 
Authors: Fukunaga I, Fujimoto A, Hatakeyama K, Aoki T, Nishikawa A, Noda T, Minowa O, Kurebayashi N, Ikeda K, Kamiya KAbstract Mutation of the Gap Junction Beta 2 gene (GJB2) encoding connexin 26 (CX26) is the most frequent cause of hereditary deafness worldwide and accounts for up to 50% of...
08:22
OtoRhinoLaryngology - Alexandros G. Sfakianakis
ER stress inhibitor attenuates hearing loss and hair cell death in Cdh23(erl/erl) mutant mice.
 
 Authors: Hu J, Li B, Apisa L, Yu H, Entenman S, Xu M, Stepanyan R, Guan BJ, Müller U, Hatzoglou M, Zheng QYAbstractHearing loss is one of the most common sensory impairments in humans. Mouse mutant models helped us to better understand the mechanisms of hearing loss. Recently, we have discovered that...
08:18
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Variants in WFS1 and other Mendelian deafness genes are associated with cisplatin-associated ototoxicity.
 
Variants in WFS1 and other Mendelian deafness genes are associated with cisplatin-associated ototoxicityClin Cancer Res.Authors: Wheeler HE, Gamazon ER, Frisina R, Perez-Cervantes C, El Charif O, Mapes B, Fossa SD, Feldman D, Hamilton R, Vaughn DJ, Beard C, Fung C, Kollmannsberger C, Kim J, Mushiroda...
08:17
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation.
 
Authors: Slijkerman RW, Vaché C, Dona M, García-García G, Claustres M, Hetterschijt L, Peters TA, Hartel BP, Pennings RJ, Millan JM, Aller E, Garanto A, Collin RW, Kremer H, Roux AF, Van Wijk EAbstract Usher syndrome (USH) is the most common cause of combined deaf-blindness in man. The hearing...
08:17
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Identification of novel functional null allele of SLC26A4 associated with enlarged vestibular aqueduct and its possible implication.
 
Authors: Jang JH, Jung J, Kim AR, Cho YM, Kim MY, Lee SY, Choi JY, Lee JH, Choi BYAbstractMutations in the SLC26A4 gene, which encodes pendrin, cause congenital hearing loss as a manifestation of Pendred syndrome (PS) with an iodide organification defect or nonsyndromic enlarged vestibular aqueduct...
08:16
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.
 
Authors: Mathur P, Yang JAbstract Usher syndrome (USH), clinically and genetically heterogeneous, is the leading genetic cause of combined hearing and vision loss. USH is classified into three types, based on the hearing and vestibular symptoms observed in patients. Sixteen loci have been...
08:16
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Hair cell stereociliary bundle regeneration by espin gene transduction after aminoglycoside damage and hair cell induction by Notch inhibition.
 
Authors: Taura A, Taura K, Koyama Y, Yamamoto N, Nakagawa T, Ito J, Ryan AFAbstract Once inner ear hair cells (HCs) are damaged by drugs, noise or aging, their apical structures including the stereociliary arrays are frequently the first cellular feature to be lost. Although this can be followed...
08:16
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Rescue of Hearing by Gene Delivery to Inner-Ear Hair Cells Using Exosome-Associated AAV.
 
Rescue of Hearing by Gene Delivery to Inner-Ear Hair Cells Using Exosome-Associated AAV.:Mol Ther. 2017 Feb 01;25(2):379-391Authors: György B, Sage C, Indzhykulian AA, Scheffer DI, Brisson AR, Tan S, Wu X, Volak A, Mu D, Tamvakologos PI, Li Y, Fitzpatrick Z, Ericsson M, Breakefield XO, Corey DP, Maguire...
08:16
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Adenovirus Vectors Target Several Cell Subtypes of Mammalian Inner Ear In Vivo.
 
Authors: Shu Y, Tao Y, Li W, Shen J, Wang Z, Chen ZYAbstract Mammalian inner ear harbors diverse cell types that are essential for hearing and balance. Adenovirus is one of the major vectors to deliver genes into the inner ear for functional studies and hair cell regeneration. To identify adenovirus...
08:10
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Gene therapies for hearing loss : A synthetic AAV vector enables safe and efficient gene transfer to the mammalian inner ear.
 
