Results 301 to 310 of about 3,325,944 (356)

The impact of subunit type, alternative splicing, and auxiliary proteins on AMPA receptor trafficking. [PDF]

J Biol Chem
Couch T, McCullock TW, MacLean DM.
europepmc   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

STAU1 exhibits oncogenic characteristics and modulates alternative splicing and gene expression in lung adenocarcinoma cells. [PDF]

Sci Rep
Zhang L, Peng Z, Ding W, Wu H, Guo R, Li D, Niu L, Wei X.   +7 more
europepmc   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

KPNA2 promotes osteosarcoma progression by regulating the alternative splicing of DDX3X mediated by YBX1. [PDF]

Oncogene
Cao L, Jia K, Van Tine BA, Yu Y, Peng Y, Chen X, Pan Q, Yang W, Zhang Z, Shao Z, Wu W.   +10 more
europepmc   +1 more source

ABA-induced alternative splicing drives transcriptomic reprogramming for drought tolerance in barley. [PDF]

BMC Plant Biol
Collin A, Matkowski H, Sybilska E, Biantari A, Król O, Daszkowska-Golec A.   +5 more
europepmc   +1 more source

SRSF7 promotes pulmonary fibrosis through regulating PKM alternative splicing in lung fibroblasts. [PDF]

Acta Pharm Sin B
Jin T, Gao H, Wang Y, Ning Z, Bing D, Wang Y, Chen Y, Tian X, Liu Q, Niu Z, Guo J, Sun J, Yang R, Wang Q, Li S, Li T, Zhou Y, He W, Lu Y, Gu Y, Liang H.   +20 more
europepmc   +1 more source

Alternative splicing fine-tunes prey shift of Coccinellini lady beetles to non-target insect. [PDF]

BMC Genomics
Tang X, Xia X, Liu Y, Hong X, Huang Y, Li G, Liang Y, Wang X, Pang H, Yang Y.   +9 more
europepmc   +1 more source