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Genomic susceptibility to gastric cancer in Northwest Iran: population-based and case–control studies Egypt. J. Med. Hum. Genet. Pub Date : 2024-03-27 Homa Akhavan Aghghaleh, Najmeh Ranji, Hadi Habibollahi
The age-standardized incidence rate for gastric cancer is estimated to be 11.1% worldwide and 39.1% for Ardabil province in northwest Iran. Single nucleotide polymorphisms (SNPs) occur in coding and non-coding regions, contributing to cancer susceptibility. To identify SNPs predisposing individuals to gastric cancer in this region, we compared 263 variants between the Ardabil population and other populations
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Mowat-Wilson syndrome: unraveling the complexities of diagnosis, treatment, and symptom management Egypt. J. Med. Hum. Genet. Pub Date : 2024-03-27 Yalda Zhoulideh, Jamil Joolideh
Mowat-Wilson syndrome can be mentioned as one of the most severe and, at the same time, rare genetic abnormalities. The inheritance pattern of this disorder is an autosomal dominant pattern. In this disease, the ZEB2 gene becomes abnormal. The severity of the disease and associated signs and symptoms can vary widely but may include distinct facial features, developmental delay, intellectual disability
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Potential biomarker signatures in male infertility: integrative genomic analysis Egypt. J. Med. Hum. Genet. Pub Date : 2024-03-26 Devalina Junahar, Rinesia Dwiputri, Wirawan Adikusuma, Darmawi Darmawi, Afdal Afdal, Lalu Muhammad Irham, Suyanto Suyanto
Studies have attributed 50% of infertility cases to male infertility, 15% of which is caused by idiopathic genetic factors. Currently, no specific biomarkers have been revealed for male infertility. Furthermore, research on genetic factors causing male infertility is still limited. As with other multifactorial genetic disorders, numerous risk loci for male infertility have been identified by genome-wide
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The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus Egypt. J. Med. Hum. Genet. Pub Date : 2024-03-26 Masoud Sabzeghabaiean, Mohsen Maleknia, Javad Mohammadi-Asl, Hashem Kazemi, Fereshteh Golab, Zohreh Zargar, Maryam Naseroleslami
Hydrocephalus is one of the most common pathophysiological disabilities with a high mortality rate, which occurs both congenitally and acquired. It is estimated that genetic components are the etiology for up to 40% of hydrocephalus cases; however, causal mutations identified until now could only explain approximately 20% of congenital hydrocephalus (CH) patients, and most potential hydrocephalus-associated
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Conventional and molecular cytogenetic characterization of a Moroccan patient with WAGR syndrome Egypt. J. Med. Hum. Genet. Pub Date : 2024-03-23 Faiza Chbel, Hasna Hamdaoui, Houssein Mossafa, Karim Ouldim, Houda Benrahma
WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p13 and is usually clinically associated with Wilms’ tumor, aniridia, genitourinary anomalies, and mental retardation (W-A-G-R). Although the genotypic defects in WAGR syndrome have been well established. The congenital aniridia is caused, in nearly 90% of cases by mutations in the gene PAX6. In the face of congenital
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Low heterozygosity for rs3811050, a 5 prime untranslated region variant of the gene encoding interleukin-38 (IL1F10), is associated with a reduced risk of systemic lupus erythematosus Egypt. J. Med. Hum. Genet. Pub Date : 2024-03-21 Rawan A. Nijeeb, Adnan A. Aljber, Ali H. Ad’hiah
Interleukin-38 (IL-38), an inflammatory cytokine discovered in recent years, has been implicated in the pathogenesis of systemic lupus erythematosus (SLE). IL-38 is encoded by the IL1F10 (interleukin 1 family member 10) gene. Genetic variants of this gene have been associated with susceptibility to a number of autoimmune and inflammatory diseases, while their association with SLE risk has not been
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Germline variants in the Von Hippel-Lindau tumor suppressor gene in Cuban patients Egypt. J. Med. Hum. Genet. Pub Date : 2024-03-20 Antonio Alejandro Esperón Álvarez, Inés Virginia Noa Hechavarría, Ixchel López Reyes, Teresa Collazo Mesa
Von Hippel-Lindau (VHL) syndrome is an autosomal dominantly inherited disorder that predisposes to multiple neoplasms. Patients may develop hemangioblastomas of the central nervous system and retina, multiple cysts in the pancreas and kidneys, renal carcinoma, and pheochromocytomas, among other lesions. This disease is caused by germline genetic variants in the VHL gene. The regulation of the alpha
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Exploring the interplay of MTHFR and FGG polymorphisms with serum levels of adiponectin and leptin in pediatric lupus nephritis: a pilot study Egypt. J. Med. Hum. Genet. Pub Date : 2024-03-14 Gloria Garavito De Egea, Alex Domínguez-Vargas, Luis Fang, Nicole Pereira-Sanandrés, Jonathan Rodríguez, Gustavo Aroca-Martinez, Zilac Espítatela, Clara Malagón, Antonio Iglesias-Gamarra, Ana Moreno-Woo, Guillermo López-Lluch, Eduardo Egea
