Results 31 to 40 of about 151,372 (221)

Behavioral Phenotypes of Disc1 Missense Mutations in Mice [PDF]

Neuron, 2007
To support the role of DISC1 in human psychiatric disorders, we identified and analyzed two independently derived ENU-induced mutations in Exon 2 of mouse Disc1. Mice with mutation Q31L showed depressive-like behavior with deficits in the forced swim test and other measures that were reversed by the antidepressant bupropion, but not by rolipram, a ...
Yoshiyuki Sakuraba, Fumiaki Ogawa, Keith Trimble, Steven J. Clapcote, J. Kirsty Millar, Shaun Mackie, R. Mark Henkelman, Tatiana V. Lipina, John C. Roder, John C. Roder, Miles D. Houslay, John G. Sled, Sheila Christie, Masashi Uchiyama, Toshihiko Shiroishi, Yoichi Gondo, Hideki Kaneda, David J. Porteous, Jason P. Lerch   +18 more
openaire   +4 more sources

A missense mutation in ISPD contributes to maintain muscle fiber stability

Poultry Science, 2022
: Background: Livestock and poultry skeletal muscle development was regulated by a variety of genetic factors playing an essential role in this process.
Lijin Guo, Siyu Zhang, Yibin Xu, Yulin Huang, Wei Luo, Qi Wen, Guanxuan Liu, Weiling Huang, Haiping Xu, Biao Chen, Qinghua Nie   +10 more
doaj  

Generation of gene edited hiPSC from familial Alzheimer's disease patient carrying N141I missense mutation in presenilin 2

Stem Cell Research, 2021
Alzheimer's disease (AD) is the major cause of dementia worldwide. Early-onset familial AD accounts for about 0.5% of all AD and is caused by single major gene mutations and autosomal dominant inheritance.
Hany E. Marei, Asmaa Althani, Nahla Afifi, Anwarul Hasan, Thomas Caceci, Giacomo Pozzoli, Carlo Cenciarelli   +6 more
doaj  

Deciphering the Language of Nature: A transformer-based language model for deleterious mutations in proteins [PDF]

arXiv, 2021
Various machine-learning models, including deep neural network models, have already been developed to predict deleteriousness of missense (non-synonymous) mutations. Potential improvements to the current state of the art, however, may still benefit from a fresh look at the biological problem using more sophisticated self-adaptive machine-learning ...
arxiv  

Preliminary Report: Missense mutations in the APOL gene family are associated with end stage kidney disease risk previously attributed to the MYH9 gene [PDF]

Human Genetics, July 16 2010, 2010
MYH9 has been proposed as a major genetic risk locus for a spectrum of non-diabetic end stage kidney disease (ESKD). We use recently released sequences from the 1000 Genomes Project to identify two western African specific missense mutations (S342G and I384M) in the neighbouring APOL1 gene, and demonstrate that these are more strongly associated with ...
arxiv   +1 more source

Rare missense mutations in P2RY11 in narcolepsy with cataplexy [PDF]

Brain, 2017
The sleep disorder narcolepsy with cataplexy is characterized by a highly specific loss of hypocretin (orexin) neurons, leading to the hypothesis that the condition is caused by an immune or autoimmune mechanism. All genetic variants associated with narcolepsy are immune-related. Among these are single nucleotide polymorphisms in the P2RY11-EIF3G locus.
Degn, Matilda, Dauvilliers, Yves, Dreisig, Karin, Lopez, Régis, Pfister, Corinne, Pradervand, Sylvain, Rahbek Kornum, Birgitte, Tafti, Mehdi   +7 more
openaire   +3 more sources

The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals [PDF]

, 2020
A variety of missense mutations and a stop mutation in the gene coding for transmembrane protein 240 (TMEM240) have been reported to be the causative mutations of spinocerebellar ataxia 21 (SCA21). We aimed to investigate the expression of TMEM240 protein in mouse brain at the tissue, cellular, and subcellular levels. Immunofluorescence labeling showed
arxiv   +1 more source

Impact of missense mutations on biosynthesis of myeloperoxidase

Redox Report, 2000
We have examined the biosynthesis of normal and mutant forms of myeloperoxidase (MPO) in order to gain insights into the critical features of normal biogenesis of MPO. The expression of wild-type and mutant forms of MPO in a stably transfected cell line devoid of endogenous MPO as well as in established human promyelocytic cell lines has allowed ...
William M. Nauseef, Melissa Goedken, Sally McCormick   +2 more
openaire   +3 more sources

Analyses of a Novel L130F Missense Mutation in FOXC1 [PDF]

Archives of Ophthalmology, 2007
To understand how the novel L130F mutation, found in 2 patients with Axenfeld-Rieger syndrome, disrupts function of the forkhead box C1 protein (FOXC1).Sequencing DNA from patients with Axenfeld-Rieger syndrome identified a novel missense mutation that results in an L130F substitution in the FOXC1 gene.
Ito, Yoko A., Footz, Tim K., Murphy, Tara C., Courtens, Winnie, Walter, Michael A.   +4 more
openaire   +3 more sources

A novel mutation in the tropomyosin 1 gene in a Chinese patient with hypertrophic cardiomyopathy

All Life, 2022
Hypertrophic cardiomyopathy (HCM) is an inherited heart disease characterized by left ventricular hypertrophy. Although sarcomeric gene mutations can explain many HCM cases, the genetic basis of approximately half of HCM cases remains elusive.
Ke Gong, Qin Wu, Ting Xie, Yong Luo, Hui Guo, Zhiping Tan, Jinlan Chen, Yifeng Yang, Li Xie   +8 more
doaj   +1 more source