Results 101 to 110 of about 127,159 (238)

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

MIT/TFE family transcription factors, Mitf and Tfec, redundantly promote pigment cell differentiation and retinal epithelium pigmentation in teleosts

Developmental Dynamics, EarlyView.
Abstract Background Transcription factors of the MIT/TFE family—mitfa, mitfb, and tfec—play essential roles in specifying pigment cells derived from neural crest cells in vertebrates. In teleosts, which possess multiple pigment cell types, these factors exhibit partially redundant but largely distinct functions across different pigment lineages.
James Lister, Keisuke Sugiwaka, Tetsuaki Kimura, Rieko Tanaka, Makoto Goda, Hikaru Kobayashi, Chikako Inoue, Kawilarang W. A. Masengi, Kazunori Yamahira, Kiyoshi Naruse, Satoshi Ansai, Robert N. Kelsh, Masahiko Hibi, Hisashi Hashimoto   +13 more
wiley   +1 more source

Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice

Molecular Therapy: Nucleic Acids, 2017
Spinocerebellar ataxia type 3 (SCA3) is a currently incurable neurodegenerative disorder caused by a CAG triplet expansion in exon 10 of the ATXN3 gene.
Lodewijk J.A. Toonen, Frank Rigo, Haico van Attikum, Willeke M.C. van Roon-Mom   +3 more
doaj   +1 more source

Exon Skipping Therapies for Rare Kidney Diseases. [PDF]

J Am Soc Nephrol
Yamamura T, Nozu K.
europepmc   +3 more sources

Saponins enhance exon skipping of 2′-O-methyl phosphorothioate oligonucleotide in vitro and in vivo

, 2018
Mingxing Wang, Bo Wu, Sapana N Shah, Peijuan Lu, Qilong Lu McColl-Lockwood Laboratory for Muscular Dystrophy Research, Department of Neurology, Cannon Research Center, Carolinas Medical Center, Charlotte, NC 28203, USA Background: Antisense ...
Wang M, Wu B, Shah SN, Lu P, Lu Q
core  

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Long‐Read Pan‐Cancer Transcriptomics Unravel Distinct Alteration Trends Between Gene and Isoform Expression in Tumorigenesis

iMetaMed, EarlyView.
Long‐read profiling of 144 tumor‐normal pairs identifies isoform‐level cancer dysregulation independent of gene changes. Our scoring system prioritizes isoform‐driven prognostic genes across cancers. ABSTRACT Tumorigenesis involves transcriptomic alterations at both gene and isoform levels.
Yuying Ding, Bo Wu, Dan Zhou, Qiang Li, Dingru Li, Mengyun Cai, Zhiyan Chen, Caimei Zhong, ChuanLe Xiao, Yuhua Deng   +9 more
wiley   +1 more source

BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance

Molecular Cancer
PARP inhibitor (PARPi) therapy has transformed outcomes for patients with homologous recombination DNA repair (HRR) deficient ovarian cancers, for example those with BRCA1 or BRCA2 gene defects. Unfortunately, PARPi resistance is common.
Ksenija Nesic, John J. Krais, Yifan Wang, Cassandra J. Vandenberg, Pooja Patel, Kathy Q. Cai, Tanya Kwan, Elizabeth Lieschke, Gwo-Yaw Ho, Holly E. Barker, Justin Bedo, Silvia Casadei, Andrew Farrell, Marc Radke, Kristy Shield-Artin, Jocelyn S. Penington, Franziska Geissler, Elizabeth Kyran, Robert Betsch, Lijun Xu, Fan Zhang, Alexander Dobrovic, Inger Olesen, Rebecca Kristeleit, Amit Oza, Iain McNeish, Gayanie Ratnayake, Nadia Traficante, Australian Ovarian Cancer Study, Anna DeFazio, David D. L. Bowtell, Thomas C. Harding, Kevin Lin, Elizabeth M. Swisher, Olga Kondrashova, Clare L. Scott, Neil Johnson, Matthew J. Wakefield   +37 more
doaj   +1 more source

Repurposing Dantrolene for Long-Term Combination Therapy to Potentiate Antisense-Mediated DMD Exon Skipping in the mdx Mouse

Molecular Therapy: Nucleic Acids, 2018
Duchenne muscular dystrophy (DMD) is caused by mutations in DMD, resulting in loss of dystrophin, which is essential to muscle health. DMD “exon skipping” uses anti-sense oligo-nucleotides (AONs) to force specific exon exclusion during mRNA processing to
Derek W. Wang, Ekaterina I. Mokhonova, Genevieve C. Kendall, Diana Becerra, Yalda B. Naeini, Rita M. Cantor, Melissa J. Spencer, Stanley F. Nelson, M. Carrie Miceli   +8 more
doaj   +1 more source

Long‐term clinical trajectory of microvillus inclusion disease associated with STXBP2‐related familial hemophagocytic lymphohistiocytosis type 5: A case report

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Familial hemophagocytic lymphohistiocytosis type 5 is caused by biallelic pathogenic variants in STXBP2, which encodes syntaxin‐binding protein, a key regulator of vesicle trafficking. In addition to immune dysregulation, patients with familial hemophagocytic lymphohistiocytosis type 5 may present with severe, persistent diarrhea associated ...
Hiroyuki Tanaka, Mariko Sekiguchi, Yuko Kajiho, Tetsuo Ushiku, Jun Fujishiro, Motohiro Kato   +5 more
wiley   +1 more source