Results 61 to 70 of about 1,281 (185)
Expanded carrier screening: A current perspective [PDF]
, 2018 Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb +12 more
core +1 more source
Structural characterization of the Sel1‐like repeat protein LceB from Legionella pneumophila
Protein Science, Volume 33, Issue 3, March 2024.Abstract Legionella are freshwater Gram‐negative bacteria that in their normal environment infect protozoa. However, this adaptation also allows Legionella to infect human alveolar macrophages and cause pneumonia. Central to Legionella pathogenesis are more than 330 secreted effectors, of which there are nine core effectors that are conserved in all ...
Tiffany V. Penner +6 more
wiley +1 more source
Journal of Lipid Research, 2019 Phosphoinositides (PIs) are recognized as major signaling molecules in many different functions of eukaryotic cells. PIs can be dephosphorylated by multiple phosphatase activities at the 5-, 4-, and 3- positions.
Ana Raquel Ramos +2 more
doaj +1 more source
Molecular Microbiology, Volume 121, Issue 3, Page 497-512, March 2024.The 3D structure of PlaA shows a typical α/β‐hydrolase fold and reveals that a disulfide loop forms a lid structure covering the catalytic triad S30/D278/H282. After disulfide loop processing by ProA, access of lipid substrates to the catalytic site is facilitated and thus leads to an increase of LPLA activity.
Miriam Hiller +6 more
wiley +1 more source
Multiple subcutaneous folds in oculocerebrorenal syndrome of Lowe
Ceylon Medical Journal, 2013 A 3-months old infant born to non-consanguineous parents was evaluated for hypotonia and developmental delay. He had a cataract in left eye, congenital glaucoma and megalocornea in right eye with no other dysmorphism. Anterior fontanelle was widely open. He was hypotonic with diminished tendon reflexes.
J, Wanigasinghe +3 more
openaire +3 more sources
Primary cilia signaling mediates intraocular pressure sensation [PDF]
, 2014 Lowe syndrome is a rare X-linked congenital disease that presents with congenital cataracts and glaucoma, as well as renal and cerebral dysfunction. OCRL, an inositol polyphosphate 5-phosphatase, is mutated in Lowe syndrome.
Cantor, Louis B. +13 more
core +2 more sources
Virchow-Robin spaces : an anatomic variant or a pathologic sign? [PDF]
, 2009 Virchow-Robin spaces surround blood vessels. Their walls are formed by prolongations of the pia mater and they have no communication with the subarachnoid space. VRS are often seen as well-delineated foci of cerebrospinal fluid signal on MR images.
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Canalopatias em endocrinologia: achados genéticos recentes e fisiopatologia [PDF]
, 2010 Ion channels serve diverse cellular functions, mainly in cell signal transduction. In endocrine cells, these channels play a major role in hormonal secretion, Ca2+-mediated cell signaling, transepithelial transport, cell motility and growth, volume ...
Chiamolera, Maria Izabel +7 more
core +2 more sources
Receptor activator of nuclear factor-kappa B ligand (RANKL) directly modulates the gene expression profile of RANK-positive Saos-2 human osteosarcoma cells [PDF]
, 2007 Receptor activator of nuclear factor κB (RANK)/RANK ligand (RANKL)/osteoprotegerin (OPG) are the key regulators of bone metabolism. Recent findings demonstrated a crucial role of RANK in several bone-associated tumors.
Berreur, M. +7 more
core +3 more sources
A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome
The Turkish Journal of Pediatrics, 2013 Oculocerebrorenal syndrome, also known as Lowe syndrome, is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome.
Ali Kanık +5 more
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