FROM DISEASE MODELLING TO PERSONALISED THERAPY IN PATIENTS WITH CEP290 MUTATIONS [VERSION 1; REFEREES: 2 APPROVED]

From disease modelling to personalised therapy in patients with CEP290 mutations [version 1; referees: 2 approved]

Mutations that give rise to premature termination codons are a common cause of inherited genetic diseases.When transcripts containing these Mugs changes are generated, they are usually rapidly removed by the cell through the process of nonsense-mediated decay.Here we discuss observed changes in transcripts of the centrosomal protein CEP290 resultin

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Absent upper blind Pouch in a case of tracheo-esophageal fistula

A common upper airway and digestive tract is a rare congenital anomaly that is usually fatal and its exact incidence is not known.It is a diagnostic challenge as it requires high index of suspicion.It should be considered in a neonate with respiratory distress in a non-vigorous baby requiring endotracheal intubation, which is difficult even in expe

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A diploblastic radiate animal at the dawn of cambrian diversification with a simple body plan: distinct from Cnidaria?

Microfossils of the genus Punctatus include developmental stages such as blastula, gastrula, and hatchlings, and represent the most complete developmental sequence of animals available from the earliest Cambrian.Despite the extremely well-preserved specimens, the evolutionary position of Punctatus has relied only on their conical remains and they h

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