Results 61 to 70 of about 48,752 (282)

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

The Prognostic Power of Gene Expression Profiling with Cytogentics and Routinely Acquired Serum Markers: SKY92 Combined with Revised ISS

Blood, 2020
Background Updating prognostic models for multiple myeloma is important in the context of changing treatment options. Previously we have described the value of the prognostic marker SKY92, which identifies high-risk multiple myeloma patients, as well as the value of the combined SKY92-ISS marker.
Rowan Kuiper, Mark van Duin, Martin H Van Vliet, Erik H Van Beers, Berna Berna Beverloo, Sonja Zweegman, Tom Cupedo, Annemiek Broijl, Pieter Sonneveld   +8 more
openaire   +1 more source

A microbial survey of the International Space Station (ISS) [PDF]

PeerJ, 2017
Background Modern advances in sequencing technology have enabled the census of microbial members of many natural ecosystems. Recently, attention is increasingly being paid to the microbial residents of human-made, built ecosystems, both private (homes ...
Jenna M. Lang, David A. Coil, Russell Y. Neches, Wendy E. Brown, Darlene Cavalier, Mark Severance, Jarrad T. Hampton-Marcell, Jack A. Gilbert, Jonathan A. Eisen   +8 more
doaj   +2 more sources

Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature

Endocrine Connections, 2022
Objective: Most children with short stature remain without an etiologic diagnosis after extensive clinical and laboratory evaluation and are classified as idiopathic short stature (ISS).
Nathalia Liberatoscioli Menezes Andrade, Mariana Ferreira de Assis Funari, Alexsandra Christianne Malaquias, Paulo Ferrez Collett-Solberg, Nathalia L R A Gomes, Renata Scalco, Naiara Castelo Branco Dantas, Raissa C Rezende, Angelica M F P Tiburcio, Micheline A R Souza, Bruna L Freire, Ana C V Krepischi, Carlos Alberto Longui, Antonio Marcondes Lerario, Ivo J P Arnhold, Alexander A L Jorge, Gabriela Andrade Vasques   +16 more
doaj   +1 more source

Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report [PDF]

, 2018
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis ...
Bottillo, I, Han, Y, Lang, Y, Liu, X, Shao, L., Wang, J, Wang, Q, Zhang, R   +7 more
core   +2 more sources

Autophagosome marker, LC3, is released extracellularly via several distinct pathways

FEBS Open Bio, EarlyView.
This study establishes a novel HiBiT‐tagging system for ultrasensitive detection of LC3, revealing multiple pathways for its extracellular secretion. It demonstrates that LC3 is released via both autophagy‐dependent and ‐independent mechanisms, including a novel route for nonlipidated LC3‐I.
Koki Saito, Masashi Arakawa, Koki Maeda, Eiji Morita   +3 more
wiley   +1 more source

Further characterization of complement resistance conferred on Escherichia coli by the plasmid genes traT of R100 and iss of ColV,I-K94 [PDF]

Infection and Immunity, 1982
We have shown that the traT gene product was responsible for the complement resistance of the R100 plasmid. We compared this resistance with that specified by the iss gene of the ColV,I-K94 plasmid. The levels of resistance specified by the two genes were similar, and there was no additive effect on resistance when both genes were present together ...
M M, Binns, J, Mayden, R P, Levine
openaire   +2 more sources

TMC4 localizes to multiple taste cell types in the mouse taste papillae

FEBS Open Bio, EarlyView.
Transmembrane channel‐like 4 (TMC4), a voltage‐dependent chloride channel, plays a critical role in amiloride‐insensitive salty taste transduction. TMC4 is broadly expressed in all mature taste cell types, suggesting a possible involvement of multiple cell types in this pathway.
Momo Murata, Yoshikazu Saito, Yoichi Kasahara, Wataru Fujii, Takumi Misaka, Tomiko Asakura, Masataka Narukawa   +6 more
wiley   +1 more source

Hepatocyte growth factor gene therapy reduces ventricular arrhythmia in animal models of myocardial ischemia. [PDF]

, 2005
It was recently reported that gene therapy using hepatocyte growth factor (HGF) has the potential to preserve cardiac function after myocardial ischemia. We speculated that this HGF gene therapy could also prevent ventricular arrhythmia.
Aoki, Motokuni, Hashimoto, Katsushi, Kaneda, Yasufumi, Kusano, Kengo Fukushima, Morishita, Ryuichi, Nakamura, Kazufumi, Ohe, Tohru, Yumoto, Akihisa   +7 more
core   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source