Results 161 to 170 of about 173,056 (260)

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

What Does Bacteria Have to Do with Cancer? The Influence of the Body's Microbiota on Cancer in Cats and Dogs. [PDF]

Int J Mol Sci
Kasperska P, Horodyska I, Mateja J, Sobierajewicz A, Miszczak M, Bierowiec K, Bubak J.   +6 more
europepmc   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Efficacy of genetically modified Mycoplasma hyopneumoniae strains and their effect on local and cell-mediated immune responses in pigs. [PDF]

Vet Res
Beuckelaere L, Boyen F, Auray G, Haspeslagh M, De Coensel E, Trueeb BS, Meyer E, Haesebrouck F, De Spiegelaere W, Devriendt B, Summerfield A, Kuhnert P, Maes D.   +12 more
europepmc   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

From "synthetic" to defined microbial communities for clearer terminology. [PDF]

Nat Commun
Koch H, Clavel T, Mayr C, Coltman BL, Schloter M, Vorholt JA, Sanz Y, Cernava T, Beattie GA, Lange L, Chaillou S, Kovács ÁT, Smidt H, Pieterse CMJ, Kostic T, Finkel OM, Lawson CE, Cocolin L, Mercado-Blanco J, Finn RD, Papadopoulou KK, Ryan M, Candela M, Cotter PD, Berg G, O'Sullivan O, Delgado-Baquerizo M, Trivedi P, Charles TC, Singh BK, Brader G, Marian M, Sessitsch A.   +32 more
europepmc   +1 more source

Uncovering G Protein‐Coupled Receptors: Novel Targets and Biomarkers for Predicting Glioma Prognosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Low‐grade gliomas (LGG) exhibit significant heterogeneity and recurrence risk. G protein‐coupled receptors (GPCR) contribute to glioma malignant progression, but their prognostic value remains unclear. This work attempts to formulate a GPCR‐based outcome‐predicting model for LGG. Methods Based on TCGA LGG data, the enrichment scores
Jun Yang, Dongxu Zhang, Dongyuan Liu, Da Lin, Hao Wang   +4 more
wiley   +1 more source

Safety evaluation of the food enzyme subtilisin from the genetically modified <i>Bacillus licheniformis</i> strain NZYM-PD. [PDF]

EFSA J
EFSA Panel on Food Enzymes (FEZ), Zorn H, Baviera JMB, Bolognesi C, Catania F, Gadermaier G, Greiner R, Mayo B, Mortensen A, Roos YH, Solano MLM, Van Loveren H, Vernis L, Andreoli C, Terron A, Andryszkiewicz M, Liu Y.   +16 more
europepmc   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Safety and efficacy of a feed additive consisting of riboflavin 80% (vitamin B₂) produced with <i>Saccharomyces cerevisiae</i>ATCC SD-8628 for all animal species (Amyris Inc). [PDF]

EFSA J
EFSA Panel on Additives and Products or Substances used in Animal Feed (FEEDAP), Villa RE, Azimonti G, Bonos E, Christensen H, Durjava M, Dusemund B, Gehring R, Glandorf B, Kouba M, López-Alonso M, Marcon F, Martelli G, Nebbia C, Pechová A, Prieto-Maradona M, Theodoridou K, Yurkov A, Mayo B, Brozzi R, Galobart J, Pettenati E, Vettori MV, Pizzo F.   +23 more
europepmc   +1 more source