نتایج جستجو برای: larsson syndrome
تعداد نتایج: 622429 فیلتر نتایج به سال:
CHEMISTRY, BIOPHYSICS AND COMPUTATIONAL BIOLOGY Correction for “Effect of cholesterol on the molecular structure and transitions in a clinical-grade lung surfactant extract,” by Jenny Marie Andersson, Carl Gray, Marcus Larsson, Tiago Mendes Ferreira, and Emma Sparr, which appeared in issue 18, May 2, 2017, of Proc Natl Acad Sci USA (114:E3592–E3601; first published April 17, 2017; 10.1073/pnas....
A Hom-algebra structure is a multiplication on a vector space where the structure is twisted by a homomorphism. The structure of Hom-Lie algebra was introduced by Hartwig, Larsson and Silvestrov in [4] and extended by Larsson and Silvestrov to quasi-hom Lie and quasi-Lie algebras in [5, 6]. In this paper we introduce and study Hom-associative, Hom-Leibniz, and Hom-Lie admissible algebraic struc...
THE word ichthyosis is derived from the Greek word Ichthys meaning a fish. Patients with ichthyosis exhibit prominent scales occurring more or less diffusely all over the body. Usually the scales are large and centrally adherent with loose edges. Ichthyosis is a disorder of keratinization. Ichthyosis forms a group of genodermatoses transmitted by autosomal dominant or, as recently shown by Well...
Demonstration of post-growth wavelength control of VCSELs using high-contrast gratings E. Haglund, J.S. Gustavsson, J. Bengtsson, Ã.... Haglund, A. Larsson, D. Fattal, W. Sorin, M. Tan
Je Yeon Kim, M.D., Shin-Hye Kim, M.D., Mi-Jung Park, M.D., Soung Hee Kim, M.D., Woo Ho Cho, M.D., Jin Choi, M.D., Chang-Seok Ki, M.D., and Su Jeong You, M.D. Department of Pediatrics, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul; Department of Radiology, Inje University Sanggye Paik Hospital, Inje University College of Medicine, Seoul; Department of Ophthalm...
Fig. S1. ALDH3A2 mutations in the patient with Sjögren-Larsson syndrome and sequence alignments around the missense mutation. (A) Direct sequencing reveals a heterozygous c.1157A>G (p.N386S) transition in exon 8 of the ALDH3A2 gene in the patients and their mother, but not in their father or normal control samples. (B) A heterozygous c.1291_1292delAA (p.Lys431Glufs*5) mutation is found in exon ...
Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder characterized by ichthyosis, mental retardation, spasticity, and deficient activity of fatty aldehyde dehydrogenase (FALDH). FALDH is an enzyme component of fatty alcohol:NAD oxidoreductase (FAO), which is necessary for fatty alcohol metabolism. To better understand the biochemical basis for the cutaneous symptoms in this di...
Sphingosine 1-phosphate (S1P) functions not only as a bioactive lipid molecule, but also as an important intermediate of the sole sphingolipid-to-glycerolipid metabolic pathway. However, the precise reactions and the enzymes involved in this pathway remain unresolved. We report here that yeast HFD1 and the Sjögren-Larsson syndrome (SLS)-causative mammalian gene ALDH3A2 are responsible for conve...
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