Results 31 to 40 of about 3,939 (151)

Yin Yang 1 Specifically Supports the Development of Olig2 Positive Cerebellar Astrocytes. [PDF]

Glia
Cerebellar Olig2 positive astrocytes are most abundant in the cerebellar nuclei. Cerebellar astrocytes expressing Olig2 have unique gene expression profiles. Yin Yang 1 specifically supports the development of astrocytes expressing Olig2. Deletion of YY1 during development increases numbers of astrocytes expressing Olig2 but hinders their ...
Zarei-Kheirabadi M, Tyc KM, Dain L, Kheirabadi MA, Hanco J, Mockenhaupt K, Munir S, McQuiston A, Singh SK, Kordula T.   +9 more
europepmc   +2 more sources

Biochemical and physiological improvement in a mouse model of Smith–Lemli–Opitz syndrome (SLOS) following gene transfer with AAV vectors

Molecular Genetics and Metabolism Reports, 2014
Smith–Lemli–Opitz syndrome (SLOS) is an inborn error of cholesterol synthesis resulting from a defect in 7-dehydrocholesterol reductase (DHCR7), the enzyme that produces cholesterol from its immediate precursor 7-dehydrocholesterol.
Lee Ying, Xavier Matabosch, Montserrat Serra, Berna Watson, Cedric Shackleton, Gordon Watson   +5 more
doaj   +1 more source

More challenges ahead of DHCR7's role in Hh signaling [PDF]

Development, 2006
Smith-Lemli-Opitz syndrome (SLOS) is caused by defects in 7-dehydrocholesterol reductase (DHCR7), a key enzyme in the final step of cholesterol biosynthesis. Cholesterol has been suggested to play roles in Hedgehog (Hh) signaling by either the direct cholesterification of Hh ligands or by ...
Tetsuya Koide, Tadayoshi Hayata, Ken W. Y. Cho   +2 more
openaire   +1 more source

Smith-Lemli-Opitz syndrome: Bosnian and Herzegovinian experience

Balkan Journal of Medical Genetics, 2021
The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an overview of the modality of diagnosis, and the treatment of the patient. Exome analysis showed two variants in exon 6 of the 7-dehydrocholesterol reductase (
Begic N, Begic Z, Begic E
doaj   +1 more source

Dhcr7 Regulates Palatal Shelf Fusion through Regulation of Shh and Bmp2 Expression [PDF]

BioMed Research International, 2016
The aim of this study was to investigate the effect of the 7-dehydrocholesterol reductase (Dhcr7) gene and identify signaling pathways involved in regulation of embryonic palatogenesis. The expression ofDhcr7and its protein product were examined during murine normal embryonic palatogenesis via a reverse transcription polymerase chain reaction (RT-PCR ...
Xiao, Wen-lin, Zhang, Dai-zun, Xu, Hong, Zhuang, Cui-zhu   +3 more
openaire   +2 more sources

The use of the Dhcr7 knockout mouse to accurately determine the origin of fetal sterols [PDF]

Journal of Lipid Research, 2006
Mice with a targeted mutation of 3beta-hydroxysterol Delta(7)-reductase (Dhcr7) that cannot convert 7-dehydrocholesterol to cholesterol were used to identify the origin of fetal sterols. Because their heterozygous mothers synthesize cholesterol normally, virtually all sterols found in a Dhcr7 knockout fetus having a Delta(7) or a Delta(8) double bond ...
G.S. Tint, Hongwei Yu, Quan Shang, Guorong Xu, Shailendra B. Patel   +4 more
openaire   +3 more sources

Engineering Yarrowia lipolytica for Campesterol Overproduction. [PDF]

PLoS ONE, 2016
Campesterol is an important precursor for many sterol drugs, e.g. progesterone and hydrocortisone. In order to produce campesterol in Yarrowia lipolytica, C-22 desaturase encoding gene ERG5 was disrupted and the heterologous 7-dehydrocholesterol ...
Hao-Xing Du, Wen-Hai Xiao, Ying Wang, Xiao Zhou, Yu Zhang, Duo Liu, Ying-Jin Yuan   +6 more
doaj   +1 more source

Identification of genes involved in chicken follicle selection by ONT sequencing on granulosa cells

Frontiers in Genetics, 2023
In chickens, follicle selection is an important process affecting laying traits, which is characterized by the differentiation of granulosa cells and the synthesis of progesterone by granulosa cells from hierarchical follicles.
Dandan Li, Conghao Zhong, Yi Sun, Li Kang, Yunliang Jiang   +4 more
doaj   +1 more source

Targeting the HSPA8‐CMA‐ATP6V1A Axis Triggers Lysosomal Hyperacidification and Catastrophic Vacuolation in Prostate Cancer

Advanced Science, EarlyView.
Our experimental evidence supports a model in which ALO targets the HSPA8‐CMA‐ATP6V1A axis to induce lysosomal hyperacidification and initiate osmotic and lipidomic stress. These changes are associated with LMP and loss of lysosomal integrity in prostate cancer cells.
Bingzheng An, Ze Gao, Shuo Chen, Liwei Meng, Chen Zhang, Kefan Song, Haochen Cui, Lei Yan, Zhiqing Fang   +8 more
wiley   +1 more source

Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada [PDF]

Journal of Medical Genetics, 2002
Smith-Lemli-Opitz syndrome (SLOS, OMIM 270400) is an autosomal recessive disorder of cholesterol biosynthesis resulting from deficient 3β-hydroxysterol Δ7-reductase (DHCR7) activity.1,2 Patients with SLOS have a characteristic facial phenotype, various degrees of cleft palate and of syndactyly of toes 2 and 3, failure to thrive, behavioural problems ...
J S, Waye, L M, Nakamura, B, Eng, L, Hunnisett, D, Chitayat, T, Costa, M J M, Nowaczyk   +6 more
openaire   +2 more sources