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Feb 2026 DOI 10.14302/issn.2372-6601.jhor-25-5944
Mikhail Y. BerezinCorresponding author
Background Oxaliplatin, a widely used chemotherapeutic agent, is associated with hematologic toxicities such as anemia, leukopenia, and thrombocytopenia. Despite their clinical relevance, the molecular mechanisms underlying lineage-specific bone marrow suppression remain poorly understood. Methods W…
Feb 2024
Shaile BandlaCorresponding author
Background Junctional epidermolysis bullosa (JEB) is a type of Epidermolysis Bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. It is categorized into: the Herlitz type and the Non-Herlitz type. JEB is inherited in an autosomal recessive pattern. Mos…
Mar 2022
Gudisa BeredaCorresponding author
Dolutegravir suppresses this integration enzyme, so human immune virus can’t create every greater copies of itself, thus ‘’integrase inhibitor.’’ Dolutegravir is hastily absorbed pursuing oral administration. The median maximum plasma concentration is reached 1.5–2.5 hours after oral uptake with a m…
Mar 2022 DOI 10.14302/issn.2572-3030.jcgb-22-4121
Pierre Diaga SARRCorresponding author
Laboratory of Clinical Cytology, Cytogenetics and Reproduction Biology, Aristide Le Dantec Hospital, Dakar-Senegal
Introduction Genomic mutations in TP53 gene in association with etiological risk factors have been associated with oral carcinogenesis. Herein, we screened for genomic variants of TP53 predisposing to oral cancers in Senegalese patients. Methodology 88 patients with confirmed diagnostic were recruit…
Jul 2020 DOI 10.14302/issn.2576-6694.jbbs-20-3450
Magdy M. MahmoudCorresponding author
Background Hyperphenylalaninemia (HPA) combined with neurological signs due to impaired catecholamine, dopamine and serotonin synthesis. Symptoms may appears in first week of life but most seen in age of 4 months. Atypical PKU disease caused mainly by deficiency in 6-pyruvoyltetrahydropterin synthas…
Feb 2019 DOI 10.14302/issn.2689-4602.jes-18-2431
Boris F ChadovCorresponding author
The existing hypotheses on speciation rely on Mendelian genes and mutations in them. However, genome-wide sequencing demonstrates that the Mendelian genes account less than one-tenth of the entire genome DNA. This means that a greater part of the genome has not yet been subject to large-scale evolut…
Feb 2019 DOI 10.14302/issn.2572-3030.jcgb-19-2581
Ashraf KhanCorresponding author
We report the case of a 75 year-old female with past history of ampullary adenocarcinoma presenting with a rapidly enlarging breast mass, initially misclassified on fine needle aspiration as a probable sarcoma, which was ultimately diagnosed as melanoma on resection in the absence of a known cutaneo…
Feb 2019 DOI 10.14302/issn.2471-7061.jcrc-18-2526
Farid E. AhmedCorresponding author
There is currently no validated micro(mi)RNA diagnostic stool test to screen for colon cancer (CC) on the market because of the complexity of fecal density, vulnerability of stool to daily changes, and the presence of three sources of miRNAs in stool (cell-free from fecal homogenates, exsosomal miRN…
Jun 2017 DOI 10.14302/issn.2576-9359.jot-17-1603
Carlotta CapraraCorresponding author
Single-nucleotide polymorphisms (SNPs) in genes involved in immune responses and in the pharmacokinetics/pharmacodynamics of immunosuppressive drugs influence transplant outcomes of patients receiving the same immunosuppressive therapy. The aim of our preliminary study was to determine the SNPs prof…
Jan 2016 DOI 10.14302/issn.2574-4372.jesr-15-768
James E. TroskoCorresponding author
The human OCT4 gene encodes a transcription factor that maintains pluripotency and self-renewal in Embryonic Stem (ES) cells. This gene generates several known transcripts by alternative promoter and alternative splicing (OCT4A, OCT4B and OCT4B1). Even though OCT4A is the main isoform responsible fo…
Jun 2015 DOI 10.14302/issn.2470-0436.jos-14-528
Sanjay SrinivasanCorresponding author
Ophthalmology and Visual Sciences, Khoo Teck Puat Hospital, Singapore
A previously healthy 25 year old Chinese male presented with left eye blurring of vision and was diagnosed to have left eye branch retinal vein occlusion. Initial blood investigations and thrombophilia screen were negative. The patient subsequently improved with observation and conservative manageme…