by Anna Pendina  , Mikhail Krapivin  , Irina Mekina  , Irina Aleksandrova  , Yanina Sagurova  , Evgeniia Komarova  , Mariia Ishchuk  , Andrei Tikhonov  , Olesya Bespalova  , Alexander Gzgzyan  , Igor Kogan  and Olga Efimova

Received: 13 May 2022;  Published: 23 September 2022;  doi: 10.21926/obm.genet.2203164

by Eduardo Garrido  , Javier Botella de Maglia  , Oriol Sibila  and Gustavo Zubieta-Calleja

Received: 18 July 2022;  Published: 09 September 2022;  doi: 10.21926/obm.genet.2203163

by Natalia V. Kovaleva  and Philip D. Cotter

Received: 02 May 2022;  Published: 05 September 2022;  doi: 10.21926/obm.genet.2203162

Mosaicism for trisomy of chromosome 14 (T14) is a very rare chromosomal disease in liveborn patients. Since the 1970s, when the first patients with mosaicism for T14 were reported, a number of studies on the clinical manifestations of this abnormality have been published. No information on epidemiol [...]

by Xinying Hong  and Miao He

Received: 04 May 2022;  Published: 02 August 2022;  doi: 10.21926/obm.genet.2203161

Galactosemia is a group of hereditary disorders of galactose metabolism. Newborn screening for galactosemia type I is mandatory in all states in the US since timely intervention can prevent life-threatening sequela. The biochemical basis, clinical presentation, and potential treatment options for di [...]

by OBM Genetics Editorial Office

Received: 07 July 2022;  Published: 13 July 2022;  doi: 10.21926/obm.genet.2203160

by Shaymaa Azawi  , Lisa-Marie Barf  , Thomas Liehr  , Stefanie Kankel  and Martina Rincic

Received: 25 March 2022;  Published: 27 June 2022;  doi: 10.21926/obm.genet.2202159

After being established in 1967, the commercially available murine Leydig cell tumor line I-10 has been used in almost 50 published studies. I-10 has not been characterized, either at the chromosomal/ cytogenetic level or the genetic level, similar to many other murine tumor cell lines. In this stud [...]

by Irina Udina  , Yurii Vasiliev  , Vladimir Volobuyev  , Olga Gulenko  and Alesya Gracheva

Received: 24 December 2021;  Published: 27 June 2022;  doi: 10.21926/obm.genet.2202158

In this study, we investigated VNTR polymorphisms in intron 2 of the IL1RN gene (rs2234663) and intron 3 of the IL4 gene (rs8179190) related to the development of caries in school children (N = 196) with mixed bite dentition from Krasnod [...]

by Irina Puppo  , Ziravard Tonyan  , Alisa Panina  , Ksenia Shunkina  , Alsu Saifitdinova  , Yulia Loginova  , Anna Kinunen  , Julia Pastuhova  , Olga Leonteva  , Olga Chiryaeva  , Olga Маlysheva  , Elena Fedorova  , Tatyana Vavilova  and Natalia Bichevaya

Received: 28 March 2022;  Published: 22 June 2022;  doi: 10.21926/obm.genet.2202157

Robertsonian translocations (RTs) are very common balanced structural chromosome rearrangements in humans. Due to alterations in the chromosome segregation pattern and the formation of unbalanced gametes and embryos, the carriers of RTs have a significant risk of reproductive failure. For over 30 ye [...]

by Jason Tate  , Bruce O'Hara  and Sainan Wei

Received: 23 April 2022;  Published: 15 June 2022;  doi: 10.21926/obm.genet.2202156

The term chimera refers to an organism with cell lines from two or more distinct zygotes. Human chimerism may occur naturally or artificially. Although rare, advancements in genetics and genomics have resulted in the identification of additional natural human chimeras. Three forms of naturally occur [...]

by Rie Sasaki  , Hiroto Ito  and Masami Okamoto

Received: 01 March 2022;  Published: 14 June 2022;  doi: 10.21926/obm.genet.2202155

In this study, we examined the effect of a combination of surface topographies (fiber alignments) and different stiffness of poly(L-lactic acid) (PLLA) substrates on the direct relationship between anti-cancer drug (CDDP) sensitivity for MDA-MB-231 cells and mesenchymal properties under both normal [...]