Results 71 to 80 of about 704,012 (340)

Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients [PDF]

, 2019
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes.
Boarini, Manila, Celli, Mauro, Corsini, Serena, D'Eufemia, Patrizia, Gnoli, Maria, Maioli, Margherita, Mordenti, Marina, Pedrini, Elena, Sangiorgi, Luca, Tremosini, Morena, Versacci, Paolo, Zambrano, Anna   +11 more
core   +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

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

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

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

ACTA2 leukovasculopathy: A rare pediatric white matter disorder

Radiology Case Reports, 2020
A 3-year-old girl presented with ataxia, dilated pupils, and behavioral change prompting work up for stroke. Her medical history included chronic mydriasis and patent ductus arteriosus requiring aortoplasty.
Tonia M. Sabo, MD, Mathew A. Stokes, MD, Nishika Karbhari, MD, Daniel L. Veltkamp, MD, Cory M. Pfeifer, MD, MPH   +4 more
doaj   +1 more source

Regulating repression : roles for the Sir4 N-terminus in linker DNA protection and stabilization of epigenetic states [PDF]

, 2012
The Gasser laboratory is supported by the Novartis Research Foundation and the EU training network Nucleosome 4D. SK was supported by an EMBO long-term fellowship, a Schrodinger fellowship from the FWF, and the Swiss SystemsX.ch initiative/C-CINA; HCF by
Ferreira, Helder C., Gasser, Susan M., Kueng, Stephanie, Oppikofer, Mariano, Roberts, Emma, Roloff, Tim-Christoph, Sack, Ragna, Tsai, Chinyen, Tsai-Pflugfelder, Monika   +8 more
core   +4 more sources

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