Edited by Yuriy Orlov, Ancha Baranova and Tatiana Tatarinova.
Volume 21 Supplement 1
Selected Topics in “Systems Biology and Bioinformatics” - 2019: medical genetics
Publication of this supplement has not been supported by sponsorship. Information about the source of funding for publication charges can be found in the individual articles. The articles have undergone the journal's standard peer review process for supplements. The Supplement Editors were not involved in the review of any articles they co-authored. No other competing interests were declared.
Novosibirsk, Russia24-28 June 2019
Citation: BMC Medical Genetics 2020 21(Suppl 1):186
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...Citation: BMC Medical Genetics 2020 21(Suppl 1):171
Previous studies indicated a strong association between hyperkalemia and lung squamous cell carcinomas (LSCC). However, the underlying mechanism is not fully understood so far.Citation: BMC Medical Genetics 2020 21(Suppl 1):176
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.Citation: BMC Medical Genetics 2020 21(Suppl 1):174
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...Citation: BMC Medical Genetics 2020 21(Suppl 1):165
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...Citation: BMC Medical Genetics 2020 21(Suppl 1):197
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...Citation: BMC Medical Genetics 2020 21(Suppl 1):156