Results 71 to 80 of about 255,701 (284)
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 +12 more
wiley +1 more source
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome
Case Reports in Genetics, 2017 Congenital nephrotic syndrome, a rare and severe disease, is inherited as an autosomal recessive trait. The disease manifests shortly after birth and occurs predominantly in families of Finnish origin but has now been observed in all countries and races.
Thi Kim Lien Nguyen +5 more
doaj +1 more source
Generation of Casp8FL122/123GG Mice Using CRISPR-Cas9 Technology
STAR Protocols, 2020 Summary: The purpose of this protocol is to describe the generation of missense mutations in mice using CRISPR-Cas9 technology. The current protocol focuses on the generation of a Casp8FL122/123GG missense mutation, but it can be adapted to introduce any
Stephane Pelletier +2 more
doaj +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 +4 more
core +2 more sources
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 +13 more
wiley +1 more source
A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family [PDF]
International Journal of OphthalmologyAIM: To investigate the molecular diagnosis of a three-generation Chinese family affected with aniridia, and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.
Zhi-Bo Lin +6 more
doaj +1 more source
SomInaClust: detection of cancer genes based on somatic mutation patterns of inactivation and clustering [PDF]
, 2015 Background: With the advances in high throughput technologies, increasing amounts of cancer somatic mutation data are being generated and made available.
Fierro Gutierrez, Ana Carolina Elisa +3 more
core +2 more sources
NARFL Knockout Triggers Ferroptosis‐Driven Vascular Endothelial Dysfunction
Advanced Science, EarlyView.NARFL is vital for CIA and oxidative stress resistance. NARFL deletion in HPMEC cells, zebrafish, and mice is lethal and rescued by a Ferroptosis inhibitor. NARFL deficiency disrupted its interaction with CIA proteins, decreased aconitase activity, increased IRP1 activity, induced Fe overload, and led to ferroptosis and oxidative stress, resulting in ...
Hui Hu +15 more
wiley +1 more source
HereditasBackground Fibrinogen plays pivotal roles in multiple biological processes. Genetic mutation of the fibrinogen coding genes can result in congenital fibrinogen disorders (CFDs).
Nuo Xu +6 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 +5 more
core +2 more sources