Πλοήγηση ανά Θέμα "Mutation"

Acro-osteolysis

Botou A., Bangeas A., Alexiou I., Sakkas L.I. (2017)

Acro-osteolysis is an osteolysis of the distal phalanges of the hands and feet and can affect the terminal tuft or the shaft of the distal phalanx (transverse or band acro-osteolysis). It is often associated with distal ...

Activation of FADD-Dependent neuronal death pathways as a predictor of pathogenicity for LRRK2 mutations

Melachroinou K., Leandrou E., Valkimadi P.-E., Memou A., Hadjigeorgiou G., Stefanis L., Rideout H.J. (2016)

Background Despite the plethora of sequence variants in LRRK2, only a few clearly segregate with PD. Even within this group of pathogenic mutations, the phenotypic profile can differ widely. Objective We examined multiple ...

Autoinflammatory syndromes with coexisting variants in Mediterranean FeVer and other genes: Utility of multiple gene screening and the possible impact of gene dosage

Karamanakos A., Tektonidou M., Vougiouka O., Gerodimos C., Katsiari C., Pikazis D., Settas L., Tsitsami E., Speletas M., Sfikakis P., Germenis A., Laskari K. (2022)

Objective: To assess the possible impact conferred by co-existing variants in MEditerranean FeVer (MEFV) and other genes on systemic autoinflammatory disease (SAID) phenotype. Methods: Consecutive patients (n = 42) who ...

B Cells and COVID-19: Lessons From Patients With Agammaglobulinemia and the Study of Functional B-Cell Polymorphisms

Speletas M., Raftopoulou S., Farmaki E., Gatselis N., Germanidis G., Mouchtouri V.Α., Hatzianastasiou S., Georgiadou S., Tsinti G., Tsachouridou O., Tseroni M., Metallidis S., Dalekos G., Eibel H., Hadjichristodoulou C. (2022)

[No abstract available]

A BAFF Receptor His159Tyr Mutation in Sjögren’s Syndrome-Related Lymphoproliferation

Papageorgiou A., Mavragani C.P., Nezos A., Zintzaras E., Quartuccio L., De Vita S., Koutsilieris M., Tzioufas A.G., Moutsopoulos H.M., Voulgarelis M. (2015)

Objective. To study the prevalence, clinical associations, and functional implications of the His159Tyr mutation of the BAFF receptor (BAFF-R) in patients with Sjögren’s syndrome (SS). Methods. The BAFF-R His159Tyr mutation ...

CADASIL in Greece: Mutational spectrum and clinical characteristics based on a systematic review and pooled analysis of published cases

Paraskevas G.P., Stefanou M.I., Constantinides V.C., Bakola E., Chondrogianni M., Giannopoulos S., Kararizou E., Boufidou F., Zompola C., Tsantzali I., Theodorou A., Palaiodimou L., Vikelis M., Lachanis S., Papathanasiou M., Bakirtzis C., Koutroulou I., Karapanayiotides T., Xiromerisiou G., Kapaki E., Tsivgoulis G. (2022)

Background: Differences have been noted in the clinical presentation and mutational spectrum of CADASIL among various geographical areas. The aim of the present study was to investigate the mode of clinical presentation ...

Cell migration leads to spatially distinct but clonally related airway cancer precursors

Pipinikas, C. P.; Kiropoulos, T. S.; Teixeira, V. H.; Brown, J. M.; Varanou, A.; Falzon, M.; Capitanio, A.; Bottoms, S. E.; Carrol, B.; Navani, N.; McCaughan, F.; George, J. P.; Giangreco, A.; Wright, N. A.; McDonald, S. A. C.; Graham, T. A.; Janes, S. M. (2014)

Background Squamous cell carcinoma of the lung is a common cancer with 95% mortality at 5 years. These cancers arise from preinvasive lesions, which have a natural history of development progressing through increasing ...

Clinical phenotype in patients with α-synuclein Parkinson's disease living in Greece in comparison with patients with sporadic Parkinson's disease

Papapetropoulos, S.; Paschalis, C.; Athanassiadou, A.; Papadimitriou, A.; Ellul, J.; Polymeropoulos, M. H.; Papapetropoulos, Th (2001)

Objective - An Ala53Thr mutation of the α-synuclein gene has been recently identified as a rare cause of autosomal Parkinson's disease (PD). The clinical characteristics of 15 patients with PD living in Greece with the ...

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 ...

The current role of surgery in the treatment of cardiac metastases from malignant melanoma: An educational presentation

Spiliopoulos K., Engels P., Kimpouri K., Floudas I., Salemis N.S., Schmid F.-X. (2021)

A 71 year-old male with a history of multiple excisions of an initial Clark’s level V melanoma of the breast followed by combined radiation and interferon treatment, as well as a recurrence, 3 years later, of a BRAF-positive ...

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]

Detection of mitochondrial transfer RNA (mt-tRNA) gene mutations in patients with idiopathic pulmonary fibrosis and sarcoidosis

Daniil Z., Kotsiou O.S., Grammatikopoulos A., Peletidou S., Gkika H., Malli F., Antoniou K., Vasarmidi E., Mamuris Z., Gourgoulianis K., Zifa E. (2018)

Mitochondrial reactive oxygen species production may lead to tissue injury associated with two respiratory disorders of unknown origin which are shared by common tissue fibrosis, IPF and sarcoidosis. Sequence analysis of ...

Diagnostic value of immunohistochemistry for the detection of the BRAF V600E mutation in colorectal carcinoma

Ioannou M., Papamichali R., Samara M., Paraskeva E., Papacharalambous C., Baxevanidou K., Koukoulis G. (2016)

Purpose: V600E is the most common activating BRAF mutation in colorectal carcinomas (CRCs). It is a crucial biomarker for patient selection and response to targeted therapy with BRAF V600E inhibitors. Previous studies using ...

Dual IRE1 RNase functions dictate glioblastoma development

Lhomond S., Avril T., Dejeans N., Voutetakis K., Doultsinos D., McMahon M., Pineau R., Obacz J., Papadodima O., Jouan F., Bourien H., Logotheti M., Jégou G., Pallares-Lupon N., Schmit K., Le Reste P.-J., Etcheverry A., Mosser J., Barroso K., Vauléon E., Maurel M., Samali A., Patterson J.B., Pluquet O., Hetz C., Quillien V., Chatziioannou A., Chevet E. (2018)

Proteostasis imbalance is emerging as a major hallmark of cancer, driving tumor aggressiveness. Evidence suggests that the endoplasmic reticulum (ER), a major site for protein folding and quality control, plays a critical ...

Editorial for special issue “genetic basis and epidemiology of myopathies”

Peristeri E., Dardiotis E. (2021)

We are pleased to announce a Special Issue on the Genetic Basis and Epidemiology of Myopathies. This Special Issue is collecting papers pertaining to various lines of research focusing on the genetic basis and the epidemiology ...

Effects of TP53 and PIK3CA mutations in early breast cancer: a matter of co-mutation and tumor-infiltrating lymphocytes

Kotoula V., Karavasilis V., Zagouri F., Kouvatseas G., Giannoulatou E., Gogas H., Lakis S., Pentheroudakis G., Bobos M., Papadopoulou K., Tsolaki E., Pectasides D., Lazaridis G., Koutras A., Aravantinos G., Christodoulou C., Papakostas P., Markopoulos C., Zografos G., Papandreou C., Fountzilas G. (2016)

The purpose of this study is to investigate whether the outcome of breast cancer (BC) patients treated with adjuvant chemotherapy is affected by co-mutated TP53 and PIK3CA according to stromal tumor-infiltrating lymphocytes ...