Sentence examples for mutations suffer from from inspiring English sources

Furthermore, a fraction of patients carrying AID mutations suffer from various organ-specific autoimmune diseases, including diabetes mellitus, autoimmune hepatitis and Crohn's disease, via unknown mechanisms [5].

Many patients with these mutations suffer from dementia and/or ataxia.

More importantly, individuals carrying biallelic hypomorphic NBN mutations suffer from the Nijmegen breakage syndrome, being susceptible to several types of cancer.

Similarly, some CMT patients with Mfn2 mutations suffer from optic atrophy as well as deafness, cognitive dysfunction, cerebral and cerebellar abnormalities, vocal cord paresis, scoliosis, parkinsonism and psychiatric involvement (16– 216.

In this context it is of interest that some human VMCM patients that harbor p.R915H mutations suffer from ventricular septal defects, even though the hyper-phosphorylated state of the human mutant proteins might not be directly comparable to the loss-of-function situation of tie-2 mutant zebrafish embryos.

Sulfatase modifying factor 1 (SUMformylglycine-generatingting enzyme) enzymatically activates all 17 sulfatases by converting a critical cysteine in the active site to formylglycine and patients with SUMF1 mutations suffer from multiple sulfatase deficiency characterized by the combined effects of simultaneous deficiency of all sulfatases.

It has been reported that Pax3 mutant mice, the naturally occurring splotch mutation, suffer from a PTA [ 22].

Carriers of this mutation suffer from a generalized skin fragility but do not show a muscular phenotype.

FTDP-17 patients carrying this mutation suffer from an early onset, rapidly progressive frontotemporal dementia and parkinsonism in combination with epileptic seizures [ 16].

It is interesting to note that one of our patients with a BRAF mutation suffered from melanoma located in an UV-exposed area of the conjunctiva.

Both patients harboring the skipping mutation in exon 14 (IVS14+1G > A) and the patient harboring the 1845 G > T missense mutation, suffered from grade 4 toxicity (mucositis and febril neutropenia) related to 5-FU chemotherapy [ 29].