keyword
https://read.qxmd.com/read/36473692/expression-purification-and-study-on-the-efficiency-of-a-new-potent-recombinant-scfv-antibody-against-the-sars-cov-2-spike-rbd-in-e-coli-bl21
#21
JOURNAL ARTICLE
Fatemeh Yaghoobizadeh, Mohammad Roayaei Ardakani, Mohammad Mehdi Ranjbar, Hamid Galehdari, Mohammad Khosravi
Many efforts have been made around the world to combat SARS-CoV-2. Among these are recombinant antibodies considered to be suitable as an alternative for some diagnostics/therapeutics. Based on their importance, this study aimed to investigate the expression, purification, and efficiency of a new potent recombinant scFv in the E. coli BL21 (DE3) system. The expression studies were performed after confirming the scFv cloning into the pET28a vector using specific PCRs. After comprehensive expression studies, a suitable strategy was adopted to extract and purify periplasmic proteins using Ni2+ -NTA resin...
March 2023: Protein Expression and Purification
https://read.qxmd.com/read/36457880/the-effect-of-sialic-acid-on-mir-320a-and-let-7e-expression-in-human-glial-cell-line
#22
JOURNAL ARTICLE
Negar Noorbakhsh, Hamid Galehdari, Mohammad Shafiei
INTRODUCTION: Sialic acid is pivotal in various critical physiological events at molecular and cellular levels and pathological processes. Changes in sialic acid concentration are observed in many pathological processes; for example, some available data exist on the evaluated level of sialic acid and neurodegenerative prevalence. Presumably, sialic acid can play a significant role in regulating a diverse range of uncovered neurodegeneration factors and downstream targets. matrix metalloproteinases 9 (MMP9) is one factor that changes the exposure of different concentrations of sialic acid solution...
2022: Basic and Clinical Neuroscience
https://read.qxmd.com/read/36371792/putative-founder-effect-of-arg338-ap4m1-spg50-variant-causing-severe-intellectual-disability-epilepsy-and-spastic-paraplegia-report-of-three-families
#23
JOURNAL ARTICLE
Aurélie Becker, Charlotte Felici, Laëtitia Lambert, Anne de Saint Martin, Marie-Thérèse Abi-Warde, Elise Schaefer, Christian Zix, Mina Zamani, Saeid Sadeghian, Jawaher Zeighami, Tahereh Seifi, Reza Azizimalamiri, Gholamreza Shariati, Hamid Galehdari, Mareike Selig, Can Ding, Sarah Duerinckx, Isabelle Pirson, Marc Abramowicz, Guillemette Clément, Bruno Leheup, Philippe Jonveaux, Geneviève Lefort, Myriam Bronner, Mathilde Renaud, Céline Bonnet
Bi-allelic variants affecting one of the four genes encoding the AP4 subunits are responsible for the "AP4 deficiency syndrome." Core features include hypotonia that progresses to hypertonia and spastic paraplegia, intellectual disability, postnatal microcephaly, epilepsy, and neuroimaging features. Namely, AP4M1 (SPG50) is involved in autosomal recessive spastic paraplegia 50 (MIM#612936). We report on three patients with core features from three unrelated consanguineous families originating from the Middle East...
