نتایج جستجو برای: ivs4

تعداد نتایج: 128  

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2003
Eleanor A Mathews Esperanza García Celia M Santi Gregory P Mullen Colin Thacker Donald G Moerman Terrance P Snutch

The Caenorhabditis elegans unc-2 gene encodes a voltage-gated calcium channel alpha1 subunit structurally related to mammalian dihydropyridine-insensitive high-threshold channels. In the present paper we describe the characterization of seven alleles of unc-2. Using an unc-2 promoter-tagged green fluorescent protein construct, we show that unc-2 is primarily expressed in motor neurons, several ...

2015
Nana Li Haitao Jia Zhen Liu Jing Tao Song Chen Xiaohong Li Ying Deng Xi Jin Jiaping Song Liangtao Zhang Yu Liang Wei Wang Jun Zhu

Phenylketonuria (PKU) is an inherited autosomal recessive disorder of phenylalanine metabolism, mainly caused by a deficiency of phenylalanine hydroxylase (PAH). The incidence of various PAH mutations differs among race and ethnicity. Here we report a spectrum of PAH mutations complied from 796 PKU patients from mainland China. The all 13 exons and adjacent intronic regions of the PAH gene were...

ژورنال: بیماری های پستان 2019

Introduction: The PTEN gene, also known as MMAC1 or TEP1, is a tumor suppressor gene. One of the important polymorphisms of this gene is the rs10490920 SNP. The purpose of this study was to determine the PTEN gene expression and its relation to changes in rs10490920 polymorphism in breast cancer. Methods: In this study, 40 breast cancer patients and 10 healthy controls were considered. The expr...

Journal: :Endocrine journal 2011
Seong-Su Moon Young-Sil Lee Jung-Guk Kim Su-Won Kim Ji-Yun Jeong Eon-Ju Jeon Hyun-Ae Seo Soo Heon Kwak Kyong Soo Park In-Kyu Lee

11β-Hydroxysteroid dehydrogenase type 1 (HSD11B1), which converts inactive glucocorticoid to active glucocorticoid, plays a critical role in the pathogenesis of visceral obesity, metabolic syndrome, and diabetes. Hexose-6-phosphate dehydrogenase (H6PD) supplies a crucial cofactor, reduced nicotinamide adenine dinucleotide phosphate (NADPH), which allows HSD11B1 to maintain reductase activity. ...

2016
Monica Bocchia Sara Galimberti Lara Aprile Anna Sicuranza Antonella Gozzini Francesca Santilli Elisabetta Abruzzese Claudia Baratè Barbara Scappini Giulia Fontanelli Monika Malgorzata Trawinska Marzia Defina Alessandro Gozzetti Alberto Bosi Mario Petrini Luca Puccetti

Several reports described an increased risk of cardiovascular (CV) events, mainly atherothrombotic, in Chronic Myeloid Leukemia (CML) patients receiving nilotinib. However, the underlying mechanism remains elusive. The objective of the current cross-sectional retrospective study is to address a potential correlation between Tyrosine Kinase Inhibitors (TKIs) treatment and CV events. One hundred ...

Journal: :Society of General Physiologists series 1995
F Lehmann-Horn I Sipos K Jurkat-Rott R Heine H Brinkmeier B Fontaine L Kovacs W Melzer

In a genome-wide search, linkage of hypokalemic periodic paralysis (HypoPP), a muscle disease with autosomal dominant inheritance, to chromosome 1q31-32 and cosegregation with the gene encoding the L-type calcium channel/DHP receptor alpha 1 subunit has been reported (Fontaine et al., 1994). Here we show the extended haplotypes of a large HypoPP family who made the detection of the gene product...

2007
Robert J. Desnick

Background: Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the a-galactosidase A (a-Gal A) gene located at Xq22.1. To determine the nature and frequency of the molecular lesions causing the classical and milder variant Fabry phenotypes and for precise carrier detection, the a-Gal A lesions in 42 unrelated Fabry hemizygotes were determined. Mat...

2012
Rajneesh TRIPATHI Satyendra TEWARI Sarita AGARWAL

The human lectin-like oxidized low-density lipoprotein receptor 1 (OLR1/LOX-1) is expressed on the endothelial cells, macrophages, and vascular smooth muscle cells. It internalizes Ox-LDL leading to multiple effects on endothelial dysfunctions and atherosclerosis (Knowles et al., 2008). The expression of OLR1 gene has been observed in vivo (placenta, lungs, brain, and liver) and in vitro (aorti...

Journal: :Cancer detection and prevention 2008
Patricia V Basta Jeannette T Bensen Chiu-Kit Tse Charles M Perou Patrick F Sullivan Andrew F Olshan

BACKGROUND The Pentose Phosphate Pathway (PPP) is involved in the body's protection against oxidative stress and resistance/susceptibility to apoptosis and thus has been implicated in tumor development and progression. Here we present data examining the association of genetic variation in one of the key enzymes of the PPP, Transaldolase 1 (TALDO1) with squamous cell carcinoma of the head and ne...

2017
Jin-Ho Choi Beom Hee Lee Sun Hee Heo Gu-Hwan Kim Yoo-Mi Kim Dae-Seong Kim Jung Min Ko Young Bae Sohn Yong Hee Hong Dong-Hwan Lee Hoon Kook Han Hyuk Lim Kyung Hee Kim Woo-Shik Kim Geu-Ru Hong Su-Hyun Kim Sang Hyun Park Chan-Duck Kim So Mi Kim Jeong-Sook Seo Han-Wook Yoo

Fabry disease is a rare X-linked lysosomal storage disorder caused by an α-galactosidase A deficiency. The progressive accumulation of globotriaosylceramide (GL-3) results in life-threatening complications, including renal, cardiac, and cerebrovascular diseases. This study investigated the phenotypic and molecular spectra of GLA mutations in Korean patients with Fabry disease using a nationwide...

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