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Nov 2024 DOI 10.14302/issn.2690-4829.jen-24-5291
Xiaotang WangCorresponding author
The perpendicular orientation of the proximal alpha helix to the heme plane in chloroperoxidase (CPO) maximizes the influence of its intrinsic helix dipole that has been shown to reduce the “push-effect”, thereby increasing the heme redox potential and fine-tuning the catalytic capabilities of CPO.…
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…
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…
Apr 2023 DOI 10.14302/issn.2372-6601.jhor-23-4530
Essohana PadaroCorresponding author
Objective Drawing up a balance sheet of 16 years follow-up of the sole case of Diamond-Blackfan anemia diagnosed in Togo with arguments of molecular biology. Observation T.S a boy, born on 5th september 2006 has been followed up since he was three months, for Diamond-Blackfan anemia (DBA) in whom th…
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…
Aug 2021 DOI 10.14302/issn.2641-5518.jcci-21-3914
Li YangCorresponding author
A patient with Carney complex is reported with a previously undescribed PRKAR1A mutation. The article situates the variant within PKA pathway biology and clinical phenotype, underscoring the value of genetic testing for diagnosis, counseling, and surveillance.
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…
Jul 2019 DOI 10.14302/issn.2694-1198.jge-19-2756
A.N. VolobuevCorresponding author
Processes of genetic-mathematical modeling of a population development are considered. A basic distinction in the mathematical description of a family tree and a population is shown. In a family tree alternation of generations has discrete character. In a population there is a continuous alternation…
Jul 2019 DOI 10.14302/issn.2689-5773.jcdp-19-2890
Anubha BajajCorresponding author
Initially described by Pinkus and Mehregan in 1963 as an epidermotropic eccrine carcinoma, eccrine porocarcinoma cogitates an exceptional sweat gland malignancy. Eccrine porocarcinoma was adapted as a nomenclature by Mishisma and Morikoin in 1969. The neoplasm is a malignant analogue of eccrine por…
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…
Aug 2017 DOI 10.14302/issn.2470-0436.jos-17-1721
Damien C. RodgerCorresponding author
A 57-year-old Hispanic female presented with 3 days of blurry vision in the left eye. Eight years prior, she had a branch retinal artery occlusion in the right eye and a hematologic work-up revealed a 4G/4G polymorphism in plasminogen activator inhibitor-1. With the current episode, she was found to…
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…
Jun 2016 DOI 10.14302/issn.2470-5020.jnrt-16-993
Karin Jurkat-RottCorresponding author
Autosomal dominant inherited hypokalemic periodic paralysis (HypoPP) is caused by S4 voltage sensor mutations in skeletal muscle CaV1.1 calcium or NaV1.4 sodium channels. In the present study, a small German family with the known CaV1.1-R528G is described. The phenotype consists of short and infrequ…
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…
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…
Feb 2026 DOI 10.14302/issn.2689-4602.jes-25-5926
Chuck EasttomCorresponding author
The impact of ionizing radiation on genetic change is well established, yet the extent to which naturally occurring radiation fields have influenced evolutionary trajectories remains incompletely understood. This study examined correlations between microbial evolution and the radiation and geochemic…
Oct 2025 DOI 10.14302/issn.3070-2313.jeh-25-5757
David P. AustinCorresponding author
The Ames dwarf mice have a recessive mutation of the PROP-1 gene that produces hereditary dwarfism. The abnormality is responsible for an anterior-pituitary deficiency that results in a substantial reduction of growth hormone, thyroid-stimulating hormone, and prolactin. These mice are smaller in siz…
Sep 2024 DOI 10.14302/issn.2689-4602.jes-24-5245
Hunar SanghaniCorresponding author
Charles Darwin's exploration of the Galápagos Islands in 1835 and his subsequent formulation of the theory of evolution in 1839 were significantly influenced by his observations of land-birds, including finches, larks, owls, and mockingthrushes. Despite a primary focus on geology during his voyage o…
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…