Results 91 to 100 of about 4,480 (201)

Cholesterol in coronary heart disease and psychiatric disorders: same or opposite effects on morbidity risk? [PDF]

, 2009
The goal of this article is to review the studies that have linked low cholesterol levels with psychiatric symptoms or behavioral disorders in order to clarify which cholesterol fractions may influence psychological well being and mental health.
Troisi, A
core   +1 more source

A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome

Journal of Lipid Research, 2006
The Smith-Lemli-Opitz syndrome (SLOS) is an often lethal birth defect resulting from mutations in the gene responsible for the synthesis of the enzyme 3β-hydroxy-steroid-Δ7-reductase, which catalyzes the reduction of the double bond at carbon 7 on 7 ...
Thomas N. Tulenko, Kathy Boeze-Battaglia, R. Preston Mason, G. Stephen Tint, Robert D. Steiner, William E. Connor, Edward F. Labelle   +6 more
doaj   +1 more source

Charge-tagging liquid chromatography–mass spectrometry methodology targeting oxysterol diastereoisomers [PDF]

, 2017
The introduction of a hydroxy group to the cholesterol skeleton introduces not only the possibility for positional isomers but also diastereoisomers, where two or more isomers have different configurations at one or more of the stereocentres but are not ...
Abdel-Khalik, Alison Dickson, Alvelius, Crick, Crick, DeBarber, Dzeletovic, Eylan Yutuc, Furster, Griffiths, Griffiths, Griffiths, Hult, Jonas Abdel-Khalik, Larsson, Lütjohann, McDonald, Meljon, Mitic, Murphy, Natowicz, Peter J. Crick, Quehenberger, Russell, Schroepfer, Shinkyo, Theofilopoulos, Thomas Hearn, Vilarinho, William J. Griffiths, Yuqin Wang   +30 more
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Total cholesterol, low is not always the best: Part 1 - Cholesterol biosynthesis defects [PDF]

, 2018
O colesterol é um componente importante das membranas celulares e da mielina, desempenhando também um papel essencial na embriogénese e desenvolvimento.
Alves, Ana Catarina, Bourbon, Mafalda, Cardoso, Maria Luís   +2 more
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Smith-Lemli-Opitz Syndrome [PDF]

Proceedings of the Royal Society of Medicine, 1969
L, Sinclair, M H, Winterborn, J, Brown
openaire   +2 more sources

The implicitome: A resource for rationalizing gene-disease associations [PDF]

, 2016
High-throughput experimental methods such as medical sequencing and genome-wide association studies (GWAS) identify increasingly large numbers of potential relations between genetic variants and diseases. Both biological complexity (millions of potential
Bruskiewich, R. (Richard), Dunnen, J.T. (Johan) den, Emmelien, A. (Aten), Good, B.M. (Benjamin M.), Haagen, H.H.H.B.M. (Herman) van, Hettne, K.M. (Kristina), Hoen, P.A.C. (Peter) 't, Kaliyaperumal, R. (Rajaram), Kors, J.A. (Jan), Laros, J.F.J. (Jeroen F.), Li, T.S. (Tong Shu), Mina, E. (Eleni), Mons, B. (Barend), Roos, M. (Marco), Schuemie, M.J. (Martijn), Schultes, E. (Erik), Su, A.I. (Andrew I.), Tatum, Z. (Zuotian), Thompson, M. (Mark), Van Der Horst, E. (Eelke), Van Mulligen, E.M. (Erik M.), Van Ommen, G.-J.B. (Gert-Jan B.)   +21 more
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Prenatal diagnosis of holoprosencephaly associated with Smith–Lemli–Opitz syndrome (SLOS) in a 46,XX fetus

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith–Lemli–Opitz syndrome (SLOS), after exclusion of chromosomal ...
André Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa   +3 more
doaj   +1 more source

Clinical and Genetic Examination of Limb Developmental Defects [PDF]

, 2010
8
Tészás Alexandra
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Genetics of autistic disorders: review and clinical implications [PDF]

, 2009
Twin and family studies in autistic disorders (AD) have elucidated a high heritability of AD. In this literature review, we will present an overview on molecular genetic studies in AD and highlight the most recent findings of an increased rate of copy ...
Freitag, Christine M., Staal, Wouter, Klauck, Sabine M., Duketis, Eftichia, Waltes, Regina   +4 more
core   +2 more sources

Oxysterols and Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Implications for an Improved Therapeutic Intervention

Molecules, 2018
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive human disease caused by mutations in the gene encoding 7-dehydrocholesterol (7DHC) reductase (DHCR7), resulting in abnormal accumulation of 7DHC and reduced levels of cholesterol in bodily ...
Steven J. Fliesler, Libin Xu
doaj   +1 more source