Sentences with phrase «with biallelic»

Cases with biallelic RASGRP2 variants had abnormal mucocutaneous, surgical and dental bleeding from childhood, requiring at least one blood or platelet transfusion in 78 % of cases.

ICER will develop a report assessing the comparative clinical effectiveness and value of voretigene neparvovec (LuxturnaTM, Spark Therapeutics), a potentially one - time gene therapy for vision loss associated with biallelic RPE65 - mediated retinal disease.

Not exact matches

Part 2 of this two - part article reviews lessons from Spark Therapeutics» pivotal program for Luxturna, a gene therapy approved for the treatment of patients with retinal dystrophy associated with confirmed biallelic mutation in the RPE65 gene, and summarize key considerations for the clinical development and commercialization of gene therapies.

The epigenetic silencing of p57KIP2 and KvLQT1 is achieved by switching maternal epigenotype into paternal epigenotype as manifested by the biallelic expression of LIT1 and loss of methylation of the CpG island on the maternal chromosome Interesting, LOI of LIT1 was not associated with LOI of IGF2.

Wilms» tumors with loss of imprinting showed varying degrees of biallelic methylation in the H19 upstream repeat region also affecting one of the 42 bp elements which leads us to suggest that pathological methylation in this region may be the epigenetic error that initiates H19 silencing.

Recently, biallelic mutations in the KLHL7 gene were reported in four families and associated with CS / CISS1, characterised by clinical features overlapping with our patients.