Adiponectin and leptin are pivotal in the regulation of metabolism. Pediatric lupus nephritis (pLN), a manifestation of childhood systemic lupus erythematosus (SLE) affecting the kidneys, is associated with impaired adipokine levels, suggesting a role in pLN pathogenesis. The aim of this study was to explore the potential relationship between specific single-nucleotide polymorphisms (SNPs)—methylenetetrahydrofolate
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Genetic factors and the role of pancreatic amylase in the pathogenesis of type 2 diabetes Egypt. J. Med. Hum. Genet. Pub Date : 2024-03-13 Mutiat A. Abdulkareem, Bunmi A. Owolabi, Emmanuel S. Saheed, Remilekun F. Aromolaran, Rukayat M. Bashiru, Toheeb A. Jumah, Doris U. Chijioke, Onyinyechi J. Amaechi, Fehintoluwa C. Adeleke, Omiyale O. Charles, Tunde S. Oluokun
This review article gives an insight into the genetic factors and the role of pancreatic amylase in type 2 diabetes (T2D). Diabetes is a non-communicable, multifactorial, heritable, complex, and irreversible disease of public health burden with a global prevalence rate of 6.28%, about 6% in sub-Saharan Africa, and 1.7% in Nigeria. T2D is recognized as the ninth leading cause of mortality worldwide
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Analysis of the CYP21A2 gene pathogenic variants in CAH patients from Surgut using next-generation sequencing (NGS) Egypt. J. Med. Hum. Genet. Pub Date : 2024-03-12 Natalia Osinovskaya, Elena Vashukova, Olga Tarasenko, Maria Danilova, Olga Glavnova, Iskender Sultanov, Maxim Donnikov, Yulia Nasykhova, Andrey Glotov
21-hydroxylase deficiency is present in 90–95% of cases of congenital adrenal hyperplasia (CAH). Eleven major pathogenic variants account for 93% of all identified variants in the CYP21A2 gene in various clinical forms of the disease. Each population has its own range of significant pathogenic variants. We aimed to study the frequency of pathogenic variants in the CYP21A2 gene using NGS technology
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Irreversible methadone-induced GSTP1 downregulation in SH-SY5Y cells Egypt. J. Med. Hum. Genet. Pub Date : 2024-03-12 Khyber Saify, Mostafa Saadat
Methadone has been reported to downregulate the expression of glutathione S-transferase P1 (GSTP1) among nine antioxidant genes in SH-SY5Y cells after both short- and long-term treatment. GSTP1 plays a key role in the detoxification of many xenobiotics and is frequently associated with various diseases, especially tumors. The objective of this study is to determine whether this change is reversible
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Technologies of gene editing and related clinical trials for the treatment of genetic and acquired diseases: a systematic review Egypt. J. Med. Hum. Genet. Pub Date : 2024-03-07 Wessam Sharaf-Eldin
Gene editing can produce irreversible permanent changes to the genetic material at predetermined sequences, avoiding random integration, which is the major drawback of classical gene therapy. The technology has invaded all approaches of genetic engineering and biotechnology with versatile applications in agriculture, industry, and medicine. The present review displays the different approaches and mechanisms
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Evaluation of expression levels of microRNA processing elements in patients with sudden sensorineural hearing loss Egypt. J. Med. Hum. Genet. Pub Date : 2024-03-05 Yalda Jabbari-Moghaddam, Dariush Shanehbandi, Milad Asadi, Saiedeh Razi-Soofiyani, Vahideh Hateftabar
MicroRNAs have a significant role in the function and development of the hearing system. Idiopathic sudden sensorineural hearing loss (SSNHL) is a complicated disorder with no long-established reason. Since microRNAs play imperative roles in every aspect of the neural system, their dysregulation may contribute to the onset of SSNHL. The current study aimed to assess the expression patterns of microRNA
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Genotype-biochemical phenotype analysis in newborns with biotinidase deficiency in Southeastern Anatolia Egypt. J. Med. Hum. Genet. Pub Date : 2024-03-05 Murat Karaoglan, Gulper Nacarkahya, Emel Hatun Aytac, Mehmet Keskin
Biotinidase deficiency (BTD) is characterized by a wide range of genetic variants. However, the correlation between these variants and the biochemical phenotypes of BTD is not well-established due to the diversity of the BTD gene, the variable nature of biotinidase, and difficulties in measuring enzyme activity. This study aims to identify BTD gene variants in newborns screened for biotinidase deficiency
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Consanguinity, complex diseases and congenital disabilities in the Souss population (Southern Morocco): a cross-sectional survey Egypt. J. Med. Hum. Genet. Pub Date : 2024-03-05 Noura Dahbi, Abderrazak El khair, Khadija Cheffi, Lamiaa Habibeddine, Jalal Talbi, Abderraouf Hilali, Hicham El ossmani
Several studies showed that the perpetuation of consanguinity increases homozygosity and homogenizes the population's gene pool. This allows the expression of recessive deleterious mutations and increases the prevalence of genetic disorders and birth defects. Despite the reported negative health effects, consanguinity is still practiced in Morocco. This study aimed to evaluate the prevalence and socio-demographic
