Results 111 to 120 of about 69,317 (259)

Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations. [PDF]

, 2015
Pseudoxanthoma elasticum (PXE), an autosomal recessive disorder characterized by ectopic mineralization, is caused by mutations in the ABCC6 gene. We examined clinically 29 Chinese PXE patients from unrelated families, so far the largest cohort of Asian ...
Jiang, Qiujie, Jin, Liang, Shao, Changxia, Uitto, Jouni, Wang, Gang, Wu, Zhengsheng, Yang, Luting, Zhou, Yong   +7 more
core   +3 more sources

Artificial intelligence in the assessment of epilepsy‐related genetic mutations: Learned from GABAA receptors and GABA transporter 1

Epilepsia Open, EarlyView.
Abstract This review examines how recent genetic and technological advances have transformed our understanding and treatment of genetic epilepsies (GEs), with a focus on disorders involving GABAA receptors (GABRs) and the GABA transporter 1 (GAT‐1) encoded by SLC6A1.
Juexin Wang, Jing‐Qiong Kang
wiley   +1 more source

A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses [PDF]

, 2015
Background: Hydrocephalus in Friesian horses is a developmental disorder that often results in stillbirth of affected foals and dystocia in dams. The occurrence is probably related to a founder effect and inbreeding in the population.
Back, Willem, Bastiaansen, John WM, Boegheim, Iris JM, Dibbits, Bert W, Ducro, Bart J, Hellinga, Ids, Leegwater, Peter AJ, Monroe, Glen R, Nijman, Isaac J, Schurink, Anouk, van Steenbeek, Frank G, Vos-Loohuis, Manon   +11 more
core   +3 more sources

UPF1 silenced cellular model systems for screening of read-through agents active on β039 thalassemia point mutation

BMC Biotechnology, 2018
Background Nonsense mutations promote premature translational termination, introducing stop codons within the coding region of mRNAs and causing inherited diseases, including thalassemia.
Francesca Salvatori, Mariangela Pappadà, Giulia Breveglieri, Elisabetta D’Aversa, Alessia Finotti, Ilaria Lampronti, Roberto Gambari, Monica Borgatti   +7 more
doaj   +1 more source

Full UPF3B function is critical for neuronal differentiation of neural stem cells [PDF]

, 2015
Acknowledgments We thank Fred H Gage (Salk Institute, La Jolla, CA, USA) for HCN-A94 cells and Niels Gehring (University of Cologne, Germany) for constructs.
Alrahbeni, Tahani, Anderson, Jihan, McCaig, Colin, Miedzybrodzka, Zosia, Muller, Berndt, Sartor, Francesca   +5 more
core   +2 more sources

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source

TOX3 mutations in breast cancer [PDF]

, 2013
TOX3 maps to 16q12, a region commonly lost in breast cancers and recently implicated in the risk of developing breast cancer. However, not much is known of the role of TOX3 itself in breast cancer biology.
Caldas, Carlos, Chin, Suet-Feung, Jones, James Owain, Leaford, Donna, Maia, Ana Teresa, Ponder, Bruce A. J., Wong-Taylor, Li-An   +6 more
core   +3 more sources

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

Establishment and rescue of fibroblast cell lines carrying a nonsense mutation of RB1 by CRISPR-based base editing

Scientific Reports
Pathogenic variants of the RB1 gene have commonly been found in many cancer types, including retinoblastoma. Nonsense mutations are the most common mutation type in retinoblastoma; however, few cell lines mimic nonsense mutations in the RB1 gene that are
Youngri Jung, Eunhee Seo, Soyeon Yang, Sangsu Bae, Jeong Hun Kim, Hyeon-ki Jang, Dong Hyun Jo   +6 more
doaj   +1 more source

Enhancement of immune checkpoint inhibitor efficacy by DHX58+ SELL+ T cells in advanced gastric cancer

VIEW, EarlyView.
We created a coculture system using patient‐derived organoids (PDOs) and tumor‐infiltrating lymphocytes (TILs) that mimics important interactions between PDOs and TILs in the presence of various ICIs. Our findings reveal that CD62L+ T cells, activated by CD44+ cancer stem cells (CSCs), facilitate tumor regression in samples sensitive to ICIs, which is ...
Jie Chen, Youdong Liu, Hongda Pan, Tianyi Cai, Mingde Zang, Xiaowen Liu, Ziwen Long, Xin Fan, Jun Lu, Fenglin Liu   +9 more
wiley   +1 more source