March 2023: Clinical Genetics
https://read.qxmd.com/read/36318270/brain-monoamine-vesicular-transport-disease-caused-by-homozygous-slc18a2-variants-a-study-in-42-affected-individuals
#24
JOURNAL ARTICLE
Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T Pagnamenta, Dana Marafi, Maha S Zaki, Thomas J O'Brien, Ehsan Ghayoor Karimiani, Rauan Kaiyrzhanov, Marina Takizawa, Sachiko Ohori, Huey Yin Leong, Gulsen Akay, Hamid Galehdari, Mina Zamani, Ratna Romy, Christopher J Carroll, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Hadis Malek, Najmeh Ahangari, Hoda Tomoum, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, David Murphy, Natalia Dominik, Hasnaa M Elbendary, Karima Rafat, Sanem Yilmaz, Seda Kanmaz, Mine Serin, Deepa Krishnakumar, Alice Gardham, Anna Maw, Tekki Sreenivasa Rao, Sarah Alsubhi, Myriam Srour, Daniela Buhas, Tamison Jewett, Rachel E Goldberg, Hanan Shamseldin, Eirik Frengen, Doriana Misceo, Petter Strømme, José Ricardo Magliocco Ceroni, Chong Ae Kim, Gozde Yesil, Esma Sengenc, Serhat Guler, Mariam Hull, Mered Parnes, Dilek Aktas, Banu Anlar, Yavuz Bayram, Davut Pehlivan, Jennifer E Posey, Shahryar Alavi, Seyed Ali Madani Manshadi, Hamad Alzaidan, Mohammad Al-Owain, Lama Alabdi, Ferdous Abdulwahab, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Yuri Uchiyama, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Reem M Elshafie, Kamran Salayev, Ulviyya Guliyeva, Fowzan S Alkuraya, Joseph G Gleeson, Kristin G Monaghan, Katherine G Langley, Hui Yang, Mahsa Motavaf, Saeid Safari, Mozhgan Alipour, Kazuhiro Ogata, André E X Brown, James R Lupski, Henry Houlden, Naomichi Matsumoto
PURPOSE: Brain monoamine vesicular transport disease is an infantile-onset movement disorder that mimics cerebral palsy. In 2013, the homozygous SLC18A2 variant, p.Pro387Leu, was first reported as a cause of this rare disorder, and dopamine agonists were efficient for treating affected individuals from a single large family. To date, only 6 variants have been reported. In this study, we evaluated genotype-phenotype correlations in individuals with biallelic SLC18A2 variants. METHODS: A total of 42 affected individuals with homozygous SLC18A2 variant alleles were identified...
October 31, 2022: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/36258762/pemphigus-vegetans-misdiagnosed-as-condylomata-acuminata-a-case-report
#25
Amir Hossein Siadat, Reza Moeine, Fariba Iraji, Hamid Galehdari, Reza Shahriarirad
Pemphigus vegetans is a rare variant of pemphigus vulgaris, characterized by vegetating lesions primarily in the flexures. A 41-year-old male patient presented with pemphigus vegetans highly mimicking condylomata acuminata, which led to mistreatment. Careful analysis of clinical and laboratory findings enabled us to reach a correct diagnosis and successful treatment.
October 2022: Clinical Case Reports
https://read.qxmd.com/read/36256512/phenotypic-continuum-of-nfu1-related-disorders
#26
JOURNAL ARTICLE
Rauan Kaiyrzhanov, Maha S Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M Khalaf, Mohamed S Abdel-Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M Elbendary, Garry Brown, Robert W Taylor, Hamid Galehdari, Joseph J Gleeson, Christopher J Carroll, James A Cowan, Andres Moreno-De-Luca, Henry Houlden, Reza Maroofian
Bi-allelic variants in Iron-Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early-onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra-rare bi-allelic NFU1 missense variants associated with a spectrum of early-onset pure to complex hereditary spastic paraplegia (HSP) phenotype with a longer survival (16/19) on one end and neurodevelopmental delay with severe hypotonia (3/19) on the other...
October 18, 2022: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/36187736/a-prospective-study-to-evaluate-the-gender-prediction-of-blastocysts-by-using-cell-free-dna-within-a-culture-medium
#27
JOURNAL ARTICLE
Somayeh Barzanouni, Farideh Moramezi, Mahvash Zargar, Hamid Galehdari, Masoud Hemadi
Background: Preimplantation genetic diagnosis (PGD) has been used as an option for couples with the possibility of having a baby with a genetic disorder. The common method for performing this test involves isolating 1 cell from day 3 or a few cells from day 5 embryos and performing genetic studies on the cell-extracted DNA. This method is invasive and can cause abortion after implantation in the uterus. Because of this, 2 noninvasive methods for performing a PGD have been studied: PGD using blastocyst fluid and PGD using embryo culture medium...
