Results 81 to 90 of about 2,516,365 (158)

Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria

BMC Neurology
Background Pyridoxine-dependent epilepsy is primarily characterized by early-onset refractory seizures. This condition can be caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency due to a mutation in the ALDH7A1 gene, leading to the ...
Rida Jaber, Hadi Salame, Mostafa Zeindeen, Ali Jawad, Hassan Fawaz, Diana Alasmar   +5 more
doaj   +1 more source

SIGNIFICANCE OF TARGETED EXOME SEQUENCING AND METHODS OF DATA ANALYSIS IN THE DIAGNOSIS OF GENETIC DISORDERS LEADING TO THE DEVELOPMENT OF EPILEPTIC ENCEPHALOPATHY

Journal of Bioinformatics and Genomics, 2017
Epilepsy is the most common serious neurological disorder, and there is a genetic basis in almost 50% of people with epilepsy. The diagnosis of genetic epilepsies makes to estimate reasons of seizures in the patient.
Tatyana Victorovna Kozhanova
doaj   +1 more source

Gene Therapy for Allergic Diseases

, 2010
Allergic diseases, such as allergic asthma, allergic rhinitis, atopic dermatitis, conjunctivitis, urticaria, food allergy, and/or anaphylaxis, are associated with the skewing of immune responses towards a T helper 2 ( TH2) phenotype, resulting in ...
莊雅惠;楊曜旭;江伯倫, CHUANG, YA-HUI;YANG, YAO-HSU;CHIANG, BOR-LUEN   +1 more
core   +1 more source

Cancer stem cell-related gene expression as a potential biomarker of response for first-in-class imipridone ONC201 in solid tumors.

PLoS ONE, 2017
Cancer stem cells (CSCs) correlate with recurrence, metastasis and poor survival in clinical studies. Encouraging results from clinical trials of CSC inhibitors have further validated CSCs as therapeutic targets. ONC201 is a first-in-class small molecule
Varun V Prabhu, Amriti R Lulla, Neel S Madhukar, Marie D Ralff, Dan Zhao, Christina Leah B Kline, A Pieter J Van den Heuvel, Avital Lev, Mathew J Garnett, Ultan McDermott, Cyril H Benes, Tracy T Batchelor, Andrew S Chi, Olivier Elemento, Joshua E Allen, Wafik S El-Deiry   +15 more
doaj   +1 more source

Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragility

eLife
Heritable fragile bone disorders (FBDs), ranging from multifactorial to rare monogenic conditions, are characterized by an elevated fracture risk. Validating causative genes and understanding their mechanisms remain challenging.
Sophie Debaenst, Tamara Jarayseh, Hanna De Saffel, Jan Willem Bek, Matthieu Boone, Ivan Josipovic, Pierre Kibleur, Ronald Y Kwon, Paul J Coucke, Andy Willaert   +9 more
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Expression pattern of genetic eye development markers in control and aldh7a1 morphant embryos.

, 2014
(A) Expression of nlz1 in optic fissure is down-regulated in (B) aldh7a1 morphant fish. vax2 and pax2.1 do not seem to show significant change in expression between control MO (C,E) and nlz1 morphant (D, F) fish. (G) Co-injection of nlz1 mRNA resulted in
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

Screening and validation of reference genes for quantitative real-time PCR in Polygonatum hunanense

Medicinal Plant Biology
Polygonatum hunanense H.H. Liu & B.Z. Wang (syn. P. kingianum var. grandifolium), is a perennial Liliaceae species with ethnopharmaceutical and nutraceutical value. It exhibits traditional medicinal properties such as qi-tonifying, yin-nourishing, kidney-
Chensi Tan, Xia Qin, Qian Xiao, Runcheng Zhang, Caiyun Peng, Wei Wang, Luyun Ning, Limin Gong   +7 more
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Metabolomics analysis of kidney, brain, liver, and plasma from Aldh7a1-/- and Aldh7a1+/+ mice.

Metabolite analysis of kidney, brain, liver, and plasma isolated from Aldh7a1+/+ and Aldh7a1-/- (n=3/each) fed diets consisting of 0.9% w/w lysine and 18 ppm pyridoxine.
Parker, S (via Mendeley Data)
core   +1 more source

Evolutionary conservation of four novel ALDH7A1 missense mutations identified in Chinese PDE patients.

, 2014
Evolutionary conservation of four novel ALDH7A1 missense mutations identified in Chinese PDE patients.
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

Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature

The Turkish Journal of Pediatrics, 2015
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive enzyme defect in the vitamin B6 metabolism characterized by intractable seizures which are usually resistant to all antiepileptic drugs but respond to pharmacological doses of ...
Gülen Gül-Mert, Faruk İncecik, M Özlem Hergüner, Serdar Ceylaner, Şakir Altunbaşak   +4 more
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