Results 41 to 50 of about 83,578 (286)

Splice site, frameshift, and chimericGFAPmutations in Alexander disease [PDF]

Human Mutation, 2012
Alexander disease (AxD) is a usually fatal astrogliopathy primarily caused by mutations in the gene encoding glial fibrillary acidic protein (GFAP), an intermediate filament protein expressed in astrocytes. We describe three patients with unique characteristics, and whose mutations have implications for AxD diagnosis and studies of intermediate ...
James M. Powers, Josef Ekstein, Alan K. Percy, Michael Brenner, John F. Mantovani, John F. Mantovani, James E. Goldman, Rong Li, Albee Messing, Lital S. Webster, Sakkubai Naidu, Edwin H. Kolodny, Daniel Flint, Marjo S. van der Knaap   +13 more
openaire   +3 more sources

The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function

BMC Medical Genetics, 2010
Background Mutations of EFNB1 cause the X-linked malformation syndrome craniofrontonasal syndrome (CFNS). CFNS is characterized by an unusual phenotypic pattern of inheritance, because it affects heterozygous females more severely than hemizygous males ...
Wieacker Peter, Tasic Velibor, Gucev Zoran, Steiner Bernhard, Makarov Roman, Wieland Ilse   +5 more
doaj   +1 more source

SPLICE SITE MUTATIONS IN THE WISKOTT ALDRICH SYNDROME. • 59 [PDF]

Pediatric Research, 1996
The Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by thrombocytopenia and small platelet volume, without or with eczema, immunodeficiency, and autoimmune disorders. The WAS gene has been cloned and sequenced, and a polyclonal antibody to the WAS protein (WASP) generated.
Jerry A. Winkelstein, Hans D. Ochs, Oili Zhu, Ting Liu, R. Michael Blaese, Anne K. Junker   +5 more
openaire   +2 more sources

Discovery of driver non-coding splice-site-creating mutations in cancer [PDF]

Nature Communications, 2020
AbstractNon-coding mutations can create splice sites, however the true extent of how such somatic non-coding mutations affect RNA splicing are largely unexplored. Here we use the MiSplice pipeline to analyze 783 cancer cases with WGS data and 9494 cases with WES data, discovering 562 non-coding mutations that lead to splicing alterations. Notably, most
Song Cao, Daniel Cui Zhou, Clara Oh, Reyka G. Jayasinghe, Yanyan Zhao, Christopher J. Yoon, Matthew A. Wyczalkowski, Matthew H. Bailey, Terrence Tsou, Qingsong Gao, Andrew Malone, Sheila Reynolds, Ilya Shmulevich, Michael C. Wendl, Feng Chen, Li Ding   +15 more
openaire   +5 more sources

Modifying splice site usage with ModCon: Maintaining the genetic code while changing the underlying mRNP code

Computational and Structural Biotechnology Journal, 2021
Codon degeneracy of amino acid sequences permits an additional “mRNP code” layer underlying the genetic code that is related to RNA processing. In pre-mRNA splicing, splice site usage is determined by both intrinsic strength and sequence context ...
Johannes Ptok, Lisa Müller, Philipp Niklas Ostermann, Anastasia Ritchie, Alexander T. Dilthey, Stephan Theiss, Heiner Schaal   +6 more
doaj  

Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man. [PDF]

PLoS ONE, 2015
The spf/ash mouse model of ornithine transcarbamylase (OTC) deficiency, a severe urea cycle disorder, is caused by a mutation (c.386G>A; p.R129H) in the last nucleotide of exon 4 of the Otc gene, affecting the 5' splice site and resulting in partial use ...
Ana Rivera-Barahona, Rocío Sánchez-Alcudia, Hiu Man Viecelli, Veronique Rüfenacht, Belén Pérez, Magdalena Ugarte, Johannes Häberle, Beat Thöny, Lourdes Ruiz Desviat   +8 more
doaj   +1 more source

New Splicing-site Mutations in the SURF1Gene in Leigh Syndrome Patients [PDF]

Journal of Biological Chemistry, 2001
The gene SURF1 encodes a factor involved in the biogenesis of cytochrome c oxidase, the last complex in the respiratory chain. Mutations of the SURF1 gene result in Leigh syndrome and severe cytochrome c oxidase deficiency. Analysis of seven unrelated patients with cytochrome c oxidase deficiency and typical Leigh syndrome revealed different SURF1 ...
Pequignot M. O., Desguerre I., Dey R., Tartari M., Zeviani M., Agostino A., Benelli C., Fouque F., Prip-Buus C., Marchant D., Abitbol M., Marsac C.   +11 more
openaire   +4 more sources

Making tau amyloid models in vitro: a crucial and underestimated challenge

FEBS Letters, EarlyView.
This review highlights the challenges of producing in vitro amyloid assemblies of the tau protein. We review how accurately the existing protocols mimic tau deposits found in the brain of patients affected with tauopathies. We discuss the important properties that should be considered when forming amyloids and the benchmarks that should be used to ...
Julien Broc, Clara Piersson, Yann Fichou
wiley   +1 more source

The cytoskeletal control of B cell receptor and integrin signaling in normal B cells and chronic lymphocytic leukemia

FEBS Letters, EarlyView.
In lymphoid organs, antigen recognition and B cell receptor signaling rely on integrins and the cytoskeleton. Integrins act as mechanoreceptors, couple B cell receptor activation to cytoskeletal remodeling, and support immune synapse formation as well as antigen extraction.
Abhishek Pethe, Tanja Nicole Hartmann
wiley   +1 more source

Pathogenesis of acephalic spermatozoa syndrome caused by PMFBP1 mutation

Basic and Clinical Andrology
Background Acephalic spermatozoa syndrome is a rare but severe type of teratozoospermia. The familial trait of acephalic spermatozoa syndrome suggests that genetic factors play an important role.
Huaqiang Xia, Juan Zhang, Wuyuan Mao, Kangle Yi, Teng Wang, Lingyan Liao   +5 more
doaj   +1 more source