Results 251 to 260 of about 191,946 (295)

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

DCMS analysis revealed differential selection signatures in the transboundary Sahiwal cattle for major economic traits. [PDF]

Sci Rep
Muansangi L, Tiwari J, Ilayaraja I, Kumar I, Vyas J, Chitra A, Singh SP, Pal P, Gowane G, Mishra AK, Mukherjee A, Mukherjee S.   +11 more
europepmc   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

Whole genome resequencing reveals genetic diversity, population structure, and selection signatures in local duck breeds. [PDF]

BMC Genomics
Ren P, Peng Y, Yang L, Khan MZ, Jing Y, Qi C, Liu Z, Zhang S, Zheng N, Zhang M, Liu X, Zhu Z, Zhu M.   +12 more
europepmc   +1 more source

Prognostic Value of Neurofilament Light Chain and Glial Fibrillary Acidic Protein in ALD‐Related Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak, Marije M. C. Voermans, Hans Heijst, Charlotte E. Teunissen, Marc Engelen   +4 more
wiley   +1 more source

Whole-genome sequencing reveals genetic architecture and selection signatures of Kazakh cattle. [PDF]

Zool Res
Niyazbekova Z, Xu Y, Qiu M, Wang HP, Primkul I, Nanaei HA, Ussenbekov Y, Kassen K, Liu Y, Gao CY, Akhmetsadykova S, Ruzikulov N, Jiang Y, Cai YD.   +13 more
europepmc   +1 more source

Understanding Further the Phenotypic Spectrum of Central Nervous System Inflammatory Demyelinating Disorders Using Unsupervised Clustering

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec, Elif Everest, Melih Tutuncu, Ugur Bilge, Sabahattin Saip, Ugur Uygunoglu, Aksel Siva   +6 more
wiley   +1 more source

Whole-genome sequencing of Tahe red deer (<i>Cervus hanglu yarkandensis</i>) reveals genetic diversity and selection signatures. [PDF]

Front Vet Sci
Pi T, Yi W, Mao Z, Wang Z, Sun H, Yan S.
europepmc   +1 more source

Independent origins and non-parallel selection signatures of triclabendazole resistance in Fasciola hepatica. [PDF]

Nat Commun
Choi YJ, Rosa BA, Fernandez-Baca MV, Ore RA, Martin J, Ortiz P, Hoban C, Cabada MM, Mitreva M.   +8 more
europepmc   +1 more source

Insights into trait-association of selection signatures and adaptive eQTL in indigenous African cattle. [PDF]

BMC Genomics
Friedrich J, Liu S, Fang L, Prendergast J, Wiener P.   +4 more
europepmc   +1 more source