Results 251 to 260 of about 390,492 (308)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Deciphering <i>cis</i>-regulatory elements using REgulamentary. [PDF]

Bioinform Adv
Riva SG, Sanders E, Georgiades E, Venkatesh SS, Sergeant M, Ravza Gür E, Herrmann JC, Baxter M, Baxter M, Hughes JR.   +9 more
europepmc   +1 more source

Efficacy of Intermittent Theta‐Burst Stimulation for Prolonged Disorders of Consciousness: A Prospective, Randomized, Controlled Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu, Jun Hu, Qianqian Wu, Min Wu, Yamei Yu, Hangcheng Li, Jian Gao, Jingqi Li, Nai Ding, Jie Yu, Benyan Luo   +10 more
wiley   +1 more source

Telomere-to-telomere genome assemblies and population resequencing of diploid and allotetraploid peanut varieties. [PDF]

Nat Genet
Bian J, Zhang Y, Ding S, Guo H, Li K, Guan Y, Zhou G, Li J, Garg V, Cui Y, Lv Y, Chitikineni A, Meng Q, Li T, He L, Zhao C, Wang X, Tang R, Zhang L, Deng XW, Varshney RK, He H, Liu X.   +22 more
europepmc   +1 more source

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source

Genomic Context and Insert Orientation in the Regulation of Transgene Expression in Adenoviral Vectors. [PDF]

Int J Mol Sci
Muravyeva A, Smirnikhina S.
europepmc   +1 more source

Quorum sensing regulators AphA and HapR differentially regulate fluvibactin biosynthesis in <i>Vibrio fluvialis</i>. [PDF]

Front Microbiol
Cheng Q, Han Y, Wang K, Ji S, Li X, Qin A, Xiao Y, Liang W, Kan B.   +8 more
europepmc   +1 more source

Transposon-based genome editing of industrial microorganisms: advances, challenges, and prospects. [PDF]

Synth Syst Biotechnol
Zhang Z, Huang Z, Wang Y, Li Z, Wen Z, Gu Y.   +5 more
europepmc   +1 more source

Variations in DNA Methylation Are Landmarks of Freshwater Adaptation in Three-Spined Sticklebacks. [PDF]

Int J Mol Sci
Starshin A, Mazur A, Mugue N, Kaplun D, Golden A, Khrameeva E, Prokhortchouk E.   +6 more
europepmc   +1 more source

Increased hydrogen and ethanol production in transformants of the filamentous cyanobacterium Phormidium lacuna. [PDF]

Arch Microbiol
Spohrer N, Reinicke F, Malik S, Tarakji R, Weber N, Lamparter T.   +5 more
europepmc   +1 more source