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cxsAssociation study between single nucleotide polymorphism in thrombospondins THBS1 gene and THBS2 gene and coronary artery disease in Indian population Egypt. J. Med. Hum. Genet. Pub Date : 2024-02-29 Ale Eba, Syed Tasleem Raza, Irshad A. Wani, Zeba Siddiqi, Mohammad Abbas, Sanchita Srivastava, Farzana Mahdi
Coronary artery disease (CAD) is a complex medical condition characterized by atherosclerotic plaque accumulation in coronary arteries, leading to narrowed blood vessels and impaired blood flow. Endothelial dysfunction, smooth muscle cell proliferation, and various risk factors contribute to CAD development. Matricellular proteins, including thrombospondins (THBS), play crucial roles in vascular processes
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Identification of a novel ATR-X mutation causative of acquired α-thalassemia in a myelofibrosis patient Egypt. J. Med. Hum. Genet. Pub Date : 2024-02-28 Rosa Catapano, Filippo Russo, Marco Rosetti, Giovanni Poletti, Silvia Trombetti, Raffaele Sessa, Tommaso Fasano, Sauro Maoggi, Sante Roperto, Michela Grosso
Dear Editor, Acquired alpha-thalassemia mental retardation X-linked (ATRX) mutations are associated with the onset of α-thalassemia in several hematological malignancies including myelodysplasia, acute lymphoblastic leukemia, myelofibrosis, essential thrombocythemia, and acute myeloid leukemia (acquired α-thalassemia myelodisplastic syndrome, ATMDS) [1]. The ATRX gene (NM_000489.6) is located at Xq21
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A novel N7-methylguanosine-associated feature predicts prognosis in gastric cancer Egypt. J. Med. Hum. Genet. Pub Date : 2024-02-27 Shixing Zhao, Wenbo Zhao, Chunxia Yao, Yunxiao Tian
Despite substantial advancements in gastric cancer treatment in recent years, our understanding of the disease’s pathophysiology and progression processes remains limited, and the prognosis for gastric cancer patients remains poor. This study investigated potential prognostic indicators based on m7G-associated long non-coding RNA (lncRNA) and its relationship with gastric cancer (STAD). The researchers
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System biology approach to delineate expressional difference in the blood mononuclear cells between healthy and Turner syndrome individuals Egypt. J. Med. Hum. Genet. Pub Date : 2024-02-25 Anam Farooqui, Naaila Tamkeen, Safia Tazyeen, Sher Ali, Romana Ishrat
Turner syndrome (TS) is a rare disorder associated either with complete or partial loss of one X chromosome in women. The information on the genotype–phenotype relationship in TS is inadequate. Comparing the healthy and Turner syndrome patients may help elucidate the mechanisms involved in TS pathophysiology. Gene expression differences between healthy and individuals with Turner syndrome were characterized
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Association of SLC30A8 rs13266634 gene polymorphism with type 2 diabetes mellitus (T2DM) in a population of Noakhali, Bangladesh: a case–control study Egypt. J. Med. Hum. Genet. Pub Date : 2024-02-14 Farhana Siddiqi Mitu, Md. Murad Hossain, Shuvo Chandra Das, Md. Mafizul Islam, Dhirendra Nath Barman, Shipan Das Gupta
Type 2 diabetes mellitus (T2DM) is considered to be a polygenic disorder that emerges as a result of complicated gene-environment interactions. Several investigations revealed that SLC30A8 rs13266634 polymorphism elevates T2DM risk. T2DM and hypertension (HTN) are often found to be coexist. Compared to normotensive non-diabetic controls, T2DM patients with HTN have a fourfold increased risk of cardiovascular
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Emanuel syndrome due to unusual pattern Egypt. J. Med. Hum. Genet. Pub Date : 2024-02-12 Hala T. El-Bassyouni, Engy A. Ashaat, Khaled Hamed, Maha Rashed, Azza E. Abd-Elnaby, Marwa Shehab
The hallmarks of Emanuel syndrome are pre- and postnatal growth retardation, microcephaly, global developmental delay, ear anomalies, and in males, heart, kidney, and genital abnormalities. This study describes the atypical features of Emanuel syndrome, a rare chromosomal disorder. The patient had several physical features that are common in Emanuel syndrome, such as microcephaly, hypotonia, and ear
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Novel mutation as a cause of anterior segment dysgenesis leading to blindness in progeny: the genetics decoded! Egypt. J. Med. Hum. Genet. Pub Date : 2024-02-10 Kumari Pritti, Vineet Mishra, Somesh Aggarwal, Mehul Mistri, Manisha Chhetry
Anterior segment dysgenesis (ASD) disorders comprises of spectrum of developmental conditions affecting the structures of angle of anterior chamber including cornea, iris, and lens. These conditions are characterized by both autosomal dominant and recessive patterns of inheritance often with incomplete penetrance/variable expressivity. A significant overlap among phenotypes attributed to mutations
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Novel homozygous CARD11 variants in two patients with combined immunodeficiency and atopic skin disease Egypt. J. Med. Hum. Genet. Pub Date : 2024-02-09 Safa Meshaal, Rabab El Hawary, Dalia Abd Elaziz, Alia Eldash, Rania Darwish, Aya Erfan, Sohilla Lotfy, Mai M. Saad, Engy Chohayeb, Radwa Alkady, Jeannette Boutros, Nermeen Galal, Aisha Elmarsafy
