Accurate Prediction and Validation of Response to Endocrine Therapy in Breast Cancer.
London, United Kingdom. In J Clin Oncol, Aug 2015
RESULTS: The molecular response to letrozole was characterized and a four-gene classifier of clinical response was established (accuracy of 96%) on the basis of the level of two genes before treatment (one gene [IL6ST] was associated with immune signaling, and the other [NGFRAP1] was associated with apoptosis) and the level of two proliferation genes (ASPM, MCM4) after 2 weeks of therapy.
MCPH1: a window into brain development and evolution.
Sydney, Australia. In Front Cell Neurosci, 2014
In this context, causative genes of human autosomal recessive primary microcephaly, such as ASPM and MCPH1, are attractive candidates, as many of them show positive selection during primate evolution.
Molecular genetics of human primary microcephaly: an overview.
In Bmc Med Genomics, 2014
Twelve MCPH loci (MCPH1-MCPH12) have been mapped to date from various populations around the world and contain the following genes: Microcephalin, WDR62, CDK5RAP2, CASC5, ASPM, CENPJ, STIL, CEP135, CEP152, ZNF335, PHC1 and CDK6.
Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.
Lahore, Pakistan. In Orphanet J Rare Dis, 2010
So far, seven genetic loci (MCPH1-7) for this condition have been mapped with seven corresponding genes (MCPH1, WDR62, CDK5RAP2, CEP152, ASPM, CENPJ, and STIL) identified from different world populations.
Many roads lead to primary autosomal recessive microcephaly.
Paris, France. In Prog Neurobiol, 2010
Genetic causes of MCPH subtypes 1-7 include mutations in genes encoding microcephalin, cyclin-dependent kinase 5 regulatory associated protein 2 (CDK5RAP2), abnormal spindle-like, microcephaly associated protein (ASPM), centromeric protein J (CENPJ), and SCL/TAL1-interrupting locus (STIL) as well as linkage to the two loci 19q13.1-13.2 and 15q15-q21.
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders
Seattle, United States. In Unknown Journal, 2009
The genes in which biallelic mutation is known to cause MCPH-SCKS spectrum disorders are separated into those that are currently known to be associated with: MCPH phenotype only: MCPH1 (locus name MCPH1), WDR62 (MCPH2), CDK5RAP2 (MCPH3), CASC5 (MCPH4), ASPM (MCPH5), STIL (MCPH7), CEP135 (MCPH8), and CDK6 (MCPH12); SCKS phenotype only: ATR (locus name SCKL1), NIN (SCKL7), and ATRIP ; and MCPH, SCKS, and/or intermediate phenotypes: RBBP8 (locus name SCKL2), CEP152 (MCPH9/SCKL5), CENPJ (MCPH6/SCKL4), CEP63 (SCKL6), and PHC1 (MCPH11).