Sentences with phrase «nonsense mutations in»

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma.

Transfer RNA (tRNA) suppression of nonsense mutations in prokaryotic systems has been widely used to study the structure and function of different prokaryotic genes.

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits.

Both sisters appeared to share a de novo (i.e. newly arisen) nonsense mutation in a gene called Additional Sex Combs Like 3 (ASXL3).

Sequencing of ARL15 in 375 severely insulin resistant patients identified four rare heterozygous variants, including an early nonsense mutation in a proband with femorogluteal lipodystrophy and non classical congenital adrenal hyperplasia, and an essential splice site mutation in a proband with partial lipodystrophy and a history of childhood yolk sac tumour.

From this approach, the research team discovered the nonsense mutation in LGR4 and its large effect on osteoporosis and osteoporosis related traits.

Not exact matches

«These results further support our clinical findings demonstrating the production of full - length functional protein in nonsense mutation Duchenne muscular dystrophy and cystic fibrosis,» said Stuart W. Peltz, Ph.D., co-founder and chief executive officer of PTC Therapeutics.

To answer this question, the researchers created numerous premature stop signs, known as nonsense mutations, in test genes in human and yeast cells.

Based on the similarity in the DNA sequences located near the caspase - 12 gene, Tyler - Smith and his colleagues estimate that the nonsense mutation occurred about 500,000 years ago in Africa.

People with a so - called «nonsense» mutation in this gene make a shortened form of the caspase - 12 protein.

Although mutations come in many varieties, one type, called nonsense mutations, involve the seemingly innocuous change of a single letter in the coded message — a change that causes the gene's message to prematurely read «stop.»

Using this analysis, the researchers identified deletions in the coding region of the gene (in exons E2 to E9, E5 to E9, E8, E10, E14, and E1 to E15), duplications (E11 to E12) on two chromosomes, and a nonsense mutation.

RESULTS: Here we report the identification of a de novo nonsense truncating mutation in one patient with SCZ, in kinesin 17, a synaptic motor protein.

The four unrelated patients in the Bainbridge study had de novo nonsense and frameshift mutations in ASXL3 (not ASXL1).

Out of a total of five positively selected SNPs, four represented nonsense mutations resulting in stop codons, three of these in a single ApiAP2 transcription factor gene, and one in SRPK1.

No nonsense or essential splice site mutations were found in 2,479 controls, while five such variants were found in the ExAC database.

We describe heterozygous ACTB deletions and nonsense and frameshift mutations in 33 individuals with developmental delay, apparent intellectual disability, increased frequency of internal organ malformations (including those of the heart and the renal tract), growth retardation, and a recognizable facial gestalt (interrupted wavy eyebrows, dense eyelashes, wide nose, wide mouth, and a prominent chin) that is distinct from characteristics of individuals with BRWS.

Consistent with this, WDR26 loss - of - function single - nucleotide mutations identified in these subjects lead to nonsense - mediated decay with subsequent reduction of RNA expression and protein levels.

LOF mutations were defined as nonsense, frameshift, and splice - site variants, along with missense variants resulting in < 25 % of wild - type ANGPTL3 activity in a mouse model.

The underlying mutation responsible for the phenotype in the iris pigment dispersion mouse was identified as a C to T substitution that resulted in a nonsense mutation, Arg150stop.

Co-starring Lucky Logan's Jack Quaid (who once again gets kicked around), Rampage is a bi-polar buddy picture that teases complaint cowardice and rewards righteous banter while making a mockery out of the nonsense - spouting scientists trying to explain — in a coherent manner — why this mutation is occurring.

In Irish Setters, rcd1 is caused by a nonsense mutation G > A transition at nucleotide position 2420 in PDEB genIn Irish Setters, rcd1 is caused by a nonsense mutation G > A transition at nucleotide position 2420 in PDEB genin PDEB gene.

In 2005 a nonsense mutation (c. 619C > T) in exon 4 in the canine CLN5 gene was reported to be linked to a specific form of Neuronal Ceroid Lipofuscinosis found in Border CollieIn 2005 a nonsense mutation (c. 619C > T) in exon 4 in the canine CLN5 gene was reported to be linked to a specific form of Neuronal Ceroid Lipofuscinosis found in Border Colliein exon 4 in the canine CLN5 gene was reported to be linked to a specific form of Neuronal Ceroid Lipofuscinosis found in Border Colliein the canine CLN5 gene was reported to be linked to a specific form of Neuronal Ceroid Lipofuscinosis found in Border Colliein Border Collies.