Caspase recruitment domain family, member 11 (CARD11) is an important protein which plays a fundamental role in the activation of NF-κβ pathway in lymphocytes. CARD11 deficiency can be inherited in either autosomal dominant or autosomal recessive forms and present with different phenotypes including combined immunodeficiency, atopic dermatitis, and other variable manifestations. The present report
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BRCA mutations: screening for germ-line founder mutations among early-onset Syrian breast cancer patients Egypt. J. Med. Hum. Genet. Pub Date : 2024-02-08 Salma Wahabi Alzahabi, Maher Saifo, Ghalia Abou Alchamat
Breast cancer (BC) is the most common female cancers in many countries including Syria. Familial breast cancer or previous family cancer history are considered significant risk factors. Therefore, detecting the prevalence and founder mutations in the population facilitates genetic counselling, risk assessment and the development of a cost-effective screening strategy. In this study, we investigated
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Association of IL-4 (− 590 C/T) and IL-6 (− 174 G/C) gene polymorphism in South Indian CKD patients Egypt. J. Med. Hum. Genet. Pub Date : 2024-02-06 Vandit Sevak, Rathika Chinniah, Sasiharan Pandi, K. Sampathkumar, T. Dinakaran, Balakrishnan Karuppiah
The present study was undertaken to examine the role of IL-4 (− 590 C/T) (rs2243250) and IL-6 (− 174G/C) (rs1800795) polymorphism and the serum levels of IL-4 and IL-6 in chronic kidney disease (CKD). The IL-4 (− 590C/T) and IL-6 (− 174 G/C) polymorphisms were genotyped in 132 CKD patients and 161 controls using PCR–RFLP. Serum IL-4 and IL-6 quantifications were performed by ELISA. Significant susceptible
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Screening of GHSR, GHRHR, GH1 genes in isolated growth hormone deficiency disease in Egyptian patients Egypt. J. Med. Hum. Genet. Pub Date : 2024-02-03 Tamer H. A. Ammar, Ghada M. M. Al-Ettribi, Maha M. A. Abo Hashish, Tarek M. Farid, Amany A. Abou-Elalla, Manal M. Thomas
Isolated growth hormone deficiency (IGHD) is a hereditary disorder that causes significant short stature. GHD has a reported incidence of 1/4000–1/10,000 births. It is caused by mutations in the major somatotroph axis genes, involving GH1, codes for growth hormone, GHSR, and GHRHR, codes for growth hormone secretagogue receptor and growth hormone-releasing hormone receptor, respectively. The present
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Correction: Association between miR-138-5p, miR-132-3p, SIRT1, STAT3, and CD36 and atherogenic indices in blood mononuclear cells from patients with atherosclerosis Egypt. J. Med. Hum. Genet. Pub Date : 2024-01-31 Samira Ehsani, Maysam Mard-Soltani, Fatemeh Ahmadpour, Gholamreza Shahsavari
Following publication of the original article [1], the authors informed us that the author Maysam Mard-Soltani is Co-first Author of this paper. The original article has been corrected. Ehsani S et al (2023) Egypt J Med Hum Genet 24:84. https://doi.org/10.1186/s43042-023-00464-4 Article Google Scholar Download referencesAuthor notes Maysam Mard-Soltani is Co-first Author of this paper Authors and Affiliations
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DNA methylation of ELOVL2 gene as an epigenetic marker of age among Egyptian population Egypt. J. Med. Hum. Genet. Pub Date : 2024-01-30 Noha M. El-Shishtawy, Fatma M. El Marzouky, Hanan A. El-Hagrasy
Cellular and molecular changes occur during aging, decreasing organ function. The aging process was measured by several biomarkers, including DNA methylation (DNAm), an epigenetic change regulating gene expression, which is highly accurate at predicting biological age. DNAm is heritable and therefore varies between different populations. To assess blood DNA methylation changes as epigenetic clocks
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Evaluation of the effects of curcumin on chronic obstructive pulmonary disease with a bio-computational approach Egypt. J. Med. Hum. Genet. Pub Date : 2024-01-29 Mohammad Maboudian, Elham Amjad, Solmaz Asnaashari, Siavoush Dastmalchi, Babak Sokouti, Yousef Javadzadeh
According to the increasing trend of COPD, the timely diagnosis and treatment of the disease can reduce the high costs to the health systems. Therefore, by biological calculation methods, signaling pathways and genes involved in this disease can be obtained and used to design drugs and other treatment methods. By using biological calculations, we determined that curcumin can affect this disease and
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Emerging biomarkers and potential therapeutics of the BCL-2 protein family: the apoptotic and anti-apoptotic context Egypt. J. Med. Hum. Genet. Pub Date : 2024-01-27 Md. Saddam, Shamrat Kumar Paul, Mohammad Ahsan Habib, Md. Abrar Fahim, Afsana Mimi, Saiful Islam, Bristi Paul, Md Mostofa Uddin Helal
Apoptosis, also known as the programmed death of cells, is responsible for maintaining the homeostasis of tissues, and this function is carried out by caspases. The process of apoptosis is carried out via two distinct pathways: the extrinsic pathway, which is governed by death receptors, and the intrinsic pathway, also known as the mitochondrial pathway. The BCL-2 protein family encoded by the BCL-2
