Associated Papers
A case of non-immune hydrops fetalis with maternal mirror syndrome diagnosed by trio-based exome sequencing: An autopsy case report and literature review.
Tano S et al.
Molecular Genetics and Metabolism Reports, 2022
Whole-genome CRISPR screening identifies N-glycosylation as a genetic and therapeutic vulnerability in CALR-mutant MPNs.
Jutzi JS et al.
Blood, 2022
Noonan syndrome caused by RIT1 gene mutation: A case report and literature review.
Zha P et al.
Frontiers in Pediatrics, 2022
Infanticide vs. inherited cardiac arrhythmias.
Brohus M et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2021
The molecular functions of RIT1 and its contribution to human disease.
Van R et al.
The Biochemical Journal, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis.
Takahara S et al.
Ebiomedicine, 2019
A novel RIT1 mutation causes deterioration of Noonan syndrome-associated cardiac hypertrophy.
Cai J et al.
Ebiomedicine, 2019
RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1.
Meyer Zum Büschenfelde U et al.
Plos Genetics, 2018
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
Kouz K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1).
Fang Z et al.
The Journal of Biological Chemistry, 2016