Results 51 to 60 of about 83,578 (286)

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. [PDF]

PLoS ONE, 2012
BACKGROUND: Dravet syndrome is a severe form of epilepsy. Majority of patients have a mutation in SCN1A gene, which encodes a voltage-gated sodium channel. A recent study has demonstrated that 16% of SCN1A-negative patients have a mutation in PCDH19, the
Anna Ka-Yee Kwong, Cheuk-Wing Fung, Siu-Yuen Chan, Virginia Chun-Nei Wong   +3 more
doaj   +1 more source

B cell mechanobiology in health and disease: emerging techniques and insights into therapeutic responses

FEBS Letters, EarlyView.
B cells sense external mechanical forces and convert them into biochemical signals through mechanotransduction. Understanding how malignant B cells respond to physical stimuli represents a groundbreaking area of research. This review examines the key mechano‐related molecules and pathways in B lymphocytes, highlights the most relevant techniques to ...
Marta Sampietro, Marco Cellani, Cristina Scielzo   +2 more
wiley   +1 more source

Intron‐oriented HTLV‐1 integration in an adult T‐cell leukemia/lymphoma cell line sustains expression of intact ift81 mRNA

FEBS Letters, EarlyView.
In the adult T‐cell leukemia/lymphoma (ATL) cell line ED, the human T‐cell leukemia virus type 1 (HTLV‐1) provirus was integrated into the intron of the ift81 gene in the antisense orientation. Despite this integration, both the intact ift81 and the viral oncogene hbz were simultaneously expressed, likely due to the functional insufficiency of viral ...
Mayuko Yagi, Yuka Hirosawa, Yusaku Sagisaka, Minami Hama, Satoshi Takeda, Jun A. Komano   +5 more
wiley   +1 more source

Transcriptome‐wide analysis of circRNA and RBP profiles and their molecular relevance for GBM

Molecular Oncology, EarlyView.
CircRNAs are differentially expressed in glioblastoma primary tumors and might serve as therapeutic targets and diagnostic markers. The investigation of circRNA and RNA‐binding proteins (RBPs) interactions shows that distinct RBPs play a role in circRNA biogenesis and function.
Julia Latowska‐Łysiak, Żaneta Zarębska, Marcin P. Sajek, Adriana Grabowska, Alessia Buratin, Paweł Głodowicz, Julia O. Misiorek, Konrad Kuczyński, Stefania Bortoluzzi, Marek Żywicki, Jan G. Kosiński, Agnieszka Rybak‐Wolf, Rafał Piestrzeniewicz, Anna M. Barciszewska, Katarzyna Rolle   +14 more
wiley   +1 more source

Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

Molecular Oncology, EarlyView.
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser, Florian Krumbach, Eyleen Corrales, Geoffroy Andrieux, Christian Preisinger, Franziska Liss, Alexandra Golzmann, Melanie Boerries, Kerstin Becker, Ruth Knüchel, Stefan Garczyk, Bernhard Lüscher   +11 more
wiley   +1 more source

Splice-acceptor site mutation in p53 gene of hu888 zebrafish line [PDF]

Journal of Applied Genetics, 2014
The p53 transcription factor is a key tumor suppressor and a central regulator of the stress response, which has been a subject of intense research for over 30 years. Recently, a zebrafish line which carries splice site mutation (G>T) in intron 8 of p53 gene (p53 (hu888) ), encoding the p53 paralogue, was developed (The Zebrafish Mutation Project).
Slawomir Ciesielski, Maciej Woźny, Paweł Brzuzan, Alicja Piasecka, Dariusz Kaczmarczyk   +4 more
openaire   +3 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

Prenatal diagnosis of familial recessive PIGN mutation associated with multiple anomalies: A case report

Taiwanese Journal of Obstetrics & Gynecology, 2021
Objective: We present a novel homozygous splice site mutation in the PIGN gene identified by whole exome sequencing and explored the genotype–phenotype correlation.
Li Sun, Xiaomei Yang, Yasong Xu, Shiyu Sun, Qichang Wu   +4 more
doaj  

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles [PDF]

Neurology, 2015
To identify the genetic etiology and characterize the clinicopathologic features of a novel distal myopathy.We performed whole-exome sequencing on a family with an autosomal dominant distal myopathy and targeted exome sequencing in 1 patient with sporadic distal myopathy, both with rimmed vacuolar pathology.
Bjarne Udd, Luisa Rojas, Sara K. Pittman, Robert C. Bucelli, Peter Hackman, Anni Evilä, Carolyn M. Sue, Matthew B. Harms, Alan Pestronk, Khalid Arhzaouy, Conrad C. Weihl   +10 more
openaire   +4 more sources

Inhibitor of DNA binding‐1 is a key regulator of cancer cell vasculogenic mimicry

Molecular Oncology, EarlyView.
Elevated expression of transcriptional regulator inhibitor of DNA binding 1 (ID1) promoted cancer cell‐mediated vasculogenic mimicry (VM) through regulation of pro‐angiogenic and pro‐cancerous genes (e.g. VE‐cadherin (CDH5), TIE2, MMP9, DKK1). Higher ID1 expression also increased metastases to the lung and the liver.
Emma J. Thompson, Emma L. Dorward, Kristyn Jurrius, Nathalie Nataren, Markus Tondl, Kay K. Myo Min, Michaelia P. Cockshell, Anahita Fouladzadeh, John Toubia, Mark DeNichilo, Delphine Merino, Claudine S. Bonder   +11 more
wiley   +1 more source