Evidence for GAL3ST4 mutation as the potential cause of pectus excavatum

Wu, Song; Sun, Xiaojuan; Zhu, Weimin; Huang, Yi; Mou, Lisha; Liu, Mingming; Li, Xia; Li, Feiyang; Li, Xianxin; Zhang, Yong; Wang, Zheng; Li, Wen‐Cui; Li, Zesong; Tang, Aifa; Gui, Yaoting; Wang, Rongfu; Li, Weiping; Cai, Zhiming; Wang, Daping

doi:10.1038/cr.2012.149

Cited by 21 publications

(14 citation statements)

References 10 publications

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“…The proportion of PNCK- expressing tumor cells was scored as follows: 0, no positive cells; 1, 0%–5%; 2, 6%–25%; 3, 26%–50%; 4, 51%–75%; and 5, >75% according to Tsuchiya et al The staining intensity was graded according to the mean optical density: 0, no staining; 1, weak staining (light yellow); 2, moderate staining (yellow brown) and 3, strong staining (brown) as shown in figure3.B,C,D. [32], [33] Staining index was calculated as the multiplication of staining intensity score and the proportion of PNCK-positive tumor cells. We evaluated PNCK expression in benign kidney tissue and malignant lesions on the basis of the staining index values, with scores of 0, 1, 2, 3, 4, 5, 6, 8, 9, 10, 12, and 15.…”

Section: Methodsmentioning

confidence: 99%

Increased Expression of Pregnancy Up-Regulated Non-Ubiquitous Calmodulin Kinase Is Associated with Poor Prognosis in Clear Cell Renal Cell Carcinoma

Wang

et al. 2013

PLoS ONE

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PurposeThe aims of this study were to evaluate the clinical significance and potential prognostic value of pregnancy up-regulated non-ubiquitous calmodulin kinase (PNCK) in clear cell renal cell carcinoma (ccRCC) patients.Materials and MethodsThe expression of PNCK mRNA was determined in 24 paired samples of ccRCCs and adjacent normal tissues using real-time RT-PCR. The expression of PNCK was determined in 248 samples of ccRCCs and 92 paired samples of adjacent normal tissues by immunohistochemical analysis. Statistical analysis was performed to define the relationship between PNCK expression and the clinical features of ccRCC.ResultsThe mRNA level of PNCK was significantly higher in tumorous tissues than in the adjacent non-tumorous tissues (p<0.001). An immunohistochemical analysis of 92 paired tissue specimens showed that PNCK expression was higher in tumorous tissues than in the adjacent non-tumorous tissues (p<0.001). Moreover, there was a significant correlation between the PNCK expression and various clinicopathological parameters such as Fuhrman grade (p = 0.011), tumor size (p<0.001), T stage (p<0.001) and N stage (p = 0.015). Patients with higher PNCK expression had shorter overall survival time than those with lower PNCK expression (p<0.001). Multivariate analysis indicated that PNCK expression was an independent predictor for poor survival of ccRCC patients.ConclusionsTo our knowledge, this is the first study that determines the relationship between PNCK and prognosis in ccRCC. We found that increased PNCK expression is associated with poor prognosis in ccRCC. PNCK may represent a novel prognostic marker for ccRCC.

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Section: Methodsmentioning

confidence: 99%

Increased Expression of Pregnancy Up-Regulated Non-Ubiquitous Calmodulin Kinase Is Associated with Poor Prognosis in Clear Cell Renal Cell Carcinoma

Wang

et al. 2013

PLoS ONE

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“…Robiscek et al stated that PE was a recessively transmitting disease, but Jarowski et al reported that although 40% of the cases had a family history, it was not possible to introduce a strict relation to genetics [5,12]. Wu et al reported that the disease was a recessive genetic disease and 40% of the cases had a family history of chest wall deformity, besides they defined a mutation on GAL3ST4 gene [13]. In the etiopathogenesis of PE, intrauterine compression, rickets, pulmonary restriction and insufficiency in osteogenesis or chondrogenesis were the considered theories [14].…”

