Results 41 to 50 of about 1,703,111 (346)

Investigation of anticoagulant rodenticide resistance induced by Vkorc1 mutations in rodents in Lebanon

Scientific Reports, 2022
Anticoagulant rodenticides (AR) remain the most effective chemical substances used to control rodents in order to limit their agricultural and public health damage in both rural and urban environments.
Antoine Rached, Georges Abi Rizk, Ali Barka Mahamat, Graziella El Khoury, Jeanne El Hage, Elena Harran, Virginie Lattard   +6 more
doaj   +1 more source

Previously Identified Genetic Variants in ADGRL3 Are not Associated with Risk for Equine Degenerative Myeloencephalopathy across Breeds. [PDF]

, 2019
Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is a neurologic disease that has been reported in young horses from a wide range of breeds. The disease is inherited and associated with vitamin E deficiency during the first
Burns, Erin N, Finno, Carrie J, Marquardt, Sabin A, Peterson, Janel A, Wilcox, Callie V   +4 more
core   +1 more source

Two Frequent Missense Mutations in Pendred Syndrome [PDF]

Human Molecular Genetics, 1998
Pendred syndrome is an autosomal recessive disorder characterized by early childhood deafness and goiter. A century after its recognition as a syndrome by Vaughan Pendred, the disease gene ( PDS ) was mapped to chromosome 7q22-q31.1 and, recently, found to encode a putative sulfate transporter. We performed mutation analysis of the PDS gene in patients
van Hauwe, Peter, Everett, Lorraine A., Coucke, Paul, Scott, Daryl A., Kraft, Michelle L., Ris-Stalpers, Carrie, Bolder, Cuny, Otten, Barto, de Vijlder, Jan J.M., Dietrich, Nicole L., Ramesh, Arabandi, Srikumari Srisailpathy, C.R., Parving, Agnete, Cremers, Cor W.R.J., Willems, Patrick J., Smith, Richard J.H., Green, Eric D., Van Camp, Guy   +17 more
openaire   +5 more sources

Whole exome and targeted deep sequencing identify genome-wide allelic loss and frequent SETDB1 mutations in malignant pleural mesotheliomas. [PDF]

, 2016
Malignant pleural mesothelioma (MPM), a rare malignancy with a poor prognosis, is mainly caused by exposure to asbestos or other organic fibers, but the underlying genetic mechanism is not fully understood.
Fang, Li Tai, Jablons, David M, Jen, Kuang-Yu, Jones, Kirk, Kang, Hio Chung, Kim, Hong Kwan, Kim, Il-Jin, Kim, James Wansoo, Lee, Sharon, Mendez, Pedro, Woodard, Gavitt, Yoon, Jun-Hee   +11 more
core   +3 more sources

A Newly Identified Missense Mutation in FARS2 Causes Autosomal‐Recessive Spastic Paraplegia

Human Mutation, 2016
Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by spasticity of the lower limbs due to pyramidal tract dysfunction.
Ying Yang, Wei Liu, Z. Fang, Juan Shi, Fengyu Che, Chunxia He, Libo Yao, Enduo Wang, Yuan-ming Wu   +8 more
semanticscholar   +1 more source

Analyzing Effects of Naturally Occurring Missense Mutations [PDF]

Computational and Mathematical Methods in Medicine, 2012
Single-point mutation in genome, for example, single-nucleotide polymorphism (SNP) or rare genetic mutation, is the change of a single nucleotide for another in the genome sequence. Some of them will produce an amino acid substitution in the corresponding protein sequence (missense mutations); others will not.
Zhang, Zhe, Miteva, Maria A, Wang, Lin, Alexov, Emil   +3 more
openaire   +3 more sources

ThermoMutDB: a thermodynamic database for missense mutations [PDF]

Nucleic Acids Research, 2020
Abstract Proteins are intricate, dynamic structures, and small changes in their amino acid sequences can lead to large effects on their folding, stability and dynamics. To facilitate the further development and evaluation of methods to predict these changes, we have developed ThermoMutDB, a manually curated database containing >14,
Joicymara S Xavier, Thanh-Binh Nguyen, Malancha Karmarkar, Stephanie Portelli, Pâmela M Rezende, João P L Velloso, David B Ascher, Douglas E V Pires   +7 more
openaire   +3 more sources

A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease

BMC Medical Genetics, 2018
Background Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with ...
Xing Wu, Lanlan Chen, Yixin Zhang, Hainan Xie, Meirong Xue, Yi Wang, Houbin Huang   +6 more
doaj   +1 more source

Packpred: Predicting the functional effect of missense mutations [PDF]

Frontiers in Molecular Biosciences, 2021
1.AbstractPredicting the functional consequences of single point mutations has relevance to protein function annotation and to clinical analysis/diagnosis. We developed and tested Packpred that makes use of a multi-body clique statistical potential in combination with a depth dependent amino acid substitution matrix (FADHM) and positional Shannon ...
Kuan Pern Tan, Kuan Pern Tan, Tejashree Rajaram Kanitkar, Chee Keong Kwoh, Mallur Srivatsan Madhusudhan   +4 more
openaire   +5 more sources

Experimental analysis of bladder cancer-associated mutations in EP300 identifies EP300-R1627W as a driver mutation

Molecular Medicine, 2023
Background Bladder cancer (BCa) is the most common malignant tumor of the urinary system, with transitional cell carcinoma (TCC) being the predominant type.
Mayao Luo, Yifan Zhang, Zhuofan Xu, Shidong Lv, Qiang Wei, Qiang Dang   +5 more
doaj   +1 more source