Sentence examples for mutations cause an from inspiring English sources

Whereas KMT2C or ASH1L haploinsufficiency results in a predominantly neurodevelopmental phenotype with occasional physical anomalies, KMT5B mutations cause an overgrowth syndrome with intellectual disability.

These mutations cause an abnormal accumulation of Notch3 in the cytoplasmic membrane of vascular smooth muscle cells both in cerebral and extracerebral vessels, which appear as granular osmiophilic deposits on electron microscopy [4].

Most of these mutations cause an increase in Aβ by interfering with APP processing.

[30] The broad motif makes it unlikely that different CAPN3 mutations cause an LGMD phenotype due to the deregulation of only one or two substrates.

OSW4 was also identified in an earlier screen as LOH1, a gene in which mutations cause an increased rate of loss of heterozygosity [35].

In the loss of function mutants, transcripts of three muscle structural genes (Act 88F, mhc, and Tn I) are increased, and the stronger mutations cause an ∼50% increase in myofibril size.

When mutations cause a high population of ON or OFF states, or lead to an irreversible change in active site shape and dynamics, the allosteric diseases occur [13].

Genetic mutations cause a thickening of the wall of the heart, reducing its capacity to deal with accelerated heartbeats.

These mutations cause a reduction in O-mannosylation of α-dystroglycan, which results in WWS.

TPI mutations cause a rare metabolic syndrome, TPI deficiency.

VapB mutations cause a familial type of amyotrophic lateral sclerosis (ALS8) (42), and SPG21/maspardin mutations cause spastic paraplegia 21 (43).