Results 141 to 150 of about 312,657 (243)

REAPER: a project-centric workflow layer for comparative repeatome analysis. [PDF]

Front Plant Sci
Ulyanov DS, Yurkina AI, Voronezhskaya VS, Ulyanova AA, Kroupin PY, Divashuk MG.   +5 more
europepmc   +1 more source

Understanding and Mitigating the Risk of Accelerated Biological Aging in Survivors of Cancer: A Scoping Review

Aging and Cancer, EarlyView.
Cancer treatment is associated with measurable acceleration of biological aging across epigenetic, telomere, senescence, and immune biomarkers. However, biomarker validation and interventional strategies remain limited, especially in hematologic malignancies, underscoring the need for standardized multi‐omic aging assessments and adequately powered ...
Moataz Ellithi, Emily Herdman, Danielle Westmark, Vijaya R. Bhatt   +3 more
wiley   +1 more source

<i>Mycobacterium abscessus</i> soft tissue infections associated with subcutaneous injection of lipolytic agents: An outbreak report and novel molecular epidemiology analysis approach. [PDF]

Can Commun Dis Rep
Quan-Nguyen X, Waglechner N, Veillette M, Vasil PA, Point F, Tannir B, Zarandi-Nowroozi M, Tsimiklis C, Pétrin N, Teltscher M, Urbanek A, Akochy PM, Cox J, Lee R, Lapierre SG.   +14 more
europepmc   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Draft whole-genome sequence of <i>Aureobasidium pullulans</i> Y2311-1, a producer of poly(β-L-malic acid). [PDF]

Microbiol Resour Announc
Tang H, Xue T, Xu T, Chen J, Fu M, Jiang Y, Tang W, Guo J.   +7 more
europepmc   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Peer Review Report For: Negligible effects of read trimming on the accuracy of germline short variant calling in the human genome [version 1; peer review: 2 approved with reservations]

Xihao Li, Muqing Zhou
openaire   +2 more sources

Draft genome sequences of 14 bacterial isolates from the rhizosphere of bioenergy sorghum. [PDF]

Microbiol Resour Announc
Black G, Couvillion S.
europepmc   +1 more source

Peer Review Report For: Lessons learned: overcoming common challenges in reconstructing the SARS-CoV-2 genome from short-read sequencing data via CoVpipe2 [version 1; peer review: 1 approved, 1 approved with reservations]

, 2023
openaire   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source