Results 141 to 150 of about 63,140 (263)

A de novo complex chromosome rearrangement associated with multisystematic abnormalities, a case report. [PDF]

Mol Cytogenet, 2017
Tian C, Li D, Liu P, Jiao L, Gao X, Qiao J.   +5 more
europepmc   +1 more source

KMT5C‐Mediated H4K20me3 Recruits EWSR1 to Propel Clear Cell Renal Cell Carcinoma Progression via Regulating ACADM Transcription and m6A Modification

Med Research, EarlyView.
A schematic diagram illustrating the KMT5C‐H4K20me3‐EWSR1‐ACADM signaling axis and its role in ccRCC progression. Key Outcomes: KMT5C/H4K20me3 are upregulated in ccRCC and predict poor prognosis. EWSR1 is a novel noncanonical H4K20me3 reader in ccRCC. KMT5C/EWSR1 co‐repress ACADM via transcription and m6A modification. A‐196 + sunitinib synergistically
Chengjian Ji, Da Zhong, Tian Rao, Xiaojun Li, Weiyu Kong, Xi Zhang, Xiyi Wei, Bing Yao, Xinqiang Li, Ninghong Song, Chao Qin   +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

Oxidative stress-induced chromosome breaks within the ABL gene: a model for chromosome rearrangement in nasopharyngeal carcinoma. [PDF]

Hum Genomics, 2018
Tan SN, Sim SP, Khoo AS.
europepmc   +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

Deciphering the Code of the Cancer Genome: Mechanisms of Chromosome Rearrangement. [PDF]

Trends Cancer, 2015
Willis NA, Rass E, Scully R.
europepmc   +1 more source

Hemoglobin Lepore‐Boston‐Washington: A Rare Cause of Unmeasurable HbA1c and Diagnostic Challenge in Diabetes

Journal of Clinical Laboratory Analysis, EarlyView.
Filippo Russo, Silvia Trombetti, Maria Rosaria Storino, Raffaele Sessa, Carmela De Felice, Giuseppe Schiavone, Michela Grosso   +6 more
wiley   +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

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