Results 181 to 190 of about 103,351 (258)

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

Mass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik, Petr Lapcik, Pavla Bouchalova, Pavel Bouchal   +3 more
wiley   +1 more source

Targeted analysis of whole exome sequencing in Thai patients with neonatal diabetes. [PDF]

Hum Genet
Plengvidhya N, Tangjarusritaratorn T, Teerawattanapong N, Narkdontri T, Innang S, Songlilitchuwong S, Suthon S, Tangjittipokin W.   +7 more
europepmc   +1 more source

Multiomics Insights Into AL Amyloidosis

Medicine Bulletin, EarlyView.
ABSTRACT Light chain amyloidosis is a systemic or localized protein conformational disorder triggered by misfolded immunoglobulin light chains, leading to amyloid fibril deposition. The disease is characterized by multiorgan involvement and delayed diagnosis, contributing to poor prognosis and high mortality rates.
Zixuan Zhang, Ziru Huang, Haoxiang Tang, Xianrun Pan, Rong Wang, Dingding Zhang, Jian Huang   +6 more
wiley   +1 more source

Genomic characterization of pulmonary sarcomatoid adenocarcinoma: a paired whole-exome sequencing study of carcinomatous and sarcomatous components. [PDF]

Front Oncol
Lin J, Yang Y, Liu M, Yang F, Jiang S, Xu L, Zheng X, Wei H, Wen X, Xu G, Weng R, Zheng J, Xiao S.   +12 more
europepmc   +1 more source

Correction: Genetic variations associated with immediate hypersensitivity reactions to iodinated contrast media: A whole exome sequencing study. [PDF]

PLoS One
PLOS One Staff.
europepmc   +1 more source

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

Unmasking rare thalassemia variants through whole-exome sequencing in Huadu District, China: An observational study. [PDF]

Medicine (Baltimore)
Guowei R, Yan J, Jingxia X, Changlv J, Lihua Z, Bizhen Y, Jingnan B, Cuijin T, Yulan H, HaoHao L, Linhua J.   +10 more
europepmc   +1 more source

Whole-exome sequencing illuminates unexplained pediatric cholestatic liver disease. [PDF]

World J Hepatol
Yodoshi T.
europepmc   +1 more source

Functional network analysis in hepatolithiasis: identifying novel therapeutic targets through whole-exome sequencing. [PDF]

PeerJ
Tang D, Gu X, Liu D, Yang J, Zhao L.
europepmc   +1 more source