同: fumarylacetoacetate hydrolase

WordNet

the 6th letter of the Roman alphabet (同)f

PrepTutorEJDIC

〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥

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1. チロシン代謝障害 disorders of tyrosine metabolism
2. 小児における急性肝不全：病因および評価 acute liver failure in children etiology and evaluation
3. ALA脱水酵素欠損性ポルフィリン症 ala dehydratase porphyria
4. 新生児胆汁うっ滞の原因 causes of neonatal cholestasis
5. 肝細胞移植 hepatocyte transplantation

English Journal

Direct Reprogramming of Human Fibroblasts to Functional and Expandable Hepatocytes.

Huang P1, Zhang L1, Gao Y1, He Z2, Yao D3, Wu Z3, Cen J1, Chen X1, Liu C2, Hu Y2, Lai D4, Hu Z5, Chen L6, Zhang Y6, Cheng X1, Ma X6, Pan G3, Wang X7, Hui L8.Author information 1State Key Laboratory of Cell Biology, Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China.2Department of Cell Biology, Second Military Medical University, Shanghai 200433, China.3Center for Drug Safety Evaluation and Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai 201203, China.4The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200030, China.5Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200127, China.6Laboratory of Biomedical Material Engineering, Dalian Institute of Chemical Physics, Chinese Academy of Sciences, Dalian 116023, China.7Key Laboratory of National Education Ministry for Mammalian Reproductive Biology and Biotechnology, Inner Mongolia University, Hohhot 010021, China; Department of Laboratory Medicine and Pathology, Stem Cell Institute, University of Minnesota, Minneapolis, MN 55455, USA; Hepatoscience Incorporation, 4062 Fabian Way, Palo Alto, CA 94303, USA.8State Key Laboratory of Cell Biology, Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China. Electronic address: ljhui@sibcb.ac.cn.AbstractThe generation of large numbers of functional human hepatocytes for cell-based approaches to liver disease is an important and unmet goal. Direct reprogramming of fibroblasts to hepatic lineages could offer a solution to this problem but so far has only been achieved with mouse cells. Here, we generated human induced hepatocytes (hiHeps) from fibroblasts by lentiviral expression of FOXA3, HNF1A, and HNF4A. hiHeps express hepatic gene programs, can be expanded in vitro, and display functions characteristic of mature hepatocytes, including cytochrome P450 enzyme activity and biliary drug clearance. Upon transplantation into mice with concanavalin-A-induced acute liver failure and fatal metabolic liver disease due to fumarylacetoacetate dehydrolase (Fah) deficiency, hiHeps restore the liver function and prolong survival. Collectively, our results demonstrate successful lineage conversion of nonhepatic human cells into mature hepatocytes with potential for biomedical and pharmaceutical applications.
Cell stem cell.Cell Stem Cell.2014 Feb 27. pii: S1934-5909(14)00004-6. doi: 10.1016/j.stem.2014.01.003. [Epub ahead of print]
The generation of large numbers of functional human hepatocytes for cell-based approaches to liver disease is an important and unmet goal. Direct reprogramming of fibroblasts to hepatic lineages could offer a solution to this problem but so far has only been achieved with mouse cells. Here, we gener
PMID 24582927

A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing.

