1.Diagnosis of X-Linked creatine transporter deficiency in a patient from Northeast China
Chun-Hui Hu ; Yu-Ying Fan ; Long-Fei Wang ; Tao Yu ; Xiao-Ming Wang ; Hua Wang
Neurology Asia 2015;20(2):197-201
Background: Creatine transporter (CRTR) deficiency is the most common creatine deficiency syndrome,
of which the final diagnosis relies on mutation in the X-linked CRTR gene. To date, more than 90
mutations in the SLC6A8 gene have been reported. This paper discusses a novel mutation detected via
the thorough sequencing of all the X-chromosome-specific exons investigated in a four and a half year
old boy with an intellectual disability, speech and language delay and motor disturbance. Methods:
A brain magnetic resonance imaging (MRI) and a proton magnetic resonance spectroscopy (MRS)
were carried out, the creatine and creatinine concentrations in the urine were checked and all exons
were sequenced. Results: A detailed clinical investigation revealed a reduction in the cerebral creatine
levels in the brain by the MRS, elevated creatine and creatinine concentrations in the urine and signal
abnormalities in the left frontal cortex of the brain by the MRI. A novel change was identified in the
heterozygosity of the exon 10: c.1395-c.1401 deletion.
Conclusion: The use of a combination of powerful new technologies, such as thorough exome-nextgeneration
sequencing and a brain MRS, should be considered, in order to determine any neurometabolic
diseases, especially when the signal abnormalities in the brain MRI cannot be explained by any other
factors. This mutation results most likely in a dysfunction of the creatine transport and synthesis,
hence causing central nervous system symptoms.
Carrier Proteins
2.Serum B2-microglobulin and Retinol Binding Protein and Urine B2-microglobulin and a1-microglobulin in Early Neonatal Period.
Jong Duck KIM ; Jae Kak CHOI ; Yong Hwae MOON
Journal of the Korean Pediatric Society 1995;38(9):1176-1184
No abstract available.
Carrier Proteins*
;
Vitamin A*
3.The Evolution of Insulin
Journal of Korean Society of Endocrinology 1994;9(2):73-81
No abstract available.
Carrier Proteins
;
Humans
;
Insulin
4.Join the club: ORP8 is a lipophagy receptor.
Protein & Cell 2023;14(9):632-634
5.Analysis of Lipopolysaccharide Responsive Binding Proteins to Mouse Rantes Promoter in Macrophages.
Korean Journal of Immunology 2000;22(3):173-180
No abstract available.
Animals
;
Carrier Proteins*
;
Chemokine CCL5*
;
Macrophages*
;
Mice*
6.Generate and purify antibody against human Heparansulphate interacting protein (hHIp) in rabbit
Anh Ngoc Le ; Khoa Dang Pham ; Chinh Thi Tran ; Thanh Van Ta
Journal of Medical Research 2007;47(2):1-5
Background: Human Heparansulphate interacting protein (hHip) has been shown to participate in biological processes of cells. Several studies indicated that hHip transcript is up regulated in several of cancer tissues including those of thyroid, colon, breast and prostate. Antibody against hHIP is necessary for methods to evaluate protein level of HIP in cancer tissues. Objectives:The aims of study was to induce anti hHIP antibody in rabbit and purify and conserve purified anti hHIP antibody. Subjects and method: The study included 9 adult and healthy rabbits with the weight 2 - 2.5kg. Immunization hHIP peptide-KLH in rabbit. Purify anti hHIP antibody using affinity chromatography. Results: The results shown synthesize hHIP peptide and conjugate it with carrier protein. Sensitive rabbit better meet with hHIP-KLH antibody. The Ig concentration obtained in sensitive rabbit was rather high and equal. Immunization hHIP-KLH successfully in rabbit. Obtainment valuable amount of anti hHIP antibody. Conclusion: Successfully induce and purify anti hHIP antibody from rabbit. Establish a standard protocol for polyclonal antibody against small peptide in rabbit.\r\n', u'\r\n', u'
Carrier Proteins/ administration &
;
dosage
;
chemistry
;
Rabbits
7.Mac-2 Binding Protein Glycosylation Isomer: Emerging Non-Invasive Serum Marker for Liver Fibrosis.
Annals of Laboratory Medicine 2018;38(4):289-290
No abstract available.
Biomarkers*
;
Carrier Proteins*
;
Glycosylation*
;
Liver Cirrhosis*
;
Liver*
8.Role of GTP
Journal of Korean Society of Endocrinology 1994;9(3):163-179
No abstract available.
Carrier Proteins
;
Guanosine Triphosphate
;
Signal Transduction
10.Urine Concentrating Mechanism and Urea Transporters.
Journal of the Korean Society of Pediatric Nephrology 2005;9(1):1-7
The production of concentrated urine is achieved by countercurrent multiplication in the renal medulla. The single effect of the outer medulla is the active NaCl reabsorption in the thick ascending limb, while the single effect of the inner medulla is the passive efflux of NaCl through the thin ascending limb. The passive mechanism in the inner medulla requires a high interstitial urea concentration which is maintained by intrarenal recycling of urea. During the past decade, many transport proteins involved in the urine concentrating mechanism have been cloned, which has enabled us to understand the countercurrent multiplication mechanism on a molecular basis. This review will summarize the locations and functions of the renal medullary transport proteins, and the recent insights that have been acquired into the long term regulation of urea transporters.
Carrier Proteins
;
Clone Cells
;
Extremities
;
Recycling
;
Urea*
;
Water