Results 41 to 50 of about 5,667,138 (292)
The binding activity to heparan sulphate is crucial for the mitogenic activity of fibroblast growth factor 4 (FGF4) in developing mammalian embryos. There are two conserved cysteine residues in FGF family proteins, Cys-84 and Cys-151 in mouse FGF4, and ...
Yuki Kumagai +7 more
doaj +1 more source
Novel mutation in PLP1 gene in an individual with Pelizaeus-Merzbacher disease (PMD) using whole exome sequencing [PDF]
Background: Pelizaeus-Merzbacher disease (PMD) is a rare X-linked genetic disorder affecting the central nervous system. This disease is associated with abnormalities of the white matter of the brain and spinal cord.
Nagham Mahdi Hamid Abdollah +1 more
doaj +1 more source
ABSTRACT As part of the European Cooperative Study Group for Paediatric Rare Tumours initiative, we developed standard clinical practice guidelines for ovarian sex cord stromal tumors, based on comprehensive national and international cohort analyses, literature review, and a final expert consensus conference.
Dominik T. Schneider +15 more
wiley +1 more source
ABSTRACT Background Embryonal tumors comprise the majority of malignant central nervous system (CNS) neoplasms diagnosed in children under 3 years of age. Compared with their counterparts in older children, these tumors exhibit distinct molecular biology and a more aggressive clinical phenotype, while their management is complicated by the heightened ...
Sudarshawn Damodharan +3 more
wiley +1 more source
ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo +11 more
wiley +1 more source
Production of Esters in Escherichia coli Using Citrate Synthase Variants
Acetate esters comprise a wide range of products including fragrances and industrial solvents. Biosynthesis of esters offers a promising alternative to chemical synthesis because such routes use renewable carbohydrate resources and minimize the ...
Jacoby C. Shipmon +4 more
doaj +1 more source
Evaluation of Fungicide Resistance of the Brown Shot-hole Pathogens of Cherry Trees in Korea [PDF]
Cherry trees (Prunus serrulata var. spontanea, Prunus × yedoensis), a widely cultivated ornamental street trees grown in Korea, are vulnerable to variety of diseases particularly the prevailing brown shot-hole disease, thus needs effective maintenance ...
Young Min Ko +4 more
doaj +1 more source
Mutations in the Second Alternative Oxidase Gene: A New Approach to Group Aspergillus niger Strains
Alternative oxidase is a terminal oxidase in the branched mitochondrial electron transport chain of most fungi including Aspergillus niger (subgenus Circumdati, section Nigri). A second, paralogous aox gene (aoxB) is extant in some A.
Michel Flipphi +6 more
doaj +1 more source
ABSTRACT Purpose Next‐generation sequencing (NGS) has emerged as a promising approach to improve diagnostic accuracy, but its feasibility in low‐ and middle‐income countries remains unknown. This study characterized the diagnostic landscape and assessed organizational readiness for NGS implementation at two childhood cancer treatment centers in Accra ...
Melissa Carvalho +6 more
wiley +1 more source

