Results 231 to 240 of about 205,219 (310)

Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To study the genetic risk factors of Fuchs endothelial corneal dystrophy (FECD) in the Finnish population using hospital‐based and large biobank cohorts. Methods We genotyped a cohort of 107 Finnish patients with FECD for the primary associated genetic risk factor, the TCF4 (CTG)>50 expansion, and studied their clinical phenotype.
Inka‐Tuulevi Vähämäki, Annamari T. Immonen, Joel T. Rämö, Aino M. Jaakkola, Kari Krootila, Maria Kaukonen, FinnGen, Aarno Palotie, Hannes Lohi, Tero T. Kivelä, Joni A. Turunen   +10 more
wiley   +1 more source

Assessing the Impact of Novel BRCA1 Exon 11 Variants on Pre-mRNA Splicing. [PDF]

Cells
Elshwekh H, Alhudiri IM, Elzagheid A, Enattah N, Abbassi Y, Abou Assali L, Marino I, Stuani C, Buratti E, Romano M.   +9 more
europepmc   +1 more source

Pre-mRNA-Splicing Regulator WTAP [PDF]

, 2020
openaire   +1 more source

The DNA/RNA autophagy protein SIDT2 as a novel neuropathological hallmark in Huntington disease

Brain Pathology, EarlyView.
SIDT2‐immunoreactive inclusions are observed in the striatum, cerebral cortex, and hypothalamus in HD cases with different Vonsattel grades, and the frequency of SIDT2‐immunoreactive inclusions is associated with longer CAG repeats in the huntingtin gene.
Sanaz Gabery, Sofia Bergh, Chrisovalantou Huridou, Rachel Y. Cheong, Barbara Baldo, Paul Günther Scheunemann, Marie‐Louisa Schoebel, Linda Holmquist Mengelbier, Elisabet Englund, Catriona McLean, Carsten Saft, Deniz Kirik, Maria Björkqvist, Glenda Halliday, Elisabeth Petrasch‐Parwez, Huu Phuc Nguyen, Jonasz Jeremiasz Weber, Åsa Petersén   +17 more
wiley   +1 more source

Importance of pre-mRNA splicing and its study tools in plants. [PDF]

Adv Biotechnol (Singap)
Liu Y, Do S, Huynh H, Li JX, Liu YG, Du ZY, Chen MX.   +6 more
europepmc   +1 more source

Compartmentalisation in cAMP signalling: A phase separation perspective

British Journal of Pharmacology, EarlyView.
Cells rely on precise spatiotemporal control of signalling pathways to ensure functional specificity. The compartmentalisation of cyclic AMP (cAMP) and protein kinase A (PKA) signalling enables distinct cellular responses within a crowded cytoplasmic space.
Milda Folkmanaite, Manuela Zaccolo
wiley   +1 more source

Natural rules for Arabidopsis thaliana pre-mRNA splicing site selection

Open Life Sciences, 2012
Wu Ning, Matand Kanyand, Wu Huijuan, Li Baoming, Love Kayla, Stoutermire Brittany, Wu Yanfeng   +6 more
doaj   +1 more source

Targeting hexokinase 2 to induce breast cancer cell senescence

British Journal of Pharmacology, EarlyView.
Background and Purpose Hexokinase 2 (HK2) is a key enzyme linked to high tumour cell proliferation. Its inhibitors such as 3‐bromopyruvic acid (3‐BP) induce cancer cell death, highlighting HK2 modulation as potential anti‐cancer treatment. However, standard chemotherapies often cause the emergence of senescent cancer cells, which goes along with cell ...
Helmut Bischof, Katarina Cisarova, Sandra Burgstaller, Mia Schwerer, Markus Absenger‐Novak, Philipp J. Jost, Roland Malli, Wolfgang F. Graier, Robert Lukowski   +8 more
wiley   +1 more source

KHSRP ameliorates acute liver failure by regulating pre-mRNA splicing through its interaction with SF3B1. [PDF]

Cell Death Dis
Li M, Fang Q, Xiao P, Yin Z, Mei G, Wang C, Xiang Y, Zhao X, Qu L, Xu T, Zhang J, Liu K, Li X, Dong H, Xiao R, Zhou R.   +15 more
europepmc   +1 more source

Renal‐vascular axis: unmasking its role in vascular endothelial growth factor‐inhibitor vascular toxicity in cancer patients

British Journal of Pharmacology, EarlyView.
Abstract Vascular toxicity is a growing concern in cancer patients receiving vascular endothelial growth factor inhibitor (VEGFi) therapy, posing a significant threat to patient prognosis. While the primary mechanism of VEGFi‐induced vascular toxicity is linked to redox‐sensitive reactions that disrupt vascular tone, leading to hypertension and ...
Grace Whelan, Karla B. Neves
wiley   +1 more source