Section: Pectus Excavatummentioning

confidence: 99%

Chest wall deformities and coincidence of additional anomalies, screening results of the 25.000 turkish children with the review of the literature

Tokur¹,

Demiröz²,

Sayan³

et al. 2016

Curr Thorac Surg

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Background: The main subtypes of chest wall deformities are pectus excavatum (PE) and pectus carinatum (PC). Although these are not life threatening diseases, some functional or physico-social disabilities due to the abnormal chest wall structure require treatment. The main stem of the treatment is surgical correction. Since the beginning of the 20 th century various surgical techniques were introduced. In the last few decades some minimally invasive surgical techniques were also described. In the English literature many reports suggest that the vast majority of these abnormalities are PE. But in most of the reports patient groups consist of hospital admissions. The real frequency of this group of disease is controversial. Materials and Methods: In this report, a wide field study was designed to find the real frequency of the chest wall diseases. Total of 25117 children between 6-11 years of age were visited in the elementary schools of Kahramanmaraş. The team members were a thoracic surgeon, a pulmonologist and a pediatrician. Results: A careful physical examination revealed that a total of 255 patients had different degrees of chest wall deformity. We found that PC (90.58%) was the most frequent type of deformity in contrast with the previous reports suggesting PE as the most frequent type. In our results only 5.49% of the patients had PE and 3.93% of the patients had mixed type PE+PC. The most frequent ECG abnormality seen in 49 cases (19% of cases with deformity) was a negative T wave on V1 derivation and a biphasic T wave configuration on V1-V2 derivations. 8 patients (3.13%) had concomitant scoliosis and 6 patients (%2.35) had different degrees of cardiomegaly. Conclusions: The real frequency of chest wall deformities is an enigma. When PE patients themselves or their family notice the abnormality, they may consider it as a big health problem and admit to a healthcare unit. But in contrast, PC patients mostly do not care about this disorder until adolescence, so admission rate is less then PE. We suggest that the real frequency of the chest wall deformities may be found only by widespread field studies. Moreover, we found more accompanying cardiac disorders in PC group, and this type of screening may allow early diagnosis of some cardiac diseases.

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“…With the rapid development of DNA sequencing technology, the power of exome sequencing for gene mapping of diseases has been demonstrated ( 12 – 14 ). Exome sequencing can help to identify novel causal genetic variants, as it covers all exon regions.…”

Section: Introductionmentioning

confidence: 99%

Identification of a novel EXT1 mutation in patients with hereditary multiple exostosis by exome sequencing

Liu

et al. 2014

Oncology Reports

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Hereditary multiple exostosis (HME) is an autosomal inherited skeletal disease whose etiology is not fully understood. To further understand the genetic spectrum of the disease, we analyzed a five-generation Chinese family with HME that have observable inheritance. Exome sequencing was performed on three HME individuals and three unaffected individuals from the family. A downstream study confirmed a new C deletion at codon 442 on exon 5 of the exostosin-1 (EXT1) gene as the only pathogenic site which generated a stop codon and caused the truncation of the protein. We rediscovered the deletion in other affected individuals but not in the unaffected individuals from the family. Upon immunohistochemistry assay, we found that the EXT1 protein level of the patients with the novel mutation in our study was less than the level in the patients without the EXT1 mutation from another unrelated family. For a deeper understanding, we analyzed the mutation spectrum of the EXT1 gene. The present study should facilitate a further understanding of HME.

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Evidence for GAL3ST4 mutation as the potential cause of pectus excavatum

Cited by 21 publications

References 10 publications

Increased Expression of Pregnancy Up-Regulated Non-Ubiquitous Calmodulin Kinase Is Associated with Poor Prognosis in Clear Cell Renal Cell Carcinoma

Increased Expression of Pregnancy Up-Regulated Non-Ubiquitous Calmodulin Kinase Is Associated with Poor Prognosis in Clear Cell Renal Cell Carcinoma

Chest wall deformities and coincidence of additional anomalies, screening results of the 25.000 turkish children with the review of the literature

Identification of a novel EXT1 mutation in patients with hereditary multiple exostosis by exome sequencing

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