Tutto DSpace

Sfoglia per Soggetto "genetic variability"

Items 21-40 di 100

    • Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis 

      Tzetis, M.; Kaliakatsos, M.; Fotoulaki, B.; Papatheodorou, A.; Doudounakis, S.; Tsezou, A.; Makrythanasis, P.; Kanavakis, E.; Nousia-arvanitakis, S. (2007)
      Acute recurrent/chronic pancreatitis (CP) is a complex multigenic disease. This is a case-control study consisting of 25 Greek patients with CP and a control population of 236 healthy Greek subjects. The whole coding area ...

    • CYP1A2 rs762551 and ADORA2A rs5760423 Polymorphisms in Patients with Blepharospasm 

      Siokas V., Kardaras D., Aloizou A.-M., Liampas I., Papageorgiou E., Drakoulis N., Tsatsakis A., Mitsias P.D., Hadjigeorgiou G.M., Tsironi E.E., Dardiotis E. (2020)
      Blepharospasm (BSP) is a neurological movement disorder. Coffee consumption has been found to have a protective effect against BSP. BSP and apraxia of eyelid opening are particularly common among patients with PD. The ...

    • Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations 

      Boer C.G., Hatzikotoulas K., Southam L., Stefánsdóttir L., Zhang Y., Coutinho de Almeida R., Wu T.T., Zheng J., Hartley A., Teder-Laving M., Skogholt A.H., Terao C., Zengini E., Alexiadis G., Barysenka A., Bjornsdottir G., Gabrielsen M.E., Gilly A., Ingvarsson T., Johnsen M.B., Jonsson H., Kloppenburg M., Luetge A., Lund S.H., Mägi R., Mangino M., Nelissen R.R.G.H.H., Shivakumar M., Steinberg J., Takuwa H., Thomas L.F., Tuerlings M., Loughlin J., Arden N., Birrell F., Carr A., Deloukas P., Doherty M., McCaskie A.W., Ollier W.E.R., Rai A., Ralston S.H., Spector T.D., Wallis G.A., Martinsen A.E., Willer C., Fors E.A., Mundal I., Hagen K., Nilsen K.B., Lie M.U., Børte S., Brumpton B., Nielsen J.B., Fritsche L.G., Zhou W., Heuch I., Storheim K., Tyrpenou E., Koukakis A., Chytas D., Evangelopoulos D.S., Efstathios C., Pneumaticos S., Nikolaou V.S., Malizos K., Anastasopoulou L., Abecasis G., Baras A., Cantor M., Coppola G., Deubler A., Economides A., Lotta L.A., Overton J.D., Reid J.G., Shuldiner A., Karalis K., Siminovitch K., Beechert C., Forsythe C., Fuller E.D., Gu Z., Lattari M., Lopez A., Schleicher T.D., Padilla M.S., Widom L., Wolf S.E., Pradhan M., Manoochehri K., Bai X., Balasubramanian S., Boutkov B., Eom G., Habegger L., Hawes A., Krasheninina O., Lanche R., Mansfield A.J., Maxwell E.K., Nafde M., O'Keeffe S., Orelus M., Panea R., Polanco T., Rasool A., Salerno W., Staples J.C., Li D., Sharma D., Banerjee I., Bovijn J., Locke A., Verweij N., Haas M., Hindy G., De T., Akbari P., Sosina O., Ferreira M.A.R., Jones M.B., Mighty J., LeBlanc M.G., Mitnaul L.J., Babis G.C., Cheung J.P.Y., Kang J.H., Kraft P., Lietman S.A., Samartzis D., Slagboom P.E., Stefansson K., Thorsteinsdottir U., Tobias J.H., Uitterlinden A.G., Winsvold B., Zwart J.-A., Davey Smith G., Sham P.C., Thorleifsson G., Gaunt T.R., Morris A.P., Valdes A.M., Tsezou A., Cheah K.S.E., Ikegawa S., Hveem K., Esko T., Wilkinson J.M., Meulenbelt I., Lee M.T.M., van Meurs J.B.J., Styrkársdóttir U., Zeggini E., arcOGEN Consortium, HUNT All-In Pain, ARGO Consortium, Regeneron Genetics Center (2021)
      Osteoarthritis affects over 300 million people worldwide. Here, we conduct a genome-wide association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and identify 100 independently associated ...

    • Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another? 

