Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 8 of 8 for “"Triplet repeat"”.
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Analysis of Huntington Disease Caregiver Quality of Life Using The Enroll-Hd Population
… in an autosomal dominant manner caused by a CAG triplet repeat expansion within the <em>HTT</em> gene. Thus, HD is unique among neurodegenerative disorders with a caregiver population often burdened by both the caregiver role and concern over transmission to at-risk relatives. This study …
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Die Rolle von Varianten des Kalzium-aktivierten Kaliumkanals KCNN3 bei sporadischer Migräne mit und ohne Aura
… untersucht, inwiefern ein hochpolymorpher CAG-repeat-tragender Abschnitt des KCNN3-Gens zur Entstehung von sporadischer Migräne mit bzw. ohne Aura beiträgt. Der methodische Teil dieser Arbeit beinhaltete die Etablierung neuer Methoden zum Nachweis von triplet-repeat-Längenpolymorphismen. Dabei …
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Anc1 : a new player in the cellular response to DNA damage
… of the Huntington's Disease-associated CAG triplet repeat. Additionally, we demonstrate a role for ANC1 in the global transcriptional response to MMS treatment: expression changes in transcripts regulated in response to environmental stress are significantly abrogated in ANC1 cells.
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Identification of Loss of Specific FMRP-RNA Interactions as a Cause of Fragile X Syndrome
… analyses. The disease is usually caused by a triplet repeat expansion in the 5'UTR of the FMR1 gene leading to loss of transcription of FMR1 mRNA, but one severely affected patient has an isoleucine to asparagine point mutation in one of the RNA-binding domains of FMRP, hnRNP K homology …
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INVESTIGATING THE IMMEDIATE CONSEQUENCES OF NORMAL AND MUTANT HTT LOSS IN HD-HESC THROUGH THE DTAG SYSTEM.
… disorder cause by a dominant CAG triplet repeat expansion (poly-glutamine(Q) in the protein) in the first exon of the Huntingtin gene (HTT). In the healthy population, the number of CAG repeats range between 9 and 35, while an expansion above 36 CAG repeats causes the manifestation …
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AR-A IPSCS: GENERATION OF AN ADVANCED CELLULAR MODEL TO INVESTIGATE A NOVEL THERAPEUTIC APPROACH FOR SBMA
… quality. SBMA is caused by an expansion of a CAG triplet repeat present in the region encoding the first exon of the androgen receptor (AR) gene, which is located on the X chromosome. SBMA is not only an X-linked inherited disease but also is dependent on levels of testosterone (T) and its active …
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Definition of The Landscape of Chromatin Structure At The Frataxin Gene In Friedreich’S Ataxia
… gene. FRDA patients have expansion of GAA repeats in intron 1 of the <em>FXN</em> gene in both alleles. A number of studies demonstrated that specific histone deacetylase inhibitors (HDACi) affect either histone modifications at the <em>FXN</em> gene or <em>FXN</em> expression in FRDA …