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Egyptian Journal of Medical Human Genetics
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  1. Wilson disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in various organs, principally in the liver and brain. The disease can be manifested with hepatic, neurologic...

    Authors: Maryem Sahli, Abdelali Zrhidri, Youssef El Kadiri, Imane Cherkaoui Jaouad, Toufik Meskini and Abdelaziz Sefiani
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:54
    Content type: Case Report Published on:

  2. Non-alcoholic fatty liver disease (NAFLD) is the most common chronic liver disease showing a rising prevalence globally. Genetic predisposition plays a key role in the development and progression of the diseas...

    Authors: Saumya Madushani Samarasinghe, Asanka Sudeshini Hewage, Rohan Chaminda Siriwardana, Kamani Hemamala Tennekoon, Madunil Anuk Niriella and Sumadee De Silva
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:53
    Content type: Review Published on:

  3. Angiotensin-converting enzyme (ACE) gene polymorphism and elevated apolipoprotein B (apoB) are important risk factors for several cardiometabolic abnormalities. However, much less attention has been given to t...

    Authors: Seyielenuo Suokhrie, Vineet Chaudhary, Sumit Mishra, Benrithung Murry and Naorem Kiranmala Devi
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:52
    Content type: Research Published on:

  4. Flavin monoamine oxidase gene encodes a protein (MAOB) that forms a part of the flavin monoamine oxidase family in the outer membrane of mitochondria. It plays a role in the tissue metabolism of neuroactive an...

    Authors: Mohammad Habibur Rahman Molla, Amer H. Asseri and Md. Shafiqul Islam
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:51
    Content type: Research Published on:

  5. Organic anion transporters and efflux transporters are involved in the metabolism of drugs such as tenofovir disoproxil fumarate (TDF). Given the important role of organic anions and efflux transporters in dru...

    Authors: Nicholas Ekow Thomford, Faustina Adu, Cyril Gavor-Kwashi, Samuel Badu Nyarko, Paul Nsiah, Richard Dadzie Ephraim, George Adjei and Akwasi Anyanful
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:50
    Content type: Research Published on:

  7. Certain serum levels of microRNAs (miRNAs) throughout the body can be helpful for cancer diagnosis and prognosis. The miRNAs can be secreted from the papillary thyroid cancer (PTC) into the circulatory system....

    Authors: Gholam-Reza Mobini, Homayon Yousefi, Ali Shojaeian, Mahmood Mirhoseini and Mohammad-Reza Mahmoudian-Sani
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:48
    Content type: Research Published on:

  8. LHPP is a tumor suppressor protein associated with various malignancies like liver, oral, pharyngeal, bladder, cervical, and gastric cancers through controlling various pathways. Several single nucleotide vari...

    Authors: Tasmiah Feroz and Md. Kobirul Islam
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:47
    Content type: Research Published on:

  9. The hematopoietic malignancy acute myeloid leukemia is a fatal disease with poor clinical prognoses. Long non-coding RNA taurine-upregulated gene1 (lncRNA TUG1) and zinc finger E-box binding homeobox 2 antisense ...

    Authors: Amira Mohamed Noureldin Abdelrahman, Safia Mohammed Diab, Howyda Moh. Kamal Shabaan, Mai Nasser Abdelmomen Ahmed and Reem Nabil
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:46
    Content type: Research Published on:

  10. Chronic sinusitis is one of the most challenging health problems of contemporary society. Although several treatment methods have been defined, a comprehensive understanding of the underlying causes (e.g., ant...

    Authors: Mojdeh Arian Nejad, Milad Sabaei, Alireza Ahmadi, Sara Minaeian, Danesh Amin Panah and Kimia Mozahheb Yousefi
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:45
    Content type: Research Published on:

  11. Metabolic syndrome (MetS) is characterized by visceral obesity, elevated blood pressure and fasting blood glucose, increased triglycerides, and lower high-density lipoprotein cholesterol. MetS related with int...

    Authors: Nur Sakinah Harun, Azizul Fadzli Wan Jusoh, Mohd Adzim Khalili Rohin, Rosliza Yahaya, Nik Ahmad Shaifuddin Nik Him and Mohd Nizam Zahary
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:44
    Content type: Research Published on:

  12. Male infertility is a complex, multifactorial pathological condition with a highly heterogeneous phenotypic variation, from complete absence of spermatozoa in the testicles (azoospermia) to marked changes in s...

    Authors: Irem Yildiz, Nevin Karakus and Fikret Erdemir
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:43
    Content type: Research Published on:

  13. Achromatopsia is an autosomal recessive disease characterized by poor visual acuity, lack of color vision, nystagmus, and marked photophobia. The symptoms can be extremely disabling, and at present, there is n...

