Results 31 to 40 of about 1,544,422 (378)

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

Targeted next-generation sequencing of dedifferentiated chondrosarcoma in the skull base reveals combined TP53 and PTEN mutations with increased proliferation index, an implication for pathogenesis [PDF]

, 2016
Dedifferentiated chondrosarcoma (DDCS) is a rare disease with a dismal prognosis. DDCS consists of two morphologically distinct components: the cartilaginous and noncartilaginous components.
Cao, Dengfeng, Chen, Rongrong, Chen, Xi, DeLaney, Thomas F, Gao, Lu, Gao, Xiaohuan, Gong, Xinqi, Guo, Xiaopeng, Hong, Xiafei, Ni, Jianjiao, Tian, Pangzehuan, Wang, Renzhi, Xing, Bing, Yao, Yong   +13 more
core   +2 more sources

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

BMC Medical Genetics, 2017
BackgroundRare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant mode of inheritance.Case ...
B. Jensson, S. Hansdóttir, G. Arnadottir, G. Sulem, Ragnar P. Kristjansson, A. Oddsson, S. Benonisdottir, Hákon Jónsson, A. Helgason, J. Saemundsdottir, O. Magnusson, G. Másson, Gudmundur A. Thorisson, Adalbjorg Jonasdottir, Á. Jónasdóttir, A. Sigurdsson, I. Jónsdóttir, V. Pétursdóttir, J. Kristinsson, D. Gudbjartsson, U. Thorsteinsdóttir, R. Arngrímsson, P. Sulem, G. Gudmundsson, K. Stefánsson   +24 more
semanticscholar   +1 more source

Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report [PDF]

, 2018
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis ...
Bottillo, I, Han, Y, Lang, Y, Liu, X, Shao, L., Wang, J, Wang, Q, Zhang, R   +7 more
core   +2 more sources

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption [PDF]

, 2009
Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder which is characterized by impaired intestinal folate malabsorption and impaired folate transport into the central nervous system.
Cole, Trevor, Kurian, Manju A., Maher, Eamonn R., Meyer, Esther, Pasha, Shanaz, Trembath, Richard C.   +5 more
core   +2 more sources

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

FBXW7 missense mutation: a novel negative prognostic factor in metastatic colorectal adenocarcinoma

OncoTarget, 2017
Background FBXW7 functions as a ubiquitin ligase tagging multiple dominant oncogenic proteins and commonly mutates in colorectal cancer. Data suggest missense mutations lead to greater loss of FBXW7 function than other gene aberrations do.
K. Korphaisarn, V. Morris, M. Overman, D. Fogelman, B. Kee, Raghav Kanwal Pratap Singh, Shanequa Manuel, I. Shureiqi, R. Wolff, C. Eng, D. Menter, S. Hamilton, S. Kopetz, A. Dasari   +13 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