System biology approach to delineate expressional difference in the blood mononuclear cells between healthy and Turner syndrome individuals
SpringerOpen » Egyptian Journal of Medical Human Genetics
by Anam Farooqui, Naaila Tamkeen, Safia Tazyeen, Sher Ali and Romana Ishrat
3d ago
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 h ..read more
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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
SpringerOpen » Egyptian Journal of Medical Human Genetics
by Farhana Siddiqi Mitu, Md. Murad Hossain, Shuvo Chandra Das, Md. Mafizul Islam, Dhirendra Nath Barman and Shipan Das Gupta
2w ago
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 ..read more
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Emanuel syndrome due to unusual pattern
SpringerOpen » Egyptian Journal of Medical Human Genetics
by Hala T. El-Bassyouni, Engy A. Ashaat, Khaled Hamed, Maha Rashed, Azza E. Abd-Elnaby and Marwa Shehab
2w ago
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 ..read more
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Novel homozygous CARD11 variants in two patients with combined immunodeficiency and atopic skin disease
SpringerOpen » Egyptian Journal of Medical Human Genetics
by 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 and Aisha Elmarsafy
3w ago
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 auto ..read more
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BRCA mutations: screening for germ-line founder mutations among early-onset Syrian breast cancer patients
SpringerOpen » Egyptian Journal of Medical Human Genetics
by Salma Wahabi Alzahabi, Maher Saifo and Ghalia Abou Alchamat
3w ago
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 th ..read more
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Association of IL-4 (− 590 C/T) and IL-6 (− 174 G/C) gene polymorphism in South Indian CKD patients
SpringerOpen » Egyptian Journal of Medical Human Genetics
by Vandit Sevak, Rathika Chinniah, Sasiharan Pandi, K. Sampathkumar, T. Dinakaran and Balakrishnan Karuppiah
3w ago
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 ..read more
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DNA methylation of ELOVL2 gene as an epigenetic marker of age among Egyptian population
SpringerOpen » Egyptian Journal of Medical Human Genetics
by Noha M. El-Shishtawy, Fatma M. El Marzouky and Hanan A. El-Hagrasy
1M ago
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 expres ..read more
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Evaluation of the effects of curcumin on chronic obstructive pulmonary disease with a bio-computational approach
SpringerOpen » Egyptian Journal of Medical Human Genetics
by Mohammad Maboudian, Elham Amjad, Solmaz Asnaashari, Siavoush Dastmalchi, Babak Sokouti and Yousef Javadzadeh
1M ago
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 an ..read more
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Emerging biomarkers and potential therapeutics of the BCL-2 protein family: the apoptotic and anti-apoptotic context
SpringerOpen » Egyptian Journal of Medical Human Genetics
by Md. Saddam, Shamrat Kumar Paul, Mohammad Ahsan Habib, Md. Abrar Fahim, Afsana Mimi, Saiful Islam, Bristi Paul and Md Mostofa Uddin Helal
1M ago
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 ..read more
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Altered expression of long non-coding RNAs NRON and SNHG11 in patients with ischemic stroke
SpringerOpen » Egyptian Journal of Medical Human Genetics
by Negin Gharbi, Hamideh Mahmoudinasab, Etrat Hooshmandi, Mousa Rahimi, Mahnaz Bayat, Najmeh Karimi, Seyedeh Shamim Hojati, Zoofa Zayani, Reza Tabrizi and Afshin Borhani-Haghighi
1M ago
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 an ..read more
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