A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption [PDF]
, 2009 Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder which is characterized by impaired intestinal folate malabsorption and impaired folate transport into the central nervous system.
Cole, Trevor +5 more
core +2 more sources
Mice doubly deficient in Six4 and Six5 show ventral body wall defects reproducing human omphalocele
Disease Models & Mechanisms, 2018 Omphalocele is a human congenital anomaly in ventral body wall closure and may be caused by impaired formation of the primary abdominal wall (PAW) and/or defects in abdominal muscle development.
Masanori Takahashi +3 more
doaj +1 more source
Essential gene pathways for glioblastoma stem cells: clinical implications for prevention of tumor recurrence. [PDF]
, 2011 Glioblastoma (World Health Organization/WHO grade IV) is the most common and most aggressive adult glial tumor. Patients with glioblastoma, despite being treated with gross total resection and post-operative radiation/chemotherapy, will almost always ...
Choe, Jinny +6 more
core +1 more source
Drug repositioning by kernel-based integration of molecular structure, molecular activity, and phenotype data. [PDF]
PLoS ONE, 2013 Computational inference of novel therapeutic values for existing drugs, i.e., drug repositioning, offers the great prospect for faster and low-risk drug development.
Yongcui Wang +3 more
doaj +1 more source
Molecular genetic studies of complex phenotypes [PDF]
Translational Research, 2012 The approach to molecular genetic studies of complex phenotypes evolved considerably during the recent years. The candidate gene approach, which is restricted to an analysis of a few single-nucleotide polymorphisms (SNPs) in a modest number of cases and controls, has been supplanted by the unbiased approach of genome-wide association studies (GWAS ...
openaire +2 more sources
Molecular phenotypes of ductal carcinoma-in-situ and invasive ductal carcinoma: A comparative study
Indian Journal of Pathology and Microbiology, 2012 Aims and Objectives: This study was aimed at analyzing the prevalence of molecular phenotypes in invasive ductal carcinoma (IDC) and coexisting ductal carcinoma-in-situ (DCIS) and to correlate with clinicopathological features.
Shilpa Gupta +4 more
doaj +1 more source
iScience, 2019 Summary: Neuroprotection is essential for the maintenance of normal physiological functions in the nervous system. This is especially true under stress conditions.
Pengfei Guo +11 more
doaj +1 more source
Specific Preferences in Lineage Choice and Phenotypic Plasticity of Glioma Stem Cells Under BMP4 and Noggin Influence [PDF]
, 2015 Although BMP4-induced differentiation of glioma stem cells (GSCs) is well recognized, details of the cellular responses triggered by this morphogen are still poorly defined.
Arakaki, Naomi +10 more
core +1 more source
Hypoxia in the Initiation and Progression of Neuroblastoma Tumours [PDF]
, 2020 Neuroblastoma is the most frequent extracranial solid tumour in children, causing 10% of all paediatric oncology deaths. It arises in the embryonic neural crest due to an uncontrolled behaviour of sympathetic nervous system progenitors, giving rise to ...
Gómez Muñoz, María Ángeles +3 more
core +1 more source
Analysis of phenotype array data from Biolog MicroPlates™
浙江大学学报. 农业与生命科学版, 2004 Biolog MicroPlates™ are employed to characterize Trichoderma isolates based on differential assimilation of test substrates and redox reactions in a 96-well test plate.
John Bissett, Carol Ann Nolan
doaj +1 more source