Selected Topics in “Systems Biology and Bioinformatics” - 2019: medical genetics

Medical genetics studies at the SBB-2019 and MGNGS-2019 conferences

Authors: Ancha V. Baranova, Elena Yu. Leberfarb, Georgy S. Lebedev and Yuriy L. Orlov

Genetic polymorphisms of PIP5K2A and course of schizophrenia

Schizophrenia is a severe highly heritable mental disorder. The clinical heterogeneity of schizophrenia is expressed in the difference in the leading symptoms and course of the disease. Identifying the genetic...

Authors: Evgeniya G. Poltavskaya, Olga Yu. Fedorenko, Natalya M. Vyalova, Elena G. Kornetova, Nikolay A. Bokhan, Anton J. M. Loonen and Svetlana A. Ivanova

Understanding the molecular association between hyperkalemia and lung squamous cell carcinomas

Previous studies indicated a strong association between hyperkalemia and lung squamous cell carcinomas (LSCC). However, the underlying mechanism is not fully understood so far.

Authors: Xianping Meng, Hongyan Lu, Xia Jiang, Bin Huang, Song Wu, Guiping Yu and Hongbao Cao

Deep vein thrombosis inhibitor may play a therapeutic role in post-stroke patients

Deep vein thrombosis (DVT) is associated with stroke. Here, we hypothesize that genes associated with DVT may also play roles in the development of stroke.

Authors: Xixi Xiang, Di Yuan, Peiyan Kong, Ting Chen, Han Yao, Shijia Lin, Xi Zhang and Hongbao Cao

Unannotated single nucleotide polymorphisms in the TATA box of erythropoiesis genes show in vitro positive involvements in cognitive and mental disorders

Hemoglobin is a tetramer consisting of two α-chains and two β-chains of globin. Hereditary aberrations in the synthesis of one of the globin chains are at the root of thalassemia, one of the most prevalent mon...

Authors: Mikhail Ponomarenko, Ekaterina Sharypova, Irina Drachkova, Irina Chadaeva, Olga Arkova, Olga Podkolodnaya, Petr Ponomarenko, Nikolay Kolchanov and Ludmila Savinkova

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

Myotonia congenita is a rare neuromuscular disease, which is characterized by a delay in muscle relaxation after evoked or voluntary contraction. Myotonia congenita can be inherited in a dominant (Thomsen dise...

Authors: Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali and Mikhail Skoblov

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report

Hereditary ophthalmic pathology is a genetically heterogeneous group of diseases that occur either as an isolated eye disorder or as a symptom of hereditary syndromes (chromosomal or monogenic). Thus, a diagno...

Authors: Andrey V. Marakhonov, Irina A. Mishina, Vitaly V. Kadyshev, Svetlana A. Repina, Maria F. Shurygina, Olga A. Shchagina, Natalya N. Vasserman, Tatyana A. Vasilyeva, Sergey I. Kutsev and Rena A. Zinchenko