    Authors: Kumari Pritti, Vineet Mishra, Udhaya Kotecha and Somesh Aggarwal
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:42
    Content type: Case Report Published on:

  15. Infertility is a widespread issue that affects over five million couples globally. The cause of this condition can be related to women, men, or both. Male infertility, as a clinical disorder, can be caused by ...

    Authors: Roya Sinaei, Khosro Jamebozorgi, Hossein Mirshekarpour, Hossein Poormasoumi, Amirhossein Mahdizadeh, Zahra Akbari and Eskandar Taghizadeh
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:40
    Content type: Review Published on:

  16. Hearing loss occurs during various periods of life. Around half of the world's hearing loss is considered to be inherited or genetic. Audiologists play a key role in educating the patient/family about the orig...

    Authors: Harini Madhu, Sathya Harinath and Venkatachalam Deepa Parvathi
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:39
    Content type: Research Published on:

  18. Inter-individual variations in the clinical manifestations of SARS-CoV-2 infection are among the challenging features of COVID-19. The known role of telomeres in cell proliferation and immune competency highli...

    Authors: Ata Mahmoodpoor, Sarvin Sanaie, Maqsoud Eskandari, Nazila Behrouzi, Majid Taghizadeh, Faranak Roudbari, Babak Emamalizadeh, Nasim Sohrabifar and Somayeh Kazeminasab
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:37
    Content type: Research Published on:

  19. Congenital muscular dystrophies (CMD) and congenital myopathies (CM) are clinically and genetically heterogeneous groups of neuromuscular disorders resulting in prenatal or early-onset hypotonia, muscle weakne...

    Authors: Youssef El Kadiri, Ilham Ratbi, Mouna Ouhenach, Siham Chafai Elalaoui, Imane Cherkaoui Jaouad, Abdelali Zrhidri, Maryem Sahli, Nazha Birouk, Abdelaziz Sefiani and Jaber Lyahyai
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:36
    Content type: Research Published on:

  20. There are limited data on family screening and genetic testing in pediatric cardiomyopathy from India. This study was conducted to describe the morphologic spectrum and identify potential familial and genetic ...

    Authors: Dheeraj D. Bhatt, Susi Mathews, Vanshika Ahuja, Uzma Shamim, Bharathram Uppilli, Shreya Bari, Dinesh Kumar and Faruq Mohammed
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:35
    Content type: Research Published on:

  21. Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder that leads to multisystem involvement. It is caused by mutations in the CYP27A1 gene which encodes the mitochondrial enzym...

    Authors: Zahra Beyzaei, Hossein Moravej, Mohammad Hadi Imanieh, Sorour Inaloo and Bita Geramizadeh
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:34
    Content type: Case Report Published on:

  22. Prostatic adenocarcinoma is the most frequent malignancy among elderly men after lung cancer, which has the second incidence and the fourth mortality rate in the Iranian population. The primary objective of th...

    Authors: Abbas Rahimi, Seyed Abdolhamid Angaji, Gilda Karimi, Behnaz Beikzadeh, Raheleh Roudi and Behzad Narouie
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:33
    Content type: Research Published on:

  23. Lamb–Shaffer syndrome (LAMSHF) is a rare neurodevelopmental disorder caused by heterozygous mutation or microdeletion involving the SOX5 gene. LAMSHF is characterize by developmental delay, intellectual disabilit...

    Authors: Jose Cuenca Alcocel, Elena Criado Álamo, Elvira Salvador-Rupérez, Nuria Goñi Ros, Silvia Izquierdo Álvarez, Jose Luis Peña Segura and Ricardo González-Tarancón
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:32
    Content type: Case Report Published on:

  24. Tyrosine kinase inhibitors (TKIs) are prescribed as a targeted therapy to treat chronic myeloid leukemia patients. A challenge in clinical practice is that despite excellent efficacy and improved clinical resp...

    Authors: Erfan Zaker, Negar Nouri, Sepehr Sorkhizadeh, Hamidreza Ghasemirad, Amir Hossein Hajijafari and Fateme Zare
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:31
    Content type: Review Published on:

  25. Authors: Saliha Handan Yildiz, Cem Karaosmanoğlu, Rahmi Duman, Nuray Varol, Müjgan Özdemir Erdoğan, Mustafa Solak, Reşat Duman and Muhsin Elmas
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:30
    Content type: Correction Published on:

    The original article was published in Egyptian Journal of Medical Human Genetics 2023 24:16

  26. Stratification analysis studies showed that ethnicity has a significant association regarding MTHFR C677T variant and congenital heart diseases (CHDs) risk, and many published studies have controversial conclusio...

    Authors: Nora N. Esmaiel, Engy A. Ashaat, Ghada M. Al-Ettribi, Alaaeldin Fayez, Sonia A. Alsaiedi and Mona O. El Ruby
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:29
    Content type: Research Published on:

  27. A case of thyroid hormone deficiency which presented at birth. Thyroid hormones are essential for brain development and normal cognitive function. Common symptoms of congenital hypothyroidism (CH) include cons...

