Results 101 to 110 of about 585,191 (278)

Mini‐Hairpin DNA: Extraordinarily Stable Structure and Its Applications

Chemistry – A European Journal, EarlyView.
Mini‐hairpin DNA fragments containing GCGAAGC and GCGAAAGC form exceptionally stable hairpin‐like structures, with only two G−C pairs and one sheared G−A pair, remaining undenatured in 7 M urea and resisting nuclease digestion. These mini‐hairpin sequences frequently appear in replication and transcription origins, influence DNA sequencing fidelity ...
Michiko Kimoto, Ichiro Hirao
wiley   +1 more source

Determinants of R-loop formation at convergent bidirectionally transcribed trinucleotide repeats

Nucleic Acids Research, 2010
R-loops have been described at immunoglobulin class switch sequences, prokaryotic and mitochondrial replication origins, and disease-associated (CAG)n and (GAA)n trinucleotide repeats.
Kaalak Reddy, Mandy Tam, R. Bowater, Miriam Barber, Matthew Tomlinson, K. Nichol Edamura, Yuh-Hwa Wang, C. E. Pearson   +7 more
semanticscholar   +1 more source

De novo transcriptome sequencing and SSR markers development for Cedrela balansae C. DC., a native tree species of northwest Argentina [PDF]

, 2018
The endangered Cedrela balansae C.DC. (Meliaceae) is a high-value timber species with great potential for forest plantations that inhabits the tropical forests in Northwestern Argentina.
Acuña, Cintia Vanesa, Fernández, Paula, Fornes, Luis Fernando, Gonzalez, Sergio, Hopp, Horacio Esteban, Inza, María Virginia, Marcucci Poltri, Susana Noemí, Paniego, Norma Beatriz, Pomponio, María Florencia, Rivarola, Maximo Lisandro, Torales, Susana, Zelener, Noga   +11 more
core   +2 more sources

Effects of High‐ and Low‐Fat Meals on the Bioavailability and Pharmacokinetics of Votoplam, a HTT Gene Splicing Modifier

Clinical Pharmacology in Drug Development, EarlyView.
Abstract Votoplam is a novel, orally bioavailable, small molecule HTT gene splicing modifier that is being developed for the treatment of Huntington's disease. This was a single dose, open‐label, two‐period, crossover food effect study that evaluated the effect of high‐ and low‐fat meals on 20 mg votoplam in healthy participants. There was a washout of
Lucy Lee, Amy‐Lee Richards, Nageswara Reddy, Brian Beers, Lee Golden, Ronald Kong   +5 more
wiley   +1 more source

Trinucleotide repeats in human genome and exome

Nucleic Acids Research, 2010
Trinucleotide repeats (TNRs) are of interest in genetics because they are used as markers for tracing genotype–phenotype relations and because they are directly involved in numerous human genetic diseases.
P. Kozłowski, Mateusz de Mezer, W. Krzyzosiak   +2 more
semanticscholar   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Huntington's Disease and Huntington's Disease‐like 2 (HDL2) in Martinique

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Huntington's Disease‐like 2 (HDL2), caused by a CAG repeat expansion in JPH3, closely resembles HD. All reported HDL2 patients to date have some African ancestry. While both disorders exist in the Caribbean, their relative frequency and clinical characteristics remain largely unknown.
Ignacio Antolin‐Sanfeliz, Anna‐Gaelle Giguet‐Valard, Sophie Duclos, Cécile Cazeneuve, Chloé Angelini, Aïssatou Signaté, Russell L. Margolis, Cyril Goizet, Rémi Bellance   +8 more
wiley   +1 more source

Economic Cost of Current and Alternative Models of Multidisciplinary Care of Juvenile‐Onset Huntington's Disease

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Multidisciplinary care has been advocated for Juvenile‐onset Huntington's Disease but there has been no detailed analysis of this. Objectives To evaluate the current economic costs of providing health care for patients with Juvenile‐onset Huntington's disease (JoHD) and to model the effects and economic costs of providing a ...
Tracey A. Young, Penny A. Curtis, Jill Thompson, Aileen K. Ho, Helen Santini, Oliver W. Quarrell   +5 more
wiley   +1 more source

Trinucleotide repeats: triggers for genomic disorders?

Genome Medicine, 2010
Among the various sequence repeats that shape the human genome, trinucleotide repeats have attracted special interest as a result of their involvement in a class of human genetic disorders known as triplet repeat expansion diseases.
P. Kozłowski, K. Sobczak, W. Krzyzosiak
semanticscholar   +1 more source

Capturing Behavioral Symptoms in Huntington's Disease Using the Huntington's Disease‐Behavioral Questionnaire

Movement Disorders Clinical Practice, EarlyView.
Abstract Background The Huntington's Disease Behavioral Questionnaire (HD‐BQ) captures behavioral symptoms arising from cognitive, psychiatric, and functional domains. Recognizing the high prevalence of anosognosia in HD, the HD‐BQ incorporates patient‐ and companion‐reported versions.
Siena Rigatuso, Krisha Bagga, Shelby Hughes, Japleen Kaur, Paul E. Gilbert, Jody Corey‐Bloom   +5 more
wiley   +1 more source