Results 151 to 160 of about 76,927 (296)

Cytological Identification of Chromosomal Rearrangements in Doritaenopsis and Phalaenopsis [PDF]

, 2007
artículo -- Universidad de Costa Rica. Escuela de Agronomía, 2007. Este documento es privado debido a limitaciones de derechos de autor.This study investigated the impact of gross chromosomal rearrangements, specifically translocations and inversions, on
Bolaños Villegas, Pablo Alberto, Chen, Fure-Chyi   +1 more
core  

Calpain Proteases and the Evolving Signaling Network in Insect Embryonic Patterning

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
Insect embryonic Dorsal‐Ventral (DV) patterning relies on the BMP and Toll pathways to different extents. Calcium‐dependent cystein proteases of the Calpain family also exert an important function to pattern the DV axis. In Drosophila, Calpain A cleaves the Cactus/IkappaB inhibitor and modifies Toll signals in ventral regions of the embryo. In Rhodnius
Alison Julio, Helena Araujo
wiley   +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

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

The Impact of Chromosomal Rearrangements in Speciation: From Micro- to Macroevolution. [PDF]

Cold Spring Harb Perspect Biol, 2023
Lucek K, Giménez MD, Joron M, Rafajlović M, Searle JB, Walden N, Westram AM, Faria R.   +7 more
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

Chromosomal rearrangements: tempo and mode of karyotype evolution in Scarabaeoidea. [PDF]

J Evol Biol
Chien S, Blackmon H.
europepmc   +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

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