Results 151 to 160 of about 747,509 (280)

Sign of APOBEC editing, purifying selection, frameshift, and in-frame nonsense mutations in the microevolution of lumpy skin disease virus. [PDF]

Front Microbiol, 2023
Desingu PA, Rubeni TP, Nagarajan K, Sundaresan NR.   +3 more
europepmc   +1 more source

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

Developmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell, Tracy Eng, Jeffrey D. Amack, David Pruyne   +3 more
wiley   +1 more source

Functional Restoration of BRCA1 Nonsense Mutations by Aminoglycoside-Induced Readthrough. [PDF]

Front Pharmacol, 2022
Abreu RBV, Gomes TT, Nepomuceno TC, Li X, Fuchshuber-Moraes M, De Gregoriis G, Suarez-Kurtz G, Monteiro ANA, Carvalho MA.   +8 more
europepmc   +1 more source

Nonsense-Mutation [PDF]

, 2018
openaire   +1 more source

Zebrafish inversin mutants develop scoliosis in the absence of laterality defects

Developmental Dynamics, EarlyView.
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick, Lorraine Eley, Deborah J. Henderson, Bill Chaudhry   +3 more
wiley   +1 more source

View of Morristown from Fort Nonsense

, 2011
From the heights of Fort Nonsense the Freedom Tower in Manhattan is visible to the east. This view demonstrates the strategic value of this place as a lookout point.Original file name fort-nonsense-in-morristown-nj_5434107196_o (1 ...
Beards, Daniel E.
core   +1 more source

PTC124 promotes mutation site-dependent readthrough of STK11 nonsense mutations and restores tumor suppressor function. [PDF]

BBA Adv
Hung CH, Wang HH, Cheng YT, Chen JY, Lin KY, Chen ST, Pan TY, Lin HJ, Chen CC, Cai BH.   +9 more
europepmc   +1 more source

Evaluation of Pharmacological Rescue of Melanocortin-4 Receptor Nonsense Mutations by Aminoglycoside. [PDF]

Life (Basel), 2022
Höpfner F, Zschunke S, Reininghaus N, Sohail I, Scheerer P, Annibale P, Biebermann H, Kühnen P.   +7 more
europepmc   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

Pharmacological readthrough and base editing for <i>ANK1</i> nonsense mutations in an erythroid model of hereditary spherocytosis. [PDF]

Mol Ther Nucleic Acids
Li S, Li J, Shi W, Nie Z, Zhang S, Ding X, Hu J, Li P, Xie X.   +8 more
europepmc   +1 more source