(2005) A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot- Marie- Tooth disease type 2E. Neurogenetics, 6, 49-50.Andrigo C, Boito C, Prandini P, et al. A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) ...
Inducible systems are another alternative for temporal and tissue or cell-type-specific gene inactivation. This technology allows the researcher to choose a specific time frame rather than one dictated by the expression pattern of a specific promoter. Inducible systems based on the use of a modified...
Cardiomyocytes derived from patient-specific induced pluripotent stem cells (iPSC-CMs) successfully reproduce the mechanisms of several channelopathies. However, this approach involve cell reprogramming from somatic tissue biopsies or genomic editing in healthy iPSCs for every mutation found and to be inv...
Mice homozygous for this mutation displayed the unusual phenotype of low frequency hearing loss (lowf) (Fig. 2a). We mapped the mutation to a 5.7 Mb region on chromosome 9 (Additional File 1: Fig. S1), in which we found 3 exonic variants (Additional File ...
frame.set_facecolor('1.0') frame.set_edgecolor('1.0') Pylab vs Matplotlib Matplotlib: object-oriented interface -> better for advanced scripts Pylab: matlab-like interface (simple), on top of matplotlib -> simple scripts or interactive use (a la matlab) Warning: Having these two APIs can be...
Status of pods can become "OutOfCpu" when many pods are created and completed in a short time on the same node. What did you expect to happen? Status of pods should become "Running", "Pending" or "Completed". How can we reproduce it (as minimally and precisely as possible)? I creat...
Sonic hedgehog subgroup of medulloblastoma (SHH-MB) is characterized by aberrant activation of the SHH signaling pathway. An inhibition of the positive SHH regulator Smoothened (SMO) has demonstrated promising clinical efficacy. Yet, primary and acquired
TRDN−/− iPSC-CMs revealed that loss of triadin underlies decreased expression and co-localization of key calcium handling proteins, slow and decreased calcium release from the sarcoplasmic reticulum, and slow inactivation of the L-type calcium channel leading to frequent cellular arrhythmias, ...
A yellow box indicates a frame shift mutation induced by ZFNs. Pr., Primer. coKO, congenital KO. acKO, acquired KO. SCIENTIFIC REPORTS | 2 : 945 | DOI: 10.1038/srep00945 2 www.nature.com/scientificreports Table 1 | The p53 Genotypes of Adult and Embryonic Rats Genotype p531/1 p531/C ...
Mutations in PCDH19 gene, which encodes protocadherin-19 (PCDH19), cause Developmental and Epileptic Encephalopathy 9 (DEE9). Heterogeneous loss of PCDH19 expression in neurons is considered a key determinant of the disorder; however, how PCDH19 mosaic expression affects neuronal network activity and...