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Journal of Human Genetics and Genomic Medicine (JHGGM) is peer-reviewed, open access multidisciplinary journal dedicated to publishing novel and significant research articles with relevant topics in the field of Human Genetics and Genomic Medicine. We accept manuscript submissions from basic and clinical researchers, scholars, in the related fields are encouraged them to publish their work in the journal.
RECENT ARTICLES
Pleckstrin homology mutation in ever genes may cause skin cancer
EVER genes belong to a completely unique gene family, the trans membrane channel-like (TMC) family, and are responsible for properly functioning zinc homeostasis. Mutations in two homologous genes, EVER1 and EVER2 increase the susceptibleness to infe...
A Journey from Genes to Gene Families and on to the Whole Genome
Life sciences are coming back once again to dominate world wealth creation by harnessing the power of the ever-surprising scientific and technological breakthroughs. I have witnessed and participated in some of the most extraordinary ones: molecular ...
The Association between the Methyltransferase DNMT3A and Cancer
Cancer initiation and progression is controlled by both genetic and epigenetic events; DNA methylation alteration is one of the critical events for malignant cellular transformation. Aberrant in DNA methyltransferases (DNMTs) mainly mutations in the ...
The Hepatoprotective Properties of Methanolic Extract of Garcinia Kola Administration on Azathioprine-Induced Liver Toxicity of Adult Sprague-Dawley Rats
Despite the prevalent clinical use of Azathioprine in the treatment of disease, serious toxic side effects comprising the liver toxicity undermines its therapeutic efficacy. This, study explored the possible hepatoprotective properties of methanolic ...
Genetic Association between HERV-H LTR Associating 2 (HHLA2) Protein and MAGE-B5 Variant in Viral Related Diseases
Genetic Association between the gamma retrovirus HERV-H Long Terminal Associating (HHLA1, HHLA2 and HHLA3) proteins and its association with melanoma associated antigen of the B class proteins (MAGEB5) has not been documented in various viral diseas...
A Rare Case of Albright’s Hereditary Osteodystrophy Presenting as Recurrent Hypocalcemic Tetany
An internist with an eagle’s eye can diagnose many hidden diseases through careful examination. One such hereditary metabolic disorder is Albright’s Hereditary Osteodystrophy (AHO). Characteristic presentations in an individual affected by AHO we...
Genetic Screening of Newborns in Baku for Hereditary Hemoglobinopathies
Hereditary hemoglobinopathies are included in a group of blood diseases called hemolytic anemias and this is a group of diseases of the hemoglobin of human erythrocytes. In the general case of hemoglobinopathies - the synthesis of abnormal hemoglobin...
A Novel Mutation in ABCC6 Gene found in PXE Patient with Phenotypic Variance
Pseudoxanthoma Elasticum (PXE) is a rare disorder characterized by an accumulation of calcium deposits and mineralization of elastic fibers. The progressive mineralization and fragmentation of elastic fibers can affect a variety of organ systems incl...
