Results 151 to 160 of about 640,277 (286)

A Translational Roadmap for Neurological Nonsense Mutation Disorders. [PDF]

Int J Mol Sci
Li J, Zhu Z, Xu S.
europepmc   +1 more source

Nonsense-Mutation [PDF]

, 2018
openaire   +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

Intermittent hyperinsulinemic hypoglycemia due to a <i>KCNJ11</i> nonsense mutation in a child with febrile status epilepticus. [PDF]

JCEM Case Rep
Otaka T, Kubo M, Koyama S.
europepmc   +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

Biallelic MCUR1 nonsense mutation associated with vacuolar myopathy and altered mitochondrial calcium signaling. [PDF]

Acta Neuropathol Commun
Haschke AM, von Renesse A, Graceffo E, Morales-Gonzalez S, Prigione A, Hübner C, Stenzel W, Schuelke M.   +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

A nonsense mutation in the PRKG2 gene in dalmatian dogs with chondrodysplasia. [PDF]

PLoS One
Mäkeläinen S, Ekman S, Hytönen MK, Lohi H, Kyöstilä K, Simon T, Andersson G, Hedhammar Å, Hansson K, Bergström TF.   +9 more
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Identification of a novel nonsense mutation (c.1369 C > T) in the WAS gene in a neonate: a case report and literature review. [PDF]

BMC Pediatr
Deng S, Liu X, Chen S, Wan L, Dong W, Kang L.   +5 more
europepmc   +1 more source