Works in Egyptian Journal of Medical Human Genetics, 2025, Vol 26, Issue 1

Results: 44

Management of mucopolysaccharidosis type I using enzyme replacement therapy: Egyptian experience: ERT in MPS type I.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00668-w
By:
- Fateen, Ekram;
- Sahrigy, Sally A. F. El;
- Ibrahim, Mona;
- Elhossini, Rasha M.;
- Ahmed, Hoda H.;
- Esmail, Asmaa;
- Radwan, Amira;
- Salama, Iman Ibrahim;
- ElBaky, Abeer M. NourElDin Abd;
- Ezzeldin, Nada;
- Rahman, Azza M. O. Abdel;
- Aglan, Mona
Publication type:
Article
Insights on 7p21 deletion including the TWIST1 gene: a case report of an adult patient with macroglossia and a literature review.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00674-y
By:
- Peker, Alp;
- Clark, Özden Altıok;
- Coşkun, Mert;
- Duru, Ali;
- Yalabık, Feyza Altunbaş;
- Aracı, Duygu Gamze;
- Toylu, Aslı;
- Uzuner, Sezin Yakut;
- Derin, Alper Tunga;
- Mıhçı, Ercan
Publication type:
Article
Unraveling the role of NOG gene in hereditary sensory neuropathy type 1F through CRISPR/Cas9-mediated ATL3 knockout.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00672-0
By:
- Saffar, Mahsa;
- Dara, Mahintaj;
- Fazelzadeh Haghighi, Maryam;
- Baneshi, Maryam;
- Tabei, Seyed Mohammad Bagher
Publication type:
Article
Identification of key genes and signaling pathway in the pathogenesis of Huntington's disease via bioinformatics and next generation sequencing data analysis.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00660-4
By:
- Vastrad, Basavaraj;
- Vastrad, Chanabasayya
Publication type:
Article
Genetic screening of malay familial hypercholesterolemia patient for LDLRAP1/PCSK9/APOB mutations via whole exome sequencing.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00673-z
By:
- Abdullah-Zawawi, Muhammad-Redha;
- Mohd Rani, Zam Zureena;
- Seeni Ahamed Mydeen, Nur Syakeera;
- Mohd Yunos, Ryia Illani;
- Sulaiman, Siti Aishah;
- Badaruddin, Izzatul 'Aliaa;
- Ismet, Rose;
- Mustafa, Norlaila;
- Abu Zahid, Syahidatun Najwa;
- Jamal, Rahman;
- Hamzah, Azrul Azlan;
- Abdul Murad, Nor Azian
Publication type:
Article
Correction: Association of VEGF promoter polymorphisms with gastrointestinal tract cancer risk and therapy response: a systematic review.
Published in:
2025
By:
- Mahajan, Deepanshi;
- Sambyal, Vasudha;
- Guleria, Kamlesh
Publication type:
Correction Notice
Apoptotic effects of crude muscle extract from marine pufferfish Chelonodon patoca against human cancer cell lines.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00667-x
By:
- Sekar, Niranjni;
- Valayapathi, Rajasekar;
- Azhagudurai, Aarthi;
- Durai, Prabhu;
- Selvakumar, Shiva Shakthi;
- Chinnasamy, Arulvasu
Publication type:
Article
Investigating the expression level of 9-methylated septin 9 in different grades of colorectal cancer—a meta-analysis study.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00666-y
By:
- Mohandesi khosrosroshahi, Elaheh;
- Bashi Zadeh Fakhar, Haniyeh;
- Akbari, Mohammad-Esmaiel;
- Izadi, Neda
Publication type:
Article
Blood group diversity in Borneo.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00664-0
By:
- Assyuhada, Mat Ghani Siti Nor;
- Hajar, Che Ghazali Norul;
- 'Adani, Sanusi Nurul;
- Hassan, Mohd Nazri;
- Mohammad Isa, Nilie Syamila;
- Ali, Nur Saiyidah Hanisah;
- Mohamad, Siti Aisyah;
- Aziz, Mohd Yusmaidie;
- Furqoni, Abdul Hadi;
- Chambers, Geoffrey Keith;
- Zulkafli, Zefarina;
- Edinur, Hisham Atan
Publication type:
Article
lncRNA FLVCR1-AS1 sponges miR-381-3p and promotes Wnt signaling pathway resulting in colorectal cancer progression.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00663-1
By:
- Ahmadi Beni, Faeze;
- Abdolvand, Mohammad;
