Results 31 to 40 of about 1,019,366 (314)

Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed.
Molly Mack, A. Carolina Tufino, Mohd Azrin Jamalruddin, Sreya Dey, Yinghong Pan, Elina Mukherjee, Jessica D. Daley, Julia Meade, Mahmoud Aarabi, Lisa Maurer, James Cooper, Kara A. Bernstein, Kelly M. Bailey   +12 more
wiley   +1 more source

Constitutive activation of DIA1 (DIAPH1) via C‐terminal truncation causes human sensorineural hearing loss

EMBO Molecular Medicine, 2016
DIAPH1 encodes human DIA1, a formin protein that elongates unbranched actin. The c.3634+1G>T DIAPH1 mutation causes autosomal dominant nonsyndromic sensorineural hearing loss, DFNA1, characterized by progressive deafness starting in childhood.
Takehiko Ueyama, Yuzuru Ninoyu, Shin‐ya Nishio, Takushi Miyoshi, Hiroko Torii, Koji Nishimura, Kazuma Sugahara, Hideaki Sakata, Dean Thumkeo, Hirofumi Sakaguchi, Naoki Watanabe, Shin‐ichi Usami, Naoaki Saito, Shin‐ichiro Kitajiri   +13 more
doaj   +1 more source

Identification of the Antifungal Metabolite Chaetoglobosin P From Discosia rubi Using a Cryptococcus neoformans Inhibition Assay: Insights Into Mode of Action and Biosynthesis

Frontiers in Microbiology, 2020
Cryptococcus neoformans is an important human pathogen with limited options for treatments. We have interrogated extracts from fungal fermentations to find Cryptococcus-inhibiting natural products using assays for growth inhibition, differential ...
Bruno Perlatti, Connie B. Nichols, Nan Lan, Philipp Wiemann, Colin J. B. Harvey, J. Andrew Alspaugh, Gerald F. Bills   +6 more
doaj   +1 more source

Isolation and identification of a novel toxin in scallop mantle tissue

Frontiers in Marine Science, 2023
Scallops are one of the main marine products of Hokkaido, Japan. In addition to adductor muscle, scallop mantle tissue is often consumed in Japan.
Nabuki Maeda, Fumika Yoshida, Kota Matsumoto, Saki Takahashi, Geng Xiong, Yasushi Hasegawa   +5 more
doaj   +1 more source

Enteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells

FEBS Letters, EarlyView.
Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi, Pilar Samperio Ventayol, Natalie Burkard, Nicolas Schlegel, Carmen Aguilar, Sina Bartfeld   +5 more
wiley   +1 more source

Cross Talk between ARF1 and RhoA Coordinates the Formation of Cytoskeletal Scaffolds during Chlamydia Infection

mBio, 2021
Chlamydia trachomatis is an obligate intracellular bacterium that has developed sophisticated mechanisms to survive inside its infectious compartment, the inclusion. Notably, Chlamydia weaves an extensive network of microtubules (MTs) and actin filaments
Adam Haines, Jordan Wesolowski, Nathan M. Ryan, Tiago Monteiro-Brás, Fabienne Paumet   +4 more
doaj   +1 more source

Spatiotemporal and quantitative analyses of phosphoinositides – fluorescent probe—and mass spectrometry‐based approaches

FEBS Letters, EarlyView.
Fluorescent probes allow dynamic visualization of phosphoinositides in living cells (left), whereas mass spectrometry provides high‐sensitivity, isomer‐resolved quantitation (right). Their synergistic use captures complementary aspects of lipid signaling. This review illustrates how these approaches reveal the spatiotemporal regulation and quantitative
Hiroaki Kajiho, Shin Morioka, Junko Sasaki, Takehiko Sasaki   +3 more
wiley   +1 more source

mDia1 Assembles a Linear F-Actin Coat at Membrane Invaginations To Drive Listeria monocytogenes Cell-to-Cell Spreading

mBio, 2021
Direct cell-to-cell spreading of Listeria monocytogenes requires the bacteria to induce actin-based finger-like membrane protrusions in donor host cells that are endocytosed through caveolin-rich membrane invaginations by adjacent receiving cells.
Aaron S. Dhanda, A. Wayne Vogl, Fern Ness, Metello Innocenti, Julian A. Guttman   +4 more
doaj   +1 more source

A Cre‐dependent lentiviral vector for neuron subtype‐specific expression of large proteins

FEBS Letters, EarlyView.
We designed a versatile and modular lentivector comprising a Cre‐dependent switch and self‐cleaving 2A peptide and tested it for co‐expression of GFP and a 2.8 kb gene of interest (GOI) in mouse cortical parvalbumin (PV+) interneurons and midbrain dopamine (TH+) neurons.
Weixuan Xue, Sandrine Picaud, Régine Hepp, Stéphanie Pons, Uwe Maskos, Bertrand Lambolez, Ludovic Tricoire   +6 more
wiley   +1 more source

Pathogenic Huntingtin aggregates alter actin organization and cellular stiffness resulting in stalled clathrin-mediated endocytosis

eLife
Aggregation of mutant forms of Huntingtin is the underlying feature of neurodegeneration observed in Huntington’s disorder. In addition to neurons, cellular processes in non-neuronal cell types are also shown to be affected.
Surya Bansi Singh, Shatruhan Singh Rajput, Aditya Sharma, Sujal Kataria, Priyanka Dutta, Vaishnavi Ananthanarayanan, Amitabha Nandi, Shivprasad Patil, Amitabha Majumdar, Deepa Subramanyam   +9 more
doaj   +1 more source