Sentences with phrase «biallelic mutations»

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.

Biallelic mutations in the 3» exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.

Moreover, colonies # 34 and # 40 have biallelic mutations in both genes.

The single - gene knockout fibroblasts were successfully used for somatic cell nuclear transfer (SCNT) and resulted in live - born goats harboring biallelic mutations.

Colonies # 5, # 45 and # 79 had biallelic mutations in all four target genes (arrowhead).

Colonies # 4, # 16 and # 22 carry biallelic mutations of MSTN.

The RFLP assay and DNA sequencing showed that all three goats carried biallelic mutations in the MSTN gene (Figure 3A and Figure 3B).

Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis.

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.

Not exact matches

Thirteen tumors had two non-silent MAP3K1 mutations (biallelic loss), and most of the mutations are highly deleterious (nonsense, frameshift, etc.) suggesting that this gene may act as a tumor suppressor.

It is caused by biallelic loss - of - function mutations in the gene COL7A1, which codes for the extracellular protein collagen VII.

Amplification of the JAK2 locus has been described in Hodgkin disease and mediastinal B - cell lymphoma, 18,19 and biallelic inactivating mutations in suppressor of cytokine signaling - 1 (SOCS - 1), a negative regulator of JAK2, have been identified in mediastinal B - cell lymphoma.20 Genomic analysis of JAK2 and of other JAK - STAT pathway members may lead to the identification of mutations of the JAK - STAT pathway in lymphoid diseases and other malignancies.

Purpose: Mutations in GBA cause Gaucher disease when biallelic, and are strong risk factors for Parkinson's disease when heterozygous.

Using CRISPR / Cas9 technology, we generated biallelic knockout mutations in host genes encoding IRF5 and IL - 10RA in iPSCs, and confirmed their roles in limiting chlamydial infection in macrophages.