- poorbafrani, Fariborz;
- Salehi, Mansoor;
- Dehghanian, Fariba;
- Kazemi, Mohammad
Publication type:
Article
An association study of polymorphisms in the P2RX7 gene in an Iranian population with the risk of type 2 diabetes mellitus.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00639-1
By:
- Noori, Homa;
- Rajabian, Majid;
- Majidpour, Mahdi;
- Sabeti Akbar-Abad, Mahboobeh;
- Saravani, Ramin
Publication type:
Article
FOXF2 rs41300825 and NOTCH3 rs1043994 as risk loci for cerebral small vessel disease in Egyptian ischemic stroke patients.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00641-7
By:
- Hussein, Fatma Salama;
- Sayed, Soha Saad Eldin;
- Mohammed, Hossam Shokri;
- Kamal, Maha Moustafa
Publication type:
Article
Unraveling the structural and functional consequences of non-synonymous single-nucleotide polymorphisms (nsSNPs) in human SOCS2: an in silico approach.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00669-9
By:
- Hossain, Tanvir;
- Islam, Md. Nur;
- Hossain, Md. Anwar;
- Rahman, Md. Mofizur;
- Islam, Mohammed Mafizul;
- Gupta, Shipan Das
Publication type:
Article
Assessing the association of rare MDR1 variants (rs944806668, rs1816042256, and rs1295312177) with steroid response in Iraqi children with idiopathic nephrotic syndrome.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00662-2
By:
- Abd Alridha, Ali Mohammed;
- Kadhim, Dheyaa Jabbar;
- Alkhazrajy, Ayad Hussein Ali
Publication type:
Article
Non-coding RNAs and exosomal ncRNAs in colorectal cancer.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00646-2
By:
- Zhoulideh, Yalda
Publication type:
Article
Adoptive transfer of natural killer cells in therapeutic treatment of COVID-19 patients.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00670-2
By:
- Alamri, Abdulaziz
Publication type:
Article
Unveiling the association between long non-coding RNAs (RP5-833A20.1, DYNLRB2-2, and APOA1-AS) and ischemic stroke: exploring biomarkers, and clinical implications: Expression of RP5-833A20.1, DYNL RB2-2, and APOA1 antisense after ischemic stroke: M. Bayat et al.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00658-y
By:
- Bayat, Mahnaz;
- Mokhtari, Mahsa;
- Mokhtari, Mohammad Javad;
- Gharbi, Negin;
- Tabrizi, Reza;
- Salehi, Mohammad Saied;
- Karimi, Najmeh;
- Rahimi, Moosa;
- Hooshmandi, Etrat;
- Zafarmand, Seyedeh Shaghayegh;
- Owjfard, Maryam;
- Lashanizadegan, Ramin;
- Dara, Mahintaj;
- Borhani-Haghighi, Afshin
Publication type:
Article
Evaluation of pathogenic variant in WFS1 in a patient with Wolfram syndrome.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00657-z
By:
- Hoseinzadeh, Marziyeh;
- Jahani, Mohammad Mehdi;
- Nasrniya, Samane;
- Tabatabaiefar, Mohammad Amin
Publication type:
Article
Unraveling relationship between the genetic polymorphism CYP2A13 and nicotine metabolism of male smokers in Medan, Indonesia.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00653-3
By:
- Soeroso, Noni Novisari;
- Zain-Hamid, Rozaimah;
- Bihar, Syamsul;
- Soliha, Chaliza;
- Ananda, Fannie Rizki;
- Aida
Publication type:
Article
Whole-exome sequencing and molecular dynamics confirm pathogenicity of a novel SLC6A6 mutation in Leber congenital amaurosis.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00659-x
By:
- Natarajan, Srikrupa N.;
- Ansar, Samdani;
- Sripriya, Sarangapani;
- Parveen, Sen;
- Gupta, Ravi;
- Vetrivel, Umashankar;
- Sinnakarupan, Mathavan
Publication type:
Article
Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00649-z
By:
- Tonyan, Ziravard N.;
- Nasykhova, Yulia A.;
- Danilova, Maria M.;
- Shabanova, Elena S.;
- Bespalova, Olesya N.;
- Kogan, Igor Y.;
- Glotov, Andrey S.