    Authors: Heba Elsedfy and Radwa Gamal
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:28
    Content type: Case Report Published on:

  28. Understanding the genetic and molecular pathophysiology of lymphedema contributes to the identification of the complex interaction of genes associated with lymphedema and provides a key therapeutic opportunity...

    Authors: Mohammed Youssef Shakra, Sherief Ibrahim, Mostafa El Shahat, Amr Mohamed, Alaa Sharapy, Adel Omar and Alshaimaa AlSaeed
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:27
    Content type: Research Published on:

  29. Acute myeloid leukemia (AML) is a cancer of hematopoietic progenitors characterized by gene mutations. The most popular deregulations are mutation and altered expression in the p53 gene, which is considered th...

    Authors: Reem Nabil, Samar S. Elshazly, Naglaa M. Hassan and Hend A. Nooh
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:26
    Content type: Research Published on:

  30. Charcot–Marie–Tooth disease comprises a large spectrum of clinically heterogeneous disorders. PLEKHG5 variants have shown an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease C and distal spina...

    Authors: Mostafa Neissi, Hadideh Mabudi, Adnan Issa Al-Badran, Javad Mohammadi-Asl and Raed Abdulelah Al-Badran
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:25
    Content type: Case Report Published on:

  31. The P53 protein has an essential role in several cellular processes, including DNA repair, apoptosis, and cell cycle arrest. The pathophysiology of many cancer types has frequently been linked to polymorphisms...

    Authors: Shaza Ahmed, Gehan Safwat, Mohamed M. Moneer, AbdelWahab El Ghareeb, Ahmed A. El Sherif and Samah A. Loutfy
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:24
    Content type: Research Published on:

  33. Inter-individual differences in regulation and activity of xenobiotic metabolizing enzymes (XMEs) CYP1A and GST might cause distinct susceptibility to chronic rhinosinusitis (CRS) phenotypes that need to be explo...

    Authors: Madhavi Jangala, Santoshi Kumari Manche, Madhu Mohan Katika, Raja Meghanadh Koralla and Jyothy Akka
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:22
    Content type: Research Published on:

  34. Long noncoding RNAs are characterized as noncoding transcripts longer than 200 nucleotides in response to a variety of functions within the cells. They are involved in almost all cellular mechanisms so as epig...

    Authors: Maryam Ranjbar, Samaneh Heydarzadeh, Mahmoud Shekari Khaniani, Zahra Foruzandeh, Farhad Seif, Majid Pornour, Dara Rahmanpour, Vahideh Tarhriz and MohammadReza Alivand
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:21
    Content type: Review Published on:

  35. Lung cancer remains one of the most lethal carcinomas worldwide because of its late diagnosis. One of the DNA modifications is methylation, one of the primary alterations of tumor development, consisting of fa...

    Authors: Mahdieh Pourasghariazar, Habib Zarredar, Milad Asadi, Ayse Caner, Aisan Akhgari, Hamed Valizadeh, Soghra Bornehdeli, Shahryar Hashemzadeh and Mortaza Raeisi
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:20
    Content type: Research Published on:

  36. The apolipoprotein A5 (APOA5) gene, significantly expressed in liver, has been involved in regulation of triglyceride metabolism, plasma lipid levels, serum adipokine levels and cardiovascular traits. A single-nu...

    Authors: Rafat Fatma, Waseem Chauhan, Seema Riyaz, Khalid Rasheed and Mohammad Afzal
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:19
    Content type: Research Published on:

  37. Migraine is a neurovascular disorder; several studies have demonstrated the immune system plays a key role in migraine pathogenesis. The aim of this study was to investigate the association between FOXP3 gene pol...

    Authors: Fardin Faraji, Ghasem Mosayebi, Maryam Bahrami and Mana Shojapour
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:18
    Content type: Research Published on:

  38. Hepatocellular carcinoma (HCC) is the most common primary liver cancer. It has the sixth most incident cases with poor prognosis. Adipokines are known to have been linked with oncogenesis and progression of HCC.

    Authors: Prithvi Singh, Rishabh Gurung, Armiya Sultan and Ravins Dohare
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:17
    Content type: Research Published on:

  39. The human lens develops age-related cataracts (ARCs) because of the complicated effects of aging and stressful conditions. Under conditions involving oxidative stress, cells form stress granules (SGs). TDRD7 has ...

    Authors: Saliha Handan Yildiz, Cem Karaosmanoğlu, Rahmi Duman, Nuray Varol, Müjgan Özdemir Erdoğan, Mustafa Solak, Reşat Duman and Muhsin Elmas
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:16
    Content type: Research Published on:

    The Correction to this article has been published in Egyptian Journal of Medical Human Genetics 2023 24:30

  40. Colon cancer is the third most common cancer and the fourth leading cause of death from cancer. Some parasites are introduced as an antineoplastic agents that can inhibit the progress of some cancers. The aim ...

