scholarly journals NBN Gene

2020 ◽  
Author(s):  
Keyword(s):  
Nbn Gene

The c.657del5 variant in the NBN gene predisposes to pancreatic cancer

Gene ◽  
2016 ◽  
Vol 587 (2) ◽  
pp. 169-172 ◽  
Author(s):  
Marianna Borecka ◽  
Petra Zemankova ◽  
Filip Lhota ◽  
Jana Soukupova ◽  
Petra Kleiblova ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Nbn Gene

scholarly journals Genetic Variation in the 3'-Untranslated Region of NBN Gene Is Associated with Gastric Cancer Risk in a Chinese Population

PLoS ONE ◽  
2015 ◽  
Vol 10 (9) ◽  
pp. e0139059 ◽  
Author(s):  
Ping Sun ◽  
Jiangbo Du ◽  
Xun Zhu ◽  
Chuanli Ren ◽  
Lan Xie ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Genetic Variation ◽  
Cancer Risk ◽  
Chinese Population ◽  
Untranslated Region ◽  
Gastric Cancer Risk ◽  
Nbn Gene

scholarly journals Nuclear Export of NBN Is Required for Normal Cellular Responses to Radiation

2008 ◽  
Vol 29 (4) ◽  
pp. 1000-1006 ◽  
Author(s):  
Christine S. Vissinga ◽  
Tiong C. Yeo ◽  
Sarah Warren ◽  
James V. Brawley ◽  
Jennifer Phillips ◽  
...  
Keyword(s):  
Nuclear Export ◽  
Mammalian Cells ◽  
Cellular Response ◽  
Nuclear Export Signal ◽  
Nijmegen Breakage Syndrome ◽  
Dna Double Strand Breaks ◽  
Gene Encoding ◽  
Mrn Complex ◽  
Nbn Gene

ABSTRACT Nijmegen breakage syndrome arises from hypomorphic mutations in the NBN gene encoding nibrin, a component of the MRE11/RAD50/nibrin (MRN) complex. In mammalian cells, the MRN complex localizes to the nucleus, where it plays multiple roles in the cellular response to DNA double-strand breaks. In the current study, sequences in mouse nibrin required to direct the nuclear localization of the MRN complex were identified by site-specific mutagenesis. Unexpectedly, nibrin was found to contain both nuclear localizing signal (NLS) sequences and a nuclear export signal (NES) sequence whose functions were confirmed by mutagenesis. Both nuclear import and export sequences were active in vivo. Disruption of either the NLS or NES sequences of nibrin significantly altered the cellular distribution of nibrin and Mre11 and impaired survival after exposure to ionizing radiation. Mutation of the NES sequence in nibrin slowed the turnover of phosphorylated nibrin after irradiation, indicating that nuclear export of nibrin may function, in part, to downregulate posttranslationally modified MRN complex components after DNA damage responses are complete.

scholarly journals Heterozygous p.I171V mutation of the NBN gene as a risk factor for lung cancer development

2015 ◽  
Vol 10 (5) ◽  
pp. 3300-3304 ◽  
Author(s):  
EWELINA MARIA KAŁUŻNA ◽  
JOLANTA REMBOWSKA ◽  
IWONA ZIÓŁKOWSKA-SUCHANEK ◽  
BOGNA ŚWIĄTEK-KOŚCIELNA ◽  
PIOTR GABRYEL ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Risk Factor ◽  
Cancer Development ◽  
Nbn Gene

scholarly journals NBN Gene Polymorphisms and Cancer Susceptibility: A Systemic Review

2013 ◽  
Vol 14 (7) ◽  
pp. 425-440 ◽  
Author(s):  
Francesco Berardinelli ◽  
Alessandra Masi ◽  
Antonio Antoccia
Keyword(s):  
Gene Polymorphisms ◽  
Cancer Susceptibility ◽  
Systemic Review ◽  
Nbn Gene

Is the NBN Gene Mutation I171V a Potential Risk Factor for Malignant Solid Tumors in Children?

