Results 21 to 30 of about 714,661 (305)

The novel MAPT mutation K298E:mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons [PDF]

, 2013
Frontotemporal lobar degeneration (FTLD) is the one of the most frequent neurodegenerative disorders characterized by behavioral and executive impairment, language disorders and motor dysfunction.
Holton, Janice L., Tammaryn Lashley, Treacy, Rebecca, Laura Calo, Michel Goedert, Parmar, Malin,, Muqit, Miratul M. K., Janice L. Holton, Revesz, Tamas, Lashley, Tammaryn, Mariangela Iovino, Tamas Revesz, Robert J. Swingler, Pfisterer, Ulrich, Swingler, Robert J., Malin Parmar, Maria Grazia Spillantini, Calo, Laura, Ulrich Pfisterer, Miratul M. K. Muqit, Parmar, Malin, Spillantini, Maria Grazia, Iovino, Mariangela, Pfisterer, Ulrich,, Lund University., Iovino, Mariaangela, Goedert, Michel, Rebecca Treacy   +27 more
core   +1 more source

Biochemical Analysis of a Missense Mutation in Aceruloplasminemia [PDF]

Journal of Biological Chemistry, 2002
Aceruloplasminemia is an inherited neurodegenerative disease characterized by parenchymal iron accumulation secondary to loss-of-function mutations in the ceruloplasmin gene. To elucidate the molecular pathogenesis of aceruloplasminemia, the biosynthesis of a missense mutant ceruloplasmin (P177R) occurring in an affected patient was examined.
Nathan E, Hellman, Satoshi, Kono, Hiroaki, Miyajima, Jonathan D, Gitlin   +3 more
openaire   +2 more sources

TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma

Journal of Translational Medicine, 2023
Background Although the molecular features of pancreatic ductal adenocarcinoma (PDAC) have been well described, the impact of detailed gene mutation subtypes on disease progression remained unclear.
Yiran Zhou, Jiabin Jin, Yuchen Ji, Jiaqiang Zhang, Ningzhen Fu, Mengmin Chen, Jun Wang, Kai Qin, Yu Jiang, Dongfeng Cheng, Xiaxing Deng, Baiyong Shen   +11 more
doaj   +1 more source

Missense mutations in DYT-TOR1A dystonia [PDF]

Neurology Genetics, 2019
DYT-TOR1A dystonia is caused by dominant mutations in the TOR1A gene, most frequently a heterozygous in-frame deletion in exon 5 (c.904_906delGAG; p.302/303delE).1 The most frequent phenotype has childhood onset in a limb, spreading to generalized dystonia within a few years.
Zafar Iqbal, Jeanette Koht, Lasse Pihlstrøm, Sandra P. Henriksen, Chiara Cappelletti, Michael Bjørn Russel, Osmar Norberto de Souza, Inger Marie Skogseid, Mathias Toft   +8 more
openaire   +3 more sources

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

Further genetic heterogeneity for autosomal dominant human sutural cataracts [PDF]

, 2003
A unique sutural cataract was observed in a 4-generation German family to be transmitted as an isolated autosomal, dominant trait. Since mutations in the gamma-crystallin encoding CRYG genes have previously been demonstrated to be the most frequent ...
Graw, Jochen, Illig, T., Billingsley, G., Wjst, M., Graw, J., Rudolph, G., Klopp, N., Heon, E., Klopp, N.;Heon, E.;Billingsley, G.;Illig, T.;Wjst, M.;Rudolph, G.;Graw, J.   +8 more
core   +1 more source

Functional Consequences of PRODH Missense Mutations [PDF]

The American Journal of Human Genetics, 2005
PRODH maps to 22q11 in the region deleted in the velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS) and encodes proline oxidase (POX), a mitochondrial inner-membrane enzyme that catalyzes the first step in the proline degradation pathway. At least 16 PRODH missense mutations have been identified in studies of type I hyperprolinemia (HPI) and ...
Bender, Hans-Ulrich, Almashanu, Shlomo, Steel, Gary, Hu, Chien-An, Lin, Wei-Wen, Willis, Alecia, Pulver, Ann, Valle, David   +7 more
openaire   +2 more sources

Classification of Missense Mutations of Disease Genes [PDF]

Journal of the American Statistical Association, 2005
Clinical management of individuals found to harbor a mutation at a known disease-susceptibility gene depends on accurate assessment of mutation-specific disease risk. For missense mutations (MMs)-mutations that lead to a single amino acid change in the protein coded by the gene-this poses a particularly challenging problem.
Xi Zhou, Edwin S. Iversen, Giovanni Parmigiani   +2 more
openaire   +3 more sources

Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

, 2022
A rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane-tethering protein complexes, HOPS, and CORVET.
Manna, Paul T,, Luzio, J. P., Cox, T. M., Dickson, V. K., Michaeli, H. G., Church, H. J., Michelson, M., Tylee, K. L., Lev, D., Yosovich, K., Pavlova, E. V., Bright, N. A.   +11 more
core   +1 more source

Missense mutations of human homeoboxes: A review [PDF]

Human Mutation, 2001
The homeodomain (encoded by the homeobox) is the DNA-binding domain of a large variety of transcriptional regulators involved in controlling cell fate decisions and development. Mutations of homeobox-containing genes cause several diseases in humans. A variety of missense mutations giving rise to human diseases have been described.
D'Elia AV, TELL, Gianluca, Paron I, Pellizzari L, LONIGRO, Incoronata, DAMANTE, Giuseppe   +5 more
openaire   +3 more sources