Results 181 to 190 of about 3,322,892 (202)

Comparative analysis of TP53 gene in Tupaia belangeri subspecies (Tupaia belangeri yaoshanensis vs. Tupaia belangeri chinensis) and identification of mutations in spontaneous tumor cases

Animal Models and Experimental Medicine, EarlyView.
This study provides the first evidence of natural TP53 variation between tree shrew subspecies and identifies somatic TP53 mutations in spontaneous tree shrew sarcomas. The high structural and functional conservation of tree shrew p53 with humans supports its utility as a relevant model for TP53‐related cancer research.
Yingying Cao, Haibo Tang, Liang Liang, Jing Leng, Weijian Huang   +4 more
wiley   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

SOLiD‐MaP: A Photoproximity Labeling Platform for Small Molecule Binding Site Mapping on RNA

Angewandte Chemie, EarlyView.
SOLiD‐MaP is a ligand‐directed photoproximity labeling strategy developed for RNA binding‐site analysis. Singlet oxygen‐mediated labeling creates a proximity‐dependent chemical footprint of bound small molecules on RNA. Coupling this chemistry with mutational profiling enables identification of the ligand‐binding region at nucleotide resolution ...
Lin L. Rietveld, Wei Wu, Filip M. Zawisza, Danny Incarnato, Zeshi Li   +4 more
wiley   +2 more sources

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

LncRSFD Alternative Splicing Modulates the Proliferation and Differentiation of Adipocytes Through Sponging miRNAs

Animal Research and One Health, EarlyView.
This study identified a molecule named lncRSFD, which is highly expressed in sheep adipose tissues. The lncRSFD gene generates two distinct transcript variants via alternative splicing: lncRSFD‐L and lncRSFD‐S. Functionally, lncRSFD alternative splicing (lncRSFD‐L/S) promotes the proliferation, differentiation, and lipid metabolism of adipocytes ...
Jinpeng Wang, Qiuyang Li, Zhiying Wang, Shan Zhang, Kassahun Bekana, Qingfeng Zhang, Juanshan Zheng, Hongwei Xu, Xianyong Lan, Chuanying Pan   +9 more
wiley   +1 more source

A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency

Journal of Human Genetics, 2003
Item does not contain fulltextMitochondrial beta-oxidation of long-chain fatty acids requires the concerted action of three tightly integrated membrane-bound enzymes (carnitine palmitoyltransferase I and II and carnitine/acylcarnitine translocase) that ...
Ronald Wanders, Lambert P van den Heuvel, Hans R Scholte   +2 more
exaly   +2 more sources

Redefinition of Exon 7 in the COL1A1 Gene of Type I Collagen by an Intron 8 Splice-Donor–Site Mutation in a Form of Osteogenesis Imperfecta: Influence of Intron Splice Order on Outcome of Splice-Site Mutation [PDF]

American Journal of Human Genetics, 1999
SummaryMost splice-site mutations lead to a limited array of products, including exon skipping, use of cryptic splice-acceptor or -donor sites, and intron inclusion.
Peter H. Byers, Ulrike Schwarze
exaly   +2 more sources

Some of the next articles are maybe not open access.

Related searches:

A novel splice site FUS mutation in a familial ALS case: effects on protein expression

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2022
Antonio Canosa, Maurizio Grassano, Cristina Moglia   +2 more
exaly  

Novel Splice Site Mutation in the PROS1 Gene in a Polish Patient with Venous Thromboembolism: c.602-2delA, Splice Acceptor Site of Exon 7

Medicina (Lithuania), 2020
Anetta Undas, Ewa Wypasek, Daniel P Potaczek   +2 more
exaly