A synthetic AAV vector enables safe and efficient gene transfer to the mammalian inner ear.:Nat Biotechnol. 2017 Feb 06;:Authors: Landegger LD, Pan B, Askew C, Wassmer SJ, Gluck SD, Galvin A, Taylor R, Forge A, Stankovic KM, Holt JR, Vandenberghe LHAbstractEfforts to develop gene therapies for hearing...
08:08
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Advance gene therapy approaches to treat genetic deafness : Gene therapy restores auditory and vestibular function in Usher syndrome type 1c
 
Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c.:Nat Biotechnol. 2017 Feb 06;:Authors: Pan B, Askew C, Galvin A, Heman-Ackah S, Asai Y, Indzhykulian AA, Jodelka FM, Hastings ML, Lentz JJ, Vandenberghe LH, Holt JR, Géléoc GSAbstractBecause there are currently...
08:04
OtorhinolaryngologySfakianakis
Menkes disease and response to copper histidine: An Indian case series
 
Sangeetha Yoganathan, Sniya Valsa Sudhakar, Gautham Arunachal, Maya Thomas, Annadurai Subramanian, Renu George, Sumita Danda Annals of Indian Academy of Neurology 2017 20(1):62-68 Background: Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A gene....
08:02
OtorhinolaryngologySfakianakis
Transforming growth factor-β1 (C509T, G800A, and T869C) gene polymorphisms and risk of ischemic stroke in North Indian population: A hospital-based case-control study
 
Pradeep Kumar, Shubham Misra, Amit Kumar, Mohammad Faruq, Sunil Shakya, Gyan Vardhan, Subiah Vivekanandhan, Achal Kumar Srivastava, Kameshwar Prasad Annals of Indian Academy of Neurology 2017 20(1):5-12 Background: Transforming growth factor-beta 1 (TGF-β1) is a multifunctional pleiotropic cytokine...
08:01
OtorhinolaryngologySfakianakis
Pregnancy reduces severity and frequency of attacks in hyperkalemic periodic paralysis due to the mutation c.2111C>T in the SCN4A gene
 
Josef Finsterer, Salma Majid Wakil, Franco Laccone Annals of Indian Academy of Neurology 2017 20(1):75-76 http://ift.tt/2kUXAFy
06:41
OtorhinolaryngologySfakianakis
The serotonin transporter polymorphism (5-HTTLPR) and coping strategies influence successful emotion regulation in an acute stress situation: Physiological evidence
 
Publication date: Available online 9 February 2017Source:International Journal of Psychophysiology Author(s): Thomas Plieger, Martin Melchers, Annabel Vetterlein, Janina Görtz, Sarah Kuhn, Melissa Ruppel, Martin Reuter IntroductionEmotion regulation is an important everyday-life skill to reduce harm...
05:18
OtoRhinoLaryngology - Alexandros G. Sfakianakis
ANGPTL6 expression is coupled with mitochondrial OXPHOS function to regulate adipose FGF21
 
Recent studies revealed that the inhibition of mitochondrial oxidative phosphorylation (OXPHOS) is coupled with the mitochondrial unfolded protein response, thereby stimulating the secretion of non-cell-autonomous factors, which may control systemic energy metabolism and longevity. However, the nature...
03:16
OtorhinolaryngologySfakianakis
Tropomyosin-1 acts as a potential tumor suppressor in human oral squamous cell carcinoma
 
by Hao Pan, Liqun Gu, Binjie Liu, Yiping Li, Yuehong Wang, Xinna Bai, Long Li, Baisheng Wang, Qian Peng, Zhigang Yao, Zhangui TangIt is widely accepted that oral squamous cell carcinoma (OSCC) is a major contributor to the incidence and mortality of neck and head cancer. Tropomyosin-1 (TPM1), which is...
01:21
OtorhinolaryngologySfakianakis
The microbiome of bulk tank milk: Characterization and associations with somatic cell count and bacterial count
 
Publication date: Available online 9 February 2017Source:Journal of Dairy Science Author(s): M.X. Rodrigues, S.F. Lima, S.G. Canniatti-Brazaca, R.C. Bicalho Numerous studies have evaluated associations between bacterial groups and milk quality parameters. However, to our knowledge, no research has...
01:21
OtorhinolaryngologySfakianakis
Dynamics of the microbiota found in the vaginas of dairy cows during the transition period: Associations with uterine diseases and reproductive outcome
 
