Selected articles from Belyaev Conference 2017: medical genomics

Medical genomics at Belyaev Conference – 2017

Authors: Yuriy L. Orlov, Julio R. Fernandez-Masso, Ming Chen and Ancha V. Baranova

Exome analysis of carotid body tumor

Carotid body tumor (CBT) is a form of head and neck paragangliomas (HNPGLs) arising at the bifurcation of carotid arteries. Paragangliomas are commonly associated with germline and somatic mutations involving ...

Authors: Anastasiya V. Snezhkina, Elena N. Lukyanova, Dmitry V. Kalinin, Anatoly V. Pokrovsky, Alexey A. Dmitriev, Nadezhda V. Koroban, Elena A. Pudova, Maria S. Fedorova, Nadezhda N. Volchenko, Oleg A. Stepanov, Ekaterina A. Zhevelyuk, Sergey L. Kharitonov, Anastasiya V. Lipatova, Ivan S. Abramov, Alexander V. Golovyuk, Yegor E. Yegorov…

Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis

Cystic fibrosis (CF) is one of the most common life-threatening genetic disorders. Around 2000 variants in the CFTR gene have been identified, with some proportion known to be pathogenic and 300 disease-causin...

Authors: Maxim Ivanov, Alina Matsvay, Olga Glazova, Stanislav Krasovskiy, Mariya Usacheva, Elena Amelina, Aleksandr Chernyak, Mikhail Ivanov, Sergey Musienko, Timofey Prodanov, Sergey Kovalenko, Ancha Baranova and Kamil Khafizov

Analysis of microbial sequences in plasma cell-free DNA for early-onset breast cancer patients and healthy females

Cell-free circulating DNA (cfDNA) is becoming a useful biopsy for noninvasive diagnosis of diseases. Microbial sequences in plasma cfDNA may provide important information to improve prognosis and treatment. We...

Authors: Yu-Feng Huang, Yen-Ju Chen, Tan-Chi Fan, Nai-Chuan Chang, Yi-Jie Chen, Mohit K. Midha, Tzu-Han Chen, Hsiao-Hsiang Yang, Yu-Tai Wang, Alice L. Yu and Kuo-Ping Chiu

Computational master-regulator search reveals mTOR and PI3K pathways responsible for low sensitivity of NCI-H292 and A427 lung cancer cell lines to cytotoxic action of p53 activator Nutlin-3

Small molecule Nutlin-3 reactivates p53 in cancer cells by interacting with the complex between p53 and its repressor Mdm-2 and causing an increase in cancer cell apoptosis. Therefore, Nutlin-3 has potent anti...

Authors: Ulyana Boyarskikh, Sergey Pintus, Nikita Mandrik, Daria Stelmashenko, Ilya Kiselev, Ivan Evshin, Ruslan Sharipov, Philip Stegmaier, Fedor Kolpakov, Maxim Filipenko and Alexander Kel

Novel candidate genes important for asthma and hypertension comorbidity revealed from associative gene networks

Hypertension and bronchial asthma are a major issue for people’s health. As of 2014, approximately one billion adults, or ~ 22% of the world population, have had hypertension. As of 2011, 235–330 million peopl...

Authors: Olga V. Saik, Pavel S. Demenkov, Timofey V. Ivanisenko, Elena Yu Bragina, Maxim B. Freidin, Irina A. Goncharova, Victor E. Dosenko, Olga I. Zolotareva, Ralf Hofestaedt, Inna N. Lavrik, Evgeny I. Rogaev and Vladimir A. Ivanisenko

Cumulative prognostic power of laminin genes in colorectal cancer

Laminins are a major family of extracellular matrix proteins and the main component of basement membranes. Laminins are involved in many if not all stages of cancer progression, and expression of laminin genes...

Authors: Vladimir V. Galatenko, Diana V. Maltseva, Alexey V. Galatenko, Sergey Rodin and Alexander G. Tonevitsky

Circadian succession of molecular processes in living tissues

Oscillations of different origin, period and amplitude play an important role in the regulation of cellular processes. Most widely studied is the circadian or approximately daily variation in gene expression a...

Authors: Abeer Fadda, Mohammed El Anbari and Andrey Ptitsyn

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders

Primary microcephaly represents an example of clinically and genetically heterogeneous condition. Here we describe a case of primary microcephaly from the Karachay-Cherkess Republic, which was initially diagno...

Authors: Andrey V. Marakhonov, Fedor A. Konovalov, Amin Kh. Makaov, Tatyana A. Vasilyeva, Vitaly V. Kadyshev, Varvara A. Galkina, Elena L. Dadali, Sergey I. Kutsev and Rena A. Zinchenko