Child s Nervous System
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Published By Springer-Verlag

1433-0350, 0256-7040

Author(s):  
Viswajit Kandula ◽  
Laila M. Mohammad ◽  
Vineeth Thirunavu ◽  
Melissa LoPresti ◽  
Molly Beestrum ◽  
...  

Author(s):  
Mustafa Sakar ◽  
Serdar Çevik ◽  
Semra Işık ◽  
Hassan Haidar ◽  
Yener Şahin ◽  
...  

Author(s):  
Demitre Serletis ◽  
Carling MacDonald ◽  
Qi Xu ◽  
Colin J. Kazina ◽  
Shyamala Dakshinamurti ◽  
...  

Author(s):  
Eduardo Cambruzzi ◽  
Mateus Scarabelot Medeiros ◽  
Jose Nathan Andrade Muller da Silva ◽  
Gabriella Bezerra Cortês Nascimento ◽  
Natália Brandelli Zandoná ◽  
...  

Author(s):  
Yasin Böcü ◽  
Hakan Karabağli ◽  
Mevlüt Özgür Taşkapilioğlu ◽  
Gökhan Ocakoğlu

Author(s):  
Anja Harder

AbstractNon-pathogenic mismatch repair (MMR) gene variants can be associated with decreased MMR capacity in several settings. Due to an increased mutation rate, reduced MMR capacity leads to accumulation of somatic sequence changes in tumour suppressor genes such as in the neurofibromatosis type 1 (NF1) gene. Patients with autosomal dominant NF1 typically develop neurofibromas ranging from single to thousands. Concerning the number of neurofibromas NF1 patients face a situation that is still not predictable. A few studies suggested that germline non-pathogenic MMR gene variants modify the number of neurofibromas in NF1 and by this mechanism may promote the extent of neurofibroma manifestation. This review represents first evidence that specific non-pathogenic single nucleotide variants of MMR genes act as a modifier of neurofibroma manifestation in NF1, highlighting MSH2 re4987188 as the best analysed non-pathogenic variant so far. In summary, besides MSH2 promotor methylation, specific non-pathogenic germline MSH2 variants are associated with the extent of neurofibroma manifestation. Those variants can serve as a biomarker to facilitate better mentoring of NF1 patients at risk.


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