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  1. Article ; Online: B-cell maturation antigen targeting strategies in multiple myeloma treatment, advantages and disadvantages

    Shirin Teymouri Nobari / Jafar Nouri Nojadeh / Mehdi Talebi

    Journal of Translational Medicine, Vol 20, Iss 1, Pp 1-

    2022  Volume 17

    Abstract: Abstract B cell maturation antigen (BCMA), a transmembrane glycoprotein member of the tumor necrosis factor receptor superfamily 17 (TNFRSF17), highly expressed on the plasma cells of Multiple myeloma (MM) patients, as well as the normal population. BCMA ...

    Abstract Abstract B cell maturation antigen (BCMA), a transmembrane glycoprotein member of the tumor necrosis factor receptor superfamily 17 (TNFRSF17), highly expressed on the plasma cells of Multiple myeloma (MM) patients, as well as the normal population. BCMA is used as a biomarker for MM. Two members of the TNF superfamily proteins, including B-cell activating factor (BAFF) and A proliferation-inducing ligand (APRIL), are closely related to BCMA and play an important role in plasma cell survival and progression of MM. Despite the maximum specificity of the monoclonal antibody technologies, introducing the tumor-specific antigen(s) is not applicable for all malignancies, such as MM that there plenty of relatively specific antigens such as GPCR5D, MUC1, SLAMF7 and etc., but higher expression of BCMA on these cells in comparison with normal ones can be regarded as a relatively exclusive marker. Currently, different monoclonal antibody (mAb) technologies applied in anti-MM therapies such as daratuzumab, SAR650984, GSK2857916, and CAR-T cell therapies are some of these tools that are reviewed in the present manuscript. By the way, the structure, function, and signaling of the BCMA and related molecule(s) role in normal plasma cells and MM development, evaluated as well as the potential side effects of its targeting by different CAR-T cells generations. In conclusion, BCMA can be regarded as an ideal molecule to be targeted in immunotherapeutic methods, regarding lower potential systemic and local side effects.
    Keywords B-cell maturation antigen ; CAR-T cells ; Multiple myeloma ; Therapy ; Medicine ; R
    Subject code 570
    Language English
    Publishing date 2022-02-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss

    Tohid Ghasemnejad / Mahmoud Shekari Khaniani / Jafar Nouri Nojadeh / Sima Mansoori Derakhshan

    BMC Medical Genomics, Vol 15, Iss 1, Pp 1-

    in silico analysis of a case

    2022  Volume 10

    Abstract: Abstract Background Hereditary hearing loss (HHL) is a common heterogeneous disorder affecting all ages, ethnicities, and genders. The most common form of HHL is autosomal recessive non-syndromic hearing loss (ARNSHL), in which there is no genotype– ... ...

    Abstract Abstract Background Hereditary hearing loss (HHL) is a common heterogeneous disorder affecting all ages, ethnicities, and genders. The most common form of HHL is autosomal recessive non-syndromic hearing loss (ARNSHL), in which there is no genotype–phenotype correlation in the majority of cases. This study aimed to identify the genetic causes of hearing loss (HL) in a family with Iranian Azeri Turkish ethnicity negative for gap junction beta-2 (GJB2), gap junction beta-6 (GJB6), and mitochondrially encoded 12S rRNA (MT-RNR1) deleterious mutations. Methods Targeted genome sequencing method was applied to detect genetic causes of HL in the family. Sanger sequencing was employed to verify the segregation of the variant. Finally, we used bioinformatics tools and American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines to determine whether the detected variant might affect the corresponding protein or not. Results A novel homozygous missense mutation, c.499G>A (p.G167R), was identified in exon 5 of the ESRRB (estrogen-related receptor beta) gene. Healthy and affected family members confirmed the co-segregation of the variant with ARNSHL. Eventually, the variant's pathogenicity was confirmed by the in silico analysis and the ACMG/AMP guidelines. Conclusion The study suggests that the detected variant, c.499G>A, plays a crucial role in the development of ARNSHL, emphasizing the clinical significance of the ESRRB gene in ARNSHL patients. Additionally, it would be helpful for genetic counseling and clinical management of ARNSHL patients and providing preventive opportunities.
    Keywords Hearing loss ; Consanguineous marriage ; NGS ; ESRRB ; ARNSHL ; Iran ; Internal medicine ; RC31-1245 ; Genetics ; QH426-470
    Subject code 616
    Language English
    Publishing date 2022-02-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: Change of epigenetic modification and human reproduction

    Jafar Nouri Nojadeh / Hossein Daghghagh

    Asian Pacific Journal of Reproduction, Vol 5, Iss 1, Pp 10-

    2016  Volume 13

    Abstract: In recent years, it has become consumedly clear that changing of epigenetic modification is essential during both early and late oogenesis and spermatogenesis. Also epigenetic modifications are involved in some cases such as embryo development and growth, ...