Publication type:
Article
Determination of damaging SNP's in SHANK3 gene with in silico methods.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00642-6
By:
- Albayrak, İrem Gülfem;
- Yektar, Şeyma;
- Kaya, Süeda
Publication type:
Article
Exploring the effects of alpha-pinene on apoptosis induction in human colon cancer cells via the PI3K/AKT signaling pathway: an in vitro study.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00656-0
By:
- Shafieipour, Sara;
- Zamanian, Yasaman;
- Hadipour, Elham;
- Sinaei, Reza;
- Khoshnazar, Seyedeh Mahdieh
Publication type:
Article
Correction: Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran.
Published in:
2025
By:
- Todarbary, Nafseh;
- Irandegani, Abouzar;
- Meshkat, Mojtaba;
- Gholoobi, Aida;
- Hamzehloei, Tayebeh
Publication type:
Correction Notice
Association between CAPN-10 gene variant and diabetes mellitus in Nigeria: a review.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00655-1
By:
- Adebo, David Olufemi;
- Olaniyan, Mathew Folaranmi;
- Ugege, Christian Onosetale;
- Odegbemi, Odekunle Bola
Publication type:
Article
Alu insertion polymorphisms and susceptibility to metabolic syndrome in a Moroccan population.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00637-3
By:
- Farhane, Hamid;
- Motrane, Majida;
- Soufaine, Karchali;
- Anaibar, Fatima-Ezzahra;
- Motrane, Aïcha;
- Abeid, Said Nassor;
- Hilali, Abderraouf;
- Harich, Nourdin
Publication type:
Article
Correction: Understanding integrative approach of translational bioinformatics on cardiovascular disease: Myocardial Ischemia.
Published in:
2025
By:
- Ranganathan, Yeswanth;
- Nazar, Saayaa;
- Krishnan, Ravi Shankar;
- Dinakarkumar, Yuvaraj;
- Varadarajan, Vijayalakshmi;
- Sebastian, Lenita;
- Rethinam, Brindha
Publication type:
Correction Notice
Association of functional variants in miRNA genes with the risk of coronary heart disease.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00650-6
By:
- Haq, Taqweem Ul;
- Khan, Muhammad Riaz;
- Ali, Sajjad;
- Aziz, Tariq;
- Albekairi, Thamer H.;
- Shah, Aftab Ali
Publication type:
Article
Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00635-5
By:
- Todarbary, Nafiseh;
- Irandegani, Abouzar;
- Meshkat, Mojtaba;
- Gholoobi, Aida;
- Hamzehloei, Tayebeh
Publication type:
Article
Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00635-5
By:
- Todarbary, Nafiseh;
- Irandegani, Abouzar;
- Meshkat, Mostafa;
- Gholoobi, Aida;
- Hamzehloei, Tayebeh
Publication type:
Article
Impact of ABO gene polymorphism and von Willebrand factor on genetic susceptibility to acute lymphoblastic leukemia in Egyptian pediatric patients.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-024-00633-z
By:
- Salim, Elsayed I.;
- Shaaban, Ahmed N.;
- Seleem, Amal K.;
- Attia, Zeinab I.
