Results 41 to 50 of about 444,809 (263)
Molecular Oncology, EarlyView.Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche +10 more
wiley +1 more source
Journal of Applied Hematology, 2019 This report describes a 32-year-old Saudi nonsmoker man who presented to the emergency department with a history of left-sided hemiparesis and no risk factors for cerebral stroke being reported, except type II diabetes mellitus.
Mohammed AlSheef +3 more
doaj +1 more source
A Novel Homozygous Variant in the Aspartoacylase Gene Causes Canavan Disease-Case Report [PDF]
Glu178 is the active site residue essential for substrate affinity and catalytic activity of the aspartoacylase enzyme. Sanger sequencing in an infant with Canavan disease revealed a homozygous ASPA: c.532G>A: p. (Glu178Lys) variant.
Shilpa Krishnapura Lakshminarayana +7 more
core +1 more source
Molecular Oncology, EarlyView.We established the avian chorioallantoic membrane (CAM) assay as a scalable in vivo model for studying circulating tumor cells (CTCs). Human gastrointestinal tumors spontaneously released genetically validated CTCs that were detected across multiple platforms, demonstrating that the CAM model provides an accessible tool for investigating early cancer ...
Dennis Roth +17 more
wiley +1 more source
Biol 250: Heterozygous vs Homozygous Sneeze SNP [PDF]
, 2020 Research Question: After testing the DNA, will the trait be homozygous or heterozygous for Photic Sneeze SNP? Hypothesis: The trait for the Sneeze SNP will be homozygous.
Davis, Jacob
core +1 more source
The Egyptian Journal of Internal Medicine, 2019 Here we present a rare case of hereditary thrombophilia due to transfer of multiple hereditary thrombophilic factors from father and mother with lethal outcome.
Afaf Hemeda
doaj +1 more source
, 2019 Aromatase deficiency is a rare, autosomal recessive disorder in which affected patients fail to synthesize normal estrogen. Herein, we report a 46, XX patient born with virilised external genitalia.
Fatma Dursun +3 more
core +1 more source
FEBS Open Bio, EarlyView.The presence of biotin‐binding avidin proteins in fish and their biological significance are poorly characterized. We cataloged fish avidins and demonstrate that they are widely present and evolutionarily conserved. We created avd knockout zebrafish and show that zebavidin is dispensable for development and that resistance of avd knockout embryos in ...
Anni K. Saralahti +5 more
wiley +1 more source
IGF2 knockout reduces but does not abolish osteosarcoma growth in vitro and in vivo
FEBS Open Bio, EarlyView.To test whether endogenous IGF2 promotes osteosarcoma growth, IGF2 was knocked out in Saos2 cells via CRISPR‐Cas9. KO cells showed reduced proliferation in vitro, and knockout xenografts in mice reached only ~25% of wild‐type tumor volume. Insulin‐like growth factor 2 (IGF2) is implicated in osteosarcoma, but direct functional evidence of its role is ...
Shun Yao, Marco Archetti
wiley +1 more source
The Clinical Manifestation of Homozygous Huntington's Disease
Clinical Case ReportsHuntington's disease is an incurable neurodegenerative disease with deficits in many areas including cognitive, psychiatric, and most notably, motor. It is autosomal dominant, meaning one affected allele is enough to express the condition.
Brishti Sengupta, Pritha Dasgupta
doaj +1 more source