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Altered expression of long non-coding RNAs NRON and SNHG11 in patients with ischemic stroke Egypt. J. Med. Hum. Genet. Pub Date : 2024-01-25 Negin Gharbi, Hamideh Mahmoudinasab, Etrat Hooshmandi, Mousa Rahimi, Mahnaz Bayat, Najmeh Karimi, Seyedeh Shamim Hojati, Zoofa Zayani, Reza Tabrizi, Afshin Borhani-Haghighi
Long non-coding RNAs, known as LncRNAs, have demonstrated a robust association with the pathogenesis of stroke. NRON and SNHG are among the most extensively studied lncRNAs in the context of atherosclerosis and inflammatory conditions. Given the absence of a current pathophysiological hypothesis regarding the potential relevance of the SNHG family and NRON lncRNAs in ischemic stroke (IS), this study
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Association of common variant rs9934336 of SLC5A2 (SGLT2) gene with SARS-CoV-2 infection and mortality Egypt. J. Med. Hum. Genet. Pub Date : 2024-01-24 Anamika Das, Gunanidhi Dhangadamajhi
COVID-19 has its life-threatening complications more pronounced in people with underlying health conditions such as diabetes, cardiovascular disease and kidney disease. Inhibition of the sodiumglucose cotransporter 2 (SGLT2), which primarily increases urinary glucose excretion, is shown to be beneficial in patients with type 2 diabetes mellitus (T2D) and other comorbidities. SGLT2 is encoded by SLC5A2
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CD36 gene variant rs1761667(G/A) as a biomarker in obese type 2 diabetes mellitus cases Egypt. J. Med. Hum. Genet. Pub Date : 2024-01-24 Ashwin Kumar Shukla, Amreen Shamsad, Atar Singh Kushwah, Shalini Singh, Kauser Usman, Monisha Banerjee
Several reports discussed a connection between CD36 genotypes associated with obesity, influencing the development of Type 2 diabetes mellitus (T2DM). Therefore, this study examines the prognostic value of CD36 polymorphism rs1761667 (G/A) in individuals with obese T2DM. The investigation also explores the correlation between this genetic variation and the clinical/biochemical parameters of the subjects
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In silico analysis of mutation spectrum of Ehlers–Danlos, osteogenesis imperfecta, and cutis laxa overlapping phenotypes in Iranian population Egypt. J. Med. Hum. Genet. Pub Date : 2024-01-23 Teymoor Khosravi, Karim Naghipoor, Fatemeh Vaghefi, Ali Mohammad Falahati, Morteza Oladnabi
Ehlers–Danlos syndrome (EDS), osteogenesis imperfecta (OI), and cutis laxa (CL) are three rare and heterogeneous connective tissue disorders. Patients with these syndromes have similar manifestations and unpredictable prognosis, making a misdiagnosis highly probable. Some of their subtypes are inherited in autosomal recessive patterns, so they are expected to be prevalent in populations like Iran,
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Osteogenesis imperfecta type XVII: expansion of the phenotype Egypt. J. Med. Hum. Genet. Pub Date : 2024-01-23 Brooke M. Dunleavy, Alison J. Schildt, Caitlin Harrington, David A. Stevenson
Biallelic variants in SPARC are extremely rare, and have been reported in only a few cases of autosomal recessive osteogenesis imperfecta (OI) type XVII. Here, we describe an individual with a SPARC homozygous missense variant (c.787G > A; p.Glu263Lys) and expand on the phenotype. The proband had a history of multiple fractures, osteopenia, severe thoracolumbar levoscoliosis, rib fusion, global hypotonia
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Association of p53 codon 72 polymorphism with weight and metabolic diseases in a Central Indian population Egypt. J. Med. Hum. Genet. Pub Date : 2024-01-15 Jessy Abraham, Deepak Mahapatra, Pratishtha Agrawal, Mary Jovita James
Metabolic dysregulation leading to diabetes is a major public health concern in India. While evidence has pointed to a role for genetic factors, there is still limited knowledge regarding the specific variants that play a part in this process. Recent studies have implicated Tumor protein, p53, a well-known tumor suppressor, in maintaining metabolic homeostasis in our body. Polymorphisms that can disrupt
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MTHFR (C677T) polymorphism and its association with cytogenetic and clinical profile in individuals with primary amenorrhea Egypt. J. Med. Hum. Genet. Pub Date : 2024-01-08 Priyanka M. Sanghavi, Divya Chandel
Abnormal folate metabolism is a risk factor for DNA hypomethylation and chromosomal nondisjunction. MTHFR is a candidate gene for folliculogenesis and ovarian development. In the present study, we aimed to investigate the distribution of the MTHFR C677T polymorphism in individuals with primary amenorrhea and it’s association with the cytogenetic and clinical profile. The MTHFR polymorphism (C677T)
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Diagnostic and prognostic value of single nucleotide polymorphisms in autophagy-related genes (ATG) among Egyptian patients with breast cancer disease Egypt. J. Med. Hum. Genet. Pub Date : 2024-01-05 Sara F. Saadawy, Ahmed Raafat, Walaa E. Omar
