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Article: CRISPR/Cas9 genome editing for neurodegenerative diseases.

Nouri Nojadeh, Jafar / Bildiren Eryilmaz, Nur Seren / Ergüder, Berrin Imge

EXCLI journal

2023 Volume 22, Page(s) 567–582

Abstract: Gene therapy has emerged as a promising therapeutic strategy for various conditions, including blood disorders, ocular disease, cancer, and nervous system disorders. The advent of gene editing techniques has facilitated the ability of researchers to ... ...

Abstract	Gene therapy has emerged as a promising therapeutic strategy for various conditions, including blood disorders, ocular disease, cancer, and nervous system disorders. The advent of gene editing techniques has facilitated the ability of researchers to specifically target and modify the eukaryotic cell genome, making it a valuable tool for gene therapy. This can be performed through either
Language	English
Publishing date	2023-07-03
Publishing country	Germany
Document type	Journal Article ; Review
ISSN	1611-2156
ISSN	1611-2156
DOI	10.17179/excli2023-6155
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Article ; Online: B-cell maturation antigen targeting strategies in multiple myeloma treatment, advantages and disadvantages.

Nobari, Shirin Teymouri / Nojadeh, Jafar Nouri / Talebi, Mehdi

Journal of translational medicine

2022 Volume 20, Issue 1, Page(s) 82

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 ... ...

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.
MeSH term(s)	B-Cell Maturation Antigen/metabolism ; B-Cell Maturation Antigen/therapeutic use ; Humans ; Immunotherapy ; Immunotherapy, Adoptive/methods ; Multiple Myeloma/drug therapy ; Plasma Cells/pathology
Chemical Substances	B-Cell Maturation Antigen
Language	English
Publishing date	2022-02-10
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2118570-0
ISSN	1479-5876 ; 1479-5876
ISSN (online)	1479-5876
ISSN	1479-5876
DOI	10.1186/s12967-022-03285-y
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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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Article ; Online: A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case.

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

BMC medical genomics

2022 Volume 15, Issue 1, Page(s) 18

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 ... ...

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.
MeSH term(s)	Connexins/genetics ; Deafness/genetics ; Female ; Hearing Loss/genetics ; Hearing Loss, Sensorineural/genetics ; Humans ; Iran ; Male ; Mutation ; Mutation, Missense ; Pedigree ; Receptors, Estrogen
Chemical Substances	Connexins ; ESRRB protein, human ; Receptors, Estrogen
Language	English
Publishing date	2022-02-01
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2411865-5
ISSN	1755-8794 ; 1755-8794
ISSN (online)	1755-8794
ISSN	1755-8794
DOI	10.1186/s12920-022-01165-4
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Article: Homozygous mutation in

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

BioImpacts : BI

2022 Volume 13, Issue 3, Page(s) 183–190

Language	English
Publishing date	2022-11-26
Publishing country	Iran
Document type	Journal Article
ZDB-ID	2604624-6
ISSN	2228-5660 ; 2228-5652
ISSN (online)	2228-5660
ISSN	2228-5652
DOI	10.34172/bi.2022.23528
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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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Article: Microsatellite instability in colorectal cancer.

Nojadeh, Jafar Nouri / Behrouz Sharif, Shahin / Sakhinia, Ebrahim

EXCLI journal

2018 Volume 17, Page(s) 159–168

Abstract: Colorectal cancer (CRC) is a heterogeneous disease that is caused by the interaction of genetic and environmental factors. Although it is one of the most common cancers worldwide, CRC would be one of the most curable cancers if it is detected in the ... ...

Abstract	Colorectal cancer (CRC) is a heterogeneous disease that is caused by the interaction of genetic and environmental factors. Although it is one of the most common cancers worldwide, CRC would be one of the most curable cancers if it is detected in the early stages. Molecular changes that occur in colorectal cancer may be categorized into three main groups: 1) Chromosomal Instability (CIN), 2) Microsatellite Instability (MSI), and 3) CpG Island Methylator phenotype (CIMP). Microsatellites, also known as Short Tandem Repeats (STRs) are small (1-6 base pairs) repeating stretches of DNA scattered throughout the entire genome and account for approximately 3 % of the human genome. Due to their repeated structure, microsatellites are prone to high mutation rate. Microsatellite instability (MSI) is a unique molecular alteration and hyper-mutable phenotype, which is the result of a defective DNA mismatch repair (MMR) system, and can be defined as the presence of alternate sized repetitive DNA sequences which are not present in the corresponding germ line DNA. The presence of MSI is found in sporadic colon, gastric, sporadic endometrial and the majority of other cancers. Approximately, 15-20 % of colorectal cancers display MSI. Determination of MSI status in CRC has prognostic and therapeutic implications. As well, detecting MSI is used diagnostically for tumor detection and classification. For these reasons, microsatellite instability analysis is becoming more and more important in colorectal cancer patients. The objective of this review is to provide the comprehensive summary of the update knowledge of colorectal cancer classification and diagnostic features of microsatellite instability.
Language	English
Publishing date	2018-01-22
Publishing country	Germany
Document type	Journal Article ; Review
ISSN	1611-2156
ISSN	1611-2156
DOI	10.17179/excli2017-948
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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
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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
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Article: Evaluation of microsatellite instability in tumor and tumor marginal samples of sporadic colorectal cancer using mononucleotide markers.

Nouri Nojadeh, Jafar / Hashemzadeh, Shahriar / Samadi Kafil, Hossein / Behrouz Sharif, Shahin / Eftekharsadat, Amirtaher / Ghasemnejad, Tohid / Ghojazadeh, Mortaza / Sakhinia, Ebrahim

EXCLI journal

2018 Volume 17, Page(s) 945–951

Abstract: Microsatellite instability (MSI) is a unique molecular alteration that is due to a defective DNA mismatch repair (MMR) system. Approximately, 15-20 % of sporadic colorectal cancers (CRC) display MSI. Determination of MSI status in CRC has prognostic and ... ...

Abstract	Microsatellite instability (MSI) is a unique molecular alteration that is due to a defective DNA mismatch repair (MMR) system. Approximately, 15-20 % of sporadic colorectal cancers (CRC) display MSI. Determination of MSI status in CRC has prognostic and predictive implications. Additionally, detecting MSI is used diagnostically for tumor detection and classification. The present study analyzed a panel of five mononucleotide markers, BAT-25, BAT-26, NR-21, NR-22 and NR-27, amplified in a single multiplex PCR reaction to evaluate MSI status in CRC patients. Genomic DNA from 50 CRC and paired adjacent normal tissues was used for PCR-based MSI analysis. Our finding showed microsatellite instability in 36 % of specimens. Instability with differences in allele lengths was observed in the tumoral DNA compared to the tumor-free margin DNA sample. The frequency of instability in NR-21, BAT-26 and BAT-25 markers were more than others; their frequency were 35.48 %, 29.03 %, and 22.58 %, respectively. In conclusion, the NR-21, BAT-26, and BAT-25 were the most useful markers for discriminating cancer tissue from normal, therefore these markers have demonstrated promising potential for determining MSI status in patients with sporadic colorectal cancer.
Language	English
Publishing date	2018-09-24
Publishing country	Germany
Document type	Journal Article
ISSN	1611-2156
ISSN	1611-2156
DOI	10.17179/excli2018-1455
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