Results 131 to 140 of about 49,802 (297)

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis [PDF]

, 2010
The finding of TDP-43 as a major component of ubiquitinated protein inclusions in amyotrophic lateral sclerosis (ALS) has led to the identification of 30 mutations in the transactive response-DNA binding protein (TARDBP) gene, encoding TDP-43.
A Yokoseki, BA Hosler, C Lomen-Hoerth, C Vance, Christopher J. McDermott, D Neary, DR Rosen, E Buratti, E Buratti, E Kabashi, Emily F. Goodall, F Gros-Louis, GM Ringholz, H Daoud, Hannah C. Hollinger, I Gijselinck, IF Wang, IR Mackenzie, J Kirby, J Sreedharan, J. Robin Highley, Janine Kirby, JJ Kew, Judith A. Hartley, Karen E. Morrison, L Benajiba, L Corrado, M Morita, M Neumann, MJ Strong, MJ Winton, NJ Rutherford, P Kuhnlein, PA Mercado, Pamela J. Shaw, Paul G. Ince, PM Andersen, R Bo Del, R Lemmens, Rachel Hibberd, RJ Guerreiro, Rudo Masanzu, SH Ou, Stephen B. Wharton, VM Deerlin Van, William Smith, YM Ayala   +46 more
core   +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

Splice site mutation in the human protein C gene associated with venous thrombosis: demonstration of exon skipping by ectopic transcript analysis [PDF]

, 1993
Bent Lind, WW van Solinge, M. Schwartz, S Thorsen   +3 more
openalex   +1 more source

Lipid Nanoparticles for Delivery of CRISPR Gene Editing Components

Small Methods, EarlyView.
The review presents a comprehensive overview of each component of lipid nanoparticles（LNPs）and their effects on editing efficiency. It specifically highlights strategies for achieving non‐liver delivery, aiming for broader applications in gene editing. Furthermore, this review summarizes the applications of LNPs in gene editing and offers insights for ...
Fan Wu, Nei Li, Yudian Xiao, Rohan Palanki, Hannah Yamagata, Michael J. Mitchell, Xuexiang Han   +6 more
wiley   +1 more source

Bi‐Allelic DSG1 Splice‐Site Variant Identified in a Family With Non‐Syndromic Striate Palmoplantar Keratoderma

The Journal of Dermatology, EarlyView.
ABSTRACT Hereditary palmoplantar keratoderma (PPK) involves hyperkeratosis of the palmoplantar skin and belongs to the palmoplantar epidermal differentiation disorders (pEDDs). One causal gene is Desmoglein 1 (DSG1), which encodes a protein crucial for epidermal integrity. Monoallelic DSG1 variants cause mild, non‐syndromic PPK, whereas bi‐allelic DSG1
Sohail Ahmed, Nicole Cesarato, Ye Li, Xing Xiong, Kifayat Ullah, Hammal Khan, Muhammad Javed Khan, Holger Thiele, Wasim Ahmad, Muhammad Sharif Hasni, Regina C. Betz   +10 more
wiley   +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

Contribution of chloride channels to the action potential and contraction in human myometrium during labour

British Journal of Pharmacology, EarlyView.
Background and purpose The action potential underpinning calcium delivery for contraction in human uterine smooth muscle (myometrium) consists of an initial spike(s) followed by a prolonged plateau of depolarization to ⁓ −25 mV. The plateau duration establishes contraction duration, especially important in labour.
Helena C. Parkington, Ranga E. Siriwardhana, Mary A. Tonta, Shaun P. Brennecke, Penelope M. Sheehan, Marianne Tare, Harold A. Coleman   +6 more
wiley   +1 more source

A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV. [PDF]

, 1993
J. C. Lloyd, P Narcisi, Allan J. Richards, F M Pope   +3 more
openalex   +1 more source

Comparative Analysis of a Dual DNA–RNA Panel and a DNA‐Only Panel for Sarcoma: Real‐World Data From a Nationwide Genomic Database

Cancer Science, EarlyView.
Dual DNA–RNA panel with matched tumor–normal testing may improve diagnostic accuracy and inform treatment decisions in the routine clinical management of sarcoma. ABSTRACT Next‐generation sequencing‐based comprehensive cancer genomic profiling is promising in cancer management; however, most studies rely on tumor‐only DNA panels from single ...
Eiji Nakata, Kiichiro Ninomiya, Tatsunori Osone, Daisuke Ennishi, Shuta Tomida, Tomohiro Fujiwara, Toshiyuki Kunisada, Mashu Futagawa, Akira Hirasawa, Shinichi Toyooka, Toshifumi Ozaki   +10 more
wiley   +1 more source

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity

Clinical Genetics, EarlyView.
A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis, Afrodite Kampouraki, Danai Veltra, Faidon‐Nikolaos Tilemis, Maria Vasilopoulou, Aikaterini Dokou, Elissavet Georgiadou, Euthalia Karavergou, Maria Christolouka, Alexis Alexopoulos, Dimitra Kirillidi, Maria Goudesidou, Konstantina Kosma, Christalena Sofocleous, Periklis Makrythanasis   +14 more
wiley   +1 more source