Publication date: Available online 8 February 2017Source:Journal of Dairy Science Author(s): M.L.S. Bicalho, T. Santin, M.X. Rodrigues, C.E. Marques, S.F. Lima, R.C. Bicalho We investigated the microbiota found in the vaginas of Holstein dairy cows during the transition period and described the differences...
Thu Feb 09, 2017 23:12
OtoRhinoLaryngology Now by Alexandros G. Sfakianakis
ATXN2 trinucleotide repeat length correlates with risk of ALS
 
Publication date: March 2017Source:Neurobiology of Aging, Volume 51 Author(s): William Sproviero, Aleksey Shatunov, Daniel Stahl, Maryam Shoai, Wouter van Rheenen, Ashley R. Jones, Safa Al-Sarraj, Peter M. Andersen, Nancy M. Bonini, Francesca L. Conforti, Philip Van Damme, Hussein Daoud, Maria Del Mar...
Thu Feb 09, 2017 23:12
OtoRhinoLaryngology Now by Alexandros G. Sfakianakis
Quantitative EEG during normal aging: association with the Alzheimer's disease genetic risk variant in PICALM gene
 
Publication date: March 2017Source:Neurobiology of Aging, Volume 51 Author(s): Natalya V. Ponomareva, Tatiana V. Andreeva, Maria S. Protasova, Lef I. Shagam, Daria D. Malina, Andrey Yu. Goltsov, Vitaly F. Fokin, Sergey N. Illarioshkin, Evgeny I. Rogaev Genome-wide association studies have identified...
Thu Feb 09, 2017 22:52
OtorhinolaryngologySfakianakis
Differences in the frequencies of HLA-class I and II alleles between German patients with renal cell carcinoma and healthy controls
 
AbstractThe human leukocyte antigen (HLA) system is a major part of the human immune system and has an impact on tumor initiation, tumor progression, and immunosurveillance. Renal cell carcinoma tumors are considered to be immunogenic. Therefore, we studied the allele frequencies of four gene loci (HLA-A,...
Thu Feb 09, 2017 20:51
OtorhinolaryngologySfakianakis
Molecular alterations in lesions of anogenital mammary-like glands and their mammary counterparts including hidradenoma papilliferum, intraductal papilloma, fibroadenoma and phyllodes tumor
 
Publication date: Available online 9 February 2017Source:Annals of Diagnostic Pathology Author(s): Anastasia M. Konstantinova, Tomas Vanecek, Petr Martinek, Liubov Kyrpychova, Dominic V. Spagnolo, Colin J.R. Stewart, Francesca Portelli, Michal Michal, Dmitry V. Kazakov Lesions affecting anogenital...
Thu Feb 09, 2017 20:33
OtoRhinoLaryngology by Sfakianakis G.Alexandros
Complete chloroplast genomes from apomictic Taraxacum (Asteraceae): Identity and variation between three microspecies
 
by Rubar Hussein M. Salih, Ľuboš Majeský, Trude Schwarzacher, Richard Gornall, Pat Heslop-Harrison Chloroplast DNA sequences show substantial variation between higher plant species, and less variation within species, so are typically excellent markers to investigate evolutionary, population and genetic...
Thu Feb 09, 2017 19:50
OtorhinolaryngologySfakianakis
A case of mosaicism in ectodermal dysplasia – skin fragility syndrome
 
Summary Ectodermal dysplasia-skin fragility syndrome (ED-SFS) is an autosomal recessive genodermatosis characterized by skin fragility, chronic cheilitis, palmoplantar keratoderma, abnormal hair growth and nail dystrophy. ED-SFS is caused by mutations in the PKP1 gene encoding pakophilin-1 (PKP1),...
Thu Feb 09, 2017 16:47
OtorhinolaryngologySfakianakis
KRAS and PIK3CA mutations in colorectal adenocarcinomas correlate with aggressive histological features and behavior
 
