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Dec 2023 DOI 10.14302/issn.3070-1937.ijbt-23-4714
Ahmed M. GajiCorresponding author
Background and Objectives Duffy (FY) blood group system is implicated in transfusion incompatibilities and haemolytic disease of the foetus and newborn (HDFN). The primary objective was to determine the Duffy phenotype among indigenous pregnant women in Gombe, Gombe State, Nigeria. Materials and Met…
Jul 2020 DOI 10.14302/issn.2379-7835.ijn-20-3463
Daniel LemogoumCorresponding author
Background Evidence suggests that low birth weight (LBW) is associated with increased cardiovascular and metabolic risk in adulthood, including increased arterial stiffness, a marker of early vascular aging (EVA) assessable by pulse wave velocity (PWV), obesity and glucose homeostasis abnormalities.…
Aug 2018
M. Sh. BadawyCorresponding author
Background: Co-morbidities are associated with increasing risk of mortality, hospitalizations and costs of treatment in Chronic Obstructive Pulmonary Disease patients. Identification of Co- morbidities related to COPD phenotypes may guide individualized therapies and achieve better prognosis. Method…
Dec 2017 DOI 10.14302/issn.2576-6694.jbbs-17-1869
Rita de Cassia StoccoCorresponding author
Introduction Bovine papillomavirus (BPV) is the etiological agent of bovine papillomatosis, infectious and neoplastic disease, characterized by the presence of multiple papillomas that can regress spontaneously or to persist and progress to malignancies when in association with environmental cofacto…
Jun 2015 DOI 10.14302/issn.2379-7835.ijn-14-591
Rossella NegriCorresponding author
Objectives Taste sensitivity is an important determinant of food choice and differs between children and adults. This difference is probably due to several factors that constitute an individual’s phenotype. The aim of this study was to explore taste perception in relation to the TAS2R38 and CAVI (gu…
Sep 2026 DOI 10.14302/issn.2638-4469.japb-26-6401
Luigi d’AquinoCorresponding author
The emission of completely developed secondary fronds from pinnae tips is described for the first time in a fern belonging to the species Nephrolepis cordifolia. The phenotype described in the paper has so far been reported very rarely and only in other Nephrolepisspecies. The phenotype demonstrates…
Mar 2026 DOI 10.14302/issn.2641-9181.ijnr-25-5844
Michael TraunerCorresponding author
A sequence variation (I148M) in the patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene has been linked to metabolic dysfunction-associated steatotic liver disease (MASLD) and the progression of MASLD and other chronic liver diseases towards fibrosis and cancer. To elucidate the rol…
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…
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…
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…
Sep 2022 DOI 10.14302/issn.2641-4538.jphi-22-4238
Sevim BavbekCorresponding author
The safety of cyclooxygenase (COX)-2 inhibitors has been tested in patients who had cross-reactive hypersensitivity reactions (HSRs) to nonsteroidal anti-inflammatory drugs (NSAIDs). However, these studies have been mainly done before the current classification of NSAID hypersensitivity and cross-re…
Oct 2021 DOI 10.14302/issn.2639-3166.jar-21-3952
Prem NarainCorresponding author
This methods‑focused review addresses missing heritability and co‑heritability in genomic studies, considering polygenicity, rare variants, gene–gene and gene–environment interactions, and phenotype definition. It surveys analytical strategies—from improved GWAS modeling to partitioning heritability…
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.
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…
May 2020 DOI 10.14302/issn.2692-1537.ijcv-20-3357
Igor KlepikovCorresponding author
This perspective calls for cross‑disciplinary brainstorming on novel COVID‑19 pneumonia phenotypes. It discusses hypotheses on immune dysregulation, microvascular injury, and tailored respiratory strategies.
Dec 2019 DOI 10.14302/issn.2639-3166.jar-19-3116
Giorgio MasoeroCorresponding author
Foliar pH is a specific multifaceted parameter that is sensitive to a deficit in soil water and to temperature variations. It also represents a tool that can be used to rapidly phenotype the symbiosis induced in several crops by bio-fertilizers containing Arbuscular Mycorrhizal Fungi. Yearly decreas…
Nov 2019 DOI 10.14302/issn.2639-3166.jar-19-3089
Giorgio MasoeroCorresponding author
The agronomic management of symbiotic (S) inoculations, by means of bio-fertilizers (BF), is aimed at inducing modifications of the plant rhizosphere and thereafter of the phenotype and yield of the crop. It is here shown that the yield response of maize to a symbiotic treatment may be correlated to…
Sep 2019 DOI 10.14302/issn.2572-5424.jgm-19-3024
Sikandar Hayat KhanCorresponding author
Background The objective of this review is to unify the various genetic defects along with elaborating metabolic pathways in Familial Combined Hyperlipidemia(FCHL) and also to differentiate the phenotype of FCHL from metabolic syndrome. Methods PubMed and Cochrane’s library was searched for keyword…
May 2019 DOI 10.14302/issn.2639-3166.jar-19-2780
Giorgio MasoeroCorresponding author
The inoculation of soil with a bio-fertilizer (BF), with arbuscular mycorrhiza fungi, characterizes a Symbiotic (S) agriculture mode, aimed at promoting the yield and health of crops through modifications in the rhizosphere as well as in the plant phenotype. The main objective of this study was to r…