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


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Newborn Screening for Classic Galactosemia: Biochemical Testings, Challenges, and Futureby
![]() ![]() 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 |
An Interview with Dr. Mark StonekingAbstract InterviewAn Interview with Dr. Mark StonekingOBM Genetics Editorial OfficeLIDSEN Publishing Inc., 2000 Auburn Drive, One Chagrin Highlands, Suite 200, Beachwood, OH, USA; E-Mail:
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First Cytogenomic Characterization of the Murine Testicular Tumor Cell Line I-10Abstract 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 |
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 ChildrenAbstract 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 |
Application of the FISH Method for Analyzing Chromosome Segregation Patterns in Preimplantation Embryos from Robertsonian Translocation Carriersby
![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() 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 |
46,XX/46,XY Chimerism & Human Sexual DevelopmentAbstract 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 |
Anti-cancer Drug Susceptibility of Breast Cancer Cells Incubated on Electrospun Polymeric Fiber SubstratesAbstract 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 |
Mechanisms and Approaches for Salt Tolerance in Turmeric: A Breeding Perspectiveby
![]() ![]() 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 |
From Ovarian Development to Folliculogenesis: Essential Networks Sustaining the Ovarian ReserveAbstract 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 |
The Identification 5S nrDNA Unit Classes in Genera of Plants and Selected Non-Vertebrate Animals and Their Potential for the Study of Species RelationshipsAbstract 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 |
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