July 2022: International Journal of Reproductive Biomedicine (Yazd, Iran)
https://read.qxmd.com/read/36052265/-casc11-and-pvt1-spliced-transcripts-play-an-oncogenic-role-in-colorectal-carcinogenesis
#28
JOURNAL ARTICLE
Mina Zamani, Ali-Mohammad Foroughmand, Mohammad-Reza Hajjari, Babak Bakhshinejad, Rory Johnson, Hamid Galehdari
Cancer is fundamentally a genetic disorder that alters cellular information flow toward aberrant growth. The coding part accounts for less than 2% of the human genome, and it has become apparent that aberrations within the noncoding genome drive important cancer phenotypes. The numerous carcinogenesis-related genomic variations in the 8q24 region include single nucleotide variations (SNVs), copy number variations (CNVs), and viral integrations occur in the neighboring areas of the MYC locus. It seems that MYC is not the only target of these alterations...
2022: Frontiers in Oncology
https://read.qxmd.com/read/35943011/hb-narges-lab-a-novel-hemoglobin-variant-of-the-%C3%AE-globin-gene
#29
JOURNAL ARTICLE
Mohammad Hamid, Zahra Shahbazi, Bijan Keikhaei, Hamid Galehdari, Alihossein Saberi, Alireza Sedaghat, Gholamreza Shariati, Marziye Mohammadi-Anaei
In this study, we describe a new missense variant on the β-globin gene in a heterozygous form in a female individual. Standard methods were used to determine red blood cell indices and perform hemoglobin analyses. Molecular studies were performed on the genomic DNA isolated from peripheral blood cells. Beta-globin genes were amplified and sequenced. We report a novel mutation on the β-globin gene (HBB), c.134 C>T; p.S44F variant, in the heterozygote state which was detected in a female of Persian ethnic origin in the Khuzestan province, southern Iran, that we named Hb Narges Lab (HbNL) variant...
May 1, 2022: Archives of Iranian Medicine
https://read.qxmd.com/read/35844714/alpha-globin-gene-triplication-and-its-effect-in-beta-thalassemia-carrier-sickle-cell-trait-and-healthy-individual
#30
JOURNAL ARTICLE
Mohammad Hamid, Bijan Keikhaei, Hamid Galehdari, Alihossein Saberi, Alireza Sedaghat, Gholamreza Shariati, Marziye Mohammadi-Anaei
The genotype and phenotype correlation between coinheritance of heterozygous beta-thalassemia with the alpha-globin triplication is unclear. In this study we have investigated and reviewed alpha triplication frequency in beta-thalassemia carriers, sickle cell trait, and healthy individuals and its effect on hematological and phenotypical changes. In this study, 4005 beta-thalassemia carriers, 455 sickle cell trait, and 2000 healthy individuals were included. Molecular characterization of beta and alpha-thalassemia was performed...
August 2021: EJHaem
https://read.qxmd.com/read/35754085/whole-exome-sequencing-deciphers-the-genetic-profile-of-visual-impairments-in-patients-from-southwest-iran
#31
JOURNAL ARTICLE
Mina Zamani, Sahar Sedighzadeh, Tahereh Seifi, Samira Negahdari, Jawaher Zeighami, Alireza Sedaghat, Gholamreza Shariati, Hamid Galehdari
Genetic ocular diseases are heterogeneous disorders. Recent advances have led to a paradigm shift in the discovery of eye disease-associated genetic variants from linkage and genome-wide association studies to next-generation sequencing-based genome studies. The aim of the current study was to investigate the spectrum of possible vision impairment-related variants in 66 Iranian patients. Whole-exome sequencing (WES) technology followed by bioinformatics analysis, Sanger validation, and co-segregation study were done to find eye disease-causing variants in the patients with vision impairments from Southwest Iran...
June 26, 2022: Molecular Genetics and Genomics: MGG
https://read.qxmd.com/read/35611258/natural-adjuvants-pc-and-g2-induce-activated-natural-killer-cells-with-nkg2d-expression-and-cytotoxic-properties-in-colorectal-cancer
#32
JOURNAL ARTICLE
Ali Khodadadi, Abdolhassan Talaiezadeh, Yuji Heike, Hamid Galehdari, Mojtaba Oraki Kohshour, Abdolkarim Sheikhi, Seyed Nematollah Jazayeri, Mohammad Pedram, Mehrdad Borhani, Ali Asadirad
Aim: This study aimed to investigate the effects of natural adjuvants ( G2  and  PC ) to activate natural killer cells in colorectal cancer. Background: Natural killer (NK) cells are an element of the innate immune system that can recognize and kill cancer cells and provide hope for cancer therapy. One of the current methods in cancer immunotherapy is NK cell therapy. Immunotherapy with NK cells has been limited because of the low number and cytotoxicity level of NK cells...
