Results 81 to 90 of about 30,223 (276)

First Report of Homozygous COL7A1 c.5756delG Mutation Causing Recessive Dystrophic Epidermolysis Bullosa in a Non‐Consanguineous Japanese Family

JEADV Clinical Practice, EarlyView.
ABSTRACT Severe recessive dystrophic epidermolysis bullosa (RDEB) is usually caused by biallelic loss‐of‐function mutations in COL7A1. While the c.5756delG variant has been previously reported in heterozygous form, its clinical impact in homozygosity has not been described.
Nozomi Kohama, Sayaka Yamaguchi, Teruki Yanagi, Yumi Akamine, Kimiko Nonaka, Daisuke Utsumi, Kenzo Takahashi   +6 more
wiley   +1 more source

Proteome‐Wide Analysis of Human Deletions

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT Protein deletions are frequent among both natural and pathogenic variations. Many of them are misclassified in variation databases and the literature. Nonsense‐mediated decay prevents the expression of many nucleotide deletions. Many variants classified as protein deletions are not expressed at all.
Haoyang Zhang, Xinning Luan, Mauno Vihinen   +2 more
wiley   +1 more source

Nature Inspired Delivery Vehicles for CRISPR‐Based Genome Editing

Small, EarlyView.
The review highlights nature‐inspired nanocarriers for CRISPR delivery, emphasizing viral vectors, extracellular vesicles, liposomes, and lipid nanoparticles. It discusses their roles in improving specificity, minimizing immunogenicity, and overcoming barriers in genome editing. Recent advancements, challenges, and therapeutic applications are explored,
Elizabeth Maria Clarissa, Mamata Karmacharya, Hyunmin Choi, Sumit Kumar, Yoon‐Kyoung Cho   +4 more
wiley   +1 more source

Tepotinib in patients with NSCLC harbouring MET exon 14 skipping: Japanese subset analysis from the Phase II VISION study [PDF]

, 2021
Hiroshi Sakai, Masahiro Morise, Terufumi Kato, Shingo Matsumoto, Tomohiro Sakamoto, Toru Kumagai, Takaaki Tokito, Shinji Atagi, Toshiyuki Kozuki, Hiroshi Tanaka, Kenichi Chikamori, Naofumi Shinagawa, Hiroaki Takeoka, Rolf Bruns, Josef Straub, Karl Maria Schumacher, Paul K. Paik   +16 more
openalex   +1 more source

Molecular mechanisms of sex determination in Lepidoptera: current status and perspectives

Insect Science, EarlyView.
The genetic basis of sex determination in Lepidoptera was discovered in 2014 in the silkworm Bombyx mori. In this model species, the W chromosome‐derived small piRNA called Fem piRNA downregulates the expression of a Z‐linked gene, Masculinizer (Masc), which leads to the default female‐specific splicing of the doublesex gene (dsxF) and thus to female ...
František Marec, Atsuo Yoshido, Arjen E. van′t Hof   +2 more
wiley   +1 more source

Deleterious c-Cbl Exon Skipping Contributes to Human Glioma

Neoplasia: An International Journal for Oncology Research, 2015
c-Cbl, a RING-type ubiquitin E3 ligase, downregulates various receptor tyrosine kinases (e.g., epidermal growth factor receptor (EGFR)), leading to inhibition of cell proliferation.
Min Woo Seong, Seung Hyeun Ka, Ji Ho Park, Jong Ho Park, Hee Min Yoo, Seung Wook Yang, Jung Mi Park, Dongeun Park, Soon Tae Lee, Jae Hong Seol, Chin Ha Chung   +10 more
doaj   +1 more source

Advances and Future Perspectives for the Management of Non‐Small Cell Lung Cancer in Australia: A Narrative Review

Asia-Pacific Journal of Clinical Oncology, EarlyView.
Lung cancer remains Australia's leading cause of cancer death. With new screening and evolving therapies, equitable access and workforce readiness are essential. This review discusses current and emerging treatments for NSCLC in Australia, clinical trials underway, and future directions in delivering optimal, accessible care nationwide.
Lauren Julia Brown, Graham Meredith, Bo Gao, Pei Ding, Harriet Gee, Inês Pires da Silva, Adnan Nagrial, Eric Hau   +7 more
wiley   +1 more source

CRISPR/Cas9-mediated genome editing induces exon skipping by alternative splicing or exon deletion

Genome Biology, 2017
CRISPR is widely used to disrupt gene function by inducing small insertions and deletions. Here, we show that some single-guide RNAs (sgRNAs) can induce exon skipping or large genomic deletions that delete exons. For example, CRISPR-mediated editing of β-
Haiwei Mou, Jordan L. Smith, Lingtao Peng, Hao Yin, Jill Moore, Xiao-Ou Zhang, Chun-Qing Song, Ankur Sheel, Qiongqiong Wu, Deniz M. Ozata, Yingxiang Li, Daniel G. Anderson, Charles P. Emerson, Erik J. Sontheimer, Melissa J. Moore, Zhiping Weng, Wen Xue   +16 more
doaj   +1 more source

Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG‐TOP2 Study

Cancer Science, EarlyView.
In the JCCG‐TOP2 nationwide pediatric cancer genomic profiling study, 204 patients' tumors and peripheral blood from 50 institutions across Japan were successfully analyzed using a dual DNA/RNA panel. A total of 147 (72%) had potentially actionable findings, including diagnostic, prognostic, and therapeutic findings in 111 (54%), 61 (30%), and 64 (31%),
Kayoko Tao, Takako Yoshioka, Miho Kato, Kazuyuki Komatsu, Shinichi Tsujimoto, Kenichi Sakamoto, Kazuki Tanimura, Minako Sugiyama, Masahiro Sekiguchi, Yoshiko Nakano, Yoshihiro Otani, Yasushi Yatabe, Akihiko Yoshida, Hajime Okita, Junko Hirato, Kenichi Kohashi, Yukichi Tanaka, Shinji Kohsaka, Takashi Kubo, Kuniko Sunami, Makoto Hirata, Shuichi Tsutsumi, Hiroyuki Aburatani, Katsuyoshi Koh, Masahiro Hirayama, Shuhei Karakawa, Yukayo Terashita, Hiroyuki Fujisaki, Takeshi Yagi, Akihiro Yoneda, Shinji Mochizuki, Hiroyuki Shichino, Tatsuya Suzuki, Tetsuya Takimoto, Koichi Ichimura, Chitose Ogawa, Kimikazu Matsumoto, Hitoshi Ichikawa, Motohiro Kato   +38 more
wiley   +1 more source

Regulation of R‐Loop Dynamics by Proteins and Long Noncoding RNAs: An Emerging Paradigm for Cancer Treatment

Cancer Science, EarlyView.
R‐loops are three‐stranded nucleic acid structures whose dysregulation leads to genomic instability and cancer progression. This review summarizes the protein and lncRNA machineries that regulate R‐loop dynamics and discusses the therapeutic potential of targeting these pathways in cancer.
Miho M. Suzuki, Keiko Shinjo, Tatsunori Nishimura, Yutaka Kondo   +3 more
wiley   +1 more source