    Abstract In recent years, it has become consumedly clear that changing of epigenetic modification is essential during both early and late oogenesis and spermatogenesis. Also epigenetic modifications are involved in some cases such as embryo development and growth, diseases and responsible for X-chromosome inactivation and genomic imprinting. Epigenetic reprogramming can be explained as any mitotic or meiotic changing which does not result any alteration in DNA sequence but will have important effect on the normal embryonic development. Germline epigenetic reprogramming in addition to requiring epigenetic modification to compose the germline, the primordial germ cells uniquely undergo striking wave of epigenetic reprogramming that most other lineage do not undergo. Epigenetic modification is affected by both internal factors and environmental factors during pre- and post-natal development. Because all of the epigenetic modification steps are not clear, by means of understanding epigenetic modification, misreprogramming of these steps can be modified with the aid of drugs and nutrients. Moreover, epigenetic regulation is essential to obtain the biological intricacy of multicellular organisms, cloning and producing of offspring by assisted reproductive technology (ART). The objective of this review is to provide comprehensive summary of the current knowledge in the field of epigenetic modification in relation to male and female germline development and reproduction.
    Keywords Epigenetic modification ; Germline ; Reprogramming ; Imprinting ; X-chromosome inactivation ; Medicine ; R
    Language English
    Publishing date 2016-03-01T00:00:00Z
    Publisher Wolters Kluwer Medknow Publications
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article ; Online: Homozygous mutation in CSF1R causes brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS)

    Hossein Daghagh / Haniyeh Rahbar Kafshboran / Yousef Daneshmandpour / Maryam Nasiri Aghdam / Shahrzad Talebian / Jafar Nouri Nojadeh / Hamid Hamzeiy / Saskia Biskup / Ebrahim Sakhinia

    BioImpacts, Vol 13, Iss 3, Pp 183-

    2023  Volume 190

    Abstract: Introduction: The CSF1R gene encodes the receptor for colony-stimulating factor-1, the macrophage, and monocyte-specific growth factor. Mutations in this gene cause hereditary diffuse leukoencephalopathy with spheroids (HDLS) with autosomal dominant ... ...

    Abstract Introduction: The CSF1R gene encodes the receptor for colony-stimulating factor-1, the macrophage, and monocyte-specific growth factor. Mutations in this gene cause hereditary diffuse leukoencephalopathy with spheroids (HDLS) with autosomal dominant inheritance and BANDDOS (Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis) with autosomal recessive inheritance. Methods: Targeted gene sequencing was performed on the genomic DNA samples of the deceased patient and a fetus along with ten healthy members of his family to identify the disease-causing mutation. Bioinformatics tools were used to study the mutation effect on protein function and structure. To predict the effect of the mutation on the protein, various bioinformatics tools were applied. Results: A novel homozygous variant was identified in the gene CSF1R, c.2498C>T; p.T833M in exon 19, in the index patient and the fetus. Furthermore, some family members were heterozygous for this variant, while they had not any symptoms of the disease. In silico analysis indicated this variant has a detrimental effect on CSF1R. It is conserved among humans and other similar species. The variant is located within the functionally essential PTK domain of the receptor. However, no structural damage was introduced by this substitution. Conclusion: In conclusion, regarding the inheritance pattern in the family and clinical manifestations in the index patient, we propose that the mentioned variant in the CSF1R gene may cause BANDDOS.
    Keywords banddos ; csf1r ; next generation sequencing ; mutation ; Medicine (General) ; R5-920 ; Biology (General) ; QH301-705.5
    Subject code 616
    Language English
    Publishing date 2023-05-01T00:00:00Z
    Publisher Tabriz University of Medical Sciences
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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