Results 201 to 210 of about 103,802 (248)

Ion Activation Methods for Top‐Down Proteomics

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Mass spectrometry (MS) has emerged as a premier method used to characterize the sequences of proteins. Top‐down proteomics aims to capture the multiple sources of structural diversity reflected in proteins, such as those that arise from alternative RNA splicing events or the addition of post‐translational modifications. Tandem MS (i.e., MS/MS)
Jada N. Walker, Jennifer S. Brodbelt
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

Breakage-Fusion-Bridge Events Trigger Complex Genome Rearrangements and Amplifications in Developmentally Arrested T Cell Lymphomas.

Cell Rep, 2019
Bianchi JJ, Murigneux V, Bedora-Faure M, Lescale C, Deriano L.   +4 more
europepmc   +1 more source

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Genome architecture, rearrangements and genomic disorders

Trends in Genetics, 2002
An increasing number of human diseases are recognized to result from recurrent DNA rearrangements involving unstable genomic regions. These are termed genomic disorders, in which the clinical phenotype is a consequence of abnormal dosage of gene(s) located within the rearranged genomic fragments.
James R Lupski, Pawel Stankiewicz
exaly   +3 more sources

Genome Rearrangements and Sorting by Reversals

SIAM Journal on Computing, 1996
Summary: Sequence comparison in molecular biology is in the beginning of a major paradigm shift -- a shift from gene comparison based on local mutations (i.e., insertions, deletions, and substitutions of nucleotides) to chromosome comparison based on global rearrangements (i.e., inversions and transpositions of fragments).
Pavel Pevzner, Vineet Bafna
exaly   +2 more sources

Multiple Genome Rearrangement By Reversals [PDF]

Biocomputing 2002, 2001
In this paper, we discuss a multiple genome rearrangement problem: Given a collection of genomes represented by permutations, we generate the collection from some fixed genome, e.g., the identity permutation, in a minimum number of signed reversals. It is NP-hard, so efficient heuristics is important for finding its optimal solution.
Shiquan Wu, Xun Gu 0002
openaire   +2 more sources

Genome Rearrangement with ILP

IEEE/ACM Transactions on Computational Biology and Bioinformatics, 2018
The weighted Genome Sorting Problem (wGSP) is to find a minimum-weight sequence of rearrangement operations that transforms a given gene order into another given gene order using rearrangement operations that are associated with a predefined weight. This paper presents a polynomial sized Integer Linear Program -called GeRe-ILP- for solving the wGSP for
Tom Hartmann, Nicolas Wieseke, Roded Sharan, Martin Middendorf, Matthias Bernt   +4 more
openaire   +2 more sources

Parametric genome rearrangement

Gene, 1996
Algorithms inspired by comparative genomics calculate an edit distance between two linear orders based on elementary edit operations such as inversion, transposition and reciprocal translocation. All operations are generally assigned the same weight, simply by default, because no systematic empirical studies exist verifying whether algorithmic outputs ...
M, Blanchette, T, Kunisawa, D, Sankoff
openaire   +2 more sources