Results 141 to 150 of about 3,939 (151)

Identification of nine novelDHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)

Human Mutation, 2005
Forbes D Porter, Christopher Wassif, John Waye   +2 more
exaly  

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome

Clinical Genetics, 2004
Malgorzata Krajewska-Walasek, Aleksandra Jezela-Stanek, Elżbieta Ciara   +2 more
exaly  

Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome

Journal of Steroid Biochemistry and Molecular Biology, 2010
Xavier Matabosch, Montserrat Serra, Gordon Watson   +2 more
exaly  

Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer

Journal of Steroid Biochemistry and Molecular Biology, 2010
Xavier Matabosch, Forbes D Porter, Christopher Wassif   +2 more
exaly  

Prevalence of Smith–Lemli–Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts

Genes
Jan Diblík, Milan Macek, István Balogh   +2 more
exaly  

Regulatory Mechanism of DHCR7 Gene Expression by Estrogen in Chicken Granulosa Cells of Pre-Hierarchical Follicles

Biomolecules
Yunliang Jiang, Li Kang, Qingqing Wei
exaly  

DHCR7 drives AML development through the IL6 / JAK2 / STAT3 signalling pathway

British Journal of Haematology
Zhaoxing Wu, Wei-Wei Zheng, Xu Dai
exaly  

DHCR7 mutations causing the Smith—Lemli—Opitz syndrome

Future Lipidology, 2008
exaly  

The mutation spectrum of DHCR7 gene and two novel mutations

2017
DURMAZ, ASUDE, AYKUT, AYÇA, ATİK, TAHİR, ONAY, HÜSEYİN, AKGÜN, BİLÇAĞ, ÖZKINAY, FERİŞTAH FERDA, MIHÇI, ERCAN, ÇOĞULU, MUHSİN ÖZGÜR, GÖKMEN, ZEYNEL, EROL, İLKNUR, ŞAHİN, TÜLİN, ECE SOLMAZ, ASLI, NUR, BANU, ELMAS, MUHSİN, IŞIK, ESRA, DÜNDAR, MUNİS, KURTBAY, YAŞAR BEKİR   +16 more
openaire   +1 more source

DHCR7 Deficiency Promotes 7β-hydroxycholesterol Accumulation and Endothelial Apoptosis in Pulmonary Hypertension

D27. LATE BREAKING WAVE! LATE BREAKING ABSTRACTS IN PULMONARY VASCULAR DISEASE
R. Rao, H.-J.J. Kim, S. Jiang, Y.-Y. Tai, B. Wang, Y. Tang, W. El Khoury, A. Kirillova, Y. Al Aaraj, A.M. Watson, A.X. Sharma, J. McDonald, H. Wu, K. Francis, S. Ramachandra Rao, S.J. Fliesler, T. Bertero, W. Sun, L.D. Harvey, S.Y. Chan   +19 more
openaire   +1 more source