2022: Gastroenterology and Hepatology From Bed to Bench
https://read.qxmd.com/read/35373060/whole-exome-sequencing-application-for-genetic-diagnosis-of-kidney-diseases-a-study-from-southwest-of-iran
#33
JOURNAL ARTICLE
Mina Zamani, Tahereh Seifi, Sahar Sedighzadeh, Samira Negahdari, Jawaher Zeighami, Alireza Sedaghat, Tahereh Yadegari, Alihossein Saberi, Mohammad Hamid, Gholamreza Shariati, Hamid Galehdari
No abstract text is available yet for this article.
May 27, 2021: Kidney360
https://read.qxmd.com/read/35319015/genotype-phenotype-correlation-in-patients-with-deletional-and-nondeletional-mutations-of-hb-h-disease-in-southwest-of-iran
#34
JOURNAL ARTICLE
Mohammad Hamid, Bijan Keikhaei, Hamid Galehdari, Alihossein Saberi, Alireza Sedaghat, Gholamreza Shariati, Marziye Mohammadi-Anaei
We studied the alpha-globin gene genotypes, hematologic values, and transfusion-dependence of patients with Hb H disease. Molecular characterization of alpha-thalassemia was performed. We identified 120 patients with Hb H disease. Of these patients, 35 (29.16%) had deletional form of Hb H disease, and 85 (70.83%) had different form of non-deletional Hb H disease. The most frequently observed Hb H genotypes were --Med /-α3.7 in 33 patients (27.5%), αCD19(-G) α/αCD19(-G) α in 25 cases (20.83%), αpolyA2 α/αpolyA2 α in 15 (12...
March 22, 2022: Scientific Reports
https://read.qxmd.com/read/34716539/correction-to-sperm-mir-34c-5p-transcript-content-and-its-association-with-sperm-parameters-in-unexplained-infertile-men
#35
Mehran Dorostghoal, Hamid Galehdari, Masoud Hemadi, Elahe Davoodi
No abstract text is available yet for this article.
October 29, 2021: Reproductive Sciences
https://read.qxmd.com/read/34494232/spearm-mir-34c-5p-transcript-content-and-its-association-with-sperm-parameters-in-unexplained-infertile-men
#36
JOURNAL ARTICLE
Mehran Dorostghoal, Hamid Galehdari, Masoud Hemadi, Elahe Davoodi
MicroRNAs (miRNAs) play an essential role in regulatory functions during gametogenesis. There is evidence that dysregulation of miR-34c-5p is implicated in the pathogenesis of male infertility. Whether miR-34c-5p expression could represent the semen quality and be useful in prediction of the fertilizing ability in normozoospermic men was examined in this study. Normozoospermic infertile patients (n = 15) and fertile men (n = 15) were recruited from the Infertility Clinic of Ahvaz, Iran. Sperm contents of miR-34c-5p transcript in were assessed using real-time polymerase chain reaction...
September 7, 2021: Reproductive Sciences
https://read.qxmd.com/read/34484761/successful-treatment-of-becker-s-nevus-with-dermabrasion-by-sandpaper-a-case-report
#37
Hossein Hafezi, Hamid Galehdari, Mina Rezaie, Reza Moeini
Lasers have been widely used for treatment of Becker nevus. Here, we report a case of Becker nevus which did not respond to laser therapy and was treated successfully by dermabrasion with sandpaper with no following complications.