Publication date: Available online 8 February 2017Source:Human Pathology Author(s): Sejin Jang, Mineui Hong, Mi Kyung Shin, Byung Chun Kim, Hyung-Sik Shin, Eunsil Yu, Seung-Mo Hong, Jihun Kim, Sung Min Chun, Tae-Im Kim, Kyung-Chan Choi, Young Woong Ko, Jeong Won Kim Tumor budding (TB) in colorectal...
Thu Feb 09, 2017 16:46
OtorhinolaryngologySfakianakis
Loss of PAR-3 protein expression is associated with invasion, lymph node metastasis, and poor survival in esophageal squamous cell carcinoma
 
Publication date: Available online 8 February 2017Source:Human Pathology Author(s): Tomoko Kitaichi, Kohichiroh Yasui, Yasuyuki Gen, Osamu Dohi, Naoto Iwai, Akira Tomie, Nobuhisa Yamada, Kei Terasaki, Atsushi Umemura, Taichiro Nishikawa, Kanji Yamaguchi, Michihisa Moriguchi, Yoshio Sumida, Hironori...
Thu Feb 09, 2017 15:12
OtoRhinoLaryngology by Sfakianakis G.Alexandros
Absence of the Frequently Reported PIK3CA, CASP8 and NOTCH1 Mutations in South Indian Oral Cancers
 
Abstract Objectives Somatic mutations of the PIK3CA, CASP8 and NOTCH1 have been frequently detected in various human cancers. Our study aims to analyze the mutational status of these genes in South Indian oral cancers. Subjects and Methods We performed mutational analysis of the PIK3CA (exons 9 &...
Thu Feb 09, 2017 14:56
OtoRhinoLaryngology Now by Alexandros G. Sfakianakis
An Up-to-date Approach to a Patient with a Suspected Autoinflammatory Disease.
 
Related Articles An Up-to-date Approach to a Patient with a Suspected Autoinflammatory Disease. Rambam Maimonides Med J. 2017 Jan 30;8(1): Authors: Lidar M, Giat E Abstract Autoinflammatory diseases (AID) are characterized by seemingly unprovoked self-limited attacks of fever and systemic inflammation...
Thu Feb 09, 2017 14:51
OtorhinolaryngologySfakianakis
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.
 
Related Articles An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes. Orphanet J Rare Dis. 2017 Feb 07;12(1):24 Authors: Le Quesne Stabej P, James C, Ocaka L, Tekman M, Grunewald S, Clement E, Stanescu HC, Kleta R, Morrogh D, Calder A,...
Thu Feb 09, 2017 13:06
OtorhinolaryngologySfakianakis
Spectrum of Mismatch Repair Gene Mutations and Clinical Presentation of Hispanic Individuals with Lynch syndrome
 
Publication date: Available online 9 February 2017Source:Cancer Genetics Author(s): Annette Y. Sunga, Charité Ricker, Carin R. Espenschied, Danielle Castillo, Marilena Melas, Josef Herzog, Sarah Bannon, Marcia Cruz-Correa, Patrick Lynch, Ilana Solomon, Stephen B. Gruber, Jeffrey N. Weitzel Lynch syndrome...
Thu Feb 09, 2017 07:41
OtorhinolaryngologySfakianakis
Vial usage, device dead space, vaccine wastage, and dose accuracy of intradermal delivery devices for inactivated poliovirus vaccine (IPV)
 
Publication date: Available online 8 February 2017Source:Vaccine Author(s): Courtney Jarrahian, Annie Rein-Weston, Gene Saxon, Ben Creelman, Greg Kachmarik, Abhijeet Anand, Darin Zehrung IntroductionIntradermal delivery of a fractional dose of inactivated poliovirus vaccine (IPV) offers potential benefits...
Thu Feb 09, 2017 04:51
OtorhinolaryngologySfakianakis
Pseudogenization of the Secreted Effector Gene sseI Confers Rapid Systemic Dissemination of S. Typhimurium ST313 within Migratory Dendritic Cells
 
Publication date: 8 February 2017Source:Cell Host & Microbe, Volume 21, Issue 2 Author(s): Sarah E. Carden, Gregory T. Walker, Jared Honeycutt, Kyler Lugo, Trung Pham, Amanda Jacobson, Donna Bouley, Juliana Idoyaga, Renee M. Tsolis, Denise Monack Genome degradation correlates with host adaptation...
Thu Feb 09, 2017 04:06
OtorhinolaryngologySfakianakis
Barriers, perceptions, and adherence: Hand hygiene in the operating room and endoscopy suite
 
