Results 61 to 70 of about 3,299,410 (331)

Comparing self‐reported race and genetic ancestry for identifying potential differentially methylated sites in endometrial cancer: insights from African ancestry proportions using machine learning models

Molecular Oncology, EarlyView.
Integrating ancestry, differential methylation analysis, and machine learning, we identified robust epigenetic signature genes (ESGs) and Core‐ESGs in Black and White women with endometrial cancer. Core‐ESGs (namely APOBEC1 and PLEKHG5) methylation levels were significantly associated with survival, with tumors from high African ancestry (THA) showing ...
Huma Asif, J. Julie Kim
wiley   +1 more source

Correction: Mutations in MITF and PAX3 Cause “Splashed White” and Other White Spotting Phenotypes in Horses

PLOS Genetics, 2019
[This corrects the article DOI: 10.1371/journal.pgen.1002653.].
Hauswirth, Regula, Haase, Bianca, Blatter, Marlis, Brooks, Samantha A, Burger, Dominik Cyrill, Drögemüller, Cord, Gerber, Vinzenz, Henke, Diana, Janda, Jozef, Jude, Rony, Magdesian, K Gary, Matthews, Jacqueline M, Poncet, Pierre-André, Svansson, Vilhjálmur, Tozaki, Teruaki, Wilkinson-White, Lorna, Penedo, M Cecilia T, Rieder, Stefan, Leeb, Tosso   +18 more
openaire   +4 more sources

The atypical KRASQ22K mutation directs TGF‐β response towards partial epithelial‐to‐mesenchymal transition in patient‐derived colorectal cancer tumoroids

Molecular Oncology, EarlyView.
TGF‐β has a complex role in cancer, exhibiting both tumor‐suppressive and tumor‐promoting properties. Using a series of differentiated tumoroids, derived from different stages and mutational background of colorectal cancer patients, we replicate this duality of TGF‐β in vitro. Notably, the atypical but highly aggressive KRASQ22K mutation rendered early‐
Theresia Mair, Philip König, Milena Mijović, Jessica Kalla, Anil Baskan, Loan Tran, Kristina Draganić, Pedro Morata Saldaña, Carlos Uziel Pérez Malla, Janette Pfneissl, Andreas Tiefenbacher, Julijan Kabiljo, Velina S. Atanasova, Lisa Wozelka‐Oltjan, Leonhard Müllauer, Michael Bergmann, Raheleh Sheibani‐Tezerji, Gerda Egger   +17 more
wiley   +1 more source

The impact of SLCO1B1 genetic polymorphisms on neonatal hyperbilirubinemia: a systematic review with meta-analysis

Jornal de Pediatria (Versão em Português), 2013
Objective: To determine whether three variants (388 G>A, 521 T>C, and 463 C>A) of the solute carrier organic anion transporter family member 1B1 (SLCO1B1) are associated with neonatal hyperbilirubinemia.
Jiebo Liu, Jun Long, Shaofang Zhang, Xiaoyan Fang, Yuyuan Luo   +4 more
doaj   +1 more source

A New DARS2 Mutation Discovered in an Adult Patient

Case Reports in Neurology, 2020
We report a case of an adult patient suffering from leukoencephalopathy with brainstem and spinal cord involvement and elevated white matter lactate (LBSL) caused by a DARS2 polymorphism.
Rosy N’Gbo N’Gbo Ikazabo, Christian Mostosi, Patrice Jissendi, Marie-Anne Labaisse, Isabelle Vandernoot   +4 more
doaj   +1 more source

Presymptomatic spinal cord pathology in c9orf72 mutation carriers: A longitudinal neuroimaging study

Annals of Neurology, 2019
C9orf72 hexanucleotide repeats expansions account for almost half of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) cases.
G. Querin, P. Bede, M. E. El Mendili, Menghan Li, M. Pélégrini-Issac, D. Rinaldi, M. Catala, D. Saracino, F. Salachas, A. Camuzat, V. Marchand-Pauvert, J. Cohen-Adad, O. Colliot, I. Le Ber, P. Pradat   +14 more
semanticscholar   +1 more source

MAP1B mutations cause intellectual disability and extensive white matter deficit [PDF]

