Results 41 to 50 of about 725,686 (267)

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Long-read sequencing reveals novel structural variation markers for key agronomic and quality traits of food-grade soybean

Frontiers in Plant Science
Long read sequencing has been widely used to detect structure variations that are not captured by short read sequencing in plant genomic research.
Zhibo Wang, Kassaye Belay, Kassaye Belay, Joe Paterson, Patrick Bewick, William Singer, Qijian Song, Bo Zhang, Song Li   +8 more
doaj   +1 more source

MATCHCLIP: Locate precise breakpoints for copy number variation using CIGAR string by matching soft clipped reads

Frontiers in Genetics, 2013
Copy number variations (CNVs) are associated with many complex diseases. Next generation sequencing data enable one to identify precise CNV breakpoints to better under the underlying molecular mechanisms and to design more efficient assays.
Yinghua eWu, Lifeng eTian, Mario ePirastu, Dwight eStambolian, Hongzhe eLi   +4 more
doaj   +1 more source

SINE Insertion in the Intron of Pig GHR May Decrease Its Expression by Acting as a Repressor

Animals, 2021
The genetic diversity of the GH/IGF axis genes and their association with the variation of gene expression and phenotypic traits, principally represented by SNPs, have been extensively reported.
Cai Chen, Yao Zheng, Mengli Wang, Eduard Murani, Enrico D’Alessandro, Ali Shoaib Moawad, Xiaoyan Wang, Klaus Wimmers, Chengyi Song   +8 more
doaj   +1 more source

The (Glg)ABCs of cyanobacteria: modelling of glycogen synthesis and functional divergence of glycogen synthases in Synechocystis sp. PCC 6803

FEBS Letters, EarlyView.
We reconstituted Synechocystis glycogen synthesis in vitro from purified enzymes and showed that two GlgA isoenzymes produce glycogen with different architectures: GlgA1 yields denser, highly branched glycogen, whereas GlgA2 synthesizes longer, less‐branched chains.
Kenric Lee, Dimitrios Bekiari, Sofia Doello, Karl Forchhammer   +3 more
wiley   +1 more source

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

FEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai, Mizuki Seo, Gyath Karadsheh, Fachrur Rizal Mahendra, Máté Á Demény, Ferenc Győry, János András Mótyán, László Fésüs, Endre Kristóf, Rini Arianti   +9 more
wiley   +1 more source

Towards a 'canonical' agranular cortical microcircuit

Frontiers in Neuroanatomy, 2015
Based on regularities in the intrinsic microcircuitry of cortical areas, variants of a 'canonical' cortical microcircuit have been proposed and widely adopted, particularly in computational neuroscience and neuroinformatics.
Sarah F. Beul, Claus C. Hilgetag, Claus C. Hilgetag   +2 more
doaj   +1 more source

The planar cell polarity protein Vangl2 interacts with the PDZ‐domains of Scribble but not with a unique PDZ‐like domain in Inturned

FEBS Letters, EarlyView.
Structural and biochemical characterisations show that the planar cell polarity (PCP) protein Inturned harbours a unique PDZ‐like domain that does not bind canonical PDZ‐binding motifs (PBMs) like that of another PCP protein Vangl2. In contrast, the apical‐basal polarity protein Scribble contains four PDZ domains that bind Vangl2, but one PDZ domain ...
Stephan Wilmes, Jan Brysch, Carmen Gelze, Lilli Meier, Daniel Kümmel   +4 more
wiley   +1 more source

Structural Variations Associated with Adaptation and Coat Color in Qinghai‐Tibetan Plateau Cattle

Advanced Science
Structural variations (SVs) play crucial roles in the evolutionary adaptation of domesticated animals to natural and human‐controlled environments, but SVs have not been explored in Tibetan cattle, which recently migrated and rapidly adapted to the high ...
Xiaoting Xia, Fuwen Wang, Xiaoyu Luo, Shuang Li, Yang Lyu, Yining Zheng, Zhijie Ma, Kaixing Qu, Rende Song, Jianyong Liu, Jicai Zhang, Basang Wangdui, Basang Zhuzha, Suolang Quji, Li Zhao, Silang Wangmu, Ciren Luobu, Nima Cangjue, Danzeng Luosang, Suolang Sizhu, Haijian Cheng, Ruizhe Li, Zhipeng Wu, Ruihua Dang, Yongzhen Huang, Xianyong Lan, Luohao Xu, Haifei Hu, WaiYee Low, Zhuqing Zheng, Yu Wang, Yuanpeng Gao, Lu Deng, Johannes A. Lenstra, Jianlin Han, Xueyi Yang, Wenfa Lyu, Bizhi Huang, Chuzhao Lei, Ningbo Chen   +39 more
doaj   +1 more source

Genome-wide association analyses reveal copy number variant regions associated with reproduction and disease traits in Canadian Holstein cattle

Journal of Dairy Science
: This study aimed to evaluate the impact of copy number variants (CNV) on 13 reproduction and 12 disease traits in Holstein cattle. Intensity signal files containing log R ratio and B allele frequency information from 13,730 Holstein animals genotyped ...
Hinayah Rojas de Oliveira, Tatiane C.S. Chud, Gerson A. Oliveira, Jr., Isis C. Hermisdorff, Saranya G. Narayana, Christina M. Rochus, Adrien M. Butty, Francesca Malchiodi, Paul Stothard, Filippo Miglior, Christine F. Baes, Flavio S. Schenkel   +11 more
doaj   +1 more source