Results 171 to 180 of about 239,120 (310)

Dosage‐dependent effects of FGFR2W290R mutation on craniofacial shape and cellular dynamics of the basicranial synchondroses

The Anatomical Record, EarlyView.
Abstract Craniosynostosis is a common yet complex birth defect, characterized by premature fusion of the cranial sutures that can be syndromic or nonsyndromic. With over 180 syndromic associations, reaching genetic diagnoses and understanding variations in underlying cellular mechanisms remains a challenge.
Heather A. Richbourg, Marta Vidal‐García, Katherine A. Brakora, Jay Devine, Risa Takenaka, Nathan M. Young, Siew‐Ging Gong, Amanda Neves, Benedikt Hallgrímsson, Ralph S. Marcucio   +9 more
wiley   +1 more source

Emergence of Staphylococcus aureus Resistance to Antimicrobial Peptides Nisin, NZ2114 and Bacitracin Involves Multiple Phenotypic Changes

Animal Research and One Health, EarlyView.
The AMP‐induced mutant Staphylococcus aureus strain nzR showed increased resistance, five gene mutations, and decreased surface anion levels. AMPs affect the NDH‐2 protein encoded by ndh gene inhibiting the growth of S. aureus. The deletion of the ndh gene promotes the development of AMPs resistance.
Lingyu Xiao, Xingyuan Ma, Ping Tian, Lianbin Li, Zafir Muhammad, Xiaokun Wang, Xuemei Xue, Jinhe Xiao, Liangjun Zheng, F. A. El‐Gohary, Xin Zhao, Junning Pu, Huping Xue   +12 more
wiley   +1 more source

VEPerform: a web resource for evaluating the performance of variant effect predictors [PDF]

arXiv
Computational variant effect predictors (VEPs) are providing increasingly strong evidence to classify the pathogenicity of missense variants. Precision vs. recall analysis is useful in evaluating VEP performance, especially when adjusted for imbalanced test sets.
arxiv  

Comparative Analysis of Phenotypic and Genotypic Differences Between Individuals Affected by Regressive and Non‐Regressive Autism: A Cross‐Sectional Study

Autism Research, EarlyView.
ABSTRACT Development among autistic youth varies widely. A subgroup of children experiences regression, defined as the loss of previously acquired developmental skills. Various genetic and environmental factors have been suggested as potential contributors.
Seyed Hassan Tonekaboni, Alana Iaboni, Brett Trost, Miriam Reuter, Zsuzsa Lindenmaier, Azadeh Kushki, Elizabeth Kelley, Jessica Jones, Muhammed Ayub, Stelios Georgiades, Robert Nicolson, Elim Chan, Andrada Cretu, Jessica Brian, Evdokia Anagnostou   +14 more
wiley   +1 more source

Creating A Course Based Undergraduate Research Experience (CURE) Genetics Yeast Laboratory Course at Xavier University of Louisiana

Biochemistry and Molecular Biology Education, EarlyView.
ABSTRACT Course‐based undergraduate research experiences (CUREs) are important for providing undergraduates with authentic research experiences. At Xavier University of Louisiana, a Genetics Laboratory CURE course was developed and implemented. The goals of developing this Genetics CURE laboratory course were: (1) to provide a large number of students ...
Joanna E. Haye‐Bertolozzi, Cecily B. DeFreece, Christopher Bolden, Kalila Daveron, Hector Biliran   +4 more
wiley   +1 more source

Extranodal diffuse large B‐cell lymphoma: Clinical and molecular insights with survival outcomes from the multicenter EXPECT study

Cancer Communications, EarlyView.
Abstract Background Diffuse large B‐cell lymphoma (DLBCL) is the most common subtype of aggressive non‐Hodgkin's lymphoma with distinct clinical and molecular heterogeneity. DLBCL that arises in extranodal organs is particularly linked to poor prognosis. This study aimed to determine the clinical and molecular characteristics of extranodal involvement (
Si‐Yuan Chen, Peng‐Peng Xu, Ru Feng, Guo‐Hui Cui, Li Wang, Shu Cheng, Rong‐Ji Mu, Hui‐Lai Zhang, Xiao‐Lei Wei, Yong‐Ping Song, Kai‐Yang Ding, Li‐Hua Dong, Zun‐Min Zhu, Shen‐Miao Yang, Xin Wang, Ting‐Bo Liu, Jian‐Da Hu, Xiao‐Yun Zheng, Ou Bai, Jing‐Yan Xu, Liang Huang, Wei Sang, Ke‐Qian Shi, Fan Zhou, Fei Li, Ai‐Bin Liang, Hui Zhou, Si‐Guo Hao, Hong‐Hui Huang, Bin Xu, Wen‐Bin Qian, Cai‐Xia Li, Zhi‐Ming Li, Chong‐Yang Wu, Xiao‐Bo Wang, Wen‐Yu Shi, Shu‐Ye Wang, Yu‐Yang Tian, Xi Zhang, Ke‐Shu Zhou, Li‐Juan Cui, Hui Liu, Huo Tan, Qing Leng, Dong‐Lu Zhao, Ting Niu, Wei‐Li Zhao   +46 more
wiley   +1 more source

MMT: Mutation Testing of Java Bytecode with Model Transformation -- An Illustrative Demonstration [PDF]

arXiv
Mutation testing is an approach to check the robustness of test suites. The program code is slightly changed by mutations to inject errors. A test suite is robust enough if it finds such errors. Tools for mutation testing usually integrate sets of mutation operators such as, for example, swapping arithmetic operators; modern tools typically work with ...
arxiv  

Is Mycobacterial InhA a Suitable Target for Rational Drug Design?

ChemMedChem, EarlyView.
InhA is the target of isoniazid, a first‐line antituberculosis drug. Isoniazid is, in fact, a prodrug that needs to be activated. Researchers are trying to develop direct inhibitors of InhA. This includes the resolution of crystallographic structures. The Protein Data Bank contains over a hundred InhA structures.
Julien Rizet, Laurent Maveyraud, David Rengel, Valérie Guillet, Gabriel Publicola, Frédéric Rodriguez, Christian Lherbet, Lionel Mourey   +7 more
wiley   +1 more source

Prevalence of the Pro12Ala missense mutation in the PPARG2 gene in Kuwaiti patients with primary knee osteoarthritis

Annals of Saudi Medicine, 2011
Background and Objectives: Peroxisome proliferator-activated receptors (PPARs) play an important role in a number of cellular and metabolic functions. This study was carried out to determine the prevalence of a missense mutation (Pro12Ala) in the PPARG2 ...
Al-Jarallah Khaled, Shehab Diaa, Haider Mohammad   +2 more
doaj  

Identification and Clinical Evaluation of Potential Biomarkers for Breast Cancer Resistance Protein (BCRP/ABCG2)

Clinical Pharmacology &Therapeutics, EarlyView.
Clinical inhibition and genetic variation of the Breast Cancer Resistance Protein (BCRP/ABCG2) efflux transporter can significantly influence drug exposure, highlighting the need for reliable BCRP functional biomarkers. This study aimed to identify and evaluate biomarkers predictive of BCRP function in humans.
Andrew M. Riselli, Sook Wah Yee, Jia Yang, Claire M. Brett, Kelsey Trumbach, Xujia Zhou, Renmeng Liu, Xiaomin Liang, Yurong Lai, Runlan Huo, Yongjun Xue, Hong Shen, Lei Zhang, Xinning Yang, Qi Liu, Shiew‐Mei Huang, Kathleen M. Giacomini   +16 more
wiley   +1 more source