Results 291 to 300 of about 416,899 (328)

Expanding the Genetic and Phenotypic Spectrum of DYT‐VPS16: The Importance of Splice‐Site Variants

Movement Disorders, EarlyView.
Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E. Sanderson, Kornelia Tripolszki, Anna Marcé‐Grau, Ana Cazurro‐Gutiérrez, Anita Nikoncuk, Rebecca Herzog, Ruslan Al‐Ali, Mariana Ferreira, Ligia S. Almeida, Tainá Regina Damaceno Silveira, Suliman Khan, Raphael Doyle Maia, Péter Klivényi, András Salamon, Volkan Baltaci, Asli Subasioglu, Jeanette Prada‐Arismendy, Goran Čuturilo, Sebastian Loens, Vera Tadic, Isabelle Maystadt, Deniz Karadurmus, Barbara Leube, Jonathan De Winter, Alice Monticelli, Liesbeth De Waele, Jonathan Baets, Mateja Vinkšel, Aleš Maver, Lorena Tschopp, Gabriela Ziegler, Ana Sanguinetti, Katja Lohmann, Tahsin Stefan Barakat, Peter Bauer, Belén Perez‐Dueñas, Aida M. Bertoli‐Avella   +39 more
wiley   +1 more source

Characterization and Construction of Full-Length cDNA Infectious Clone of a Novel BCMV Isolate in Pathogroup III. [PDF]

Plants (Basel)
Zhang J, Dong L, Zhou J, Huo S, Feng H, Jing C, Feng X.   +6 more
europepmc   +1 more source

Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

Movement Disorders, EarlyView.
Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Rui Zhu, Lang Liu, Mehrdad A. Estiar, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Grace Yoon, Mark Tarnopolsky, Kym M. Boycott, Nicolas Dupre, Patrick A. Dion, Oksana Suchowersky, Albena Jordanova, Yi‐Chung Lee, Giovanni Stevanin, Stephan Zuchner, Guy A. Rouleau, Ziv Gan‐Or   +17 more
wiley   +1 more source

Rapid and Cost-Effective Digital Quantification of RNA Editing and Maturation in Organelle Transcripts by Oxford Nanopore Target-Indexed-PCR (TIP) Sequencing. [PDF]

Plant Direct
Hua Z.
europepmc   +1 more source

Genome‐wide analysis of somatic noncoding mutation patterns and mitochondrial heteroplasmic shift in type B1 and B2 thymomas

The Journal of Pathology, EarlyView.
Abstract Type B1 and B2 thymomas are lymphocyte‐rich malignant tumours with few somatic mutations in protein‐coding regions of the nuclear genome; nonetheless, noncoding regions remain uncharacterized. Here, we developed a method to isolate pure thymoma cells from lymphocyte‐rich tissues, and then performed genome‐wide deep sequencing. The total number
Kohei Fujikura, Isabel Correa, Susanne Heck, Kaoru Watanabe, Juliet King, Emma McLean, Susan Ndagire, Yoshihisa Takahashi, Masahiko Kuroda, Andrea Bille, Daisuke Nonaka   +10 more
wiley   +1 more source

Dissociation of the nuclear basket triggers chromosome loss in aging yeast. [PDF]

Elife
Mirkovic M, McCarthy J, Meinema AC, Parenteau J, Lee SS, Elela SA, Barral Y.   +6 more
europepmc   +1 more source

Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation

The Journal of Pathology, EarlyView.
Abstract Splicing dysregulation is a relevant mechanism of pathogenicity for variants in disease susceptibility genes. Variants affecting the critical intronic +1 and +2 GT nucleotides of the 5’ splice sites (5'ss) are generally strong indicators of pathogenicity.
Inés Llinares‐Burguet, Lara Sanoguera‐Miralles, Elena Bueno‐Martínez, Alicia García‐Álvarez, Alberto Valenzuela‐Palomo, Pedro Pérez‐Segura, Miguel de la Hoya, Eladio A Velasco‐Sampedro   +7 more
wiley   +1 more source

Alternative splicing in plant stress responses: potential application for crop improvement. [PDF]

Planta
Toh WK, Wong HL, Chye ML.
europepmc   +1 more source

Interactive Bioinformatics Lab: Using Genomic Databases for Active Learning in Dentistry

Journal of Dental Education, EarlyView.
François Isnaldo Dias Caldeira, Raquel Mantuaneli Scarel‐Caminaga   +1 more
wiley   +1 more source

Infantile hypophosphatasia in a Chinese patient: identification and characterization of novel compound heterozygous ALPL mutations. [PDF]

Hum Genome Var
Li W, Zeng S, Jiang J, Liu B.
europepmc   +1 more source