Publication date: Available online 8 February 2017Source:American Journal of Infection Control Author(s): Laura Pedersen, Kimberly Elgin, Barbara Peace, Nadia Masroor, Michelle Doll, Kakotan Sanogo, Wilhelm Zuelzer, Gene Peterson, Michael P. Stevens, Gonzalo Bearman We examined the perceptions and...
Thu Feb 09, 2017 01:58
OtoRhinoLaryngology by Sfakianakis G.Alexandros
HIV-1 molecular epidemiology among newly diagnosed HIV-1 individuals in Hebei, a low HIV prevalence province in China
 
by Xinli Lu, Xianjiang Kang, Yongjian Liu, Ze Cui, Wei Guo, Cuiying Zhao, Yan Li, Suliang Chen, Jingyun Li, Yuqi Zhang, Hongru Zhao New human immunodeficiency virus type 1 (HIV-1) diagnoses are increasing rapidly in Hebei. The aim of this study presents the most extensive HIV-1 molecular epidemiology...
Thu Feb 09, 2017 01:41
OtorhinolaryngologySfakianakis
Early-Onset Parkinsonism: Case Report and Review of the Literature
 
Publication date: February 2017Source:Pediatric Neurology, Volume 67 Author(s): Ahmed Al-Rumayyan, Christine Klein, Majid Alfadhel BackgroundEarly-onset parkinsonism can be caused by PTEN-induced putative kinase 1 (PINK1) gene defects and is usually characterized by an age of onset in the fourth decade...
Thu Feb 09, 2017 01:06
OtorhinolaryngologySfakianakis
Potential Predictive Role of MicroRNAs in the Neoadjuvant Treatment of Esophageal Cancer
 
Esophageal cancer is a disease with disappointing prognosis. Currently, there are no predictive factors that can identify patients who on the one hand would likely benefit from tri-modality management and, on the other hand, would not be significantly affected by the morbidity accompanying the treatment....
Wed Feb 08, 2017 21:19
OtoRhinoLaryngology by Sfakianakis G.Alexandros
Characterization of Ghrelin O-Acyltransferase (GOAT) in goldfish (Carassius auratus)
 
by Ayelén Melisa Blanco, Miguel Gómez-Boronat, Ángel Luis Alonso-Gómez, Roman Yufa, Suraj Unniappan, María Jesús Delgado, Ana Isabel Valenciano Ghrelin is the only known hormone posttranslationally modified with an acylation. This modification is crucial for most of ghrelin's physiological effects and...
Wed Feb 08, 2017 21:19
OtoRhinoLaryngology by Sfakianakis G.Alexandros
Substrate-analogous inhibitors exert antimalarial action by targeting the Plasmodium lactate transporter PfFNT at nanomolar scale
 
by André Golldack, Björn Henke, Bärbel Bergmann, Marie Wiechert, Holger Erler, Alexandra Blancke Soares, Tobias Spielmann, Eric Beitz Resistance against all available antimalarial drugs calls for novel compounds that hit unexploited targets in the parasite. Here, we show that the recently discovered...
Wed Feb 08, 2017 16:07
OtorhinolaryngologySfakianakis
Mediator, SWI/SNF and SAGA complexes regulate Yap8-dependent transcriptional activation of ACR2 in response to arsenate
 
Publication date: Available online 7 February 2017Source:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms Author(s): Regina Andrade Menezes, Catarina Pimentel, Ana Rita Courelas Silva, Catarina Amaral, Jawad Merhej, Frédéric Devaux, Claudina Rodrigues-Pousada Response to arsenic stress...
Wed Feb 08, 2017 15:11
OtorhinolaryngologySfakianakis
IL-20 contributes to low grade inflammation and weight gain in the Psammomys obesus
 
Publication date: April 2017Source:International Immunopharmacology, Volume 45 Author(s): Helena Cucak, Lise Høj Thomsen, Alexander Rosendahl The metabolic syndrome has been demonstrated in gene deficient animals, e.g. db/db mice, to include a systemic inflammation leading to insulin resistance, obesity...
Wed Feb 08, 2017 14:40
OtorhinolaryngologySfakianakis
Acute exercise elicits differential expression of insulin resistance genes in the skeletal muscle of patients with polycystic ovary syndrome
 
