Results 81 to 90 of about 103,359 (288)

Pre‐analytical optimization of cell‐free DNA and extracellular vesicle‐derived DNA for mutation detection in liquid biopsies

Molecular Oncology, EarlyView.
Pre‐analytical handling critically determines liquid biopsy performance. This study defines practical best‐practice conditions for cell‐free DNA (cfDNA) and extracellular vesicle–derived DNA (evDNA), showing how processing time, storage conditions, tube type, and plasma input volume affect DNA integrity and mutation detection.
Jonas Dohmen, Lucrezia De Santis, Bret M. Stephens, Vincent Bernard, Jörg C. Kalff, Lara Braun, Phillipp Leyendecker, Johannes Röttgen, Daniel Weissinger, Anirban Maitra, Paola A. Guerrero, Alexander Semaan   +11 more
wiley   +1 more source

Familial Aggregation of High Tumor Necrosis Factor Alpha Levels in Systemic Lupus Erythematosus

Clinical and Developmental Immunology, 2013
Systemic lupus erythematosus (SLE) patients frequently have high circulating tumor necrosis factor alpha (TNF-α) levels. We explored circulating TNF-α levels in SLE families to determine whether high levels of TNF-α were clustered in a heritable pattern.
Dorothy Mangale, Silvia N. Kariuki, Beverly S. Chrabot, Marissa Kumabe, Jennifer A. Kelly, John B. Harley, Judith A. James, Kathy L. Sivils, Timothy B. Niewold   +8 more
doaj   +1 more source

Neurocognitive profile in Indian individuals genetically at risk of schizophrenia

Indian Journal of Psychological Medicine, 2020
Background: Cognitive deficits have been noted in patients of schizophrenia in remission, as well as in first-degree relatives. This study aims to evaluate the neurocognitive performance in unaffected first-degree relatives of patients of schizophrenia ...
Sunny Chattopadhyay, Nanasaheb M Patil, Raghavendra B Nayak, Sameeran S Chate, Om P Singh   +4 more
doaj   +1 more source

Computing Individual Risks based on Family History in Genetic Disease in the Presence of Competing Risks [PDF]

, 2017
When considering a genetic disease with variable age at onset (ex: diabetes , familial amyloid neuropathy, cancers, etc.), computing the individual risk of the disease based on family history (FH) is of critical interest both for clinicians and patients.
Bouaziz, O, Lefebvre, Antoine, Nuel, G
core   +3 more sources

Keratin 19 as a prognostic marker and contributing factor of metastasis and chemoresistance in high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Keratin 19 (KRT19) is overexpressed in high‐grade serous ovarian cancer with high levels of Kallikrein‐related peptidases (KLK) 4–7 and is associated with poor survival. In vivo analyses demonstrate that elevated KRT19 increases peritoneal tumour burden.
Sophia Bielesch, Isabel Vogel, Sina Nokodian, Johanna Moeller, Antonia Blechschmidt, Vicky Hecht, Vanessa Kuentzel, Katharina Thiedig, Melissa Schwab, Oliver Schilling, Holger Bronger, Marion Kiechle, Viktor Magdolen, Tobias Dreyer   +13 more
wiley   +1 more source

Distinct Associations of Motor Domains in Relatives of Schizophrenia Patients—Different Pathways to Motor Abnormalities in Schizophrenia?

Frontiers in Psychiatry, 2018
IntroductionAberrant motor function is an integral part of schizophrenia. In fact, abnormalities are frequently found in patients, in populations at risk, and in unaffected relatives.
Lea Schäppi, Katharina Stegmayer, Petra V. Viher, Sebastian Walther   +3 more
doaj   +1 more source

Association between neurological soft signs, temperament and character in patients with schizophrenia and non-psychotic relatives [PDF]

PeerJ, 2016
The heritability of schizophrenia and most personality traits has been well established, but the role of personality in susceptibility to schizophrenia remains uncertain. The aim of this study was to test for an association between personality traits and
Liliana Galindo, Francisco Pastoriza, Daniel Bergé, Anna Mané, Marisol Picado, Antonio Bulbena, Patricia Robledo, Victor Pérez, Oscar Vilarroya, Claude Robert Cloninger   +9 more
doaj   +2 more sources

Dual PI3K/AKT and CDK4/6 inhibition reveals selective sensitivity in an SHH medulloblastoma stem cell model

Molecular Oncology, EarlyView.
Targeted therapy was evaluated in SHH medulloblastoma using neuroepithelial stem cell (NES) and tumor‐derived NES‐like (tNES) models in 2D monolayers and 3D spheroids. PI3K, AKT, and CDK4/6 inhibitors had minimal effects in NES but markedly reduced viability and growth and induced apoptosis in tNES cells, revealing distinct therapeutic vulnerabilities.
Monika Lukoseviciute, Madeleine Birgersson, Paolo Ceriani, Margareta Wilhelm, Ourania N Kostopoulou   +4 more
wiley   +1 more source

Parkinsonian motor impairment predicts personality domains related to genetic risk and treatment outcomes in schizophrenia [PDF]

, 2017
Identifying endophenotypes of schizophrenia is of critical importance and has profound implications on clinical practice. Here we propose an innovative approach to clarify the mechanims through which temperament and character deviance relates to risk for
Alemán, Gabriela González, Balda, Mara, Bourdieu, Mercedes, Calvó, María, Cloninger, C. Robert, Conesa, Horacio A, de Erausquin, Gabriel A, Escobar, Javier I, Florenzano, Néstor V, Guerrero, Gonzalo, Kamis, Danielle, Molina, Juan L, Padilla, Eduardo, Rangeon, Beatriz Molina, Strejilevich, Sergio A, Zwir, Igor   +15 more
core   +2 more sources

Neuropsychological impairments in people with schizophrenia or bipolar disorder and their unaffected relatives [PDF]

British Journal of Psychiatry, 2005
BackgroundNeuropsychological abnormalities in schizophrenia are well replicated and are present in unaffected relatives. Cognitive findings in bipolar disorder are less clearly established.AimsTo examine the possibility that these abnormalities may provide a means by which the disorders might be separated and to clarify the associations of phenotypic ...
Andrew M, McIntosh, Lesley K, Harrison, Karen, Forrester, Stephen M, Lawrie, Eve C, Johnstone   +4 more
openaire   +2 more sources