Results 41 to 50 of about 806,334 (155)

Functional Characterization of Argininosuccinate Lyase Gene Variants by Mini-Gene Splicing Assay

Frontiers in Genetics, 2019
ObjectiveArgininosuccinate lyase (ASL) gene mutations account for argininosuccinic aciduria (ASA). This study aimed to design a minigene construct of ASL gene in order to investigate the impact of variants on splicing.MethodsThe peripheral blood samples ...
Yanyun Wang, Yun Sun, Ming Liu, Xiaojuan Zhang, Tao Jiang, Tao Jiang   +5 more
doaj   +1 more source

Artificial Intelligence for Identifying Tumor‐Reactive CD8+ T Cells: Biological Principles, Computational Advances, and Future Directions

Med Research, EarlyView.
This review details a three‐stage paradigm shift for tumor‐reactive CD8+ T‐cell identification: decoding transcriptomic states, deciphering clonal functional efficacy, and molecular‐level therapeutic TCR design. Addressing translational hurdles and generative AI “scientific blind spots”—such as missing catch bonds—we present a visionary roadmap.
Chao Yang, Yingying Sun, Yan Zhang, Yifen Shi, Zhiwen Shi   +4 more
wiley   +1 more source

Sessiz tümör süpresör gen mutasyonlarının mrna işlenmesi üzerine olası etkilerinin minigene splicing assay ile saptanması

, 2022
Giriş: Ökaryotik genlerin transkript ürünleri öncü bir mRNA (pre-mRNA) olarak sentezlenir ve ‘Alternative splicing’ ile genelde tek pre-mRNA’dan çok sayıda olgun-mRNA oluşturulur.
Altungöz, Oğuz
core   +1 more source

Clinical and molecular characterization of a patient with MBTPS1 related spondyloepiphyseal dysplasia: Evidence of pathogenicity for a synonymous variant

Frontiers in Pediatrics, 2023
BackgroundA novel autosomal recessive skeletal dysplasia resulting from pathogenic variants in membrane-bound transcription factor peptidase, site 1 (MBTPS1) has been recently delineated.
Yeqing Yuan, Qiaoli Zhou, Chunli Wang, Wei Zhou, Wei Gu, Bixia Zheng   +5 more
doaj   +1 more source

Genetic Testing Unveils a Novel Thrombospondin‐1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79‐Year‐Old Woman

Clinical Genetics, EarlyView.
A 79‐year‐old woman with lifelong peripheral edema and an affected sister was found to harbor a novel homozygous THSD1 splice‐site variant. Reduced THSD1 expression in dermal endothelial cells supported the possibility that this variant contributes to chronic hereditary edema.
Eiko Amo, Takafumi Toyohara, Naoya Saijo, Satoko Sato, Jun Takayama, Yoshiko Suto, Yuji Noguchi, Sosuke Kinomura, Yusuke Ishizuka, Shun Watanabe, Koichi Kikuchi, Rui Makino, Mai Yoshida, Yuji Oe, Tasuku Nagasawa, Koji Okamoto, Takehiro Suzuki, Mariko Miyazaki, Shinya Kawaguchi, Takashi Suzuki, Takaaki Abe, Shigeo Kure, Atsuo Kikuchi, Tetsuhiro Tanaka   +23 more
wiley   +1 more source

Minigene library vaccine minigenes.

, 2016
Microsoft Excel formatted spreadsheet with two worksheets (Vaccine 1 and Vaccine 2) listing the Vaccine (column A), gene ID (column B), product description (column C), minigene name (column D), vaccine-specific pool number (column E), minigene sequence ...
Sean C. Murphy (565383), Arnold Kas (188137), Brad C. Stone (2607832), Jay Shendure (814), James T. Fuller (364248), Zachary P. Billman (565387), Deborah H. Fuller (361966)   +6 more
core   +1 more source

Stochastic modeling for the COMET-assay [PDF]

, 2003
We present a stochastic model for single cell gel electrophoresis (COMET-assay) data. Essential is the use of point process structures, renewal theory and reduction to intensity histograms for further data ...
Hösel, V., Boulesteix, Anne-Laure, Hösel, Volker, Liebscher, Volkmar, Liebscher, V.   +4 more
core   +1 more source

Clinical report and genetic analysis of a Chinese neonate with craniofacial microsomia caused by a splicing variant of the splicing factor 3b subunit 2 gene

Molecular Genetics & Genomic Medicine, 2023
Background Craniofacial microsomia (CFM) is a common congenital malformation with unknown pathogenesis. Although few cases have been reported, it is suggested that variants of the SF3B2 gene may lead to CFM.
Yongli Zhang, Shaohua Bi, Liying Dai, Yuwei Zhao, Yu Liu, Zifeng Shi   +5 more
doaj   +1 more source

A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott–Rallison syndrome

Diabetic Medicine, EarlyView.
Abstract Aim Deep intronic variants can disrupt splicing and cause monogenic disease but are missed by routine genetic testing. This study assessed the contribution of deep intronic variants to Wolcott–Rallison syndrome (WRS), a recessive disorder characterized by early‐onset diabetes and progressive multisystem disease caused by loss‐of‐function ...
Alaa Al Assi, Georgia Bonfield, James Russ‐Silsby, Suhel Ahmed, Thomas W. Laver, Kadri Karaer, Bayram Özhan, Ayca Altincik, Kashyap A. Patel, Jayne A. L. Houghton, Sarah E. Flanagan, Matthew B. Johnson, Elisa De Franco   +12 more
wiley   +1 more source

songuno1/single-molecule-assay: Single-molecule assay analysis

, 2023
Single-molecule assay analysis tool for "Transcriptional pause extension benefits the stand-by rather than catch-up Rho-dependent termination"
Eunho Song
core   +1 more source