Results 81 to 90 of about 393,617 (341)

The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study. [PDF]

, 2013
IntroductionDuchenne muscular dystrophy (DMD) subjects ≥5 years with nonsense mutations were followed for 48 weeks in a multicenter, randomized, double-blind, placebo-controlled trial of ataluren.
Abresch, R Ted, Barth, Jay, Eagle, Michelle, Elfring, Gary, Florence, Julaine M, Gappmaier, Eduard, Glanzman, Allan M, Henricson, Erik K, McDonald, Craig M, Peltz, Stuart, PTC124-GD-007-DMD Study Group, Reha, Allen, Spiegel, Robert   +12 more
core   +2 more sources

Simultaneous inhibition of TRIM24 and TRIM28 sensitises prostate cancer cells to antiandrogen therapy, decreasing VEGF signalling and angiogenesis

Molecular Oncology, EarlyView.
TRIM24 and TRIM28 are androgen receptor (AR) coregulators which exhibit increased expression with cancer progression. Both TRIM24 and TRIM28 combine to influence the response of castrate‐resistant prostate cancer (CRPC) cells to AR inhibitors by mediating AR signalling, regulation of MYC and upregulating VEGF to promote angiogenesis. Castrate‐resistant
Damien A. Leach, Nilesh Chatterjee, Kellie Spahr, Gilberto Serrano de Almeida, Anabel Varela‐Carver, Taimur T. Shah, Mathias Winkler, Hashim U. Ahmed, Charlotte L. Bevan   +8 more
wiley   +1 more source

A Convolutional Neural Network for the Automatic Diagnosis of Collagen VI related Muscular Dystrophies

, 2019
The development of machine learning systems for the diagnosis of rare diseases is challenging mainly due the lack of data to study them. Despite this challenge, this paper proposes a system for the Computer Aided Diagnosis (CAD) of low-prevalence ...
Badosa, Carmen, Bazaga, Adrián, Jiménez-Mallebrera, Cecilia, Porta, Josep M., Roldán, Mònica   +4 more
core   +1 more source

Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study. [PDF]

, 2018
Peculiar cognitive profile of patients with SBMA has been described by fragmented literature. Our retrospective study reports the neuropsychological evaluations of a large cohort of patients in order to contribute towards the understanding of this field.
A. (2018).,, Bertolin, C., Cipolletta, S., Kleinbub, J. R., Marcato, S., Martinelli, I., Palmieri, Arianna, Pegoraro, E, Pick, E., Querin, G., Sorar\uf9, G.   +10 more
core   +1 more source

Endoglin mediates the tumor‐ and metastasis‐promoting traits of stromal myofibroblasts in human breast carcinomas

Molecular Oncology, EarlyView.
Carcinoma‐associated fibroblasts (CAFs) in tumors influence cancer progression. We identified endoglin (ENG) as a key factor in TGF‐β signaling in myofibroblastic CAFs (myCAFs), linked to poor breast cancer outcomes. Inhibiting ENG on myCAFs suppressed the TGF‐β‐Smad2/3 pathway, reducing primary tumor growth and metastasis.
Shoki Okubo, Yoshihiro Mezawa, Zixu Wang, Ahmet Acar, Yasuhiko Ito, Atsushi Takano, Yohei Miyagi, Tomoyuki Yokose, Toshinari Yamashita, Yataro Daigo, Takuya Shirakihara, Akira Orimo   +11 more
wiley   +1 more source

Epigenetic reprogramming of muscle progenitors: inspiration for clinical therapies [PDF]

, 2015
In the context of regenerative medicine, based on the potential of stem cells to restore diseased tissues, epigenetics is becoming a pivotal area of interest.
Consalvi, Silvia, Saccone, Valentina, Sandona', Martina   +2 more
core   +4 more sources

Understanding and measuring mechanical signals in the tumor stroma

FEBS Open Bio, EarlyView.
This review discusses cancer‐associated fibroblast subtypes and their functions, particularly in relation to extracellular matrix production, as well as the development of 3D models to study tumor stroma mechanics in vitro. Several quantitative techniques to measure tissue mechanical properties are also described, to emphasize the diagnostic and ...
Fàtima de la Jara Ortiz, Chiara Cimmino, Maurizio Ventre, Alessandra Cambi   +3 more
wiley   +1 more source

The UK myotonic dystrophy patient registry: facilitating and accelerating clinical research [PDF]

, 2017
Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy worldwide with complex, multi-systemic, and progressively worsening symptoms. There is currently no treatment for this inherited disorder and research can be challenging due to the ...
Atalaia, Antonio, Cordts, Isabell, Hammans, Simon, Hilton-Jones, David, Jimenez-Moreno, Aura Cecilia, Lochmüller, Hanns, Maddison, Paul, Marini-Bettolo, Chiara, Monckton, Darren G., Nikolenko, Nikoletta, Orrell, Richard, Petty, Richard, Phillips, Margaret, Roberts, Mark, Rogers, Mark, Straub, Volker, Thompson, Rachel, Turner, Chris, Wood, Libby   +18 more
core   +4 more sources

Bioengineering facets of the tumor microenvironment in 3D tumor models: insights into cellular, biophysical and biochemical interactions

FEBS Open Bio, EarlyView.
The tumor microenvironment is a dynamic, multifaceted complex system of interdependent cellular, biochemical, and biophysical components. Three‐dimensional in vitro models of the tumor microenvironment enable a better understanding of these interactions and their impact on cancer progression and therapeutic resistance.
Salma T. Rafik, Deniz Bakkalci, Alexander J. MacRobert, Umber Cheema   +3 more
wiley   +1 more source

Antisense oligonucleotides and other genetic therapies made simple [PDF]

, 2018
Many genetic neurological diseases result from the dysfunction of single proteins. Genetic therapies aim to modify these disease-associated proteins by targeting the RNA and DNA precursors.
Reilly, M, Rossor, A, Sleigh, JN
core   +1 more source