Autophagy-related genes (ATGs), associated with autophagy, contribute to the pathogenesis of many illnesses, including cancer. ATGs’ role in breast cancer (BC) is still under investigation. Therefore, the current study aimed to determine whether genetic variants in core ATGs correlate with BC prognosis and investigate their impact on protein plasma levels. This case–control study was carried out on
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Pan-cancer analysis identified IGF2BP2 as a potential prognostic biomarker for multiple tumor types Egypt. J. Med. Hum. Genet. Pub Date : 2024-01-04 Hong-Lu Zhou, Dan-Dan Chen, Xiu-Ling Li
Insulin-like growth factor 2 (IGF2) mRNA-binding proteins 2 (IGF2BP2/IMP2), an RNA-binding protein encoded by the IGF2BP2 gene, exerts its influence across diverse pathological pathways. While accumulating evidence underscores the potential significance of IGF2BP2 in the tumorigenesis of specific cancers, a comprehensive pan-cancer investigation into its role remains absent. Consequently, we conducted
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The significance of miRNA-191-5P and miRNA-24-3P as novel biomarkers for multiple sclerosis: a case–control study Egypt. J. Med. Hum. Genet. Pub Date : 2024-01-03 Noha Mohamed Hosny Shaheen, Mai Mahmood Sherif Salahe Eldain Sherif, Amr Hassan El Sayed, Marwan Mohamed El Toukhy, Shaimaa Raafat Metwally Sayed Ahmed, Lamees Ahmed Samy, Hend Hamed Tamim
Multiple sclerosis (MS) is a long-term disease that can lead to disability. microRNAs (miRNA) can provide noninvasive markers allowing more frequent and easy testing in MS. Treatment methods based on manipulating miRNA activity can be innovative. The purpose of this work is to measure the serum expression of miRNA-191-5P and miRNA-24-3P in MS patients. The investigation was carried out on 80 patients
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Novel MTR compound-heterozygous mutations in a Chinese girl with HHcy due to methionine synthase deficiency, cblG: a case report Egypt. J. Med. Hum. Genet. Pub Date : 2024-01-03 Juan Luo, Xiaohong Chen, Hongxi Guo, Peiwei Zhao, Hui Yao, Lifang Feng, Luhong Yang
The methylcobalamin deficiency G (cblG) disorder, a rare autosomal recessive disease, is attributed to mutations in the MTR gene, resulting in heightened homocysteine levels and reduced methionine and megaloblastic anemia levels. This disease is predominantly diagnosed using MTR gene variation analysis. Herein, we report the case of a 2.1-month-old Chinese girl with the cblG disorder with poor feeding
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Evaluation of the expression of the long non-coding RNAs, LOWEG and MINCR, and their clinical significance in human gastric cancer Egypt. J. Med. Hum. Genet. Pub Date : 2023-12-21 Tooraj Ghasemzadeh, Ali Rajabi, Elaheh MalekAbbaslou, Parisa Najari, Sama Akbarzadeh, Samaneh Tayefeh-Gholami, Shahram Teimourian, MohammadAli Hosseinpourfeizi, Reza Safaralizadeh
Gastric cancer (GC) is currently the fifth most common malignancy. Accumulating evidence has recently revealed that maladjustments of diverse long non-coding RNAs may play key roles in multiple genetic and epigenetic phenomena in GC. Long non-coding RNAs (lncRNAs), which are transcriptional products with more than 200 nucleotides, are a subset of non-coding RNAs. LncRNA LOWEG and lncRNA MINCR, as novel
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Cognitive impairment in beta thalassemia major and intermedia pediatric patients: a cross-sectional study Egypt. J. Med. Hum. Genet. Pub Date : 2023-12-21 Esraa Elmorsi Abdelaziz Elderini, Amira Mohamed ELTohamy, Mona Hassan EL-Tagui, Mariam Saad Nassim
Thalassemia is a commonly occurring genetic hemoglobinopathy worldwide. Periodic and routine blood transfusions, iron chelation therapy and splenectomy procedures are all required for the treatment of thalassemia. Numerous organs and bodily systems could be impacted by thalassemia, particularly the nervous system, which could impede cognitive performance. The study aimed to assess cognitive abilities
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STAT3 gene polymorphisms and susceptibility to breast cancer in the Moroccan population Egypt. J. Med. Hum. Genet. Pub Date : 2023-12-16 Nassima Ighid, Soumaya El Akil, El Hassan Izaabel
Breast cancer is a complex disease due to its extremely complicated and varied etiology. It is found to be linked to improper transcription factor activation that interferes with normal breast development. Among these factors, signal transducer and activator of transcription (STAT) proteins play a crucial role in regulating gene expression and cell signaling. Specifically, STAT3, a member of the STAT
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Association between miR-138-5p, miR-132-3p, SIRT1, STAT3, and CD36 and atherogenic indices in blood mononuclear cells from patients with atherosclerosis Egypt. J. Med. Hum. Genet. Pub Date : 2023-12-16 Samira Ehsani, Maysam Mard‑Soltani, Fatemeh Ahmadpour, Gholamreza Shahsavari
Developed countries have a high mortality rate from atherosclerosis and are frequently linked to inflammation and other blood lipid disorders. MicroRNA expression can affect atherosclerotic plaque formation, lipid metabolism, inflammation, and other related processes. The search aimed to determine whether microRNA-138-5p or microRNA-132-3p expression levels are related to patient atherogenic genes
