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Parcourir par sujet "whole exome sequencing"

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    • Aspects of hereditary angioedema genotyping in the era of NGS: The case of F12 gene [Wybrane aspekty genotypowania wrodzonego obrzȩku naczynioruchowego w erze NGS: Gen F12] 

      Vatsiou S., Zamanakou M., Loules G., González-Quevedo T., Porȩbski G., Juchacz A., Bova M., Suffritti C., Firinu D., Csuka D., Manousakis E., Valerieva A., Staevska M., Magerl M., Farkas H., Germenis A.E. (2018)
      Objective. To screen a cohort of patients diagnosed with non-FXII angioedema for carriage of variants of F12 gene. Material and methods. DNA samples from 191 patients suffering from primary angioedema with normal C1-INH, ...

    • BAFF receptor polymorphisms and deficiency in humans 

      Sevdali E., Block Saldana V., Speletas M., Eibel H. (2021)
      The BAFF-receptor (BAFFR) is a member of the TNF-receptor family. It is expressed only by B cells and binds BAFF as single ligand, which activates key signaling pathways regulating essential cellular functions, including ...

    • 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]

    • Genetics of COVID-19 and myalgic encephalomyelitis/chronic fatigue syndrome: a systematic review 

      Tziastoudi M., Cholevas C., Stefanidis I., Theoharides T.C. (2022)
      COVID-19 and ME/CFS present with some similar symptoms, especially physical and mental fatigue. In order to understand the basis of these similarities and the possibility of underlying common genetic components, we performed ...

    • The greek variant in app gene: The phenotypic spectrum of app mutations 

      Kalampokini S., Georgouli D., Patrikiou E., Provatas A., Valotassiou V., Georgoulias P., Spanaki C., Hadjigeorgiou G.M., Xiromerisiou G. (2021)
      Mutations in the gene encoding amyloid precursor protein (APP) cause autosomal dominant inherited Alzheimer’s disease (AD). We present a case of a 68-year-old female who presented with epileptic seizures, neuropsychiatric ...

    • Hereditary cerebral amyloid angiopathy mimicking CADASIL syndrome 

      Psychogios K., Xiromerisiou G., Kargiotis O., Safouris A., Fiolaki A., Bonakis A., Paraskevas G.P., Giannopoulos S., Tsivgoulis G. (2021)
      Background: Small vessel disease (SVD), and most specifically hereditary forms like CADASIL and cerebral amyloid angiopathy (hCAA), are conditions of increasing clinical importance. We report a rare case of hCAA in a Greek ...

    • Hypoxia-Inducible Factor-2-Altered Urothelial Carcinoma: Clinical and Genomic Features 

      Vlachostergios P.J., Tamposis I.A., Anagnostou M., Papathanassiou M., Mitrakas L., Zachos I., Thodou E., Samara M., Tzortzis V. (2022)
      Background: Hypoxia is recognized as a key feature of cancer growth and is involved in various cellular processes, including proliferation, angiogenesis, and immune surveillance. Besides hypoxia-inducible factor 1-alpha ...

    • Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases 

      Marogianni C., Georgouli D., Dadouli K., Ntellas P., Rikos D., Hadjigeorgiou G.M., Spanaki C., Xiromerisiou G. (2021)
      Mutations in Lysine-Specific Histone Methyltransferase 2B gene (KMT2B) have been reported to be associated with isolated and complex early-onset generalized dystonia. We describe clinico-genetic features on a Greek patient ...

    • A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum 

      Mentis A.-F.A., Vlachakis D., Papakonstantinou E., Zaganas I., Patrinos G.P., Chrousos G.P., Dardiotis E. (2022)
      Amyotrophic lateral sclerosis (ALS) belongs to the ALS-frontotemporal dementia (FTD) spectrum and is hallmarked by upper and lower motor neuron degeneration. Here, we present a patient with a cytoplasmic dynein 1 heavy ...

    • Somatic evolution and global expansion of an ancient transmissible cancer lineage 

      Baez-Ortega A., Gori K., Strakova A., Allen J.L., Allum K.M., Bansse-Issa L., Bhutia T.N., Bisson J.L., Briceño C., Domracheva A.C., Corrigan A.M., Cran H.R., Crawford J.T., Davis E., De Castro K.F., De Nardi A.B., De Vos A.P., Keenan L.D., Donelan E.M., Espinoza Huerta A.R., Faramade I.A., Fazil M., Fotopoulou E., Fruean S.N., Gallardo-Arrieta F., Glebova O., Gouletsou P.G., Häfelin Manrique R.F., Henriques J.J.G.P., Horta R.S., Ignatenko N., Kane Y., King C., Koenig D., Krupa A., Kruzeniski S.J., Kwon Y.-M., Lanza-Perea M., Lazyan M., Lopez Quintana A.M., Losfelt T., Marino G., Castañeda S.M., Martínez-López M.F., Meyer M., Migneco E.J., Nakanwagi B., Neal K.B., Neunzig W., Leathlobhair M.N., Nixon S.J., Ortega-Pacheco A., Pedraza-Ordoñez F., Peleteiro M.C., Polak K., Pye R.J., Reece J.F., Gutierrez J.R., Sadia H., Schmeling S.K., Shamanova O., Sherlock A.G., Stammnitz M., Steenland-Smit A.E., Svitich A., Tapia Martínez L.J., Ngoka I.T., Torres C.G., Tudor E.M., Van Der Wel M.G., Viţălaru B.A., Vural S.A., Walkinton O., Wang J., Wehrle-Martinez A.S., Widdowson S.A.E., Stratton M.R., Alexandrov L.B., Martincorena I., Murchison E.P. (2019)
      The canine transmissible venereal tumor (CTVT) is a cancer lineage that arose several millennia ago and survives by “metastasizing” between hosts through cell transfer. The somatic mutations in this cancer record its ...

    • SORL1 mutation in a Greek family with Parkinson's disease and dementia 

      Xiromerisiou G., Bourinaris T., Houlden H., Lewis P.A., Senkevich K., Hammer M., Federoff M., Khan A., Spanaki C., Hadjigeorgiou G.M., Bonstanjopoulou S., Fidani L., Ermolaev A., Gan-Or Z., Singleton A., Vandrovcova J., Hardy J. (2021)
      Whole exome sequencing and linkage analysis were performed in a three generational pedigree of Greek origin with a broad phenotypic spectrum spanning from Parkinson’s disease and Parkinson’s disease dementia to dementia ...