Results 81 to 90 of about 247,558 (284)

A missense mutation in PDHB gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro

Italian Journal of Pediatrics
Background Pyruvate dehydrogenase (PDH) deficiency is an uncommon condition responsible for primary refractory lactic acidosis, and PDH E1β (PDHB) subunit gene mutation rarely causes of PDH deficiency.
Ying Li, Lin Cheng, Xin Li, Jiyu Liu, Lu Yi, Tao Bo   +5 more
doaj   +1 more source

Long-term rearrangement of retinal structures in a novel mutation of X-linked retinoschisis [PDF]

, 2017
The aim of the present study was to report a novel mutation in the retinoschisin 1 (RS1) gene in a Caucasian family affected by X-linked juvenile retinoschisis (XLRS) and to describe the long-term modification of retinal structure.
Colavito, Davide, Giudice Elda, Del, Leon, Alberta, Maritan, Veronica, Miotto, Stefania, Patrizia Tormene, Alma, Piermarocchi, Rita, Piermarocchi, Stefano   +7 more
core   +1 more source

Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan, John R. Mills, Paulina Vargas, Naveen K. Paramasivan, Connie E. Lesnick, Eati Basal, Surendra Dasari, James P. Fryer, Shannon R. Hinson, Joseph Laporta, Amy Espinal, Dennis Fitzgerald, Carolina Garcia, Anna E. Morenkova, Paola Pergami, Anna Shah, Andrew Knight, Reghann LaFrance Corey, Vanda A. Lennon, Anastasia Zekeridou, Sean J. Pittock, Divyanshu Dubey, Andrew McKeon   +22 more
wiley   +1 more source

Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations [PDF]

, 2009
Background: Activating mutations in the GLUD1 gene (which encodes for the intra-mitochondrial enzyme glutamate dehydrogenase, GDH) cause the hyperinsulinism–hyperammonaemia (HI/HA) syndrome.
Banerjee, I., Ben-Omran, T., Chadefaux, B., Chakrapani, A., Ellard, S., Flanagan, S. E, Fulton, P., Hussain, K., Kapoor, R. R, Shield, J. P   +9 more
core   +2 more sources

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

MoKCa database - mutations of kinases in cancer [PDF]

, 2009
Members of the protein kinase family are amongst the most commonly mutated genes in human cancer, and both mutated and activated protein kinases have proved to be tractable targets for the development of new anticancer therapies The MoKCa database ...
Alfarano, Altschul, Berman, Braconi Quintaje, Bruford, Burnworth, Chatr-aryamontri, Christopher J. Richardson, Clifford, Costas Mitsopoulous, Daley, Diella, Fernández, Finn, Flicek, Forbes, Frances M. G. Pearl, Gene Ontology Consortium, Greenman, Greenman, Hanahan, Hulo, Kaminker, Kaminker, Kerrien, Koorstra, Lappalainen, Laurence H. Pearl, Letunic, Manning, Marketa Zvelebil, Mishra, Ng, O'Brien, Ortutay, Pagel, Pearl, Qiong Gao, Sawyers, Sjöblom, Stark, Torkamani, UniProt Consortium, Vastrik, Velankar, Wheeler, Wood, Yeats   +47 more
core   +3 more sources

Mutator phenotypes of common polymorphisms and missense mutations in MSH2 [PDF]

Current Biology, 1999
Hereditary non-polyposis colorectal cancer (HNPCC) is associated with germline mutations in the DNA mismatch repair gene hMSH2 [1], the human homologue of the Escherichia coli MutS gene. These are mostly nonsense, frameshift or deletion mutations that result in loss of intact protein and complete inactivation of DNA mismatch repair.
Drotschmann, Karin, Clark, Alan B., Kunkel, Thomas A.   +2 more
openaire   +2 more sources

Characterization of Microplastics in Human Gastric Cancer and Control Tissues and Analysis of Associated Genetic Features

Advanced Healthcare Materials, EarlyView.
This study characterizes the presence of microplastics in human normal gastric, para‐tumor, and gastric tumor tissue and confirms the association between microplastic exposure and lymph node metastasis in gastric cancer. This study explores the transcriptomic changes induced by microplastic exposure, laying the foundation for further investigation into
Liqiao Chen, Jialin Li, Yan Wu, Han Bao, Xuesong Yang, Guoqing Lv, Ke Ji, Ji Zhang, Xiaojiang Wu, Kai Zhou, Jieli Xu, Jiatian Tang, Xiyuan Han, Anqiang Wang   +13 more
wiley   +1 more source

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate. [PDF]

, 2019
Cleft lip with/without cleft palate (CLP) is a common craniofacial malformation with complex etiologies, reflecting both genetic and environmental factors. Most of the suspected genetic risk for CLP has yet to be identified. To further classify risk loci
Asrani, Kripa, Marini, Nicholas J, Rine, Jasper, Shaw, Gary M, Yang, Wei   +4 more
core   +2 more sources

Behavioral Phenotypes of Disc1 Missense Mutations in Mice [PDF]

Neuron, 2007
To support the role of DISC1 in human psychiatric disorders, we identified and analyzed two independently derived ENU-induced mutations in Exon 2 of mouse Disc1. Mice with mutation Q31L showed depressive-like behavior with deficits in the forced swim test and other measures that were reversed by the antidepressant bupropion, but not by rolipram, a ...
Clapcote, S. J., Lipina, T. V., Millar, J. K., Mackie, S., Christie, S., Ogawa, F., Lerch, J. P., Trimble, K., Uchiyama, M., Sakuraba, Y., Kaneda, H., Shiroishi, T., Houslay, M. D., Henkelman, R. M., Sled, J. G., Gondo, Y., Porteous, D. J., Roder, J. C.   +17 more
openaire   +3 more sources