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Open Access Review

Newborn Screening for Classic Galactosemia: Biochemical Testings, Challenges, and Future

Xinying Hong and

Miao He

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

Abstract

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 [...]

59 469

Open Access Interview

An Interview with Dr. Mark Stoneking

OBM Genetics Editorial Office

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

Abstract

InterviewAn Interview with Dr. Mark StonekingOBM Genetics Editorial OfficeLIDSEN Publishing Inc., 2000 Auburn Drive, One Chagrin Highlands, Suite 200, Beachwood, OH, USA; E-Mail: 54 666

Open Access Original Research

First Cytogenomic Characterization of the Murine Testicular Tumor Cell Line I-10

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

Abstract

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 [...]

91 816

Open Access Research Article

Molecular Genetic Study on VNTR-polymorphism of Two Cytokine Genes Antagonist of the Receptor of Interleukin 1 (rs2234663) and Interleukin 4 (rs8179190) Associated with Dental Caries in Children

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

Abstract

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 [...]

88 1061

Open Access Original Research

Application of the FISH Method for Analyzing Chromosome Segregation Patterns in Preimplantation Embryos from Robertsonian Translocation Carriers

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

Abstract

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 [...]

114 934

Open Access Review

46,XX/46,XY Chimerism & Human Sexual Development

Jason Tate ,

Bruce O'Hara and

Sainan Wei

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

Abstract

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 [...]

116 1245

Open Access Original Research

Anti-cancer Drug Susceptibility of Breast Cancer Cells Incubated on Electrospun Polymeric Fiber Substrates

Rie Sasaki ,

Hiroto Ito and

Masami Okamoto

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

Abstract

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 [...]

85 881

Open Access Review

Mechanisms and Approaches for Salt Tolerance in Turmeric: A Breeding Perspective

Arpitha Bandi and

Prashant Kaushik

Received: 22 March 2022; Published: 23 May 2022; doi: 10.21926/obm.genet.2202154

Abstract

India is home to several medicinal herbs including turmeric. Turmeric is one of the major produces of India, primarily due to its unique and valuable medicinal and therapeutic properties. However, the growth and yield of turmeric are greatly affected by salt stress in certain parts of the country, e [...]

125 1407

Open Access Review

From Ovarian Development to Folliculogenesis: Essential Networks Sustaining the Ovarian Reserve

Florence Naillat

Received: 25 August 2021; Published: 26 April 2022; doi: 10.21926/obm.genet.2202153

Abstract

In the last four decades, transgenic and knockout mouse models have helped to understand the mechanisms of mammalian sex determination, germ cell development, and adult gonad functions. We have gained crucial insights into molecular factors and pathways of the cells generating either the supporting [...]

134 1377

Open Access Original Research

The Identification 5S nrDNA Unit Classes in Genera of Plants and Selected Non-Vertebrate Animals and Their Potential for the Study of Species Relationships

Bernard R. Baum and

Douglas A. Johnson

Received: 07 January 2022; Published: 24 April 2022; doi: 10.21926/obm.genet.2202152

Abstract

We have investigated the utility of the 5S nrDNA, a conserved, multicopy gene family organized into tandem repeats as a tool for genetic analyses in a wide variety of genera. Previous work in the Triticeae (Poaceae) demonstrated that the prior identification of unit classes based upon the 5S nrDNA N [...]

137 1332