Results 181 to 190 of about 239,120 (310)

Generation of Casp8FL122/123GG Mice Using CRISPR-Cas9 Technology

STAR Protocols, 2020
Summary: The purpose of this protocol is to describe the generation of missense mutations in mice using CRISPR-Cas9 technology. The current protocol focuses on the generation of a Casp8FL122/123GG missense mutation, but it can be adapted to introduce any
Stephane Pelletier, Bart Tummers, Douglas R. Green   +2 more
doaj  

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome

Stem Cell Research
X-linked Ohdo syndrome is a heterogenous group of disorders characterized by intellectual disability and typical facial features including blepharophimosis.
Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida   +3 more
doaj  

Compound heterozygosity of a De novo 16q24.1 deletion and missense mutation in COX4I1 leads to developmental regression, intellectual disability, and seizures

Epilepsia Open, EarlyView.
Abstract The COX4I1 is responsible for encoding a crucial component of cytochrome c oxidase, integral to electron transport in the mitochondrial respiratory chain. Mutations in COX4I1 can result in a rare autosomal recessive disorder characterized by growth retardation, slow weight gain, microcephaly, and potentially, hematologic symptoms such as ...
Zhen Liu, Mei He, Xuan Luo, Hu Pan, Xiao Mao, Jinping Su   +5 more
wiley   +1 more source

Phenotype and surgical management of drug‐resistant epilepsy in patients with COL4A1 and COL4A2 variants

Epilepsia Open, EarlyView.
Abstract Objective To summarize the clinical features of collagen type IV alpha 1/2 chain (COL4A)1/2‐related epilepsy and the seizure outcomes of patients undergoing epilepsy surgery. Methods We retrospectively analyzed the clinical, electroencephalography, and neuroimaging data; genetic characteristics; surgical details; and prognosis of 8 patients (4
Jie Shi, Jiuluan Lin, Jianjun Bai, Haixiang Wang, Bingqing Zhang, Qian Feng, Zhaohui Sun, Yiou Liu, Jing He, Xiancheng Song, Siyu Wang, Xiaoyan Liu, Wenjing Zhou   +12 more
wiley   +1 more source

Decreased homovanillic acid and 5‐hydroxyindoleacetic acid levels in the cerebrospinal fluid of patients with Dravet syndrome with parkinsonism

Epilepsia Open, EarlyView.
Abstract Dravet syndrome (DS) is an early onset, developmental, and epileptic encephalopathy characterized by drug‐resistant seizures and multiple comorbidities. It has been reported that in adulthood, it may be accompanied by parkinsonism, but the pathogenesis of this condition remains unclear.
Ryo Sugiyama, Takashi Saito, Atsuko Katsumoto, Shota Yoneno, Tomoyuki Akiyama, Hirofumi Komaki   +5 more
wiley   +1 more source

Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish [PDF]

, 2017
Gao, Meng, Hu, Xuebin, Jiang, Tao, Li, Chang, Liu, Fei, Liu, Jing Yu, Liu, Mugen, Liu, Xiliang, Lu, Zhaojing, Shu, Xinhua, Soares, Dinesh C., Tang, Zhaohui, Weng, Jun, Xiao, Qing, Yang, Lifang, Yu, Shanshan   +15 more
core   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Missense-Mutation [PDF]

, 2018
openaire   +1 more source

The impact of missense mutations on human behavior

Brain Research Bulletin, 2012
Mohajeri, M. Hasan, Giese, K. Peter
openaire   +4 more sources