Results 131 to 140 of about 47,109 (297)

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

How does the efficiency of Nanopore compare to Illumina sequencing in tracking the spread of aquatic invasive species?

Water Biology and Security
eDNA-based methods offer a non-invasive, easy-to-use approach for monitoring aquatic biodiversity, particularly for tracking invasive or cryptic species.
Théo Deremarque, Rodolphe Elie Gozlan, Ravo Ravaozafindrasoa, Giuliano Mucci, Lucie Delalex, Jean-Michel Foissy, Michaël Cagnant, Mathieu Clair, Justina Givens, Fabienne Justy, Alice Valentini, Delphine Nicolas, Pascal Contournet, Claire Tetrel, Marc Thibault, Marine Combe   +15 more
doaj   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Case Report: Nanopore Sequencing-Based Detection of Pulmonary Nocardiosis Caused by Nocardia Otitidiscaviarum in an Immunocompetent Patient [PDF]

Dan Li,1,* Qing Liu,2,* Xiaotong Xi,2 Zhen Huang,1 Chi Zhu,2 Ran Ding,2 Qi Zhang1 1Department of Respiratory, Xuzhou Central Hospital, Xuzhou, Jiangsu, People’s Republic of China; 2Jiangsu Simcere Diagnostics Co., Ltd., Nanjing Simcere Medical ...
Xi X, Ding R, Li D, Huang Z, Liu Q, Zhang Q, Zhu C   +6 more
core   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Modified Titanium Dental Implants: The Current Progress of Soft‐Tissue Integration Methods

Advanced NanoBiomed Research, EarlyView.
Dental implants are an established solution for tooth loss, yet achieving soft tissue integration (STI) around the transmucosal region remains a challenge. The natural tooth–gingiva interface is poorly replicated on titanium implants. This review explores surface modification strategies, ranging from surface chemistry and topography to biological ...
Daniel De Maria, Amy Gelmi, Peter C. Sherrell, Stefan Di Medio, Nhiem Tran, Kate Fox   +5 more
wiley   +1 more source

Can Electroosmosis help with nanopore sequencing? [PDF]

, 2022
B. Morozzo della Rocca, M. Chinappi, G. Di Muccio   +2 more
core  

How useful is Nanopore adaptive sampling for sequencing Schistosoma mansoni miracidia? [PDF]

Background - Whole-genome sequencing (WGS) is now widely used in helminth genomics. Whilst adult worms typically provide sufficient DNA for molecular analyses, for some helminths of public health significance, such as Schistosoma spp., adult stages are ...
Lim, Rivka
core   +1 more source

An information theory approach to quantifying the sequence-dependent response of nucleic acid motors with applications to nanopore DNA sequencing

Nature Communications
Motor enzymes that interact with DNA are essential for replicative biological processes. In nanopore sequencing, a motor enzyme controls the motion of a nucleic acid through a protein nanopore, and sequence-dependent blockages of an ion current flowing ...
Jonathan M. Craig, Andrew H. Laszlo, Henry Brinkerhoff, Christopher A. Thomas, Sinduja K. Marx, Eric F. Lebo, Sarah J. Abell, Michaela C. Franzi, Jesse R. Huang, Hwanhee C. Kim, Jessica D. Carrasco, Jens H. Gundlach   +11 more
doaj   +1 more source

Synergistic Physicochemical Inhibition of Reactive Shale Formations Using Hydrothermally Synthesized Hydroxyapatite Nickel Tungstate Nanocomposites in Water‐Based Drilling Fluids

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Wellbore instability driven by the volumetric expansion of reactive shale formations remains a primary operational challenge in modern drilling engineering, causing severe mechanical failures and substantial economic deficits. The objective of this study is to formulate and evaluate a novel dual‐action chemical additive capable of ...
Ghaleb Oriquat, Basim Abdul Alrhym, A. C. Umamaheshwer Rao, Shivam P. Chaudhary, Pardeep Singh Bains, Ripendeep Singh, Murotov Nurshod, Rasulbek Eshmetov, Ahmad Abumalek   +8 more
wiley   +1 more source