Results 31 to 40 of about 726,285 (296)

Case report: A novel mosaic nonsense mutation of PCDH19 in a Chinese male with febrile epilepsy

Frontiers in Neurology, 2022
The clinical features of the PCDH19 gene mutation include febrile epilepsy ranging from mild to severe, with or without intellectual disability, cognitive impairment, and psych-behavioral disorders, but there has been little research on males with the ...
Guilan Chen, Hang Zhou, Yan Lu, You Wang, You Wang, Yingsi Li, Jiaxin Xue, Ken Cheng, Ken Cheng, Ruibin Huang, Jin Han   +10 more
doaj   +1 more source

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) consists of a group of neurodegenerative diseases characterized by behavioural and executive impairment, language disorders and motor dysfunction.
Calo, Laura, Goedert, Michel, Holton, Janice L., Iovino, Mariangela, Lashley, Tammaryn, Lund University., Lund University., Lund University., Muqit, Miratul M. K., Parmar, Malin,, Pfisterer, Ulrich,, Revesz, Tamas, Spillantini, Maria Grazia, Swingler, Robert J., Treacy, Rebecca   +14 more
core   +4 more sources

Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy [PDF]

, 2006
Background - Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disorder characterized by loss of cardiomyocytes and their replacement by adipose and fibrous tissue.
Asimaki, A, Ebrahim, HY, Elliott, PM, Evans, A, Hitomi, N, McKenna, WJ, Norman, M, Pantazis, A, Sen-Chowdhry, S, Shaw, AL, Syrris, P, Ward, D   +11 more
core   +1 more source

O-GlcNAcase contributes to cognitive function in Drosophila [PDF]

, 2020
Contains fulltext : 219183.pdf (publisher's version ) (Open ...
Catinozzi, Marica, Eidhof, Ilse, Fenckova, Michaela, Ferenbach, Andrew, Muha, Villo, Schenck, Annette, Storkebaum, Erik, van Aalten, Daan   +7 more
core   +3 more sources

Morsifications and mutations

, 2020
We describe and investigate a connection between the topology of isolated singularities of plane curves and the mutation equivalence, in the sense of cluster algebra theory, of the quivers associated with their morsifications.Comment: Major revision and ...
Fomin, Sergey, Pylyavskyy, Pavlo, Shustin, Eugenii, Thurston, Dylan   +3 more
core   +1 more source

Cardiac manifestations of PRKAG2 mutation. [PDF]

, 2018
BACKGROUND:The Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac syndrome is characterized by glycogen accumulation in the cardiac tissue.
Ardehali, Reza, Banankhah, Pooya, Dota, Anthony, Fishbein, Gregory A   +3 more
core   +1 more source

A 14-bp insertion in endothelin receptor B-like (EDNRB2) is associated with white plumage in Chinese geese

BMC Genomics, 2020
Background Gang goose is a native species with gray plumage in Sichuan, China. As a result of overhunting, the number of gray Gang geese has decreased dramatically. To keep the species from extinction, conservation work for Gang geese was undertaken.
Yang Xi, Lei Wang, Hehe Liu, Shengchao Ma, Yanying Li, Liang Li, Jiwen Wang, Han Chunchun, Lili Bai, Ahsan Mustafa, Hua He   +10 more
doaj   +1 more source

The "silver" Japanese quail and the MITF gene: causal mutation, associated traits and homology with the "blue" chicken plumage

BMC Genetics, 2010
Background The MITF (microphthalmia-associated transcription factor) gene has been investigated in mice and various vertebrates but its variations and associated effects have not yet been explored much in birds.
Ito Shin'ichi, Coville Jean-Luc, Bed'hom Bertrand, Minvielle Francis, Inoue-Murayama Miho, Gourichon David   +5 more
doaj   +1 more source

Polyglucosan body myopathy 1 may cause cognitive impairment: a case report from China

BMC Musculoskeletal Disorders, 2021
Background Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease that can cause skeletal muscle myopathy and cardiomyopathy with or without immunodeficiency due to a pathogenic mutation in the RBCK1 gene.
Lin Chen, Nan Wang, Wenbin Hu, Xuen Yu, Renming Yang, Yongzhu Han, Yan Yan, Na Nian, Congbo Sha   +8 more
doaj   +1 more source

Triple-Negative Breast Cancer in Georgia: Burden, Disparities, and Connections to Georgia's Breast Cancer Genomics Project

Journal of the Georgia Public Health Association, 2017
Background: Triple negative breast cancer (TNBC) is typically aggressive and unresponsive to traditional cancer treatment, and disproportionately affects young and Black women. Approximately 60%-80% of breast cancers in women with the breast cancer gene (
Alissa Berzen, Rana Bayakly
doaj   +1 more source