Results 121 to 130 of about 3,939 (151)

Characterization of large deletions in the DHCR7 gene

Clinical Genetics, 2014
Pathogenic variants in the DHCR7 gene cause Smith–Lemli–Opitz syndrome (SLOS), a defect of cholesterol biosynthesis resulting in an autosomal recessive congenital metabolic malformation disorder. In approximately 4% of patients, the second mutation remains unidentified.
B, Lanthaler, K, Hinderhofer, B, Maas, D, Haas, H, Sawyer, S, Burton-Jones, K, Carter, M, Suri, M, Witsch-Baumgartner   +8 more
openaire   +2 more sources

DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome

American Journal of Medical Genetics, 2001
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 7-dehydrocholesterol reductase gene (DHCR7). We report on three cousins with SLOS, all of whom were found to be compound heterozygotes for the common splice site mutation IVS8-1G-->C and the missense mutation T289I.
M J, Nowaczyk, T, Heshka, B, Eng, A J, Feigenbaum, J S, Waye   +4 more
openaire   +2 more sources

Zika virus non-structural protein 4B interacts with DHCR7 to facilitate viral infection

Virologica Sinica, 2023
Zika virus (ZIKV) evolves non-structural proteins to evade immune response and ensure efficient replication in the host cells. Cholesterol metabolic enzyme 7-dehydrocholesterol reductase (DHCR7) was recently reported to impact innate immune responses in ZIKV infection.
Chen, Weijie, Li, Yukun, Yu, Xiuling, Wang, Zhenwei, Wang, Wenbiao, Rao, Menglan, Li, Yongkui, Luo, Zhen, Zhang, Qiwei, Liu, Jinbiao, Wu, Jianguo   +10 more
exaly   +3 more sources

Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome [PDF]

International Journal of Molecular Sciences, 2018
Smith-Lemli-Opitz syndrome (SLOS) is a cholesterol synthesis disorder characterized by physical, mental, and behavioral symptoms. It is caused by mutations in 7-dehydroxycholesterolreductase gene (DHCR7) encoding DHCR7 protein, which is the rate-limiting enzyme in the cholesterol synthesis pathway. Here we demonstrate that pathogenic mutations in DHCR7
Emil Alexov, Yunhui Peng, Peng Yunhui
exaly   +3 more sources

Phosphorylation regulates activity of 7-dehydrocholesterol reductase (DHCR7), a terminal enzyme of cholesterol synthesis

Journal of Steroid Biochemistry and Molecular Biology, 2017
Cholesterol is essential for survival, but too much or too little can cause disease. Thus, cholesterol levels must be kept within close margins. 7-dehydrocholesterol reductase (DHCR7) is a terminal enzyme of cholesterol synthesis, and is essential for embryonic development.
Anika Prabhu, Andrew Brown, Laura J Sharpe   +2 more
exaly   +3 more sources

SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations

European Journal of Medical Genetics, 2006
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations in the DHCR7 gene. Previous studies estimated the prevalence of SLOS between 1 in 10,000 to 1 in 70,358 based on case frequency surveys. Although panethnic, SLOS appears to be most frequent in Central European populations (Czech Republic
E, Ciara, E, Popowska, D, Piekutowska-Abramczuk, D, Jurkiewicz, M, Borucka-Mankiewicz, Paweł, Kowalski, B, Goryluk-Kozakiewicz, M J M, Nowaczyk, M, Krajewska-Walasek   +8 more
openaire   +2 more sources

Identification of a Novel DHCR7 Mutation in a Korean Patient With Smith-Lemli-Opitz Syndrome

Journal of Child Neurology, 2007
Smith-Lemli-Opitz syndrome is a unique malformation syndrome characterized by a defect in cholesterol biosynthesis, which is very rare among populations in Middle and East Asia. The authors identified compound heterozygous mutations ([p.Arg352Trp] + [p.Lys376ArgfsX37]) in a Korean girl with clinical and laboratory features typical of Smith-Lemli-Opitz ...
, Jong Hee Chae, , Ki Joong Kim, , Yong Seung Hwang, Chang-Seok, Ki, Jong-Won, Kim   +4 more
openaire   +2 more sources

Founder effect for the T93MDHCR7mutation in Smith‐Lemli‐Opitz syndrome

American Journal of Medical Genetics Part A, 2003
AbstractSmith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive MCA‐MR disorder caused by mutations within the 7‐dehydrocholesterol reductase gene,DHCR7. The diagnosis is based on the biochemical findings of elevated plasma 7‐dehydrocholesterol (7DHC) levels.
Małgorzata J M, Nowaczyk, Diana, Martin-Garcia, Angel, Aquino-Perna, Miguel, Rodriguez-Vazquez, Donna, McCaughey, Barry, Eng, Lisa M, Nakamura, John S, Waye   +7 more
openaire   +2 more sources

A Novel Mutation of the DHCR7 Gene in a Sicilian Compound Heterozygote with Smith-Lemli-Opitz Syndrome

Molecular Diagnosis, 2005
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis, resulting from deficient 7-dehydrocholesterol reductase (3beta-hydroxysterol Delta7-reductase) activity, the enzyme responsible for conversion of 7-dehydrocholesterol to cholesterol.
ROMANO F, FIORE B, PEZZINO FM, LONGOMBARDO MT, CEFALU', Angelo Baldassare, NOTO, Davide, PUGLISI A, BROGNA A, MATTINA T, AVERNA, Maurizio, TRAVALI S.   +10 more
openaire   +3 more sources

Prenatal diagnosis of Smith‐Lemli‐Opitz syndrome (SLOS) by DHCR7 mutation analysis

Prenatal Diagnosis, 2007
AbstractObjectivesWe review our experience using mutation analysis of the DHCR7 gene for prenatal diagnosis of Smith‐Lemli‐Opitz syndrome (SLOS), an autosomal recessive disorder of endogenous cholesterol biosynthesis caused by deficiency of 7‐dehydrocholesterol reductase (DHCR7).Methods and ResultsPrenatal diagnosis of SLOS was conducted for 21 ...
John S, Waye, Barry, Eng, Małgorzata J M, Nowaczyk   +2 more
openaire   +2 more sources