Results 51 to 60 of about 26,354 (249)
m6A Modulates RAN Translation From CAG Repeat Expansion RNA
Aggregate, EarlyView.We described a novel role of N6‐methyladenosine in promoting non‐canonical repeat‐associated non‐AUG translation from CAG repeat expansion RNA. ABSTRACT Nucleotide repeat expansions contribute to the development of a number of neurodegenerative diseases.
Yuxiang Sun +3 more
wiley +1 more source
A Case of Juvenile Huntington Disease in a 6-Year-Old Boy [PDF]
Journal of Movement Disorders, 2010 Huntington disease is a neurodegenerative disorder distinguished by the triad of dominant inheritance, choreoathetosis and dementia, usually with onset in the fourth and fifth decades.
Jun-Sang Sunwoo, Soon-Tae Lee, Manho Kim
doaj +1 more source
The Startling Role of Mismatch Repair in Trinucleotide Repeat Expansions
Cells, 2021 Trinucleotide repeats are a peculiar class of microsatellites whose expansions are responsible for approximately 30 human neurological or developmental disorders.
Guy-Franck Richard
doaj +1 more source
Isolation of polymorphic microsatellites in the stemless thistle (Cirsium acaule) and their utility in other Cirsium species [PDF]
, 2002 The genus Cirsium includes species with both widespread and restricted geographical distributions, several of which are serious weeds. Nine polymorphic microsatellite loci were isolated from the stemless thistle Cirsium acaule.
Alistair S. Jump +12 more
core +1 more source
Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Synpolydactyly (SPD) is a heterogeneous distal‐limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease‐causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome‐negative
Jonathan Rips +9 more
wiley +1 more source
A trinucleotide repeat biosensor [PDF]
Nature Methods, 2005 A small-molecule ligand that binds to a (CAG)n hairpin repeat is the basis of a biosensor to detect repeat length, which may help diagnose trinucleotide repeat disease severity.
openaire +1 more source
New insight into genetic disease : the role of trinucleotide repeat expansions [PDF]
, 1995 The development of genetics in the last few decades is replete with surprise phenomena and new findings. One such phenomenon is the trinucleotide repeat expansion, a new type of mutation first discovered in 1991.
Cuschieri, Alfred
core
The ubiquitin-proteasome pathway in Huntington's disease. [PDF]
, 2008 The accumulation of mutant protein is a common feature of neurodegenerative disease. In Huntington's disease, a polyglutamine expansion in the huntingtin protein triggers neuronal toxicity.
Finkbeiner, Steven, Mitra, Siddhartha
core +2 more sources
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek +8 more
wiley +1 more source
Androgen receptor polymorphisms and testicular cancer risk [PDF]
, 2015 Testicular cancer (TC) is currently the most common malignant solid tumour in Caucasian males aged 15-39 years. Epidemiological evidence suggests that its onset may be due to an imbalance in the action of steroidal sex hormones and their receptors.
CARLINI, TANIA +9 more
core +1 more source