Sentence examples for missense point from inspiring English sources

Over 90% contain a missense point mutation (C134W) in the FOXL2 gene at 3q22.3.

The aim of our study was to perform an immunohistochemical and ultrastructural analysis of the nuclear architecture of cardiomyocytes from an end-stage DCM patient with a missense point mutation in the exon 3 of the LMNA gene which is predicted to result in a D192G substitution.

The missense point mutation in nompC4 was confirmed by sequencing.

pCDNA-Flag wildtype menin and MEN1 missense point mutants have been described [12].

Additionally, a subset of MEN1-associated missense point mutants, fail to undergo DNA damage dependent phosphorylation.

Out of the 40 pathogenic sequence variants reported in frataxin, at least 15 missense point mutations have been described.

To determine whether or not MEN1-associated missense point mutants are phosphorylated, we screened a panel of mutants for the ability to undergo Ser487, Ser543 and Ser394 phosphorylation.

A subset of MEN1-associated missense point mutants failed to become phosphorylated after DNA damage and may link altered tumor suppressor function to the DNA damage response.

We have identified a zebrafish mutant slytherin (srn), which harbors a missense point mutation in GDP-mannose 4,6 dehydratase (GMDS), the rate-limiting enzyme in protein fucosylation, including that of Notch.

The physiological role of the JH2 domain in the regulation of JAK2 activity was highlighted by the discovery of the acquired missense point mutation V617F in myeloproliferative neoplasms (MPN).

A major question in the menin field is the link between missense point mutations and their loss of various menin functions— in particular, some but not all of these mutants lack the ability to interact with KMT2A/KMT2D [12].