Abstract Objective This study aimed to explore the role of acute exercise on skeletal muscle gene expression related to insulin resistance in patients with polycystic ovary syndrome (PCOS) and controls. Methods Four obese women with PCOS and 4 body controls subjects (CTRL) participated...
Wed Feb 08, 2017 14:16
OtoRhinoLaryngology - Alexandros G. Sfakianakis
· Microvascular Decompression (MVD) · Radiosurgery · Radiofrequency Lesioning (also called radiofrequency rhizotomy) Trigeminal Neuralgia Treatment
 
Trigeminal Neuralgia TreatmentTrigeminal neuralgia, also called tic doulourex, is a rare neurological disease that causes sudden, severe, brief, stabbing recurrent episodes of facial pain in one or more branches of the trigeminal nerve. It is usually caused when the trigeminal nerve is being compressed...
Wed Feb 08, 2017 12:36
OtorhinolaryngologySfakianakis
Role of miRNAs in human cancer metastasis: implications for therapeutic intervention
 
Publication date: Available online 8 February 2017Source:Seminars in Cancer Biology Author(s): Mohammad Alam Jafri, Mohammed Hussein Al-Qahtani, Jerry William Shay Metastasis is the spread and growth of localized cancer to new locations in the body and is considered the main cause of cancer-related...
Wed Feb 08, 2017 12:07
OtorhinolaryngologySfakianakis
Shared genetic variants suggest common pathways in allergy and autoimmune diseases
 
Publication date: Available online 8 February 2017Source:Journal of Allergy and Clinical ImmunologyAuthor(s): Eskil Kreiner, Johannes Waage, Marie Standl, Susanne Brix, Tune H. Pers, Alexessander Couto Alves, Nicole M. Warrington, Carla MT. Tiesler, Elaine Fuertes, Lude Franke, Joel N. Hirschhorn, Alan...
Wed Feb 08, 2017 11:20
OtorhinolaryngologySfakianakis
The Hippo Pathway as Drug Targets in Cancer Therapy and Regenerative Medicine
 
Yes-associated protein 1 (YAP1) and transcriptional co-activator with PDZ-binding motif (TAZ) co-operate with numerous transcription factors to regulate gene transcriptions. YAP1 and TAZ are negatively regulated by the tumor suppressive Hippo pathway. In human cancers, the Hippo pathway is frequently...
Wed Feb 08, 2017 08:10
OtoRhinoLaryngology - Alexandros G. Sfakianakis
A synthetic AAV vector enables safe and efficient gene transfer to the mammalian inner ear.
 
A synthetic AAV vector enables safe and efficient gene transfer to the mammalian inner ear. Nat Biotechnol. 2017 Feb 06;: Authors: Landegger LD, Pan B, Askew C, Wassmer SJ, Gluck SD, Galvin A, Taylor R, Forge A, Stankovic KM, Holt JR, Vandenberghe LH Abstract Efforts to develop gene therapies for...
Wed Feb 08, 2017 08:10
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c.
 
Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c. Nat Biotechnol. 2017 Feb 06;: Authors: Pan B, Askew C, Galvin A, Heman-Ackah S, Asai Y, Indzhykulian AA, Jodelka FM, Hastings ML, Lentz JJ, Vandenberghe LH, Holt JR, Géléoc GS Abstract Because there...
Wed Feb 08, 2017 08:06
OtoRhinoLaryngology - Alexandros G. Sfakianakis
The Effect of Botulinum Toxin Type A on Expression Profiling of Long Noncoding RNAs in Human Dermal Fibroblasts
 
The Effect of Botulinum Toxin Type A on Expression Profiling of Long Noncoding RNAs in Human Dermal Fibroblasts: Objective. This study was aimed at analyzing the expressions of long noncoding RNAs (lncRNAs) in Botulinum Toxin Type A (BoNTA) treated human dermal fibroblasts (HDFs) in vitro. Methods. We...
Wed Feb 08, 2017 08:02
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Gene Expression in a Neurodevelopmental Disorder
 