    Authors: Seyedmousa Motavallihaghi, Hamid Tanzadehpanah, Sara Soleimani Asl, Ali Shojaeian, Milad Yousefimashouf and Nastaran Barati
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:15
    Content type: Research Published on:

  41. The coronavirus disease 2019 (COVID-19) pandemic has caused human tragedy through the global spread of the viral pathogen SARS-CoV-2. Although the underlying factors for the severity of COVID-19 in different p...

    Authors: Fatemeh Arab, Samaneh Mollazadeh, Farnaz Ghayourbabaei, Meysam Moghbeli and Ehsan Saburi
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:14
    Content type: Review Published on:

  42. Organic cation transporter 2 (OCT2) is a renal carrier transporter protein found in the basolateral membrane of proximal epithelial cells, which facilitates active secretion of Metformin. The genetic polymorph...

    Authors: Swathi Swaroopa Borra, Niva Rose Jane, Dhivyaprasath Palaniappan, Rupakrishnan Subramanian, Mithila Amar Patankar, Sadagoban Gopal Krishnamoorthy and Arun Kanniyappan Parthasarathy
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:13
    Content type: Review Published on:

  43. Hypomyelinating leukodystrophy (HLD) is a specific group of leukodystrophies and is characterized by progressive postnatal growth delay that represents a type of clinically overlapping but genetically heteroge...

    Authors: Maryam Akbari, Zeinab Ebrahimi Tapeh, Mona Zaersabet, Hamzeh Rahimi and Maziar Ganji
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:12
    Content type: Research Published on:

  44. Acute myeloid leukemia (AML) is a heterogeneous disorder encompassing a set of hematopoietic tumors that develop when the myeloid precursor cells undergo disproportionate clonal proliferation. Homeobox A 9 (HOXA9

    Authors: Amira M. N. Abdelrahman, Fetnat Mahmoud Tolba, Howyda Mohamed Kamal, Mona S. Abdellateif, Heba Abdelmoneim Ahmed and Naglaa M. Hassan
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:11
    Content type: Research Published on:

  45. COVID-19 is a respiratory disease caused by a novel coronavirus called as Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). Detected for the first time in December 2019 in Wuhan and it has quickly ...

    Authors: Meryem Fakhkhari, Hayat Caidi and Khalid Sadki
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:10
    Content type: Review Published on:

  46. The pathogenesis of autism spectrum disorder (ASD) is not fully clarified. Next-generation sequencing technologies have greatly enhanced the identification of new genes associated with ASD. Variants in ANK2 gene ...

    Authors: Catarina Granjo Morais, Rita Quental, Lara Lourenço, Micaela Guardiano, Cármen Silva and Miguel Leão
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:9
    Content type: Case Report Published on:

  47. Mitochondrial diseases are a group of rare inborn metabolic disorders with multi-systemic manifestations. MTO1 gene mutations are associated with MTO1 (Mitochondrial tRNA Translation Optimization 1) protein defic...

    Authors: Catarina Maria Almeida, Esmeralda Rodrigues, Teresa Almeida Campos, Laura Vilarinho and Elisa Leão Teles
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:8
    Content type: Case Report Published on:

  48. Mycobacteria include ubiquitous species of varying virulence. However, environmental and individual-specific factors, particularly host genetics, play a crucial role in the outcome of exposure to mycobacteria....

    Authors: Abderrahmane Errami, Jamila El Baghdadi, Fatima Ailal, Ibtihal Benhsaien, Kaoutar Ouazahrou, Laurent Abel, Jean-Laurent Casanova, Stephanie Boisson-Dupuis, Jacinta Bustamante and Ahmed Aziz Bousfiha
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:7
    Content type: Review Published on:

  49. Meyerozyma guilliermondii is a prospective yeast that has extensively contributed to the biotechnology sector. In 2015, M. guilliermondii strain SO which was isolated from spoiled orange has successfully been dev...

    Authors: Robiatul Azilah Zainudin, Suriana Sabri, Abu Bakar Salleh, Arpah Abu, Raja Farhana Raja Khairuddin and Siti Nurbaya Oslan
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:6
    Content type: Research Published on:

  50. Since MTHFR is the key enzyme in folate metabolism, its reduction can lead to hyperhomocysteinemia, which can have a negative impact on pregnancy outcome. Moreover, MTHFR polymorphism has also been linked with ox...

    Authors: Pratibha Rathod, Ajesh Desai and Divya Chandel
    Citation: Egyptian Journal of Medical Human Genetics 2023 24:5
    Content type: Research Published on:
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  • 2022 Citation Impact
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  • ISSN: 2090-2441 (electronic)