      Germenis A.E., Vatsiou S., Csuka D., Zamanakou M., Farkas H. (2021)
      [No abstract available]

    • Effect of angiotensin-converting enzyme tag single nucleotide polymorphisms on the outcome of patients with traumatic brain injury 

      Dardiotis, E.; Paterakis, K.; Siokas, V.; Tsivgoulis, G.; Dardioti, M.; Grigoriadis, S.; Simeonidou, C.; Komnos, A.; Kapsalaki, E.; Fountas, K.; Hadjigeorgiou, G. M. (2015)
      Background Genetic variants appear to influence, at least to some degree, the extent of brain injury and the clinical outcome of patients who have sustained a traumatic brain injury (TBI). Angiotensin-converting enzyme ...

    • Effects of plant phenolics and grape extracts from Greek varieties of Vitis vinifera on Mitomycin C and topoisomerase I-induced nicking of DNA 

      Stagos, D.; Kazantzoglou, G.; Magiatis, P.; Mitaku, S.; Anagnostopoulos, K.; Kouretas, D. (2005)
      In recent years, a number of reports have shown the anticancer activity of grape extracts and wine against various types of cancer such as breast, lung and gastric cancer. This property is mainly attributed to the plant ...

    • Environmental impacts of genetically modified plants: A review 

      Tsatsakis A.M., Nawaz M.A., Kouretas D., Balias G., Savolainen K., Tutelyan V.A., Golokhvast K.S., Lee J.D., Yang S.H., Chung G. (2017)
      Powerful scientific techniques have caused dramatic expansion of genetically modified crops leading to altered agricultural practices posing direct and indirect environmental implications. Despite the enhanced yield ...

    • European Brown hare (Lepus europaeus) as a source of emerging and re-emerging pathogens of Public Health importance: A review 

      Tsokana C.N., Sokos C., Giannakopoulos A., Birtsas P., Valiakos G., Spyrou V., Athanasiou L.V., Rodi Burriel A., Billinis C. (2020)
      European brown hare (Lepus europaeus, EBH) is probably the most important game animal in Europe throughout its historical distribution. The decline in its populations across its geographic range in Europe have been attributed ...

    • Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years 

      Kekou K., Svingou M., Sofocleous C., Mourtzi N., Nitsa E., Konstantinidis G., Youroukos S., Skiadas K., Katsalouli M., Pons R., Papavasiliou A., Kotsalis C., Pavlou E., Evangeliou A., Katsarou E., Voudris K., Dinopoulos A., Vorgia P., Niotakis G., Diamantopoulos N., Nakou I., Koute V., Vartzelis G., Papadimas G.-K., Papadopoulos C., Tsivgoulis G., Traeger-Synodinos J. (2020)
      Background: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients' quality of life and disease epidemiology. Spinal Muscular ...

    • Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study 

      Wang L., Heckman M.G., Aasly J.O., Annesi G., Bozi M., Chung S.J., Clarke C., Crosiers D., Eckstein G., Garraux G., Hadjigeorgiou G.M., Hattori N., Jeon B., Kim Y.J., Kubo M., Lesage S., Lin J.J., Lynch T., Lichtner P., Mellick G.D., Mok V., Morrison K.E., Quattrone A., Satake W., Silburn P.A., Stefanis L., Stockton J.D., Tan E.K., Toda T., Brice A., Van Broeckhoven C., Uitti R.J., Wirdefeldt K., Wszolek Z., Xiromerisiou G., Maraganore D.M., Gasser T., Krüger R., Farrer M.J., Ross O.A., Sharma M. (2017)
      A recent study MacLeod et al. has shown that an interaction between variants at the LRRK2 and PARK16 loci influences risk of development of Parkinson's disease (PD). Our study examines the proposed interaction between LRRK2 ...

    • Evidence That HFE H63D Variant Is a Potential Disease Modifier in Cluster Headache 

      Papasavva M., Vikelis M., Katsarou M.-S., Siokas V., Dermitzakis E., Papademetriou C., Karakostis K., Lazopoulos G., Dardiotis E., Drakoulis N. (2022)
      Cluster headache (CH) is a primary headache disorder with a complex genetic background. Several studies indicate a potential link between iron homeostasis and the pathophysiology of primary headaches. The HFE gene encodes ...

