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  1. No Access

    Article

    The relationship between common mutations in CFTR, AR genes, Y chromosome microdeletions and karyoty** abnormalities with very severe oligozoospermia in Iranian men

    Male infertility due to very severe oligozoospermia has been associated with some genetic risk factors.

    Leyla Jafari, Kyumars Safinejad, Mahboobeh Nasiri, Mansour Heidari… in Genes & Genomics (2023)

  2. Article

    Open Access

    Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations

    Niemann-Pick disease type C (NPC) is a rare lysosomal neurovisceral storage disease caused by mutations in the NPC 1 (95%) or NPC2 (5%) genes. The products of NPC1 and NPC2 genes play considerable roles in glycol...

    Rezvan Abtahi, Parvaneh Karimzadeh, Omid Aryani, Diba Akbarzadeh… in Hereditas (2022)

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  3. No Access

    Article

    A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease)

    Pompe disease or glycogen storage disease type II is a glycogen storage disorder associated with malfunction of the acid α-glucosidase enzyme (GAA; EC.3.2.1.3) leading to intracellular aggregations of glycogenin ...

    Omid Aryani, Masoumeh Dehghan Manshadi, Mahdi Tondar… in Molecular Biology Reports (2014)

  4. No Access

    Article

    Fifteen novel mutations in the mitochondrial NADH dehydrogenase subunit 1, 2, 3, 4, 4L, 5 and 6 genes from Iranian patients with Leber’s hereditary optic neuropathy (LHON)

    Leber’s hereditary optic neuropathy (LHON) is an optic nerve dysfunction resulting from mutations in mitochondrial DNA (mtDNA), which is transmitted in a maternal pattern of inheritance. It is caused by three ...

    Zahra Rezvani, Elmira Didari, Ahoura Arastehkani… in Molecular Biology Reports (2013)

  5. Article

    Open Access

    Association of fibroblast growth factor (FGF-21) as a biomarker with primary mitochondrial disorders, but not with secondary mitochondrial disorders (Friedreich Ataxia)

    Mitochondrial respiratory chain deficiencies are a group of more than 100 disorders of adults and children, with highly variable phenotypes. The high prevalence of mitochondrial disorders (MIDs) urges the cli...

    Mohammad Hossein Salehi, Behnam Kamalidehghan… in Molecular Biology Reports (2013)

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  6. No Access

    Article

    Novel nucleotide changes in mutational analysis of mitochondrial 12SrRNA gene in patients with nonsyndromic and aminoglycoside-induced hearing loss

    Mitochondria have essential role in cellular energy metabolism and defects in their function lead to many metabolic diseases. Mitochondrial DNA (mtDNA) mutations have been associated with number diseases such ...

    Mohammad Ali Dowlati, Pupak Derakhshandeh-peykar… in Molecular Biology Reports (2013)

  7. No Access

    Article

    RAD51 polymorphisms and breast cancer risk

    Breast cancer (BC) is one of the most common causes of death among women, and second in Iran. The objectives of this study were to determine the frequency of RAD51 G/C polymorphism in patients with breast canc...

    Mojgan Hosseini, Massoud Houshmand, Ahmad Ebrahimi in Molecular Biology Reports (2013)

  8. No Access

    Article

    Mitochondrial DNA sequence diversity in three ethnic populations from the South-west Iran: a preliminary study

    To investigate the genetic structure of human populations in the South-west region of Iran, mitochondrial first hypervariable DNA sequences were obtained from 50 individuals representing three different ethnic...

    Elham Davoudi-Dehaghani, Ali Mohammad Foroughmand, Babak Saffari… in Frontiers in Biology (2011)