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We report an inborn error of metabolism caused by an expansion of a GCA-repeat tract in the 5' untranslated region of the gene encoding glutaminase () that was identified through detailed clinical and biochemical phenotyping, combined with whole-genome sequencing. The expansion was observed in three unrelated patients who presented with an early-onset delay in overall development, progressive ataxia, and elevated levels of glutamine. In addition to ataxia, one patient also showed cerebellar atrophy. The expansion was associated with a relative deficiency of messenger RNA transcribed from the expanded allele, which probably resulted from repeat-mediated chromatin changes upstream of the repeat. Our discovery underscores the importance of careful examination of regions of the genome that are typically excluded from or poorly captured by exome sequencing.
This article was published in the following journal.
Name: The New England journal of medicine
To study genetic polymorphisms of 23 autosomal short tandem repeat (STR) loci among ethnic Han Chinese from southern China.
Chimerism testing is used to monitor engraftment and risk of relapse after allogeneic hematopoietic stem cell transplant for hematological malignancy. Although short tandem repeat (STR) method is wide...
Intermediate-length ATXN2 CAG repeats are a risk factor for amyotrophic lateral sclerosis (ALS). Here we report on a female patient with heterozygous repeat expansion mutation in the CACNA1A gene pres...
A guanine mononucleotide repeat (MNR) in the rpsA (tp0279) gene was evaluated for improved strain discrimination using 72 Treponema pallidum-positive specimens. The tandem repeat combined with the enh...
At least 40 human diseases are associated with repeat expansions; yet, the mutational origin and instability mechanisms remain unknown for most of them. Previously, genetic epidemiology and predisposi...
This phase I/II trial studies the side effects and best dose of glutaminase inhibitor CB-839 hydrochloride, and to see how well it works when given together with osimertinib in treating pa...
Evaluating and comparing the short term effects of different palatal expanders on the amount of palatal expansion and buccal tipping of posterior teeth. Hypothesis: H0: There is no...
This phase I/II trial studies the best dose and side effects of glutaminase inhibitor CB-839 and how well it works with panitumumab and irinotecan hydrochloride in treating patients with R...
This clinical trial expansion is to offer patients, who are not enrolled into the Phase I/II trial, a chance of treatment, to extend the experience in this gene therapy, and to increase th...
The purpose of this study is to evaluate the efficacy and toxicity of tandem HDCT/ASCR in children with high-risk neuroblastoma. In the present study, a single arm trial of tandem HDCT/ASC...
Copies of DNA sequences which lie adjacent to each other in the same orientation (direct tandem repeats) or in the opposite direction to each other (INVERTED TANDEM REPEATS).
Tandem arrays of moderately repetitive (5-50 repeats) short (10-60 bases) DNA sequences found dispersed throughout the genome and clustered near telomeres. Their degree of repetition is two to several hundred at each locus. Loci number in the thousands but each locus shows a distinctive repeat unit. Minisatellite repeats are often called variable number of tandem repeats.
An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs.
A variety of simple di- (DINUCLEOTIDE REPEATS), tri- (TRINUCLEOTIDE REPEATS), tetra-, and pentanucleotide tandem repeats (usually less than 100 bases long). They are dispersed in the euchromatic arms of most chromosomes. They are also known as short tandem repeats (STRs).
A hereditary condition clinically resembling HYPOPARATHYROIDISM, but caused by failure of response to rather than deficiency of parathyroid hormones. It is characterized by hypocalcemia and hyperphosphatemia, and is commonly associated with short stature, obesity, short metacarpals, and ectopic calcification. (Dorland, 27th ed)
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...