Nature Communications, 2018
AbstractDiscovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Whole-genome sequencing of 31,463 Icelanders uncovers a frameshift variant (E712KfsTer10) in microtubule-associated protein 1B (MAP1B) that associates with ID/low IQ in a large
Gudmundur L. Norddhal, Unnur Unnsteinsdottir, Gudrun A. Jonsdottir, Evald Saemundsen, Magnus I. Magnusson, Gardar Sveinbjornsson, Patrick Sulem, Andres Ingason, Asgeir Sigurdsson, Lina Jonsson, Lina Jonsson, Adalbjorg Jonasdottir, Valgerdur K. Eiriksdottir, Hreinn Stefansson, G. Bragi Walters, G. Bragi Walters, Arni F. Gunnarsson, Stacy Steinberg, Kari Stefansson, Kari Stefansson, Amy L. Lee, Magnus O. Ulfarsson, Magnus O. Ulfarsson, Omar Gustafsson, Askell Love, Daniel F. Gudbjartsson, Daniel F. Gudbjartsson, Muhammad Nawaz, Muhammad Nawaz, Aslaug Jonasdottir, Astros Skuladottir, Mike Frigge, Mark Zervas, Arna B. Agustsdottir   +33 more
openaire   +4 more sources

Targeting the AKT/mTOR pathway attenuates the metastatic potential of colorectal carcinoma circulating tumor cells in a murine xenotransplantation model

Molecular Oncology, EarlyView.
Dual targeting of AKT and mTOR using MK2206 and RAD001 reduces tumor burden in an intracardiac colon cancer circulating tumor cell xenotransplantation model. Analysis of AKT isoform‐specific knockdowns in CTC‐MCC‐41 reveals differentially regulated proteins and phospho‐proteins by liquid chromatography coupled mass spectrometry. Circulating tumor cells
Daniel J. Smit, Thais Pereira‐Veiga, Helena Brauer, Michael Horn, Paula Nissen, Thomas Mair, Bente Siebels, Hannah Voß, Ruimeng Zhuang, Marie‐Therese Haider, Desiree Loreth, Margarita Iskhakova, Bele Lindemann, Julian Kött, Laure Cayrefourcq, Jasmin Wellbrock, Hartmut Schlüter, Klaus Pantel, Catherine Alix‐Panabières, Manfred Jücker   +19 more
wiley   +1 more source

White-matter abnormalities in presymptomaticGRNandC9orf72mutation carriers

Brain Communications, 2022
AbstractA large proportion of familial frontotemporal dementia is caused by TAR DNA-binding protein 43 (transactive response DNA-binding protein 43 kDa) proteinopathies. Accordingly, carriers of autosomal dominant mutations in the genes associated with TAR DNA-binding protein 43 aggregation, such as Chromosome 9 open reading frame 72 (C9orf72) or ...
Hyunwoo Lee, Ian R A Mackenzie, Mirza Faisal Beg, Karteek Popuri, Rosa Rademakers, Dana Wittenberg, Ging-Yuek Robin Hsiung   +6 more
openaire   +3 more sources

Tonic signaling of the B‐cell antigen‐specific receptor is a common functional hallmark in chronic lymphocytic leukemia cell phosphoproteomes at early disease stages

Molecular Oncology, EarlyView.
B‐cell chronic lymphocytic leukemia (B‐CLL) and monoclonal B‐cell lymphocytosis (MBL) show altered proteomes and phosphoproteomes, analyzed using mass spectrometry, protein microarrays, and western blotting. Identifying 2970 proteins and 316 phosphoproteins, including 55 novel phosphopeptides, we reveal BCR and NF‐kβ/STAT3 signaling in disease ...
Paula Díez, Pablo Juanes‐Velasco, Marina L. García‐Vaquero, Conrad Droste, Alicia Landeira‐Viñuela, Miguel Alcoceba, Helena Fidalgo‐Gómez, Sara Misiego‐Herrero, Almudena Navarro‐Bailón, Mónica Baile, José M. Bastida, Jose Manuel Sanchez‐Santos, Rafael Góngora, Julia Almeida, Marcos Gonzalez‐Diaz, Alberto Orfao, Javier De Las Rivas, Manuel Fuentes   +17 more
wiley   +1 more source