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Pharmacology Biochemistry and Behavior, 2013
Smith-Lemli-Opitz syndrome (SLOS) is a developmental disorder resulting from mutations to the Dhcr7 gene, which is required for cholesterol synthesis. Patients with SLOS typically exhibit a number of severe behavioral deficits and many are diagnosed with autistic spectrum disorder. Although the molecular pathophysiology underlying behavioral changes in
Z, Korade, O M, Folkes, F E, Harrison
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Smith-Lemli-Opitz syndrome (SLOS) is a developmental disorder resulting from mutations to the Dhcr7 gene, which is required for cholesterol synthesis. Patients with SLOS typically exhibit a number of severe behavioral deficits and many are diagnosed with autistic spectrum disorder. Although the molecular pathophysiology underlying behavioral changes in
Z, Korade, O M, Folkes, F E, Harrison
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The mutation spectrum of DHCR7 gene and two novel mutations
2018[Abtract Not Available]
Isik, E. +6 more
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DHCR7 mutations causing the Smith—Lemli—Opitz syndrome
Future Lipidology, 2008The Smith–Lemli–Opitz Syndrome (SLOS) is a metabolic malformation and mental retardation syndrome that is casued by a defect in cholesterol biosynthesis. The resulting loss of cholesterol leads to a spectrum from mild to very severe phenotype. The DHCR7 gene encodes Δ7 sterol reductase, the enzyme catalyzing the reduction of 7-dehydrocholesterol to ...
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Dhcr7 Gene Mutation - Bosnian And Herzegovinian Experience
Atherosclerosis, 2019N. Begic, Z. Begic, E. Begic
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การติดเชื้อไวรัสตับอักเสบซีแบบเรื้อรังเป็นสาเหตุหนึ่งของการเกิดพังผืดในตับและตับแข็งซึ่งทำให้เกิดโรคมะเร็งตับ ปัจจุบันเชื่อว่าความหลากหลายทางพันธุกรรม (single nucleotide polymorphisms, SNPs) ของยีนต่างๆมีผลต่อการดำเนินของโรคตับอักเสบซีแบบเรื้อรัง การศึกษามีจุดประสงค์เพื่อศึกษาความสัมพันธ์ของ SNPs PNPLA3 (rs738409), COX-2 (rs689465) และ DHCR7 ...
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DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients
American Journal of Medical Genetics Part A, 2005F B, Scalco +4 more
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Mutations in the humanDHCR7gene
Human Mutation, 2001Martina Witsch-Baumgartner +2 more
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DHCR7 and Smith-Lemli-Opitz syndrome.
Clinical and investigative medicine. Medecine clinique et experimentale, 2002M J, Nowaczyk, L M, Nakamura, J S, Waye
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European Journal of Obstetrics, Gynecology and Reproductive Biology, 2020
Hanna Moczulska +2 more
exaly
Hanna Moczulska +2 more
exaly