Results 51 to 60 of about 2,516,365 (158)

Decreased levels of vitamin B6 vitamers in aldh7a1 knock-out 11 dpf embryos relative to age-matched wildtype control embryos.

, 2021
Vitamin B6 vitamers levels are reduced in aldh7a1 homozygous knock-out embryos relative to the wildtype. It is shown in a scatterplot of quantification of the levels of vitamin B6 vitamers in aldh7a1 homozygous knock-out zebrafish relative to the ...
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

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

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +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

Aldh7a1 is important for optic fissure closure.

, 2014
(A–D) Injection of Aldh7a1 morpholino results in failure of optic fissure to close at 28 hpf and sustained at 5 dpf. (A) Eye of control morpholino (MO) injected embryo at 28 hpf, (B) Eye of aldh7a1 morphant at 28 hpf; (C) Ventral view of eye in control ...
Chad Brocker (184166), Brian P. Brooks (366590), Ramakrishna P. Alur (366582), Susan Vitale (594543), Mones Abu-Asab (80768), Holly E. Babcock (594541), Vasilis Vasiliou (184172), Sunit Dutta (594542)   +7 more
core   +1 more source

Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9

, 2023
Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine-dependent epilepsy (PDE). ALDH7A1 encodes for the third enzyme of the lysine catabolism pathway.
Ka M. Wu, Nael Nadif Kasri, Clara D.M. van Karnebeek, Imke M.E. Schuurmans, Alejandro Garanto   +4 more
core   +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

Comprehensive Network-Based Analyses Reveal Novel Renal Function-Related Targets in Acute Kidney Injury

Frontiers in Genetics, 2022
Background: Acute kidney injury (AKI) is a common clinical syndrome with limited methods of treatment and diagnosis. Although several molecules associated with AKI have been discovered, molecular mechanisms underlying AKI still remain unclear.
Yang Zhang, Jieru Cai, Jieru Cai, Jieru Cai, Jieru Cai, Wei Lu, Sujuan Xu, Mengdi Qu, Shuan Zhao, Shuan Zhao, Shuan Zhao, Shuan Zhao, Xiaoqiang Ding, Xiaoqiang Ding, Xiaoqiang Ding, Xiaoqiang Ding   +15 more
doaj   +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