Publication type:
Article
In silico analysis of SNPs and miRNAs of KCTD13, CSDE1, SLC6A1 genes associated with autism spectrum disorder.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00644-4
By:
- Çoruh Kınalı, Kübra;
- Özkan Oktay, Ebru;
- Karahan, Mesut
Publication type:
Article
Pyrogallol acts as a novel anticancer factor to enhance the sensitivity to cisplatin in ovarian cancer cells through inducing miR-15a upregulation.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00647-1
By:
- Shirani, Azin;
- Mirabbasi, Razieh;
- Shabani, Leila;
- Reiisi, Somayeh
Publication type:
Article
A comprehensive in silico analysis of structural and functional impacts of natural nonsynonymous SNPs in the ALDH2_HUMAN gene.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00638-2
By:
- Mahmood Janlou, Mehr Ali
Publication type:
Article
Integrative transcriptome profiling for identifying ALS potential treatment using the drug repurposing approach.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00648-0
By:
- Kashani, Navid;
- Sabbaghian, Amir;
- EmamiPari, Fatemeh;
- Khalili Gorjimahalleh, Mohammad;
- Aalikhani, Mahdi
Publication type:
Article
In silico analysis of hub genes and regulatory networks implicates the putamen in non-motor Parkinson's disease disorders.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00643-5
By:
- Akanbi, Stephen Tunmise;
- Yusuf, Joshua Ayodele;
- Ayandele, Thompson Oluwaferanmi;
- Oladipupo, Dayo Samson;
- Olorunlowu, Darasimi Racheal;
- Olawuyi, Blessing Dorcas;
- Adepoju, Joshua Oluwafisayo;
- Opasina, Dolapo Emmanuel;
- Opoola, Elizabeth Kehinde;
- Ugwuanyi, Uchenna Victor;
- Adeleye, Olufunto Omodele
Publication type:
Article
A meta-analysis of whole blood transcriptome reveals genes associated with increased neutrophil activity and T cell suppression in sepsis.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00640-8
By:
- Shruthi, T. N.;
- Kolandaswamy, Anbazhagan;
- Somanna, Prabakara
Publication type:
Article
Association of VEGF promoter polymorphisms with gastrointestinal tract cancer risk and therapy response: a systematic review.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00634-6
By:
- Mahajan, Deepanshi;
- Sambyal, Vasudha;
- Guleria, Kamlesh
Publication type:
Article
Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00636-4
By:
- Singh, Amit;
- Garg, Mahak;
- Shariq, Mohammed;
- Khetarpal, Preeti;
- Panigrahi, Inusha
Publication type:
Article
Implications of cytokine genes polymorphisms in Jordanian patients with obsessive compulsive disorder.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-024-00631-1
By:
- Khalil, Ahmad M.;
- Khrais, Manal W.;
- Al-Qaoud, Khaled M.;
- Al Ta'any, Mohamad Y.
Publication type:
Article
The relationship between gallstone disease and the genetic variants of the sterol transporter adenosine triphosphate–binding cassette G8 and G5 in Egyptians.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-024-00626-y
By:
- Hassan, Menna A.;
- El-Khair, Salwa M. Abo;
- Mesbah, Noha M.;
- Abo-Elmatty, Dina M.;
- Abdel-Hamed, Asmaa R.
Publication type:
Article
Computer-guided identification of novel inhibitors of apoptosis-signaling kinase 1 from Spondia mombim bioactive compounds against colorectal cancer.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-024-00625-z
By:
- Elekofehinti, Olusola Olalekan;
- Popoola, Hannah Oluwaseun;
- Oluwatuyi, Adedotun Olayemi;
- Iwaloye, Opeyemi;
- Akinjiyan, Moses Orimoloye;
- Cecilia, Oluwamodupe;
- Ogundolie, Frank Abimbola;
- Olatunde, Olalekan Isaac;
- Abchir, Oussama;
- Chtita, Samir;
- Rocha, Joao Batista Texeira
Publication type:
Article
Analysis of genetic and pathologic association between diabetes mellitus and cervical cancer.
Published in:
Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-024-00632-0
By:
- Gupta, Prakhar;
- Gupta, Aankury;
- Khanam, Bushra
Publication type:
Article
MIRAGE syndrome: a case report of de novo SAMD9 c.884del p.(Pro295GlnfsTer104) variant and a novel phenotype of pyloric stenosis.
Published in:
2025
By:
- Assker, Mohamad M.;
- Al Haidar, Mahdia;
- Faris, Marwan;
- Emara, Ahmed;
- Al Abrach, Yousef;
- Al Shehhi, Maryam
Publication type:
Case Study