Results 81 to 90 of about 127,256 (329)

Detection of inversion with breakpoints in ARSB causing MPS VI by whole-genome sequencing: lessons learned and best practices

Frontiers in Genetics
IntroductionMucopolysaccharidosis type VI (MPSVI), an autosomal recessive lysosomal storage disorder caused by pathogenic variants in ARSB gene. Usually, whole exome sequencing (WES) can identify these variants, and if WES failed to detect causative ...
Yufeng Huang, Wenyue Deng, Hui Huang, Xiankai Zhang, Xiaohong Chen, Jian Ye, Sukun Luo, Ting Yu, Hui Yao, Hao Du, Xuelian He   +10 more
doaj   +1 more source

Extinctions of aculeate pollinators in Britain and the role of large-scale agricultural changes [PDF]

, 2014
Pollinators are fundamental to maintaining both biodiversity and agricultural productivity, but habitat destruction, loss of flower resources, and increased use of pesticides are causing declines in their abundance and diversity. Using historical records
Biesmeijer, H. Erenler, J. Ollerton, M. Edwards, Muggeo, Potts, R. Crockett, Thomas, Wedin   +8 more
core   +1 more source

Mitigating Cell Cycle Effects in Multi‐Omics Data: Solutions and Analytical Frameworks

Advanced Science, EarlyView.
The study highlights the cell‐cycle effects on multi‐omics analysis attributed to varying cell cycle compositions across cell types. To minimize the influence, we propose RTD correction in CNV calling with a high S‐phase ratio, and phase comparison in chromatin accessibility, DNA methylation, and transcriptomics.
Rui Nie, Caihong Zheng, Likun Ren, Yue Teng, Yaoyu Sun, Lifei Wang, Junya Li, Jun Cai   +7 more
wiley   +1 more source

Solving the continuous nonlinear resource allocation problem with an interior point method

, 2013
Resource allocation problems are usually solved with specialized methods exploiting their general sparsity and problem-specific algebraic structure. We show that the sparsity structure alone yields a closed-form Newton search direction for the generic ...
Rohal, James J., Wright, Stephen E.
core   +1 more source

Pharmacokinetic/pharmacodynamic integration and modelling of oxytetracycline for the porcine pneumonia pathogens Actinobacillus pleuropneumoniae and Pasteurella multocida [PDF]

, 2017
Pharmacokinetic–pharmacodynamic (PK/PD) integration and modelling were used to predict dosage schedules of oxytetracycline for two pig pneumonia pathogens, Actinobacillus pleuropneumoniae and Pasteurella multocida.
Aliabadi, Aliabadi, Blondeau, Brentnall, Brentnall, Cadwell, Dorey, Honeyman, Illambas, Illambas, Jong, Lees, Lees, Lees, Lees, Martinez, Mouton, Mouton, Nielsen, Nielsen, Nightingale, Nouws, Nouws, Nyberg, Papich, Potter, Rey, Sidhu, Sidhu, Toutain, Toutain, Toutain, Toutain, Vilalta, Yoshimura   +34 more
core   +1 more source

Price Transmission During Promotions: A Case Study of Spanish Milk Brands

Agribusiness, EarlyView.
ABSTRACT Price promotion is the marketing tool typically used by retail brands to boost sales and gain market share. In this paper, we intend to investigate the price transmission mechanism among competitive brands in Spain when price reductions that are associated with price promotions take place.
Yasmine Bedoui, Yan Jin, José María Gil   +2 more
wiley   +1 more source

Multicluster Distributed Optimization Strategy for Turbine Wake Environment

Advanced Intelligent Systems, EarlyView.
This article studies the wake analysis of wind farms in different aspects, including basic methods, clustering optimization, and wake optimization. Through multiclustering, the wake optimization in a specific wind farm environment is explored. And focusing on the time cost and other issues that need to be solved in practical applications, targeted ...
Zhenping Yu, Xinmeng Zhou, Yedong Huang, Kunyu Zhou, Guangming Cui, Juntian Qu   +5 more
wiley   +1 more source

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

BCR (breakpoint cluster region) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Review on BCR (breakpoint cluster region), with data on DNA, on the protein encoded, and where the gene is implicated.
openaire   +3 more sources

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source