Global and Local Connectivity Differences Converge With Gene Expression in a Neurodevelopmental Disorder of Known Genetic Origin: <span class="paragraphSection"><div class="boxTitle">Abstract</div>Knowledge of genetic cause in neurodevelopmental disorders can highlight molecular and...
Wed Feb 08, 2017 06:47
OtorhinolaryngologySfakianakis
Enhanced critical-size calvarial bone healing by ASCs engineered with Cre/loxP-based hybrid baculovirus
 
Publication date: April 2017Source:Biomaterials, Volume 124 Author(s): Shih-Chun Lo, Kuei-Chang Li, Yu-Han Chang, Mu-Nung Hsu, Li-Yu Sung, Truong Anh Vu, Yu-Chen Hu Calvarial bone repair remains challenging for adults. Although adipose-derived stem cells (ASCs) hold promise to heal bone defects,...
Wed Feb 08, 2017 06:26
OtorhinolaryngologySfakianakis
Evaluation of a Two-Year Routine Application of Molecular Testing of Thyroid Fine-Needle Aspirations Using a Seven-Gene Panel in a Primary Referral Setting in Germany
 
Thyroid , Vol. 0, No. 0.http://ift.tt/2kkdwh6
Wed Feb 08, 2017 05:43
OtorhinolaryngologySfakianakis
Baicalein enhances the osteogenic differentiation of human periodontal ligament cells by activating the Wnt/β-cateninsignaling pathway
 
Publication date: Available online 7 February 2017Source:Archives of Oral Biology Author(s): Li-Jiao Chen, Bi-Bo Hu, Xin-Lian Shi, Man-Man Ren, Wen-Bin Yu, Sheng-Dan Cen, Rong-Dang Hu, Hui Deng ObjectivePeriodontium regeneration is one of the most important processes for periodontitis therapy. Human...
Wed Feb 08, 2017 05:42
OtoRhinoLaryngology by Sfakianakis G.Alexandros
Baicalein enhances the osteogenic differentiation of human periodontal ligament cells by activating the Wnt/β-cateninsignaling pathway
 
Publication date: Available online 7 February 2017Source:Archives of Oral Biology Author(s): Li-Jiao Chen, Bi-Bo Hu, Xin-Lian Shi, Man-Man Ren, Wen-Bin Yu, Sheng-Dan Cen, Rong-Dang Hu, Hui Deng ObjectivePeriodontium regeneration is one of the most important processes for periodontitis therapy. Human...
Wed Feb 08, 2017 05:40
OtorhinolaryngologySfakianakis
Expression of metallothionein in dimethylhydrazine-induced colonic precancerous and cancerous model in rat
 
Pamela Christudoss, Geeta Chacko, Ratnasamy Selvakumar, Jude Joseph Fleming, Srinivasan Pugazhendhi, George Mathew Journal of Cancer Research and Therapeutics 2016 12(4):1307-1312 Aim: Metallothionein (MT) is a small protein with a high affinity for divalent heavy metals and has a function in zinc...
Wed Feb 08, 2017 05:38
OtorhinolaryngologySfakianakis
Enhanced cytotoxic activity of endophytic bacterial extracts from Adhatoda beddomei leaves in A549 lung cancer cell lines
 
Y Swarnalatha, Bhaswti Saha Journal of Cancer Research and Therapeutics 2016 12(4):1284-1290 Aim of the Study: The current study is aimed to isolate and study the efficacy of the anticancer activity of endophytic bacteria from adhatoda beddomei leaves. Endophytic bacteria, microorganisms can found...
Wed Feb 08, 2017 05:37
OtorhinolaryngologySfakianakis
Evaluation of hypoxia inducible factor-1 alpha gene expression in colorectal cancer stages of Iranian patients
 
Reyhaneh Nassiri Mansour, Seyed Ehsan Enderami, Abdolreza Ardeshirylajimi, Koorosh Fooladsaz, Mojtaba Fathi, Shahla Moahammad Ganji Journal of Cancer Research and Therapeutics 2016 12(4):1313-1317 Aim of Study: Colorectal cancer (CRC) is the fourth most prevalent cancer globally. Several factors have...
Wed Feb 08, 2017 05:37
OtorhinolaryngologySfakianakis
Evaluating the effects of ellagic acid on pSTAT3, pAKT, and pERK1/2 signaling pathways in prostate cancer PC3 cells
 
