Results 41 to 50 of about 2,516,365 (158)

Primers required for the amplification of the human ALDH7A1 gene.

, 2014
Primers required for the amplification of the human ALDH7A1 gene.
Xiaoling Yang (27940), Yuwu Jiang (330637), Zhixian Yang (541835), Yuehua Zhang (541836), Hui Xiong (541837), Ye Wu (171928), Jiong Qin (541838), Jingmin Wang (171933)   +7 more
core   +1 more source

Association analysis of polymorphic variants in ALDH7A1, AOC1, PSAP, ADCYAP1 genes involved in the histamine metabolism with asthma development in individuals from the republic of Bashkortostan

Якутский медицинский журнал
Many environmental and genetic factors are involved in asthma development, among which an important role in the disease formation and response to antihistamine therapy belongs to genes involved in the histamine metabolism (HRH1, HRH2, HRH3, HRH4, HDC ...
O. N. Savelieva, A. S. Karunas, Yu. Yu. Fedorova, A. O. Vlasova, A. R. Biktasheva, R. F. Gatiyatullin, E. I. Etkina, E. K. Khusnutdinova   +7 more
doaj   +1 more source

Association of the CCR5 gene with juvenile idiopathic arthritis [PDF]

, 2010
The CC chemokine receptor 5 (CCR5) has been shown to be important in the recruitment of T-helper cells to the synovium, where they accumulate, drive the inflammatory process and the consequent synovitis and joint destruction.
Martin, P., BSPAR Study Group, Barton, A., UKRAG Consortium, Worthington, J., Gardner-Medwin, J. [CAPS and BSPAR Study Groups], Thomson, W., W Thomson, Flynn, E., A Hinks, E Flynn, J Packham, Packham, J., Hinks, A., S Eyre, J Worthington, Eyre, S.; id_orcid, Eyre, S., Barton, A.; id_orcid, P Martin, Childhood Arthritis Prospective Study (CAPS), Martin, P.; id_orcid, A Barton   +22 more
core   +1 more source

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

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

Molecular Genetics and Metabolism Reports, 2016
We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative ...
B. Jaeger, N.G. Abeling, G.S. Salomons, E.A. Struys, M. Simas-Mendes, V.G. Geukers, B.T. Poll-The   +6 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

Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology. [PDF]

, 2017
Pyridoxine dependent epilepsy (PDE) is caused by likely pathogenic variants in ALDH7A1 (PDE-ALDH7A1) and inherited autosomal recessively. Neurotoxic alpha-amino adipic semialdehyde (alpha-AASA), piperideine 6-carboxylate and pipecolic acid accumulate in ...
Garrett Bullivant, Zheng Ping Jia, Matilde Fernandez Ojeda, Bullivant, Garrett, Mercimek-Andrews, Saadet, Salomons, Gajja S., Zabinyakov, Nikita, Fernandez Ojeda, Matilde, James J. Dowling, Saadet Mercimek-Andrews, Wen, Xiao Yan, Gajja S. Salomons, James J Dowling, Jia, Zheng Ping, Nikita Zabinyakov, Gajja S Salomons, Cao, Feng, Xiao-Yan Wen, Feng Cao, Dowling, James J.   +19 more
core   +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

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