Results 31 to 40 of about 1,065,812 (264)
The Differential Equation of the Distribution of Gene Frequencies [PDF]
Proceedings of the National Academy of Sciences, 1945 Not ...
openaire +3 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background PIK3CA‐related overgrowth spectrum (PROS) includes several rare overgrowth disorders resulting from somatic gain‐of‐function mutations in PIK3CA. Despite treatment advances, including the recent approval of alpelisib for PROS in the United States, literature detailing the patient experience with PROS is limited.
Vamsi Bollu +8 more
wiley +1 more source
Molecular Spectrum of Beta-Globin Mutations in Transfusion-Dependent Patients with Thalassemia in Qazvin Province, Iran [PDF]
Iranian Journal of Medical Sciences, 2009 Background: Beta thalassemia is a common inherited disease,resulting from one or more of 200 different mutations in the betaglobingene. Qazvin province has attracted migrations of severaldifferent populations due to industrialization during the past ...
Mohammad Reza Sarookhani +2 more
doaj
Appearance frequency modulated gene set enrichment testing
BMC Bioinformatics, 2011 Background Gene set enrichment testing has helped bridge the gap from an individual gene to a systems biology interpretation of microarray data.
Sartor Maureen A, Ma Jun, Jagadish HV
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Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Sickle cell disease (SCD) is a chronic, inherited hemoglobinopathy that requires frequent hospitalization for disease‐related complications. Canadian data on inpatient care is limited. This study compared caregiver‐reported hospital experiences of children with SCD to those with cystic fibrosis (CF), a chronic, autosomal recessive ...
Hailey M. Zwicker +11 more
wiley +1 more source
Frontiers in PharmacologyIntroductionIn collaboration with the Minnesota Hmong community, we have previously discovered significant differences in allele frequencies for key Single Nucleotide Variations (SNVs) within Very Important Pharmacogenes (VIPs) between Hmong and East ...
Boguang Sun +8 more
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Pediatric Blood &Cancer, EarlyView.ABSTRACT Background An internal tandem duplication in the gene encoding Fms‐like tyrosine kinase 3 (FLT3‐ITD) is associated with high relapse risk and poor prognosis in acute myeloid leukemia (AML) and plays a crucial role in treatment decisions. Measurable residual disease (MRD) analysis of FLT3‐ITD during and after treatment has shown prognostic ...
Sofie Johansson Alm +11 more
wiley +1 more source
Improving the efficiency of homologous recombination by chemical and biological approaches in Yarrowia lipolytica. [PDF]
PLoS ONE, 2018 Gene targeting is a challenge in Yarrowia lipolytica (Y. lipolytica) where non-homologous end-joining (NHEJ) is predominant over homologous recombination (HR). To improve the frequency and efficiency of HR in Y.
In-Seung Jang +4 more
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Pediatric Blood &Cancer, EarlyView.ABSTRACT Claudin‐6 has emerged as a promising immunotherapeutic target, yet protein‐level data in atypical teratoid/rhabdoid tumors (AT/RTs) have been inconsistent. We analyzed 36 well‐characterized AT/RT samples and found membranous claudin‐6 protein expression in 58% of cases, with striking enrichment in the molecular subgroup AT/RT‐TYR (100%) and ...
Victoria E. Fincke +4 more
wiley +1 more source
Genetic pattern and penetrance of polycystic kidney disease in the Western region of Iraq [PDF]
مجلة جامعة الانبار للعلوم الصرفة, 2012 The aims of this study are to identify the genetic pattern, estimation of gene frequency, penterance, prevalence of PKD, and to furnish an appropriate plan for genetic counselling specific for these families under investigation.
Louay Mohammed Alani
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