Results 41 to 50 of about 269 (206)
Epilepsia, EarlyView.Abstract Seizure frequency has been the primary endpoint in epilepsy trials, with enrollment usually requiring ≥4 seizures per month. This threshold is more and more misaligned with clinical reality, as the availability of more treatment options has reduced baseline seizure burden, with a risk of excluding a proportion of patients from trials. Although
Stéphane Auvin, Jacqueline French
wiley +1 more source
The BLM-TOP3A-RMI1-RMI2 proximity map reveals that RAD54L2 suppresses sister chromatid exchanges
EMBO ReportsHomologous recombination is a largely error-free DNA repair mechanism conserved across all domains of life and is essential for the maintenance of genome integrity.
Jung Jennifer Ho +7 more
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Telomere and ribosomal DNA repeats are chromosomal targets of the bloom syndrome DNA helicase
BMC Cell Biology, 2003 Background Bloom syndrome is one of the most cancer-predisposing disorders and is characterized by genomic instability and a high frequency of sister chromatid exchange. The disorder is caused by loss of function of a 3' to 5' RecQ DNA helicase, BLM. The
Paric Enesa +2 more
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Epilepsia Open, EarlyView.Abstract This review examines how recent genetic and technological advances have transformed our understanding and treatment of genetic epilepsies (GEs), with a focus on disorders involving GABAA receptors (GABRs) and the GABA transporter 1 (GAT‐1) encoded by SLC6A1.
Juexin Wang, Jing‐Qiong Kang
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The C-terminal domain of the Bloom syndrome DNA helicase is essential for genomic stability
BMC Cell Biology, 2001 Background Bloom syndrome is a rare cancer-prone disorder in which the cells of affected persons have a high frequency of somatic mutation and genomic instability.
Noonan James P +2 more
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Future in Educational Research, EarlyView.ABSTRACT A Summer Research Program (SRP) at a large public university in the southern United States prepares undergraduate STEM majors to engage with high school students from underrepresented backgrounds. Grounded in culturally responsive pedagogy (CRP) and layered mentorship, SRP fosters inclusive teaching practices and professional growth among ...
Mariam A. Manuel +4 more
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Bloom syndrome with lung involvement
Lung India, 2009 We report a case of a 24-year old male presented with cough and breathlessness with diabetes mellitus and diagnosed as a case of bloom syndrome. He was a product of consanguineous marriage, having short stature, dolicocephaly, polydactyly, prominent nose
Nair Girija +6 more
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Buck Wheat: Nutritional, Bioactive Characteristics, Health Benefits, and Side Effects
Future Postharvest and Food, EarlyView.ABSTRACT Micronutrient deficits have resulted from an over‐reliance on a small number of cereal crops for food security. The agricultural sector faces severe sustainability issues due to the rapid growth of the world's population and sudden climatic changes.
Momina Farooq +2 more
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Structural mechanisms of human RecQ helicases WRN and BLM
Frontiers in Genetics, 2014 The RecQ family DNA helicases WRN (Werner syndrome protein) and BLM (Bloom syndrome protein) play a key role in protecting the genome against deleterious changes. In humans, mutations in these proteins lead to rare genetic diseases associated with cancer
Ken eKitano
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The dynamics of homologous pairing during mating type interconversion in budding yeast. [PDF]
PLoS Genetics, 2006 Cells repair most double-strand breaks (DSBs) that arise during replication or by environmental insults through homologous recombination, a high-fidelity process critical for maintenance of genomic integrity.
Peter L Houston, James R Broach
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