Results 291 to 300 of about 838,049 (387)

B chromosome retrotransposed sequences persist through speciation, contributing to genomic and regulatory innovations in the fish genus Psalidodon (Characiformes, Acestrorhamphidae). [PDF]

PLoS One
Lasmar LF, Vidal MR, Nadai PCF, Dos Santos RZ, Machado RDC, Utsunomia R, Ruiz-Ruano FJ, Suh A, Oliveira C, M Z A Silva D, Foresti F.   +10 more
europepmc   +1 more source

Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease

Proceedings of the National Academy of Sciences of the United States of America, 2013
K. Sathasivam, Andreas Neueder, T. A. Gipson, C. Landles, Agnesska C. Benjamin, Marie K Bondulich, Donna L. Smith, R. Faull, R. Roos, D. Howland, P. Detloff, D. Housman, G. Bates   +12 more
semanticscholar   +1 more source

Cleavage‐Resistant CYLD Protects Against Autoimmune Hepatitis

Advanced Science, EarlyView.
Proteolytic cleavage of the deubiquitinase CYLD emerges as a critical driver of autoimmune hepatitis. TNFα‐induced CYLD loss in macrophages amplifies S100A9‐triggered MAPK activation, leading to excessive chemokine production and hepatic inflammation. Pharmacological inhibition of MEK signaling effectively attenuates experimental disease, highlighting ...
Han Liu, Chen Su, Jianling Liu, Mingyan Xing, Xiaoxia Wu, Lingxia Wang, Xiaoming Zhao, Hanwen Zhang, YangYang Xie, YangYang Wang, Hong Li, Yu Li, Ming Li, Haibing Zhang   +13 more
wiley   +1 more source

Alternative Splicing of SORBS1 Affects Neuromuscular Junction Integrity in Myotonic Dystrophy Type 1. [PDF]

J Cachexia Sarcopenia Muscle
Hermitte C, de Calbiac H, Moulay G, Mérien A, Lainé J, Polvèche H, Cailleret M, Vassilopoulos S, Kabashi E, Furling D, Martinat C, Gazzola M.   +11 more
europepmc   +1 more source

Proteogenomic Characterization Reveals Subtype‐Specific Therapeutic Potential for HER2‐Low Breast Cancer

Advanced Science, EarlyView.
Multiomic profiling of HER2‐low breast cancer identifies three proteomic subtypes with distinct therapeutic strategies: endocrine, antiangiogenic, and anti‐HER2 therapies. Genomic and lactate modification landscapes are detailed, providing insights for precise management.
Shouping Xu, Keda Yu, Lei Liu, Qin Wang, Xiaohui Wu, Yihai Chen, Guozheng Li, Xin Zhang, Bo Wei, Zitong Fu, Abiyasi Nanding, Zuxianglan Zhao, Lingbing Yang, Xingda Zhang, Jianyu Wang, Wantong Sun, Yi Hao, Zhongyi Cheng, Xiaojiang Cui, Hao Wu, Da Pang   +20 more
wiley   +1 more source

The Risk of Breast Cancer According to Mutation Type and Position in Carriers of a Pathogenic Variant in <i>BRCA1</i>. [PDF]

Curr Oncol
Kotsopoulos J, Apostol AI, Metcalfe K, Jorgji D, Cybulski C, Gronwald J, Lubinski J, Moller P, Kim RH, Aeilts A, Ramón Y Cajal T, Pal T, Bordeleau L, Karlan BY, Singer CF, Foulkes WD, Couch FJ, Zakalik D, Fruscio R, Tung N, Sun P, Monteiro AN, Narod SA, Akbari MR, Hereditary Breast Cancer Clinical Study Group.   +24 more
europepmc   +1 more source

Detection of exon 9 deletion by MLPA

, 2011
J.W. Redeker Egbert, S.H. de Visser Annette, A.B. Bergen Arthur, M.A.M. Mannens Marcel   +3 more
openalex   +1 more source

Exon Recognition in Vertebrate Splicing (*)

Journal of Biological Chemistry, 1995
S. Berget
semanticscholar   +1 more source

Syntaxin 3B Mediates Light‐Dependent Interactions with STXBP1 and Arrestin 4: Distinct Roles in Rods and Cones

Advanced Science, EarlyView.
The present study investigates a cone‐specific STX3 knockout model, displaying a complete loss of cone function, a later onset reduction in rod function, and photoreceptor cell death. A cone‐specific depletion of STXBP1 and ARR4 could be observed in this model.
Lars Tebbe, Larissa Ikelle, Mustafa S. Makia, Mashal Kakakhel, Muayyad R. Al‐Ubaidi, Muna I. Naash   +5 more
wiley   +1 more source

ImmunoPepper: extracting personalized peptides from complex splicing graphs. [PDF]

Bioinformatics
Prélot L, Chen J, Hüser M, Kahles A, Rätsch G.   +4 more
europepmc   +1 more source