Results 111 to 120 of about 51,568 (249)

The influence of balanced complex chromosomal rearrangements on preimplantation embryonic development potential and molecular karyotype. [PDF]

BMC Genomics, 2020
Li G, Shi W, Niu W, Xu J, Guo Y, Su Y, Sun Y.   +6 more
europepmc   +1 more source

Continuous Intrajejunal Levodopa–Carbidopa Infusion in Parkinson's Disease Associated with 22q11.2 Deletion Syndrome: A Case Series

Movement Disorders Clinical Practice, EarlyView.
Abstract Background 22q11.2 deletion syndrome (22q11DS) is a multisystem genetic disorder associated with a significantly increased risk of early‐onset Parkinson's disease (EOPD). Management is challenging because psychiatric and cognitive comorbidities often limit advanced therapies such as deep brain stimulation (DBS). Cases We report 2 patients with
Valle Victor Andrés, Jardel Amory, Hopes Lucie, Clément Guillemette, Lambert Laetitia, Becker Aurélie, Dexheimer Mylène, Bonnet Céline, Frismand Solène, Renaud Mathilde, Puisieux Salomé   +10 more
wiley   +1 more source

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

Movement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino, Melanie Brugger, Alice Saparov, Ivana Dzinovic, Philip Harrer, Sandy Lösecke, Kevork Derderian, Martin Pavlov, Robert Kopajtich, Holger Prokisch, Arcangela Iuso, Maria Mazurkiewicz‐Bełdzińska, Deike Weiss, Christina Ludwig, Miriam Abele, Julia Mergner, Juliane Winkelmann, Theresa Brunet, Michał Schinwelski, Elisabeth Graf, Katja Kloth‐Stachnau, Theresia Herget, Magdalena Krygier, Michael Zech   +23 more
wiley   +1 more source

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

The FGF/FGFR System in the Biology and Therapeutic Landscape of Pediatric CNS Tumors

Medicinal Research Reviews, EarlyView.
ABSTRACT Central nervous system (CNS) tumors are the most common solid malignancies in children, comprising a highly heterogeneous group of neoplasms defined by distinct molecular alterations and clinical behaviors. Advances in molecular genetics have underscored the relevance of specific signaling pathways in driving pediatric tumorigenesis, among ...
Serena Filiberti, Camilla Tavani, Elena Somenza, Nicolas Tassone, Antonio d'Amati, Marta Turati, Roberto Ronca   +6 more
wiley   +1 more source

Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients. [PDF]

Front Genet, 2020
Xiao B, Ye X, Wang L, Fan Y, Gu X, Ji X, Sun Y, Yu Y.   +7 more
europepmc   +1 more source

Boronic Acid Inhibitors of β‐Lactamases: A Promising Strategy Against Antimicrobial Resistance

Medicinal Research Reviews, EarlyView.
ABSTRACT The rise of antimicrobial resistance (AMR) poses a critical threat to global health, mostly due to the proliferation of β‐lactamases, a class of enzymes responsible for the inactivation of β‐lactam antibiotics. Among the most promising strategies to restore β‐lactam efficacy is the use of β‐lactamase inhibitors (BLIs), with boronic acid ...
Nicolò Santi, Federico Corsini, Robert A. Bonomo, Emilia Caselli, Fabio Prati   +4 more
wiley   +1 more source

ISAba1‐mediated crp‐osmC amplification enhances host‐associated fitness in Acinetobacter baumannii

mLife, EarlyView.
Abstract Acinetobacter baumannii is a pathogen, highly adaptable to both hospital‐ and host‐associated environments. Understanding the genetic mechanisms underlying its adaptability is critical for controlling its persistence. Our study identified the crp‐osmC gene cluster, flanked by ISAba1 elements, as a significant genetic structure undergoing ...
Da‐Wei Wei, Jiangqing Huang, Hailing Fang, Xinyu Wang, Gang Zhang, Chao Wang, Yuqin Song, Jie Feng   +7 more
wiley   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Time‐Resolved Effects of Cold Atmospheric Plasma on E. coli GW‐AmxH19 Transcriptome and Proteome in an Emulated Wastewater Environment

PROTEOMICS, EarlyView.
ABSTRACT Cold atmospheric plasma (CAP) is effective against a variety of microorganisms. Here, we described effects on an Escherichia coli strain isolated from hospital wastewater caused by treatment with physical plasma. E. coli GW‐AmxH19 was incubated in artificial wastewater and treated for 15 min with CAP.
Jörg Bernhardt, Dominik Schneider, Julia Rielicke, Susanne Sievers, Veronika Hahn, Mechthild Bömeke, Anja Poehlein, Dirk Albrecht, Juergen F. Kolb, Katharina Riedel, Rolf Daniel, Daniela Zühlke   +11 more
wiley   +1 more source