Results 301 to 310 of about 2,088,899 (353)

Downregulation of sST2, a decoy receptor for interleukin‐33, enhances subcutaneous tumor growth in murine pancreatic cancer cells

open access: yesFEBS Open Bio, EarlyView.
Subcutaneous implantation of murine Panc02 pancreatic cancer cells depleted of sST2, a soluble decoy receptor for the proinflammatory interleukin‐33 (IL‐33), leads to a decreased number of GLUT4‐positive cancer‐associated adipocytes, reduced levels of the anti‐inflammatory molecule adiponectin, increased phosphorylation of IκBα, elevated Cxcl3 ...
Miho Akimoto   +5 more
wiley   +1 more source

Cis‐unsaturated sphingolipids support growth of sphingoid base‐deficient yeast but impair plasma membrane integrity

open access: yesFEBS Open Bio, EarlyView.
Sphingoid base structures, the sphingolipid backbones, vary among species. We established yeast cells in which the native sphingoid base was replaced with plant‐type bases containing cis or trans double bonds. This is, to our knowledge, the first eukaryotic model mostly composed of sphingolipids containing cis‐unsaturated sphingoid base, providing a ...
Takashi Higuchi   +5 more
wiley   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao   +34 more
wiley   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra   +17 more
wiley   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero   +15 more
wiley   +1 more source

Primary HSV-2 Infection in an Immunocompromised Patient Reveals High Diversity of Drug-Resistance Mutations in the Viral DNA Polymerase. [PDF]

open access: yesViruses
Schalkwijk HH   +9 more
europepmc   +1 more source

Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes. [PDF]

open access: yesPLoS One
Tareen JK   +13 more
europepmc   +1 more source

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