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Aug 2024 DOI 10.14302/issn.2372-6601.jhor-24-5108
Ansam Zakaria BaniamerCorresponding author
Hereditary thrombotic diseases, or inherited bleeding disorders, are a group of genetic conditions that disrupt normal blood coagulation. These diseases result from mutations in genes encoding blood coagulation factors or other regulatory proteins, impairing the body's ability to regulate bleeding a…
Apr 2021 DOI 10.14302/issn.2692-1537.ijcv-21-3804
Raúl IseaCorresponding author
An algorithm to determine the possible mutations that can occur in the S protein responsible of the Covid-19 in humans is designed. To do that, nine tridimensional sequences available in the Protein Data Bank similar to the initial strain sequenced in Wuhan (December 2019) are identified. The condit…
Jul 2019
Shivaji K JadhavCorresponding author
Co-infection of HIV with Mycobacterium tuberculosis is a common event, particularly in developing countries. The emergence and spread of multidrug resistant tuberculosis (MDR-TB) is an increasing public problem in India. The drug-resistant M. tuberculosis strains are posing a significant challenge t…
Oct 2016 DOI 10.14302/issn.2572-3030.jcgb-16-1276
Takuma HayashiCorresponding author
Human uterine leiomyosarcoma (LMS) is neoplastic malignancy that typically arises in tissues of mesenchymal origin. The identification of novel molecular mechanism leading to human uterine LMS formation and the establishment of new therapies has been hampered by several critical points. We earlier r…
Sep 2026
Yilkal Tariku BelayCorresponding author
Immunoglobulins, commonly known as antibodies, are glycoprotein molecules present on B lymphocytes and within the bloodstream. They are essential components of the immune response, as they detect the harmful molecules of test compounds and stimulate the immune system to manifest proportional counter…
Sep 2024 DOI 10.14302/issn.2690-4721.ijcm-24-5195
Susan Mutile KavaiCorresponding author
The persistence of multidrug-resistant (MDR) Salmonella Typhi (S. Typhi) is a challenge especially in regions where typhoid is endemic. Surveillance of circulating genotypes of MDR S. Typhi is crucial in typhoid acute cases and carriers. This study aimed to investigate genotypic diversity of S. Typh…
Mar 2024 DOI 10.14302/issn.2689-4602.jes-24-4956
B.F. ChadovCorresponding author
A new type of mutations-dominant lethals with a facultative manifestation -were discovered in D. melanogaster in 2000. These mutations were named conditional mutations. Under restrictive genetic conditions, the mutations manifest themselves as dominant lethals, whereas dominant lethality disappears…
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…
Dec 2023 DOI 10.14302/issn.2324-7339.jcrhap-23-4634
Alfred MakuraCorresponding author
Introduction Human Immunodeficiency Virus (HIV) remains a persistent global public health challenge. In 2020, approximately 37.9 million individuals were living with HIV globally, including 1.7 million children <15 years old, with a global HIV prevalence of 0.8% among adults. A larger portion of peo…
Sep 2023 DOI 10.14302/issn.2574-4496.jtc-23-4722
Patrick J. ConwayCorresponding author
Background Patients with distant metastatic Medullary Thyroid Carcinoma (MTC) have an estimated 40% ten-year survival rate. Gain of function mutations in the REarranged during Transfection or RET gene in MTC can result in an aggressive phenotype resistant to traditional therapy. In this case report,…
Aug 2023
Bayan AlmabadiCorresponding author
DADA2 (deficiency of adenosine deaminase type 2) is an autoinflammatory autosomal recessive disease resulting from biallelic loss of function mutations in ADA2 gene. Clinical presentation and age of onset vary widely even among related patients, and variability of symptoms and severity manifestation…
Jun 2022 DOI 10.14302/issn.2470-5020.jnrt-22-4217
Jeffrey O. HendersonCorresponding author
Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by mutations in the HEXA gene, which encodes the ɑ subunit of the enzyme β-hexosaminidase A. Lacking this key enzyme in GM2 ganglioside catabolism, individuals who are homozygous for HEXA mutations suffer from abnormal accumulation…
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…
May 2021 DOI 10.14302/issn.2690-4721.ijcm-21-3835
Milagrosa MontesCorresponding author
Objective Real-time surveillance of SARS-CoV-2 variants of concern (VOC) is of essential public health importance. Rapid Antigen Detection Tests (RAgDT) have become first-line COVID-19 diagnostic methods in many regions, but this strategy can hamper the surveillance of the virus variants due to thei…
May 2021 DOI 10.14302/issn.2689-4602.jes-21-3837
Jeffrey O. HendersonCorresponding author
The coronavirus infectious disease (20)19 (COVID-19) pandemic is caused by a newly identified virus (2019) SARS-CoV-2, a beta coronavirus that shares similarities with other human-infecting coronaviruses. Genomic analysis suggests that SARS-CoV-2 is closely related to SARS-CoV, a bat-related coronav…
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 2020 DOI 10.14302/issn.2690-4837.ijip-20-3176
Anubha BajajCorresponding author
Multiple endocrine neoplasia type 1 (MEN1) is a syndrome emerging from characteristic mutations of MEN1 gene with concurrently enunciated multiple endocrine and tumours and associated non-endocrine neoplasm. Previously designated as Werner’s syndrome, MEN1 syndrome denominates genomic mutation wit…
Oct 2019 DOI 10.14302/issn.2372-6601.jhor-19-2986
Isolde RiedeCorresponding author
With the definition of four gene classes, all differences between tumor cells and normal cells can be explained. Proliferative mutations induce a shortcut, forcing the cell to divide. They allow replication without control, induce somatic pairing defects of chromosomes and genome instability. Intact…
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…
Sep 2018 DOI 10.14302/issn.2641-9467.jgrc-18-2270
Yuan LiCorresponding author
Rice, as one of the most important crops in the world, is facing an ever-accelerating challenge from climate change. Epigenetic modification with its substantially high epimutation rate and the possibility for some epigenetic variation to act as a heritable contributor to crop environmental adaptabi…