    • Familial partial lipodystrophy (FPLD): Recent insights 

      Bagias C., Xiarchou A., Bargiota A., Tigas S. (2020)
      Lipodystrophies are a heterogeneous group of congenital or acquired disorders, characterized by partial or generalized loss of adipose tissue. Familial partial lipodystrophy (FPLD) presents with genetic and phenotypic ...

    • FcγRIIa-H131R variant is associated with inferior response in diffuse large B cell lymphoma: A meta-analysis of genetic risk 

      Ziakas P.D., Poulou L.S., Zintzaras E. (2016)
      Purpose: Low-affinity variants FcγRIIIa-V158F and FcγRI-Ia-H131R may alter response to rituximab-based chemotherapy in diffuse large B-cell lymphoma (DLBCL) but available clinical evidence is inconclusive. Our purpose was ...

    • Gene variants of adhesion molecules act as modifiers of disease severity in MS 

      Dardiotis E., Panayiotou E., Provatas A., Christodoulou K., Hadjisavvas A., Antoniades A., Lourbopoulos A., Pantzaris M., Grigoriadis N., Hadjigeorgiou G.M., Kyriakides T. (2017)
      Objective: To assess the potential effect of variants in genes encoding molecules that are implicated in leukocyte trafficking into the CNS on the clinical phenotype of multiple sclerosis (MS). Methods: A total of 389 Greek ...

    • Gene variants of adhesion molecules predispose to MS: A case-control study 

      Dardiotis E., Panayiotou E., Siokas V., Aloizou A.-M., Christodoulou K., Hadjisavvas A., Pantzaris M., Grigoriadis N., Hadjigeorgiou G.M., Kyriakides T. (2019)
      ObjectiveTo examine the effect of variants in genes encoding molecules that are implicated in leukocyte trafficking into the CNS on the development of MS.MethodsA total of 389 Greek MS cases and 336 controls were recruited ...

    • Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis 

      Müller T., Alberts R., De Vries E.M.G., Goode E.C., Jiang X., Sampaziotis F., Rombouts K., Böttcher K., Folseraas T., Weismüller T.J., Mason A.L., Wang W., Alexander G., Alvaro D., Bergquist A., Björkström N.K., Beuers U., Björnsson E., Boberg K.M., Bowlus C.L., Bragazzi M.C., Carbone M., Chazouillères O., Cheung A., Dalekos G., Eaton J., Eksteen B., Ellinghaus D., Färkkilä M., Festen E.A.M., Floreani A., Franceschet I., Gotthardt D.N., Hirschfield G.M., Hoek B.V., Holm K., Hohenester S., Hov J.R., Imhann F., Invernizzi P., Juran B.D., Lenzen H., Lieb W., Liu J.Z., Marschall H.-U., Marzioni M., Melum E., Milkiewicz P., Pares A., Rupp C., Rust C., Sandford R.N., Schramm C., Schreiber S., Schrumpf E., Silverberg M.S., Srivastava B., Sterneck M., Teufel A., Vallier L., Verheij J., Vila A.V., De Vries B., Zachou K., Chapman R.W., Manns M.P., Pinzani M., Rushbrook S.M., Lazaridis K.N., Franke A., Anderson C.A., Karlsen T.H., Ponsioen C.Y., Weersma R.K. (2018)
      Objective Primary sclerosing cholangitis (PSC) is a genetically complex, inflammatory bile duct disease of largely unknown aetiology often leading to liver transplantation or death. Little is known about the genetic ...

    • Genetic diversity and structure of Rhizobium leguminosarum populations associated with clover plants are influenced by local environmental variables 

      Stefan A., Van Cauwenberghe J., Rosu C.M., Stedel C., Labrou N.E., Flemetakis E., Efrose R.C. (2018)
      The identification and conservation of indigenous rhizobia associated with legume plants and their application as biofertilizers is becoming an agricultural worldwide priority. However, little is known about the genetic ...

    • The genetic map of diabetic nephropathy: Evidence from a systematic review and meta-analysis of genetic association studies 

      Tziastoudi M., Stefanidis I., Zintzaras E. (2020)
      Despite the extensive efforts of scientists, the genetic background of diabetic nephropathy (DN) has not yet been clarified. To elucidate the genetic variants that predispose to the development of DN, we conducted a ...