Liu G1, Wei X, Chen R, Zhou H, Li X, Sun Y, Xie S, Zhu Q, Qu N, Yang G, Chu Y, Wu H, Lan Z, Wang J, Yang Y, Yi X.Author information 1School of Bioscience & Bioengineering, South China University of Technology, Guangzhou 510640, China; BGI-Shenzhen, Shenzhen 518083, China.AbstractType II citrullinaemia, also known as citrin deficiency, is an autosomal recessive metabolic disorder, which is caused by pathogenic mutations in the SLC25A13 gene on chromosome 7q21.3. One of the clinical manifestations of type II citrullinaemia is neonatal intrahepatic cholestatic hepatitis caused by citrin deficiency (NICCD, OMIM# 605814). In this study, a 5-month-old female Chinese neonate diagnosed with type II citrullinaemia was examined. The diagnosis was based on biochemical and clinical findings, including organic acid profiling using a gas chromatography mass spectrometry (GC/MS), and the patient's parents were unaffected. Approximately 14 kb of the exon sequences of the SLC25A13 and two relative genes (ASS1 and FAH) from the proband and 100 case-unrelated controls were captured by array-based capture method followed by high-throughput next-generation sequencing. Two single-nucleotide mutations were detected in the proband, including the previous reported c.1177+1G>A mutation and a novel c.754 G>A mutation in the SLC25A13 gene. Sanger sequence results showed that the patient was a compound heterozygote for the two mutations. The novel mutation (c.754 G>A), which is predicted to affect the normal structure and function of citrin, is a candidate pathogenic mutation. Target sequence capture combined with high-throughput next-generation sequencing technologies is proven to be an effective method for molecular genetic testing of type II citrullinaemia.
Gene.Gene.2014 Jan 10;533(2):547-53. doi: 10.1016/j.gene.2013.10.021. Epub 2013 Oct 23.
Type II citrullinaemia, also known as citrin deficiency, is an autosomal recessive metabolic disorder, which is caused by pathogenic mutations in the SLC25A13 gene on chromosome 7q21.3. One of the clinical manifestations of type II citrullinaemia is neonatal intrahepatic cholestatic hepatitis caused
PMID 24161253

[Analysis of CYP21A2 gene mutation in one case of congenital adrenal hyperplasia].

Lin XM1, Wu BQ, Huang JJ, Li B, Fan Y, Lin LH, Yao QX, Wu WY, Yu L.Author information 1Department of Pediatrics, Shenzhen People's Hospital, Second Clinical Medical College of Jinan University, Shenzhen, Guangdong 518020, China. linxmyx@yahoo.com.cn.AbstractCYP21A2 gene mutations in a child with congenital adrenal hyperplasia (CAH), and the child's parents, were detected in the study. The clinical features, treatment monitoring and molecular genetic mechanism of CAH are reviewed. In the study, DNA was extracted from peripheral blood samples using the QIAGEN Blood DNA Mini Kit; a highly specific PCR primer for CYP21A2 gene was designed according to the sequence difference between CYP2lA2 gene and its pseudogene; the whole CYP2lA2 gene was amplified with PrimeSTAR DNA polymerase (Takara), and the amplification product was directly sequenced to detect and analyze CYP2lA2 gene mutation. The child was clinically diagnosed with CAH (21-hydroxylase deficiency, 21-OHD) at the age of 36 days, and the case was confirmed by genetic diagnosis at the age of 1.5 years. The proband had a homozygous mutation at c.293-13C in the second intron of CYP21 gene, while the parents had heterozygous mutations. Early diagnosis and standard treatment of CAH (21-OHD) should be performed to prevent salt-wasting crisis and reduce mortality; bone aging should be avoided to increase final adult height (FAH), and reproductive dysfunction due to oligospermia in adulthood should be avoided. These factors are helpful for improving prognosis and increasing FAH. Investigating the molecular genetic mechanism of CAH can improve recognition and optimize diagnosis of this disease. In addition, carrier diagnosis and genetic counseling for the proband family are of great significance.
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.Zhongguo Dang Dai Er Ke Za Zhi.2013 Nov;15(11):942-7.
CYP21A2 gene mutations in a child with congenital adrenal hyperplasia (CAH), and the child's parents, were detected in the study. The clinical features, treatment monitoring and molecular genetic mechanism of CAH are reviewed. In the study, DNA was extracted from peripheral blood samples using the Q
PMID 24229585

Japanese Journal

幼若期肝機能障害時の経静脈栄養法に関する基礎的研究

真田裕,平井慶徳
日本小児外科学会雑誌 17(2), 185-194, 1981-04
… A deficiency of nutrients, therefore, is often associated with liver diseases and may be caused by decreased storaged, abnormalities in metabolism or increased requirements for nutrients. … feeding regimens used in the series consisted of glucose and commercially available L-synthetic amino acids PROTEAMIN (E/N : 1.0, FAO/WHO : , 1963) or newly deviced L-synthetic amino acids FAH-01, made for the subjects. …
NAID 110002136702

8. ウイルス性白血病ネズミの肝および脾からのFAH_4-dehydrogenaseの特性と活性の比較

真田浩,田口博国
ビタミン 40(2), 83, 1969-08-25
… Twenty-five inpatients of a psychiatric clinic showed high incidence of the sign of folic acid deficiency. …
NAID 110002867077