Results 51 to 60 of about 1,070 (210)

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

Structure‐forward targeting of claudins with synthetic binders

FEBS Letters, EarlyView.
Claudins form the paracellular barriers between epithelial and endothelial tissues at tight junctions and are targets for molecular binders with the goal of modulating barrier permeability. Claudin‐binding molecules are relevant in drug delivery or in altering claudin interactions with disease‐causing proteins.
Alex J. Vecchio
wiley   +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.
Ting Liu, Oili Zhu, R. Michael Blaese, Anne K Junker, Jerry Winkelstein, Hans D Ochs   +5 more
openaire   +1 more source

Discerning protein pools by selective staining with self‐labeling tags

FEBS Letters, EarlyView.
Cell surface proteins have an intra‐ and extracellular pool. Combining genetic fusion to self‐labeling tags that can be addressed with small molecule fluorophores allows separating these pools. We highlight recent developments and techniques for state‐of‐the‐art interrogation of cell surface proteins in the complex tissue setting.
Kati Fischermanns, Johannes Broichhagen
wiley   +1 more source

Splice-site mutations in POU2AF1 are associated with B-cell lymphomagenesis and therapeutic response

Scientific Reports
BOB.1, encoded by POU2AF1, is one of many factors regulating physiological B-cell maturation in the germinal center. Recently, several studies have described recurrent mutations in a three-nucleotide region in the POU2AF1 splice site in the two most ...
Natalia Yanguas-Casás, Lucía Pedrosa, Beatriz Horcajo, Sagrario Gómez, Aranzazu Garcia-Grande, Rafael Muñoz-Viana, Ismael Fernández-Miranda, Marina Pérez-Aguilera, Raúl Torres-Ruiz, Sandra Rodríguez-Perales, Margarita Sánchez-Beato   +10 more
doaj   +1 more source

Functional study of a novel RHD variant IVS4+2delT leading to RhD-negative phenotype

Zhongguo shuxue zazhi
[Objective] To investigate the effect of a novel RHD genotype (RHD∗01N.01/RHD∗01.01 with IVS4+ 2delT mutation)on the RhD phenotype through in vitro experiments in a case with a serologically RhD-negative phenotype.
HAO Xiao, LI Ruirui, ZHANG Lu, YANG Yongchun   +3 more
doaj   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. [PDF]

PLoS ONE, 2012
BACKGROUND: Dravet syndrome is a severe form of epilepsy. Majority of patients have a mutation in SCN1A gene, which encodes a voltage-gated sodium channel. A recent study has demonstrated that 16% of SCN1A-negative patients have a mutation in PCDH19, the
Anna Ka-Yee Kwong, Cheuk-Wing Fung, Siu-Yuen Chan, Virginia Chun-Nei Wong   +3 more
doaj   +1 more source

Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression

Molecular Oncology, EarlyView.
In this explorative study, the abundance of circular RNA molecules in bone marrow stem cells was found to be elevated in patients with high‐risk myelodysplastic neoplasms, and to be associated with an increased risk of progression to acute myeloid leukemia.
Eileen Wedge, Morten Tulstrup, Gabriele Todisco, Pedro Moura, Christophe Côme, Jakob Werner Hansen, Jakob Schmidt Jespersen, Balthasar Schlotmann, Maria Creignou, Mette Dahl, Claudia Schöllkopf, Klas Raaschou‐Jensen, Krister Wennerberg, Bo Porse, Joachim Weischenfeldt, Eva Hellström‐Lindberg, Lasse Sommer Kristensen, Kirsten Grønbæk   +17 more
wiley   +1 more source

Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation

Molecular Therapy: Nucleic Acids, 2019
Manipulation of pre-mRNA processing is a promising approach toward overcoming disease-causing mutations and treating human diseases. We show that a combined treatment applying two splice-manipulating technologies improves therapeutic efficacies to ...
Saskia Breuel, Mariann Vorm, Anja U. Bräuer, Marta Owczarek-Lipska, John Neidhardt   +4 more
doaj   +1 more source