Results 211 to 220 of about 672,835 (295)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Long-read sequencing unmasks a cryptic three-way translocation resulting in an ETV6::PDGFRB fusion. [PDF]

Mol Cytogenet
Tripodi J, Tremblay D, Ahire D, Najfeld V.   +3 more
europepmc   +1 more source

Monocyte LOXHD1 and RHOB Expression Predictive of Progressive Systemic Sclerosis–Associated Interstitial Lung Disease

Arthritis Care &Research, EarlyView.
Objective A leading cause of death among patients with scleroderma (SSc), interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M. Padilla, Robert Lafyatis, Kevin F. Gibson, Christina Morse, Eleanor Valenzi, Xiaoping Chen, Xiaoyun Li, Yanwu Zhao, Yongseok Park, Dana Ascherman, Jonathan Minden, Robyn Domsic, Yingze Zhang, Daniel J. Kass   +13 more
wiley   +1 more source

Profiling Epigenetic Aging at Cell-Type Resolution Through Long-Read Sequencing. [PDF]

Aging Cell
Eames A, Moqri M, Poganik JR, Gladyshev VN.   +3 more
europepmc   +1 more source

Knee Crepitus and Osteoarthritis Features in Young Adults Following Traumatic Knee Injury

Arthritis Care &Research, EarlyView.
Objective This study explored the association between knee crepitus and the presence, and worsening, of structural osteoarthritis features and self‐reported outcomes in young adults following traumatic knee injury. Methods One year following anterior cruciate ligament reconstruction (ACLR), 112 participants (41 female participants; median age 28 years ...
Jamon L. Couch, Brooke E. Patterson, Kay M. Crossley, Ali Guermazi, Matthew G. King, Danilo De Oliveira Silva, Jackie L. Whittaker, Michael A. Girdwood, Adam G. Culvenor   +8 more
wiley   +1 more source

Hybridization capture long-read sequencing and de novo assembly of homologous haplotypes: a comprehensive hemophilia test. [PDF]

Blood Adv
Liu B, Xu R, Ma S, Gu M, Kong L, Zhou L, Liu H, Chen S, Yang Y, Yu Z, Liang B, Jiang M.   +11 more
europepmc   +1 more source

Effect of Foot Orthoses on Midfoot Pain and the Volume of Bone Marrow Lesions in the Midfoot: A Randomized Mechanism of Action Study

Arthritis Care &Research, EarlyView.
Objective Foot orthoses are thought to improve pain by potentially modifying internal mechanical forces. To test this, we explored whether foot orthoses can modify patterns of bone marrow lesions (BMLs) in people with midfoot pain. Methods Forty‐two people were recruited with midfoot pain, and magnetic resonance imaging–confirmed midfoot BMLs ...
Jill Halstead, Anne‐Maree Keenan, Philip G. Conaghan, Dennis McGonagle, Anthony C. Redmond   +4 more
wiley   +1 more source

Methodological Comparison of Short-Read and Long-Read Sequencing Methods on Colorectal Cancer Samples. [PDF]

Int J Mol Sci
Szakállas N, Kalmár A, Rada KR, Kucarov M, Linkner TR, Barták BK, Takács I, Molnár B.   +7 more
europepmc   +1 more source

Unlocking the Power of Quercetin‐Encapsulated Mesoporous Bioactive Glass Nanoparticles: A Multifunctional Approach to Bone Regeneration

Advanced Engineering Materials, EarlyView.
Mesoporous bioactive glass nanoparticles (MBGNs) are investigated for bone regeneration given their remarkable structural and functional properties. MBGNs are functionalized with Mn and Cu and incorporated with quercetin, a natural flavonoid exhibiting antioxidant, anti‐inflammatory, and antimicrobial properties.
Giovanni Lo Bello, Qaisar Nawaz, Pier Francesco Ferrari, Laura Pastorino, Roberto Raiteri, Aldo R. Boccaccini   +5 more
wiley   +1 more source