Sentence examples for mutations affecting human from inspiring English sources

Likewise, many mutations affecting human genetics diseases have defied a priori knowledge [ 30].

It is widely believed that the majority of clinical mutations affecting human G6PD result in destabilisation of the folded native state.

Turchin et al.[ 56] show that mutations affecting human height have been subject to selection because, at many loci, the alleles for increased height have higher frequency in northern than in southern Europe.

Analysis of this data set showed a total of 270 mutations affecting 248 human genes (231 SNVs, 34 indels and 5 splice junction mutations SJMs), with a low frequency of mutations per case (∼7.1 in hAPLs and ∼3.5 in mAPLs).

The majority of mutations affecting the human fibrillin-1 gene, FBN1, result in Marfan syndrome (MFS), a common connective tissue disorder characterised by tall stature, ocular and cardiovascular defects.

Except for the FGFR2 and PIK3CA mutations that affected human tumour cell lines, the remaining 8 mutations were found in samples derived from primary tumours and were somatic in origin as assessed by the sequencing of the matched normal DNA (data not shown).

During the past decade, mutations affecting liability to human disease have been discovered at a phenomenal rate, and that rate is increasing.

Mutations affect each human calvarial suture (coronal, sagittal, metopic, and lambdoid) differently, suggesting different gene expression patterns exist in each human suture.

It is important to elucidate whether these heterogenic loss-of-function mutations of SASPase affect human skin physiology.

To understand how mutations in SPG4 affect human neurons, we generated human induced pluripotent stem cells (hiPSCs) from fibroblasts of two patients carrying a c.1684C>T nonsense mutation and from two controls.

Some human mutations affecting hair keratin genes have been recognized.