Results 201 to 210 of about 240,839 (324)

Calcinosis cutis of the lower legs – hyperphosphatemic familial tumoral calcinosis in a patient with GALNT3 mutation

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
David Ranzinger, Tobias Schaefer, Franziska Schauer, Kilian Eyerich, Anna Caroline Pilz   +4 more
wiley   +1 more source

Volitional exercise elicits physiological and molecular improvements in the severe D2.mdx mouse model of Duchenne muscular dystrophy

The Journal of Physiology, EarlyView.
Abstract figure legend This study investigated the effects of volitional exercise on muscle health in the more severe D2.mdx model of Duchenne muscular dystrophy (DMD). We showed that 8–10 weeks of a relatively high volume of voluntary wheel running (VWR) in D2.mdx animals augmented select muscle mass and normalized ex vivo muscle force compared to ...
Stephanie R. Mattina, Sean Y. Ng, Andrew I. Mikhail, Derek W. Stouth, Cora E. Jornacion, Irena A. Rebalka, Thomas J. Hawke, Vladimir Ljubicic   +7 more
wiley   +1 more source

RNA-Based Strategies for Cancer Therapy: In Silico Design and Evaluation of ASOs for Targeted Exon Skipping. [PDF]

Int J Mol Sci, 2023
Pacelli C, Rossi A, Milella M, Colombo T, Le Pera L.   +4 more
europepmc   +1 more source

Identification of a Homozygous Exon-Skipping Mutation in the LAMC2 Gene in a Patient with Herlitz's Junctional Epidermolysis Bullosa

, 1995
Joëlle Vailly, Leena Pulkkinen, Angela M. Christiano, Karl Tryggvason, Jouni Uitto, Jean‐Paul Ortonne, Guerrino Meneguzzi   +6 more
openalex   +1 more source

The Contribution of Exon-Skipping Events on Chromosome 22 to Protein Coding Diversity [PDF]

, 2001
Yoshihide Hayashizaki, Vladimir N. Babenko, Peter Van Heusden, Cathal Seoighe, Janet Kelso   +4 more
openalex   +1 more source

Expert Consensus on the Clinical Application of PI3K/AKT/mTOR Inhibitors in the Treatment of Breast Cancer (2025 Edition)

Cancer Innovation, Volume 4, Issue 3, June 2025.
ABSTRACT Background The phosphoinositide 3‐kinase (PI3K)/protein kinase B (PKB or AKT)/mammalian target of rapamycin (mTOR) signaling pathway (PAM pathway) plays a critical role in breast cancer pathogenesis and progression, and is closely linked with resistance to endocrine therapy in advanced breast cancer.
The Breast Cancer Expert Committee of the National Quality Control Center for Cancer, The Expert Committee on Cancer Prevention and Treatment of the Health China Research Center, The Society of Clinical Research on Oncology Medications of the China Anti‐Cancer Association, The Society of Onco‐Pathology of the China Anti‐Cancer Association   +3 more
wiley   +1 more source

Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype [PDF]

, 2001
Vittorio Sossi, A. De Giuli, Tiziana Vitali, Francesco Danilo Tiziano, Massimiliano Mirabella, A. Antonelli, Giovanni Neri, Christina Brahe   +7 more
openalex   +1 more source

Epileptic spasms and RNA analysis in a new case of Kabuki syndrome type 2

Epilepsia, EarlyView.
Flavia Privitera, Camilla Meossi, Filippo Maria Santorelli, Emanuele Bartolini   +3 more
wiley   +1 more source

CEP162: A critical regulator of ciliary transition zone assembly and its implications in ciliopathies

Journal of Cell Communication and Signaling, Volume 19, Issue 2, June 2025.
Abstract CEP162, a 162‐kDa centrosome protein, is a crucial centrosomal adapter, mediating cell differentiation and polarization. CEP162 maintains mitosis by dynamically stabilizing microtubules. CEP162 promotes the transition zone (TZ) assembly in the basal body through interaction with CEP131, CEP290, and axoneme microtubules as well as the distal ...
Jun Yin, Jialian Bai, Xiaochong He, Wenjuan He, Hongming Miao, Mengjie Zhang, Zhongying Yu, Bing Ni   +7 more
wiley   +1 more source

Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae

, 1998
Sergej Feshchenko, Jürgen Brinckmann, Hartwig Lehmann, Hans-Georg Koch, Peter Müller, Sebastian Kügler   +5 more
openalex   +1 more source