September 2021: Clinical Case Reports
https://read.qxmd.com/read/34480721/the-effect-of-verapamil-on-txnip-gene-expression-glp1r-mrna-fbs-hba1c-and-lipid-profile-in-t2dm-patients-receiving-metformin-and-sitagliptin
#38
JOURNAL ARTICLE
Alireza Malayeri, Mehrnoosh Zakerkish, Farrokh Ramesh, Hamid Galehdari, Ali Asghar Hemmati, Kambiz A Angali
INTRODUCTION: Type 2 diabetes mellitus (T2DM) is the most common type of diabetes. A decrease in the number of pancreatic beta cells is a pathological sign of diabetes, and to date there is no drug treatment that targets damage to these cells. Pancreatic beta cells have a weak antioxidant system and are highly sensitive to oxidative stress reactions that occur within cells. Thioredoxin interacting protein (TXNIP) inhibits thioredoxin, which is part of the intracellular antioxidant system, thereby accelerating oxidative stress and apoptosis of pancreatic beta cells...
September 4, 2021: Diabetes Therapy: Research, Treatment and Education of Diabetes and related Disorders
https://read.qxmd.com/read/34345025/delineating-the-molecular-and-phenotypic-spectrum-of-the-setd1b-related-syndrome
#39
JOURNAL ARTICLE
Marjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J Cardona-Londoño, Karla A Peña-Guerra, Yolande van Bever, Barbara W van Paassen, Anneke Kievit, Marjon van Slegtenhorst, Nicholas M Allen, Caroline M Kehoe, Hannah K Robinson, Lewis Pang, Selina H Banu, Mashaya Zaman, Stephanie Efthymiou, Henry Houlden, Irma Järvelä, Leena Lauronen, Tuomo Määttä, Isabelle Schrauwen, Suzanne M Leal, Claudia A L Ruivenkamp, Daniela Q C M Barge-Schaapveld, Cacha M P C D Peeters-Scholte, Hamid Galehdari, Neda Mazaheri, Sanjay M Sisodiya, Victoria Harrison, Angela Sun, Jenny Thies, Luis Alberto Pedroza, Yana Lara-Taranchenko, Ivan K Chinn, James R Lupski, Alexandra Garza-Flores, Jeffery McGlothlin, Lin Yang, Shaoping Huang, Xiaodong Wang, Tamison Jewett, Gretchen Rosso, Xi Lin, Shehla Mohammed, J Lawrence Merritt, Ghayda M Mirzaa, Andrew E Timms, Joshua Scheck, Mariet W Elting, Abeltje M Polstra, Lauren Schenck, Maura R Z Ruzhnikov, Annalisa Vetro, Martino Montomoli, Renzo Guerrini, Daniel C Koboldt, Theresa Mihalic Mosher, Matthew T Pastore, Kim L McBride, Jing Peng, Zou Pan, Marjolein Willemsen, Susanne Koning, Peter D Turnpenny, Bert B A de Vries, Christian Gilissen, Rolph Pfundt, Melissa Lees, Stephen R Braddock, Kara C Klemp, Fleur Vansenne, Marielle E van Gijn, Catherine Quindipan, Matthew A Deardorff, J Austin Hamm, Abbey M Putnam, Rebecca Baud, Laurence Walsh, Sally A Lynch, Julia Baptista, Richard E Person, Kristin G Monaghan, Amy Crunk, Jennifer Keller-Ramey, Adi Reich, Houda Zghal Elloumi, Marielle Alders, Jennifer Kerkhof, Haley McConkey, Sadegheh Haghshenas, Reza Maroofian, Bekim Sadikovic, Siddharth Banka, Stefan T Arold, Tahsin Stefan Barakat
PURPOSE: Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features have been described for 11 patients with (likely) pathogenic SETD1B sequence variants. This study aims to further delineate the spectrum of the SETD1B-related syndrome based on characterizing an expanded patient cohort. METHODS: We perform an in-depth clinical characterization of a cohort of 36 unpublished individuals with SETD1B sequence variants, describing their molecular and phenotypic spectrum...
November 2021: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/34306683/pustular-psoriasis-of-pregnancy-in-early-first-trimester-a-case-report
#40
Fatemeh Mohaghegh, Hamid Galehdari, Mina Rezaie
Pustular psoriasis of pregnancy is a rare skin condition which mostly affects women in the third trimester and is sometimes followed by adverse outcomes for the mother and the fetus.
July 2021: Clinical Case Reports
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