Abstract：
BACKGROUND:As an X-linked recessive way, arginine vasopressin receptor 2 (AVPR2) gene mutation resulted in a hereditary disease - congenital nephrogenic diabetes insipidus (CNDI). We found a suspect clinical CNDI pedigree. In order to identify the genetic etiology, we performed the genetic analysis. METHODS:The clinical features of the proband and his family members were recorded. The laboratory tests and imaging inspections were analyzed. The water deprivation and pituitrin loading test were performed in the proband and his brother. The genomic DNA of all the members of the pedigree was extracted and then PCR amplification on AVPR2 gene was carried out. Sequencing in both directions was performed to identify mutation on AVPR2 gene. RESULTS:Both the proband and his brother were diagnosed as CNDI, meanwhile the other members of this pedigree were normal. No severe biochemical abnormality was found in the two CNDI patients. Both the patients had moderate urinary retention, severe megaloureter and hydronephrosis, and mild renal insufficiency. Two mutations of AVPR2 gene were discovered in the 3rd exon in the patients, a silent mutation L309L and a nonsense mutation R337X. The AVPR2 gene R337X mutation was co-segregated with CNDI. R337X mutation was not a reported mutation in the mainland of China. CONCLUSION:The AVPR2 gene R337X mutation was also a genetic etiology of CNDI patients in the mainland of China.
journal_name
Chin Med J (Engl)journal_title
Chinese medical journalauthors
Shen Y,Lai X,Xiao X,Li J,Yu R,Gao H,Zhang Msubject
Has Abstractpub_date
2014-01-01 00:00:00pages
1089-92issue
6eissn
0366-6999issn
2542-5641journal_volume
127pub_type
杂志文章abstract：OBJECTIVE:To study protective immunity afforded by murine immunization with DNA vaccine of Schistosoma japonicum (S. japonicum) as measured by reduction in worm burden and host antibody, cytokines. METHODS:DNA vaccine pCD-Sj32 was constructed, identified and expressed. pCD-Sj32 could induce substantial protective immu...
journal_title：Chinese medical journal
pub_type： 杂志文章
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journal_title：Chinese medical journal
pub_type： 杂志文章
doi：10.1097/CM9.0000000000000172
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abstract：:Immunohistochemical and ultrastructural findings in a primary intracranial endodermal sinus tumor are reported in this paper. The tumor cells exhibited AFP, CEA and anti-alpha-1-trypsin positive immunoreactivity immunocytochemically. Aggregates of electron-dense material in the extra- and intracellular spaces and amor...
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journal_title：Chinese medical journal
pub_type： 杂志文章
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更新日期：2004-03-01 00:00:00
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journal_title：Chinese medical journal
pub_type： 临床试验,杂志文章
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更新日期：2010-11-01 00:00:00
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journal_title：Chinese medical journal
pub_type： 杂志文章
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journal_title：Chinese medical journal
pub_type： 杂志文章
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更新日期：2003-08-01 00:00:00
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journal_title：Chinese medical journal
pub_type： 杂志文章,多中心研究
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更新日期：2013-01-01 00:00:00
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journal_title：Chinese medical journal
pub_type： 杂志文章
doi：
更新日期：2011-12-01 00:00:00
abstract：BACKGROUND:Roundabout 5 (R5) is a monoclonal antibody which can neutralize the binding of Roundabout 1 (Robo1) to Slit2. Oral squamous cell carcinoma angiogenesis was significantly inhibited when R5 blocked slit-robo signaling pathway. However, the effect of R5 on the invasion of tongue cancer cells has not been invest...
journal_title：Chinese medical journal
pub_type： 杂志文章
doi：
更新日期：2011-08-01 00:00:00
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journal_title：Chinese medical journal
pub_type： 杂志文章
doi：
更新日期：2002-02-01 00:00:00
abstract：BACKGROUND:Whether antibody to myelin oligodendrocyte glycoprotein (MOG) can be a diagnostic marker for multiple sclerosis (MS) is still controversial. Recent studies suggested that serum specific anti-MOG epitope antibody might be an MS specific marker. However, these studies did not include neuromyelitis optica (NMO)...
journal_title：Chinese medical journal
pub_type： 杂志文章
doi：
更新日期：2012-09-01 00:00:00
abstract：OBJECTIVE:To detect occult metastases in lymph nodes from patients with colorectal carcinoma and its clinical significance. METHODS:The metastases in 260 lymph nodes from 39 histologically verified colorectal cancer patients were studied by both hematoxylin-eosin (HE) staining and cytokeratin-20 (CK20) specific RT-PCR...
journal_title：Chinese medical journal
pub_type： 杂志文章
doi：
更新日期：2002-04-01 00:00:00
abstract：BACKGROUND:Thoracic endovascular aortic repair (TEVAR) is an emerging treatment modality, which has been rapidly embraced by clinicians treating thoracic aortic disease. However, the clinical manifestations of systemic inflammatory response after TEVAR as post-implantation syndrome (PIS) resemble the perioperative infe...
journal_title：Chinese medical journal
pub_type： 杂志文章
doi：
更新日期：2014-01-01 00:00:00
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pub_type： 杂志文章
doi：
更新日期：2014-01-01 00:00:00
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journal_title：Chinese medical journal
pub_type： 杂志文章
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journal_title：Chinese medical journal
pub_type： 杂志文章,评审
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journal_title：Chinese medical journal
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doi：
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journal_title：Chinese medical journal
pub_type： 杂志文章
doi：
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journal_title：Chinese medical journal
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