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A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report Egypt. J. Med. Hum. Genet. Pub Date : 2023-12-13 Paula Conde-Rubio, Ana Julia García-Malinis, Elvira Salvador-Rupérez, Silvia Izquierdo Álvarez, Ricardo González-Tarancón
Gorlin syndrome (GS) is a rare genetic disorder inherited in an autosomal dominant manner caused by genetic variants in PTCH1, SUFU, or PTCH2 genes. It is characterized by multiple basal cell carcinomas, odontogenic keratocysts, skeletal abnormalities, and predisposition to neoplasms. A novel splice-site variant in the PTCH1 gene, c.3549+1G>T classified as pathogenic, was identified in a patient with
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Description of a patient with developmental delay and dysmorphic features caused by a novel SHANK2 deletion Egypt. J. Med. Hum. Genet. Pub Date : 2023-12-13 David Molina Herranz, Amelia Moreno Sánchez, Gema Carmen Marcén, Belén Salinas Salvador, Raquel Pérez Delgado, Silvia Izquierdo Álvarez
The SHANK gene, located on chromosome 11q13.3-q13.4, encodes the SHANK2 protein with a function in neuronal synapses. An error in coding can alter the development of typical cognitive, linguistic and social skills. However, its alteration produces a phenotype that has yet to be fully defined. We present the case of a patient diagnosed with a deletion in the SHANK2 gene as an infant and its subsequent
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Germline rad 50 mutation in a case with synchronous breast and kidney cancer: a rare case Egypt. J. Med. Hum. Genet. Pub Date : 2023-12-13 Bhargavi Ilangovan, Ganapathy Raman, Vikas Mahajan
Breast cancer has been reported to occur synchronous with ovarian, endometrial and even colon cancers. A synchronous renal cancer is rare. And its association with RAD 50 mutation is not known. We are reporting a 42 year old lady who was evaluated for a breast lump and was incidentally found to have a renal lesion. She underwent surgery for both and was found to have a T1c breast tumour and a renal
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Evaluation of therapeutic potentials of some bioactive compounds in selected African plants targeting main protease (Mpro) in SARS-CoV-2: a molecular docking study Egypt. J. Med. Hum. Genet. Pub Date : 2023-12-11 Ishola Abeeb Akinwumi, Barakat Olamide Ishola, Oluwatosin Maryam Adeyemo, Adefolarin Phebean Owojuyigbe
Coronavirus disease 2019 (COVID-19) is an infectious disease brought on by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a global treat in early 2020. Despite worldwide research proving different medications used to treat COVID-19, the infection still affects the human race; we need to continue researching the virus to protect humanity and reduce the complications that some medications
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Effect of oxidative stress-related genetic variants: “Explicating the role of reactive oxygen species influenced antioxidant gene polymorphism,” a risk stratification of type 2 diabetes mellitus-associated nephropathy: a systematic review Egypt. J. Med. Hum. Genet. Pub Date : 2023-12-07 Farhana Begum, Karpagavel Lakshmanan
Type 2 diabetes mellitus is believed to be associated with microvascular complications which include diabetic retinopathy, nephropathy, and neuropathy. Oxidative stress plays a predominant role in the pathogenesis of DN and also influences metabolic endeavor and its hemodynamic pathways to possess various associations with renal complications, and one such is diabetic nephropathy which is the insignificant
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The study of the impact of additional chromosomal aberrations and c-MYC and BCR::ABL1 genes amplification on CML patient’s characteristics: relation to haematological parameters and patient outcome Egypt. J. Med. Hum. Genet. Pub Date : 2023-12-06 Hend Attia, Dina Adel Fouad, Heba Samy
Chronic myeloid leukaemia is characterised by genetic instability which results in additional cytogenetic aberrations that have been linked to progression to advanced phase. Genomic study linked amplified genes in the form of c-MYC and/or the rare BCR::ABL1 genes amplification to chronic myeloid leukaemia. The effect of these genes’ amplification on patients’ characteristics and disease progression
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Identification of the cuproptosis-related ceRNA network and risk model in acute ischemic stroke by integrated bioinformatics analysis Egypt. J. Med. Hum. Genet. Pub Date : 2023-11-29 Fang Jia, Bingchang Zhang, Chongfei Li, Weijie Yu, Zhangyu Li, Zhanxiang Wang
Acute ischemic stroke (AIS) is one of the leading contributors to death and disability in adults. And cuproptosis is a novel type of cell death. Yet, its role in AIS is still unknown. The mRNA, miRNA, and circRNA expression data were downloaded from the Gene Expression Omnibus database. We explored differentially expressed circRNAs (DEcircRNAs), microRNAs (DEmiRNAs), and cuproptosis-related genes (DECuRGs)
