Sun Safety Struggles Among Children with Xeroderma Pigmentosum in a Tropical Low-Income CountryAbstract Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by increased sensitivity to ultraviolet radiation, leading to severe skin manifestations and a higher risk of early-onset malignancies. Previous studies from temperate climate countries with sound economic levels showed adequate photo [...] 20 109 |
Newborn Screening for Neuromuscular Disorders, Disorders of Glycogen Metabolism, and Fatty Acid OxidationAbstract Newborn screening for neuromuscular disorders and glycogen or fatty acid oxidation disorders aims to identify infants at risk for these conditions, allowing for early intervention and management. While not all neuromuscular disorders currently have established newborn screening programs, there are v [...] 28 161 |
A Comprehensive in Silico Analysis of the Functional and Structural Consequences of the Deleterious Missense Nonsynonymous SNPs in Human GABRA6 GeneAbstract Epilepsy, a prevalent neurological disorder, affects more than 50 million individuals worldwide and is characterized by recurring seizures. Nonsynonymous single nucleotide polymorphisms (nsSNPs) found within coding regions of epilepsy-related genes are believed to have significant impact [...] 54 311 |
Chest CT Scan Features of COVID-19 in a Hospitalized High-Altitude PopulationAbstract There is a lack of knowledge regarding the type of lung compromise in high-altitude residents with COVID-19. This study aims to evaluate the lung compromise in chest CT scans of high-altitude dwellers hospitalized with COVID-19. Retrospective study that took place in "Daniel Alcides Carrión&quo [...] 63 358 |
Allelic Variation of High-Molecular-Weight Glutenin Genes in Triticum Species and Triticale (× Triticosecale Wittmack)by
Penko Spetsov
and
Nadia Daskalova
Abstract High-molecular-weight glutenin subunits (HMW-GS) encoded by alleles at the Glu-A1, Glu-B1, and Glu-D1 loci confer unique bread-making properties of common wheat (Triticum aestivum L.). The identification [...] 62 393 |
Book Review: Small Supernumerary Marker Chromosomes. BasicsAbstract This review provides a critical assessment of the content and structure of the recently published book by Dr. Thomas Liehr, 'Small Supernumerary Marker Chromosomes: Basics.' 64 384 |
X Ray-Induced Insulinoma Cell Line Rin-5F Has a Novel Mutation Site, C.A1459G (P.T487A), in Death Domain Associated Protein (DAXX) GeneAbstract A popular toxicological and pharmacological research cell line is the insulin-secreting pancreatic cell line Rin-5F. The cell line originates from insulinomas induced by X-ray exposure. The author of this report looked at the mutation status of the DAXX gene in the Rin-5F cell line clone.& [...] 79 539 |
Preimplantation Genetic Testing: Personal Views Regarding the Invasiveness of Trophectoderm Biopsy and Risks on Embryos Development “An Operators Survey”Abstract This study aims to assess the Trophectoderm (TE) biopsy practice in Jordan in terms of the following effectiveness parameters: timing of zona breaching, risk of inner cell mass herniation if zona breaching was done on day 3, timing of TE sampling, method of biopsy (pulling or flicking), [...] 113 971 |
A Review on Male Infertility and Herbal Medicine: Complementary and Alternative Therapies in Animal ModelsAbstract Various factors contributing to male infertility include genetic determinants, hormonal/neurological imbalance, erectile/libido disorders, genital tract injuries, and toxic/ischemic testicular injuries. Herbs increase sperm count and quality parameters, as well as sexual performance in infertile men [...] 102 824 |
Mosaic Potocki-Lupski Syndrome Due to a Supernumerary Marker Chromosome Containing RAI1Abstract Potocki-Lupski syndrome (PTLS) is a recurrent microduplication syndrome characterized by developmental delay, behavioral abnormalities, mildly dysmorphic facial features, hypotonia, and sleep disorders. We report here a 3-year-old girl diagnosed with mosaic PTLS harborin [...] 107 702 |
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