    • Genetic risk factors for essential tremor: A review 

      Siokas V., Aloizou A.-M., Tsouris Z., Liampas I., Aslanidou P., Dastamani M., Brotis A.G., Bogdanos D.P., Hadjigeorgiou G.M., Dardiotis E. (2020)
      Highlights In the current review, we thoroughly reviewed 74 identified articles regarding genes and genetic loci that confer susceptibility to ET. Over 50 genes/genetic loci have been examined for possible association with ...

    • Genetic sharing with cardiovascular disease risk factors and diabetes reveals novel bone mineral density loci 

      Reppe S., Wang Y., Thompson W.K., McEvoy L.K., Schork A.J., Zuber V., LeBlanc M., Bettella F., Mills I.G., Desikan R.S., Djurovic S., Gautvik K.M., Dale A.M., Andreassen O.A., Estrada K., Styrkarsdottir U., Evangelou E., Hsu Y.-H., Duncan E.L., Ntzani E.E., Oei L., Albagha O.M.E., Amin N., Kemp J.P., Koller D.L., Li G., Liu C.-T., Minster R.L., Moayyeri A., Vandenput L., Willner D., Xiao S.-M., Yerges-Armstrong L.M., Zheng H.-F., Alonso N., Eriksson J., Kammerer C.M., Kaptoge S.K., Leo P.J., Thorleifsson G., Wilson S.G., Wilson J.F., Aalto V., Alen M., Aragaki A.K., Aspelund T., Center J.R., Dailiana Z., Duggan D.J., Garcia M., Garcia-Giralt N., Giroux S., Hallmans G., Hocking L.J., Husted L.B., Jameson K.A., Khusainova R., Kim G.S., Kooperberg C., Koromila T., Kruk M., Laaksonen M., Lacroix A.Z., Lee S.H., Leung P.C., Lewis J.R., Masi L., Mencej-Bedrac S., Nguyen T.V., Nogues X., Patel M.S., Prezelj J., Rose L.M., Scollen S., Siggeirsdottir K., Smith A.V., Svensson O., Trompet S., Trummer O., Van Schoor N.M., Woo J., Zhu K., Balcells S., Brandi M.L., Buckley B.M., Cheng S., Christiansen C., Cooper C., Dedoussis G., Ford I., Frost M., Goltzman D., González-Macías J., Kähönen M., Karlsson M., Khusnutdinova E., Koh J.-M., Kollia P., Langdahl B.L., Leslie W.D., Lips P., Ljunggren Ö., Lorenc R.S., Marc J., Mellström D., Obermayer-Pietsch B., Olmos J.M., Pettersson-Kymmer U., Reid D.M., Riancho J.A., Ridker P.M., Rousseau F., Slagboom P.E., Tang N.L.S., Urreizti R., Van Hul W., Viikari J., Zarrabeitia M.T., Aulchenko Y.S., Castano-Betancourt M., Grundberg E., Herrera L., Ingvarsson T., Johannsdottir H., Kwan T., Li R., Luben R., Medina-Gómez C., Palsson S.Th., Rotter J.I., Sigurdsson G., Van Meurs J.B.J., Verlaan D., Williams F.M.K., Wood A.R., Zhou Y., Pastinen T., Raychaudhuri S., Cauley J.A., Chasman D.I., Clark G.R., Cummings S.R., Danoy P., Dennison E.M., Eastell R., Eisman J.A., Gudnason V., Hofman A., Jackson R.D., Jones G., Jukema J.W., Khaw K.-T., Lehtimäki T., Liu Y., Lorentzon M., McCloskey E., Mitchell B.D., Nandakumar K., Nicholson G.C., Oostra B.A., Peacock M., Pols H.A.P., Prince R.L., Raitakari O., Reid I.R., Robbins J., Sambrook P.N., Sham P.C., Shuldiner A.R., Tylavsky F.A., Van Duijn C.M., Wareham N.J., Cupples L.A., Econs M.J., Evans D.M., Harris T.B., Kung A.W.C., Psaty B.M., Reeve J., Spector T.D., Streeten E.A., Zillikens M.C., Thorsteinsdottir U., Ohlsson C., Karasik D., Richards J.B., Brown M.A., Stefansson K., Uitterlinden A.G., Ralston S.H., Ioannidis J.P.A., Kiel D.P., Rivadeneira F., GEFOS Consortium (2015)
      Bone Mineral Density (BMD) is a highly heritable trait, but genome-wide association studies have identified few genetic risk factors. Epidemiological studies suggest associations between BMD and several traits and diseases, ...