Results 31 to 40 of about 27,823 (222)

An in‐frame pseudoexon activation caused by a novel deep‐intronic variant in the dysferlin gene

Annals of Clinical and Translational Neurology, 2023
The precise detection and interpretation of pathogenic DYSF variants are sometimes challenging, largely due to rare deep‐intronic splice‐altering variants. Here, we report on the genetic diagnosis of a male patient with dysferlinopathy.
Chengyue Sun, Zhiying Xie, Lu Cong, Yan Xu, Zunjing Liu   +4 more
doaj   +1 more source

Mutation Analysis of HTRA2 Gene in Chinese Familial Essential Tremor and Familial Parkinson’s Disease

Parkinson's Disease, 2017
Background. HTRA2 has already been nominated as PARK13 which may cause Parkinson’s disease, though there are still discrepancies among these results.
Ya-Chao He, Pei Huang, Qiong-Qiong Li, Qian Sun, Dun-Hui Li, Tian Wang, Jun-Yi Shen, Juan-Juan Du, Shi-Shuang Cui, Chao Gao, Rao Fu, Sheng-Di Chen   +11 more
doaj   +1 more source

Variants Affecting Exon Skipping Contribute to Complex Traits

PLoS Genetics, 2012
DNA variants that affect alternative splicing and the relative quantities of different gene transcripts have been shown to be risk alleles for some Mendelian diseases. However, for complex traits characterized by a low odds ratio for any single contributing variant, very few studies have investigated the contribution of splicing variants.
Lee, Younghee, Gamazon, Eric R., Rebman, Ellen, Lee, Yeunsook, Lee, Sanghyuk, Dolan, M. Eileen, Cox, Nancy J., Lussier, Yves A.   +7 more
openaire   +5 more sources

An Improved Technique for Genotyping the ABCB1 Gene Variant of Exon 21

Methods and Protocols, 2023
The Multidrug Resistance protein (ABCB1, MDR1) is involved in the transport of xenobiotics and antiretroviral drugs. Some variants of the ABCB1 gene are of clinical importance; among them, exon 12 (c.1236C>T, rs1128503), 21 (c.2677G>T/A, rs2032582), and 26 (c.3435C>T, rs1045642) have a high incidence in Caucasians.
Johanna Romina Zuccoli, Priscila Ayelén Pagnotta, Viviana Alicia Melito, Jimena Verónica Lavandera, Victoria Estela Parera, Ana María Buzaleh   +5 more
openaire   +4 more sources

Rare variants in previously identified linkage regions associated with carotid plaque in Dominican Republic families.

PLoS ONE, 2022
Carotid plaque is a subclinical measure of atherosclerosis. We have previously shown measures of carotid plaque to be heritable in a sample of 100 Dominican families and found evidence for linkage and association of common variants (CVs) on 7q36, 11p15 ...
Nicole D Dueker, Ashley Beecham, Liyong Wang, Chuanhui Dong, Ralph L Sacco, Susan H Blanton, Tatjana Rundek   +6 more
doaj   +3 more sources

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome

Frontiers in Neurology, 2021
Pathogenic variants in the SCN1A gene are associated with a spectrum of epileptic disorders ranging in severity from familial febrile seizures to Dravet syndrome.
Peter Sparber, Svetlana Mikhaylova, Varvara Galkina, Yulia Itkis, Mikhail Skoblov   +4 more
doaj   +1 more source

Familial currarino syndrome caused by a deep intronic variant resulting in missplicing of MNX1

Rare
Currarino syndrome (CS) is an autosomal dominant multiple congenital anomalies syndrome characterised by a triad of anorectal malformations, presacral masses, and sacral defects.
Em C. Jameson, Zandra A. Jenkins, Candice Feben, Kate Gibson, David Markie, Stephen P. Robertson, Benjamin J. Halliday   +6 more
doaj   +1 more source

Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy

Neurobiology of Disease, 2014
Gephyrin is a postsynaptic scaffolding protein, essential for the clustering of glycine and γ-aminobutyric acid type-A receptors (GABAARs) at inhibitory synapses. An impairment of GABAergic synaptic inhibition represents a key pathway of epileptogenesis.
Borislav Dejanovic, Dennis Lal, Claudia B. Catarino, Sita Arjune, Abdel A. Belaidi, Holger Trucks, Christian Vollmar, Rainer Surges, Wolfram S. Kunz, Susanne Motameny, Janine Altmüller, Anna Köhler, Bernd A. Neubauer, EPICURE Consortium, Peter Nürnberg, Soheyl Noachtar, Günter Schwarz, Thomas Sander   +17 more
doaj   +1 more source

Mice carrying a schizophrenia-associated mutation of the Arhgap10 gene are vulnerable to the effects of methamphetamine treatment on cognitive function: association with morphological abnormalities in striatal neurons

Molecular Brain, 2021
We recently found a significant association between exonic copy-number variations in the Rho GTPase activating protein 10 (Arhgap10) gene and schizophrenia in Japanese patients.
Kazuhiro Hada, Bolati Wulaer, Taku Nagai, Norimichi Itoh, Masahito Sawahata, Akira Sobue, Hiroyuki Mizoguchi, Daisuke Mori, Itaru Kushima, Toshitaka Nabeshima, Norio Ozaki, Kiyofumi Yamada   +11 more
doaj   +1 more source

Keratin 19 as a prognostic marker and contributing factor of metastasis and chemoresistance in high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Keratin 19 (KRT19) is overexpressed in high‐grade serous ovarian cancer with high levels of Kallikrein‐related peptidases (KLK) 4–7 and is associated with poor survival. In vivo analyses demonstrate that elevated KRT19 increases peritoneal tumour burden.
Sophia Bielesch, Isabel Vogel, Sina Nokodian, Johanna Moeller, Antonia Blechschmidt, Vicky Hecht, Vanessa Kuentzel, Katharina Thiedig, Melissa Schwab, Oliver Schilling, Holger Bronger, Marion Kiechle, Viktor Magdolen, Tobias Dreyer   +13 more
wiley   +1 more source