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B-lymphocyte-activating factor is a potential biomarker associated with susceptibility to Graves’ disease in Iraqi women Egypt. J. Med. Hum. Genet. Pub Date : 2023-11-17 Hiba Y. Ibrahim, Ghassan M. Sulaiman, Ali H. Ad’hiah, Mohamed S. Al-shammaa
B-lymphocyte-activating factor (BAFF) is a cytokine involved in regulating the development and maturation of B lymphocyte and has been shown to be up-regulated in patients with Graves’ disease (GD). However, the association of TNFSF13B variants (the gene that encodes BAFF) with the risk of GD has not been well explored. In this case–control study, the aim was to evaluate the role of BAFF, in terms
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Association of OXTR polymorphism (rs53576) with depression: a meta-analysis Egypt. J. Med. Hum. Genet. Pub Date : 2023-11-15 Moez Eid, Ekaterina G. Derevyanchuk, Elena V. Butenko
Depression is a common psychiatric disorder that negatively affects mood and thoughts. Association studies of OXTR polymorphisms with depression have been performed repeatedly. However, the results of these studies were inconsistent. The aim of the present study was to perform a meta-analysis of case–control studies that have investigated the relationship between the OXTR polymorphism (rs53576) and
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Association of ABCA1 gene with Coronary Artery Disease (CAD): an overview Egypt. J. Med. Hum. Genet. Pub Date : 2023-11-11 Tanu Yadav, Arti Yadav, Asif Jafri, Suchit Swaroop
This review is a summarized study on CAD, CVD, atherosclerosis, and its association with the ABCA1 gene. Only 13 clinical as well as epidemiological and peer-reviewed research papers published in the associated field were chosen for the review from out of 55 articles. The research papers have been collected and studied from PubMed, Research Gate, and Google Scholar search engines. In the study, it
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Association of maternal genetic polymorphisms with fetal growth restriction syndrome in Russian pregnant women from Rostov region Egypt. J. Med. Hum. Genet. Pub Date : 2023-11-10 Dema Alset, Elena Viktorovna Butenko, Inna Olegovna Pokudina, Tatiana Pavlovna Shkurat, Ekaterina Andreevna Zabanova, Natalia Borisovna Kuznetsova
Fetal growth restriction (FGR) is one of the main syndromes causing fetal morbidity and mortality. It was known to be associated with different factors including maternal, fetal, and environmental. However, the effect of genetic factors in FGR is not totally understood. Recently, researchers have focused on investigating genetic variants as possible markers of FGR. This especially concerns maternal
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Effect of hydroxyurea on SP1, LIN28B, IGF2BP3, COL4A5, BCL2, gamma globin genes expression: an in vitro study Egypt. J. Med. Hum. Genet. Pub Date : 2023-11-07 Akram Agha-Amini Fashami, Esmat Alemzadeh, Hossein Safarpour, Ebrahim Miri-Moghaddam
In some β-thalassemia intermedia patients, hydroxyurea (HU) increases hemoglobin and HbF levels. However, HUs’ effects molecular mechanism is still unclear. In this study, a weighted gene co-expression network analysis was conducted on the GSE109186 dataset. The genes LIN28A, COL4A5, SP1, BCL2, and IGF2BP3 were identified as hub genes involved in the γ-gene switching process. The effect of HU treatment
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Association of ADAM33 gene with COPD pathophysiology: a case–control study Egypt. J. Med. Hum. Genet. Pub Date : 2023-11-02 Tahmina Soomro, Manthar Ali Mallah, Zaka Un Nisa, Naeem Asim, Reema Aslam, Akriti Kafle, Nafeesa Khatoon
Worldwide, Chronic Obstructive pulmonary disease (COPD) is a main cause of morbidity and mortality. Considering the global increase in the prevalence of COPD, research on the genetic factors that predispose to COPD is reviving. Recently, ADAM 33 has been found to be related to severe lung function decline and COPD. The present study is carried out with the main aim of determining the association of
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Effect of Dioscorea extract on Bax and Bcl-2 gene expression in MCF-7 and HFF cell lines Egypt. J. Med. Hum. Genet. Pub Date : 2023-11-01 Fatemeh Bojar Doulaby, Mahsa Kavousi, Faranak Jamshidian
In cancer cells, the balance between proliferation and apoptosis is disturbed. There is a direct relationship between gene expression and the process of apoptosis. The two genes involved in apoptosis are Bax and Bcl-2, and it is now well established that some plant compounds can alter the expression of genes. The aim of this study is to determine the rate of change in the expression of these genes
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Association of IL-1β rs16944 and IL-1RN rs2234663 gene polymorphisms with graft function in renal transplant recipients Egypt. J. Med. Hum. Genet. Pub Date : 2023-10-31 Marianne Samir Makboul Issac, Maggie S. El Nahid
After renal transplantation, renal graft function affects both patient and graft survival. There is growing evidence of the genetic association between interleukin-1β (IL-1β) or its receptor antagonist (IL-1RN) and graft function in renal transplantation. The objective of this study is to investigate the role of the recipient IL-1β and IL-1RN gene polymorphisms and their haplotypes on renal graft outcome