Results 251 to 260 of about 12,972,158 (310)

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

Benzo[b]fluoranthene Induces Mutation Accumulation and Cancer-Relevant Mutational Signatures in Mouse Lung Alongside Steady State Levels of Chromosome Damage in Blood. [PDF]

Environ Mol Mutagen
Zhang X, Hobbs CA, Rivas MV, Diesing A, LeBlanc DPM, Zhou G, Foley JF, White PA, Marchetti F, Yauk CL, Smith-Roe SL.   +10 more
europepmc   +1 more source

Tracking NF-kB activity across steady-state neutrophil maturation. [PDF]

Cell Death Discov
Jeffries NE, Floyd DJ, Mei S, Sykes DB, Mansour MK.   +4 more
europepmc   +1 more source

Metabolic, V̇O₂ kinetics, and muscle oxygenation responses at and above maximal lactate steady state in trained male rowers. [PDF]

Physiol Rep
Trevisol L, Borszcz FK, de Lucas RD, Turnes T.   +3 more
europepmc   +1 more source

Using Steady-State Visual Evoked Potentials to Characterize Wide-Ranging Retinopathy Linked to <i>CRB1</i>: Implications for Clinical Trials. [PDF]

Comput Struct Biotechnol J
Stäubli KE, Pabst M, O Maimon-Mor R, Rodriguez-Martinez AC, Scholte HS, Moosajee M, Dekker TM.   +6 more
europepmc   +1 more source

KeySDL: sparse dictionary learning for keystone microbe identification from steady-state observations using a dynamical-systems model. [PDF]

BioData Min
Gordon M, Akyol TY, Amos B, Andersen SU, Williams C.   +4 more
europepmc   +1 more source

Inflammatory signatures during the steady state of sickle cell disease in African children

Allotey EA, Adedia D, Amponsah JA, Boakye AA, Frimpong A, Gyamfi J, Ninsin E, Offei H, Kwansa-Bentum H, Kpeli GS, Tetteh JKA, Amegan-Aho KH, Atadja PW, Mosi L, Duedu KO.   +14 more
europepmc   +1 more source