Results 11 to 20 of about 260,369 (317)

Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1910-1917, December 2022., 2022
Abstract Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early ...
Xiaochen Han, Feixia Zhan, Yuxin Yao, Li Cao, Jianguo Liu, Sheng Yao   +5 more
wiley   +1 more source

COVID‐19 and the risk of Alzheimer's disease, amyotrophic lateral sclerosis, and multiple sclerosis

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1953-1961, December 2022., 2022
Abstract Background The coronavirus disease 2019 (COVID‐19) pandemic has had an unprecedented impact on the healthcare system, economy, and society. Studies have reported that COVID‐19 may cause various neurologic symptoms, including cognitive impairment.
Hanyu Zhang, Zengyuan Zhou
wiley   +1 more source

Association between SORL1 polymorphisms and the risk of Alzheimer's disease [PDF]

Journal of Integrative Neuroscience, 2018
A meta-analysis was performed to identify empirical data assessing the effects of a single nucleotide polymorphisms of sortilin-related receptor on Alzheimer's disease based on 14 studies involving 37941 cases and 49727 control studies. Analysis showed, (
Lele Cong, Xiangyi Kong, Jing Wang, Jianshi Du, Zhongxin Xu, Yanan Xu, Qing Zhao
doaj   +1 more source

Collective Variables for Conformational Polymorphism in Molecular Crystals [PDF]

J. Phys. Chem. Lett. 2023, 14, 971, 2022
Controlling polymorphism in molecular crystals is crucial in the pharmaceutical, dye, and pesticide industries. However, its theoretical description is extremely challenging, due to the associated long timescales ($ > 1 \, \mu s$). We present an efficient procedure for identifying collective variables that promote transitions between conformational ...
arxiv   +1 more source

Impact of the Polymorphism of the PACRG and CD80 Genes on the Development of the Different Stages of Tuberculosis Infection [PDF]

Iranian Journal of Medical Sciences, 2019
Background: Tuberculosis (TB) is one of the most significant health-care problems worldwide. The host’s genetics play an important role in the development of TB in humans.
Elena Yu. Bragina, Nadezhda P. Babushkina, Anna F. Garaeva, Alexey A. Rudko, Dmitry Yu. Tsitrikov, Densema E. Gomboeva, Maxim B. Freidin   +6 more
doaj   +1 more source

Bulk segregant analysis using single nucleotide polymorphism microarrays. [PDF]

PLoS ONE, 2011
Bulk segregant analysis (BSA) using microarrays, and extreme array mapping (XAM) have recently been used to rapidly identify genomic regions associated with phenotypes in multiple species.
Anthony Becker, Dai-Yin Chao, Xu Zhang, David E Salt, Ivan Baxter   +4 more
doaj   +1 more source

Software for tag single nucleotide polymorphism selection

Human Genomics, 2005
This paper reviews the theoretical basis for single nucleotide polymorphism (SNP) tagging and considers the use of current software made freely available for this task. A distinction between haplotype block-based and non-block-based approaches yields two
Stram Daniel O
doaj   +1 more source

Identifying the similarities and differences between single nucleotide polymorphism array (SNPa) analysis and karyotyping in acute myeloid leukemia and myelodysplastic syndromes

Revista Brasileira de Hematologia e Hemoterapia, 2015
Objective: To standardize the single nucleotide polymorphism array (SNPa) method in acute myeloid leukemia/myelodysplastic syndromes, and to identify the similarities and differ- ences between the results of this method and karyotyping.
Thiago Rodrigo de Noronha, Sandra Serson Rohr, Maria de Lourdes Lopes Ferrari Chauffaille   +2 more
doaj   +1 more source

Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array

Haematologica, 2012
Background The recent advent of genome-wide molecular platforms has facilitated our understanding of the human genome and disease, particularly copy number aberrations.
Hee-Jin Kim, Duk-Kyung Kim, Ki-Young Yoo, Chur-Woo You, Jong-Ha Yoo, Ki-O Lee, In-Ae Park, Hae-Sun Choung, Hee-Jung Kim, Min-Jung Song, Sun-Hee Kim   +10 more
doaj   +1 more source

p53 codon 72 polymorphism in Taiwanese breast cancer patients

Kaohsiung Journal of Medical Sciences, 2013
There are clear discrepancies between ethnicity and geographic area regarding the peak age incidence and mortality of breast cancer. Underlying variances include genetic, environmental, and socioeconomic factors.
Fang-Ming Chen, Fu Ou-Yang, Sheau-Fang Yang, Eing-Mei Tsai, Ming-Feng Hou   +4 more
doaj   +1 more source