Results 161 to 170 of about 60,004 (331)
Molecular Therapy: Nucleic Acids, 2017 A three-nucleotide deletion in cystic fibrosis transmembrane conductance regulator/ATP-binding cassette transporter C7 (CFTR/ABCC7) resulting in the absence of phenylalanine at 508 leads to mis-fold of the mutated protein and causes cystic fibrosis.
Qinqin Xu, Yue-xian Hou, Xiu-bao Chang
doaj +1 more source
An overview and metanalysis of machine and deep learning-based CRISPR gRNA design tools
RNA Biology, 2019 The CRISPR-Cas9 system has become the most promising and versatile tool for genetic manipulation applications. Albeit the technology has been broadly adopted by both academic and pharmaceutic societies, the activity (on-target) and specificity (off ...
Jun Wang +3 more
semanticscholar +1 more source
C13orf31 (FAMIN) is a central regulator of immunometabolic function. [PDF]
, 2016 Single-nucleotide variations in C13orf31 (LACC1) that encode p.C284R and p.I254V in a protein of unknown function (called 'FAMIN' here) are associated with increased risk for systemic juvenile idiopathic arthritis, leprosy and Crohn's disease.
core +2 more sources
Connexin43 Deficiency Leads to Ventricular Arrhythmias by Reprogramming Proline Metabolism
Advanced Science, EarlyView.The study demonstrated that connexin43 (Cx43) knockout caused arrhythmic phenotype and decreased proline content in vitro and in vivo. Mechanistically, Cx43 interacts with the amino acid transporter SNAT2 (sodium‐dependent neutral amino acid transporter), and its deficiency disrupts proline transport and metabolism.
Hangying Ying +8 more
wiley +1 more source
A Tac1‐Expressing Brainstem Pathway Underlies the Pathogenesis of Trigeminal Neuralgia
Advanced Science, EarlyView.A critical TG‐Sp5CTac1‐PBNTac1 pathway drives trigeminal neuropathic pain (TNP). Tac1‐expressing parabrachial nucleus (PBNTac1) neurons exhibit heightened responses to innocuous stimuli in TNP, and chemogenetic inhibition of these neurons effectively prevents TNP development.
Liting Sun +11 more
wiley +1 more source
The zinc finger transcription factor PLAGL2 enhances stem cell fate and activates expression of ASCL2 in intestinal epithelial cells [PDF]
, 2010 O encaminhamento de textos originais para submissão seguem algumas orientações básicas, levando em conta, inicialmente, que devem ser inéditos e que serão submetidos à aprovação de avaliadores especialistas nos temas tratados.
Strubberg, Ashlee M +7 more
core +1 more source
Cell, 1992 Seventeen kinetoplast minicircle-encoded and nine maxicircle-encoded gRNA genes have been identified. Six overlapping minicircle-encoded gRNAs mediate editing for the 5'-pan-edited MURF4 gene and two for the 5'-edited COIII gene. The pan-edited RPS12 mRNA is edited by seven minicircle-encoded gRNAs and one maxicircle-encoded gRNA.
D A, Maslov, L, Simpson
openaire +2 more sources
Advanced Science, EarlyView.We identify a Lepidoptera‐conserved testis‐specific arylalkylamine N‐acetyltransferase (LTNAT) that governs male moth fertility via a novel mechanism. LTNAT loss disrupts eupyrene sperm mitochondrial derivatives and impairs apyrene sperm motility, offering a safe molecular target for innovative pesticides and genetic pest control.
Hao Sun +5 more
wiley +1 more source
The Regulatory Role of Iron Transporter SLC39A13 in Liver Fibrosis
Advanced Science, EarlyView.SLC39A13/ZIP13, a newly discovered intracellular iron transporter, delivers iron to the ER/Golgi to catalyze procollagen hydroxylation during collagen maturation. Here, we systematically characterize the cell type‐specific functions of ZIP13 across distinct hepatic cell populations, and identify hepatic stellate cell‐specific ZIP13 as a promising and ...
Shanshan Guo +5 more
wiley +1 more source
gRNA validation for wheat genome editing with the CRISPR-Cas9 system
BMC Biotechnology, 2019 BackgroundThe CRISPR-Cas9 system is a powerful and versatile tool for crop genome editing. However, achieving highly efficient and specific editing in polyploid species can be a challenge.
Taj Arndell +5 more
semanticscholar +1 more source