Results 51 to 60 of about 2,694,828 (149)

Identification of genes related to beak deformity of chickens using digital gene expression profiling. [PDF]

PLoS ONE, 2014
Frequencies of up to 3% of beak deformity (normally a crossed beak) occur in some indigenous chickens in China, such as and Beijing-You. Chickens with deformed beaks have reduced feed intake, growth rate, and abnormal behaviors. Beak deformity represents
Hao Bai, Jing Zhu, Yanyan Sun, Ranran Liu, Nian Liu, Dongli Li, Jie Wen, Jilan Chen   +7 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Refractory Seizures in a Neonate with a Rare Coexistence of Variants in Both ALDH7A1 and RHOBTB2 Genes

Indian Pediatrics Case Reports
Background: Pyridoxine-dependent epilepsy due to ALDH7A1 gene mutation is a known, but rare autosomal recessive disorder, presenting with early-onset, refractory seizures.
Kavya Rajanna, Mohit Ajmera, Swati Mehta, J. Suraj Kumar   +3 more
doaj   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

mtDNA amount is not significantly reduced in aldh7a1 knock-out zebrafish.

, 2021
qPCR graph of mtDNA amount from wildtype (Wildtype, black circles) and aldh7a1 homozygous knock-out (aldh7a1 knock-out, grey squares) zebrafish embryos, demonstrating only a slight reduction in mtDNA copy number in knock-out relative to the wildtype ...
Anastasia Minenkova (11408438), Rob Barto (11408447), Saadet Mercimek-Andrews (4526929), Thomas Hurd (11408450), Erwin E. W. Jansen (11408441), Jessie Cameron (11408444), Gajja S. Salomons (4526917), Lauren MacNeil (397730)   +7 more
core   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

RNA-Seq Revealed the Molecular Mechanism of Nutritional Quality Improvement in o16-wx Double-Mutation Maize

Agriculture, 2023
The enhancement of the nutritional composition of maize grains could be achieved by the introduction of a mutation with a heightened lysine content. To obtain double-recessive mutant lines for the o16 and wx genes, a molecular-marker-assisted selection ...
Zhoujie Ma, Peizhen Wu, Lei Deng, Kaiwu Zhang, Wenpeng Yang, Hong Ren, Li Song, Wei Wang   +7 more
doaj   +1 more source

Decoding Dual Regulatory Layers: Integrating Differential Expression and Alternative Splicing Dynamics in the Evolution of Laryngeal Echolocation Across Chiropteran Lineages

Integrative Zoology, EarlyView.
We integrated short‐read and long‐read RNA‐seq data from cochlear tissues of echolocating and non‐echolocating bats to disentangle transcriptional and post‐transcriptional regulation. Echolocating bats showed neural‐function enrichment among differentially expressed genes, while alternatively spliced genes were linked to epigenetic regulation. Overlaps
Jianyu Wu, Daoyuan Hu, Min Chen, Xiuguang Mao   +3 more
wiley   +1 more source

Excessive training does not induce mitochondrial dysfunction or impair insulin signalling within skeletal muscle

The Journal of Physiology, EarlyView.
Abstract figure legend Three weeks of overtraining in trained endurance athletes reduced exercise performance without impairing glucose tolerance. In skeletal muscle, overtraining was associated with increased expression of lipid metabolism‐related proteins, enhanced mitochondrial biogenesis and preserved insulin signalling, despite elevated oxidative ...
Geneviève J. DesOrmeaux, Henver S. Brunetta, Pierre‐Andre Barbeau, Alexandra M. Coates, Christopher Pignanelli, Fasih A. Rahman, Jamie F. Burr, Graham P. Holloway   +7 more
wiley   +1 more source

Pyridoxine dependent epilepsies: new therapeutical point of view

Italian Journal of Pediatrics, 2017
Pyridoxine dependent epilepsies (PDEs) are rare autosomal recessive disorders with onset in neonatal period. Seizures are typically not responsive to conventional antiepileptic drugs, but they cease after parental pyridoxine administration.
Raffaele Falsaperla, Giovanni Corsello
doaj   +1 more source