Elaheh Eskandari, Esfandiar Heidarian, Sayed Asadollah Amini, Javad Saffari-Chaleshtori Journal of Cancer Research and Therapeutics 2016 12(4):1266-1271 Objective: One of the most common malignancies among men is prostate cancer. Ellagic acid (EA), a polyphenol antioxidant, has many pharmacological...
Wed Feb 08, 2017 05:36
OtorhinolaryngologySfakianakis
Modified mismatch polymerase chain reaction-restriction fragment length polymorphism detected mutations in codon 12 and 13 of exon 2 of K-ras gene in colorectal cancer patients and its association with liver metastases: Data from a South Asian country
 
Fathima Dhilhani Mohamed Faleel, M. I. M. De Zoysa, M. D. S. Lokuhetti, Y. I. N. S. Gunawardena, Vishvanath Naduviladath Chandrasekharan, Ranil Samantha Dassanayake Journal of Cancer Research and Therapeutics 2016 12(4):1272-1277 Aim: Mutations in K-ras codon 12 and 13 of exon 2 are known to affect...
Wed Feb 08, 2017 05:21
OtoRhinoLaryngology - Alexandros G. Sfakianakis
TRBP maintains mammalian embryonic neural stem cell properties by enhancing the Notch signaling pathway as a novel transcriptional coactivator [RESEARCH REPORT]
 
Sung-Hyun Byun, Juwan Kim, Dasol Han, Mookwang Kwon, Jae Youl Cho, Hui Xuan Ng, Samuel J. Pleasure, and Keejung YoonTransactivation response element RNA-binding protein (TRBP) is known to play important roles in human immunodeficiency virus (HIV) replication and microRNA biogenesis. However, recent studies...
Wed Feb 08, 2017 05:21
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Efficient TALEN-mediated gene targeting of chicken primordial germ cells [TECHNIQUES AND RESOURCES ARTICLE]
 
Lorna Taylor, Daniel F. Carlson, Sunil Nandi, Adrian Sherman, Scott C. Fahrenkrug, and Michael J. McGrewIn this work we use TALE nucleases (TALENs) to target a reporter construct to the DDX4 (vasa) locus in chicken primordial germ cells. Vasa is a key germ cell determinant in many animal species and...
Wed Feb 08, 2017 05:21
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Functional characterisation of cis-regulatory elements governing dynamic Eomes expression in the early mouse embryo [RESEARCH ARTICLE]
 
Claire S. Simon, Damien J. Downes, Matthew E. Gosden, Jelena Telenius, Douglas R. Higgs, Jim R. Hughes, Ita Costello, Elizabeth K. Bikoff, and Elizabeth J. RobertsonThe T-box transcription factor (TF) Eomes is a key regulator of cell fate decisions during early mouse development. The cis-acting regulatory...
Wed Feb 08, 2017 04:40
OtorhinolaryngologySfakianakis
Different responses of transgenic Bt rice and conventional rice to elevated ozone concentration
 
Abstract To assess the different sensitivity to ozone (O3) between transgenic Bt Shanyou63 (Bt-SY63) and its nontransgenic counterpart Shanyou63 (SY63), the leaf gas exchange, yield, grain elements, and antioxidant enzymes were investigated by performing a pot experiment under ambient O3 concentration...
Wed Feb 08, 2017 01:52
OtorhinolaryngologySfakianakis
Spontaneous Activation of Antigen-presenting Cells by Genes Encoding Truncated Homo-Oligomerizing Derivatives of CD40
 
The interaction between the CD40 receptor on antigen-presenting cells (APCs) and its trimeric ligand on CD4 T cells is essential for the initiation and progression of the adaptive immune response. Here we undertook to endow CD40 with the capacity to trigger spontaneous APC activation through ligand-independent...
Tue Feb 07, 2017 23:40
OtorhinolaryngologySfakianakis
Stepwise CaSR , AP2S1 , and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia
 
Abstract Purpose Patients with familial hyperparathyroidism and low urinary calcium excretion may have familial hypocalciuric hypercalcemia (FHH) with mutations in one of three genes: the calcium-sensing receptor (CaSR) defining FHH-type 1, the adaptor-related protein complex 2 (AP2S1) related to FHH-type...




Alexandros Sfakianakis
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
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