Results 211 to 220 of about 91,518 (258)

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

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Information analysis of human splice site mutations

Human Mutation, 1998
Splice site nucleotide substitutions can be analyzed by comparing the individual information contents (Ri, bits) of the normal and variant splice junction sequences [Rogan and Schneider, 1995]. In the present study, we related splicing abnormalities to changes in Ri values of 111 previously reported splice site substitutions in 41 different genes ...
Rogan, Peter K., Faux, Brian M., Schneider, Thomas D.   +2 more
openaire   +2 more sources

MSH2 splice site mutation and endometrial cancer

International Journal of Gynecological Cancer, 2006
Hereditary nonpolyposis colorectal cancer (HNPCC) is an inherited syndrome of cancer susceptibility caused by germ line mutations of genes participating in mismatch repair (MMR). Carriers of MMR gene mutations have an increased risk of colorectal cancers and cancer of other organs.
F, Bianchi, S, Rosati, L, Belvederesi, C, Loretelli, R, Catalani, A, Mandolesi, R, Bracci, I, Bearzi, E, Porfiri, R, Cellerino   +9 more
openaire   +2 more sources

Identification of an ancient haemophilia A splice site mutation

Thrombosis Research, 2012
To date, numerous mutations resulting in haemophilia A are known and recorded at HAMSTeRS. We identified a new splice site mutation in intron 6 of the F8 gene (T to G transition at position -14; c.788-14T>G) in seven not knowingly related patients, who all suffer from mild haemophilia A. RNA analysis of blood cells indicated that this mutation leads to
Reitter-Pfoertner, Sylvia, von Haeseler, Arndt, Horvath, Birgit, Sunder-Plassmann, Raute, Tiedje, Vera, Pabinger, Ingrid, Mannhalter, Christine   +6 more
openaire   +3 more sources