2011 ◽  
Vol 33 (6) ◽  
pp. e248-e249 ◽  
Author(s):  
Jerzy Nowak ◽  
Maria Mosor ◽  
Karina Nowicka ◽  
Jolanta Rembowska ◽  
Danuta Januszkiewicz
Keyword(s):  
Risk Factor ◽  
Solid Tumors ◽  
Gene Mutation ◽  
Potential Risk ◽  
Potential Risk Factor ◽  
Nbn Gene

scholarly journals Involvement of NBN gene polymorphism in predisposition to dystropic diseases

2020 ◽  
pp. 98-99
Author(s):  
А.Е. Постригань ◽  
Н.П. Бабушкина ◽  
А.Н. Кучер
Keyword(s):  
Genetic Polymorphism ◽  
Gene Polymorphism ◽  
Bronchial Asthma ◽  
Population Sample ◽  
Total Sample ◽  
Clinical Level ◽  
Directional Change ◽  
Genetic Features ◽  
Nbn Gene

Изучение генетических особенностей дистропных заболеваний (в том числе, астмы и туберкулеза), определяющих формирование взаимоисключающих фенотипов на клиническом уровне, важно для лучшего понимания их патогенеза. Цель настоящего исследования заключалась в оценке значимости генетического полиморфизма гена NBN в формировании предрасположенности к астме и туберкулезу. Изучена изменчивость rs1805800 и rs709816 гена NBN в выборках больных бронхиальной астмой (БА), туберкулезом (ТБ) и популяционной выборке г. Томска (ПВ), общая выборка составила 683 человека. Показано разнонаправленное изменение частот аллелей, генотипов, сочетаний генотипов по rs1805800 и rs709816 гена NBN между группами больных БА и ТБ по сравнению с популяционной выборкой. Для развития БА генотип CT rs1805800 обладает рисковым (OR=1,66, χ2=5,41, p=0,02); а генотипа СС - протективным (OR=0,57, χ2=5,57, p=0,018) эффектом. Статистически значимые различия между группами БА и ТБ выявлены также по частотам сочетаний генотипов rs1805800/rs709816 в гене NBN (χ2 = 12,88; p=0,045). The research of genetic features of dystropic diseases (including asthma and tuberculosis) that determine the formation of mutually exclusive phenotypes at the clinical level is important for a better understanding of their pathogenesis. The aim of this study was to assess the significance of the genetic polymorphism of the NBN gene in the formation of a predisposition to asthma and tuberculosis. The variability of rs1805800 and rs709816 of the NBN gene in the samples of patients with bronchial asthma (BA), tuberculosis (TB) and the population sample of Tomsk (PV) was studied, the total sample was 683 people. The different-directional change of frequencies of alleles, genotypes, combinations of genotypes by rs1805800 and rs709816 of the NBN gene between groups of patients with BA and TB compared to the population sample is shown. For the development of BA, the genotype CT rs1805800 is risky (OR=1.66, χ2=5.41, p=0.02); And the SS genotype is a protective (OR=0.57, χ2=5.57, p=0.018) effect. Statistically significant differences between BA and TB groups are also revealed by the frequencies of combinations of the genotypes rs1805800/rs709816 in the NBN gene (χ2=12.88; p=0,045).

scholarly journals A case of Nijmegen syndrome in a child with frequent relapses of a respiratory infection

2020 ◽  
Vol 10 (6) ◽  
pp. 85-92
Author(s):  
Elena A. Besedina ◽  
Dmitry V. Prometnoy ◽  
Svetlana G. Piskunova ◽  
Olga S. Selezneva ◽  
Larisa E. Kharakhashyan ◽  
...  
Keyword(s):  
Viral Infections ◽  
Molecular Genetic ◽  
Laboratory Data ◽  
Well Being ◽  
Molecular Genetic Analysis ◽  
Frequent Relapses ◽  
Nbn Gene ◽  
Complicated Course ◽  
Increased Sensitivity ◽  
Phenotypic Features

The article provides clinical dynamic observation of a child with a primary immunodeficiency state, presents the stages of the differential diagnostic search for congenital genetic pathology. Nijmegen syndrome is an autosomal recessive disease caused by a mutation of the NBN gene, characterized by microcephaly, Bird facial features, delayed physical development, immunodeficiency, congenital malformations, increased sensitivity to x-ray radiation and a high susceptibility to cancer. This syndrome is relevant for Russian pediatricians due to the high frequency of carriage of the Slavic NBN gene mutation among the population of the Russian Federation. The presented clinical observation describes a patient with characteristic phenotypic features, frequent episodes of acute respiratory viral infections (up to 8 times a year) with the addition of a bacterial infection, fever up to febrile numbers. The duration of verification of the immunodeficiency state was 5 years. Despite the complicated course of infectious diseases, the general well-being of the child did not suffer significantly, the level of neuropsychic development corresponded to age. The diagnosis of Nijmegens syndrome was made on the basis of characteristic phenotypic features, anamnesis, and laboratory data, instrumental studies and confirmed by the results of molecular genetic analysis.

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