scholarly journals The functional effect of Gly209 and Ile213 substitutions on lysozyme activity of family 19 chitinase encoded by cyanophage Ma-LMM01

2011 ◽  
Vol 77 (4) ◽  
pp. 665-670 ◽  
Author(s):  
Naohiko Hosoda ◽  
Yoichi Kurokawa ◽  
Yoshihiko Sako ◽  
Keizo Nagasaki ◽  
Takashi Yoshida ◽  
...  
Author(s):  
V.Ya. Sarukhanov ◽  
◽  
N.N. Isamov ◽  
I.M. Kolganov ◽  
◽  
...  
Keyword(s):  

2020 ◽  
Vol 22 (10) ◽  
pp. 675-682 ◽  
Author(s):  
Jie Yin ◽  
Zhongping Qin ◽  
Kai Wu ◽  
Yufei Zhu ◽  
Landian Hu ◽  
...  

Backgrounds and Objective: Blue rubber bleb nevus syndrome (BRBN) or Bean syndrome is a rare Venous Malformation (VM)-associated disorder, which mostly affects the skin and gastrointestinal tract in early childhood. Somatic mutations in TEK have been identified from BRBN patients; however, the etiology of TEK mutation-negative patients of BRBN need further investigation. Method: Two unrelated sporadic BRBNs and one sporadic VM were firstly screened for any rare nonsilent mutation in TEK by Sanger sequencing and subsequently applied to whole-exome sequencing to identify underlying disease causative variants. Overexpression assay and immunoblotting were used to evaluate the functional effect of the candidate disease causative variants. Results: In the VM case, we identified the known causative somatic mutation in the TEK gene c.2740C>T (p.Leu914Phe). In the BRBN patients, we identified two rare germline variants in GLMN gene c.761C>G (p.Pro254Arg) and c.1630G>T(p.Glu544*). The GLMN-P254R-expressing and GLMN-E544X-expressing HUVECs exhibited increased phosphorylation of mTOR-Ser-2448 in comparison with GLMN-WTexpressing HUVECs in vitro. Conclusion: Our results demonstrated that rare germline variants in GLMN might contribute to the pathogenesis of BRBN. Moreover, abnormal mTOR signaling might be the pathogenesis mechanism underlying the dysfunction of GLMN protein.


Author(s):  
Amina Jouida ◽  
Cormac McCarthy ◽  
Aurelie Fabre ◽  
Michael P. Keane

AbstractExosomes are major contributors in cell to cell communication due to their ability to transfer biological material such as protein, RNA, DNA, and miRNA. Additionally, they play a role in tumor initiation, promotion, and progression, and recently, they have emerged as a potential source of information on tumor detection and may be useful as diagnostic, prognostic, and predictive tools. This review focuses on exosomes from lung cancer with a focus on EGFR mutations. Here, we outline the role of exosomes and their functional effect in carcinogenesis, tumor progression, and metastasis. Finally, we discuss the possibility of exosomes as novel biomarkers in early detection, diagnosis, assessment of prognosis, and prediction of therapeutic response in EGFR-mutated lung cancer.


Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 168
Author(s):  
Manuela Sterrantino ◽  
Andrea Fuso ◽  
Silvia Pierandrei ◽  
Sabina Maria Bruno ◽  
Giancarlo Testino ◽  
...  

Genetic analysis in cystic fibrosis (CF) is a difficult task. Within the many causes of variability and uncertainty, a major determinant is poor knowledge of the functional effect of most DNA variants of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. In turn, knowledge of the effect of a CFTR variant has dramatic diagnostic, prognostic and, in the era of CF precision medicine, also therapeutic consequences. One of the most challenging CFTR variants is the (TG)mTn haplotype, which has variable functional effect and controversial clinical consequences. The exact quantification of the anomalous splicing of CFTR exon 10 (in the HGVS name; exon 9 in the legacy name) and, consequently, of the residual wild-type functional CFTR mRNA, should be mandatory in clinical assessment of patients with potentially pathological haplotype of this tract. Here, we present a real time-based assay for the quantification of the proportion of exon 10+/exon 10− CFTR mRNA, starting from nasal brushing. Our assay proved rapid, economic and easy to perform. Specific primers used for this assay are either disclosed or commercially available, allowing any laboratory to easily perform it. A simplified analysis of the data is provided, facilitating the interpretation of the results. This method helps to enhance the comprehension of the genotype–phenotype relationship in CF and CFTR-related disorders (CFTR-RD), crucial for the diagnosis, prognosis and personalized therapy of CF.


2005 ◽  
Vol 94 (5) ◽  
pp. 746-752 ◽  
Author(s):  
Haijun Zhang ◽  
Yuming Guo ◽  
Jianmin Yuan

This study was undertaken to investigate the growth performance and immune responses of broiler chicks fed diets supplemented with conjugated linoleic acid (CLA). Two hundred and forty day-old Arbor Acre male broiler chicks were randomly allotted into four dietary treatments with different inclusion levels of CLA (0, 2·5, 5·0 or 10·0g pure CLA/kg) for 6 weeks. Growth performance, lysozyme activity, peripheral blood mononuclear cell (PBMC) proliferation, prostaglandin E2 (PGE2) synthesis and antibody production were investigated. There were no significant differences in growth performance among treatments (P>0·05). Chicks fed 10·0g CLA/kg diet produced 40% and 49% more lysozyme activity in serum and spleen than the control group at 21d of age (P<0·05). Dietary CLA enhanced the PBMC proliferation in response to concanavalin A at the age of 21 and 42d (P<0·05). Systemic and peripheral blood lymphocytic synthesis of PGE2 in chicks fed 10·0g CLA/kg diet was significantly decreased by 57% and 42% compared to chicks fed control diet (P<0·05). Antibody production to sheep red blood cell and bovine serum albumin were elevated in either 2·5 or 10·0g CLA/kg dietary treatments (P<0·05). The results indicated dietary CLA could enhance the immune response in broiler chicks, but did not alter the growth performance.


1998 ◽  
Vol 331 (1) ◽  
pp. 245-249 ◽  
Author(s):  
Margaret E. KARGACIN ◽  
Zenobia ALI ◽  
Gary J. KARGACIN

The activity of the SERCA2a Ca2+ pump in the sarcoplasmic reticulum (SR) of cardiac muscle is inhibited by phospholamban. When phospholamban is phosphorylated by cyclic-AMP-dependent protein kinase (PKA) this inhibition is relieved. It is generally agreed that this results in an increase in the Ca2+ sensitivity of the SR Ca2+ pump; however, some investigators have also reported an increase in the maximum velocity of the pump. We have used a sensitive fluorescence method to measure net Ca2+ uptake by native cardiac SR vesicles and compared the effects of a constitutively active subunit of PKA (cPKA) with those of a monoclonal antibody (A1) that binds to phospholamban and is thought to mimic the effect of phosphorylation. Both the Ca2+ sensitivity and the maximum velocity of uptake were increased by cPKA and by A1. The effects of cPKA and A1 on uptake velocity were only slightly additive. No changes in uptake were detected with denatured cPKA or denatured A1. These results indicate that the functional effect of phospholamban phosphorylation is to increase both the Ca2+ sensitivity and the maximum velocity of net Ca2+ uptake into the SR.


2015 ◽  
Vol 290 (22) ◽  
pp. 13935-13947 ◽  
Author(s):  
Kaitlen Samse ◽  
Jacqueline Emathinger ◽  
Nirmala Hariharan ◽  
Pearl Quijada ◽  
Kelli Ilves ◽  
...  

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