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331 results on '"Mojarrad, Majid"'

5. Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Author

Accogli, Andrea, Zaki, Maha S, Al-Owain, Mohammed, Otaif, Mansour Y, Jackson, Adam, Argilli, Emanuela, Chandler, Kate E, De Goede, Christian GEL, Cora, Tülün, Alvi, Javeria Raza, Eslahi, Atieh, Asl Mohajeri, Mahsa Sadat, Ashtiani, Setareh, Au, PY Billie, Scocchia, Alicia, Alakurtti, Kirsi, Pagnamenta, Alistair T, Toosi, Mehran Beiraghi, Ghayoor Karimiani, Ehsan, Mojarrad, Majid, Arab, Fatemeh, Duymuş, Fahrettin, Scantlebury, Morris H, Yeşil, Gözde, Rosenfeld, Jill Anne, Türkyılmaz, Ayberk, Sağer, Safiye Güneş, Sultan, Tipu, Ashrafzadeh, Farah, Zahra, Tatheer, Rahman, Fatima, Maqbool, Shazia, Abdel-Hamid, Mohamed S, Issa, Mahmoud, Efthymiou, Stephanie, Bauer, Peter, Zifarelli, Giovanni, Salpietro, Vincenzo, Al-Hassnan, Zuhair, Banka, Siddharth, Sherr, Elliot H, Gleeson, Joseph G, Striano, Pasquale, Houlden, Henry, Severino, Mariasavina, and Maroofian, Reza

Subjects
Pediatric, Neurosciences, Genetics, Neurodegenerative, Clinical Research, Congenital Structural Anomalies, Brain Disorders, Rare Diseases, Human Genome, Epilepsy, 2.1 Biological and endogenous factors, Aetiology, Mental health, Neurological, Clinical sciences, Biological psychology
Abstract

Abstract: LNPK encodes a conserved membrane protein that stabilizes the junctions of the tubular endoplasmic reticulum network playing crucial roles in diverse biological functions. Recently, homozygous variants in LNPK were shown to cause a neurodevelopmental disorder (OMIM#618090) in four patients displaying developmental delay, epilepsy, and non-specific brain malformations including corpus callosum hypoplasia and variable impairment of cerebellum. We sought to delineate the molecular and phenotypic spectrum of LNPK-related disorder. Exome or genome sequencing was carried out in eleven families. Thorough clinical and neuroradiological evaluation was performed for all the affected individuals, including review of previously reported patients. We identified twelve distinct homozygous loss-of-function variants in sixteen individuals presenting with moderate to profound developmental delay, cognitive impairment, regression, refractory epilepsy and a recognizable neuroimaging pattern consisting of corpus callosum hypoplasia and signal alterations of the forceps minor (“ear-of-the-lynx” sign), variably associated with substantia nigra signal alterations, mild brain atrophy, short midbrain, and cerebellar hypoplasia/atrophy. In summary, we define the core phenotype of LNPK-related disorder and expand the list of neurological disorders presenting with the “ear of the lynx” sign suggesting a possible common underlying mechanism related to endoplasmic reticulum-phagy dysfunction.

Published
2023

10. Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

Author

Sczakiel, Henrike L., Zhao, Max, Wollert-Wulf, Brigitte, Danyel, Magdalena, Ehmke, Nadja, Stoltenburg, Corinna, Damseh, Nadirah, Al-Ashhab, Motee, Balci, Tugce B., Osmond, Matthew, Andrade, Andrea, Schallner, Jens, Porrmann, Joseph, McDonald, Kimberly, Liao, Mingjuan, Oppermann, Henry, Platzer, Konrad, Dierksen, Nadine, Mojarrad, Majid, Eslahi, Atieh, Bakaeean, Behnaz, Calame, Daniel G., Lupski, James R., Firoozfar, Zahra, Seyedhassani, Seyed Mohammad, Mohammadi, Seyed Ahmad, Anwaar, Najwa, Rahman, Fatima, Seelow, Dominik, Janz, Martin, Horn, Denise, Maroofian, Reza, and Boschann, Felix

Published
2023
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13. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Author

Ghosh, Shereen G, Scala, Marcello, Beetz, Christian, Helman, Guy, Stanley, Valentina, Yang, Xiaoxu, Breuss, Martin W, Mazaheri, Neda, Selim, Laila, Hadipour, Fatemeh, Pais, Lynn, Stutterd, Chloe A, Karageorgou, Vasiliki, Begtrup, Amber, Crunk, Amy, Juusola, Jane, Willaert, Rebecca, Flore, Leigh A, Kennelly, Kelly, Spencer, Christopher, Brown, Martha, Trapane, Pamela, Hurst, Anna CE, Lane Rutledge, S, Goodloe, Dana H, McDonald, Marie T, Shashi, Vandana, Schoch, Kelly, Tomoum, Hoda, Zaitoun, Raghda, Hadipour, Zahra, Galehdari, Hamid, Pagnamenta, Alistair T, Mojarrad, Majid, Sedaghat, Alireza, Dias, Patrícia, Quintas, Sofia, Eslahi, Atiyeh, Shariati, Gholamreza, Bauer, Peter, Simons, Cas, Houlden, Henry, Issa, Mahmoud Y, Zaki, Maha S, Maroofian, Reza, and Gleeson, Joseph G

Subjects
Biological Sciences, Genetics, Brain Disorders, Rare Diseases, Clinical Research, Neurosciences, Human Genome, Pediatric, Neurodegenerative, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Aetiology, Child, Child, Preschool, Codon, Nonsense, Exome, Exons, Female, Homozygote, Humans, Male, Microcephaly, Nerve Tissue Proteins, Neurodevelopmental Disorders, Pedigree, RNA Splice Sites, RNA Splicing, Syndrome, Vesicular Transport Proteins, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

Trafficking protein particle (TRAPP) complexes, which include the TRAPPC4 protein, regulate membrane trafficking between lipid organelles in a process termed vesicular tethering. TRAPPC4 was recently implicated in a recessive neurodevelopmental condition in four unrelated families due to a shared c.454+3A>G splice variant. Here, we report 23 patients from 17 independent families with an early-infantile-onset neurodegenerative presentation, where we also identified the homozygous variant hg38:11:119020256 A>G (NM_016146.5:c.454+3A>G) in TRAPPC4 through exome or genome sequencing. No other clinically relevant TRAPPC4 variants were identified among any of over 10,000 patients with neurodevelopmental conditions. We found the carrier frequency of TRAPPC4 c.454+3A>G was 2.4-5.4 per 10,000 healthy individuals. Affected individuals with the homozygous TRAPPC4 c.454+3A>G variant showed profound psychomotor delay, developmental regression, early-onset epilepsy, microcephaly and progressive spastic tetraplegia. Based upon RNA sequencing, the variant resulted in partial exon 3 skipping and generation of an aberrant transcript owing to use of a downstream cryptic splice donor site, predicting a premature stop codon and nonsense mediated decay. These data confirm the pathogenicity of the TRAPPC4 c.454+3A>G variant, and refine the clinical presentation of TRAPPC4-related encephalopathy.

Published
2021

17. Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis.

Author

Alerasool, Masoome, Eslahi, Atieh, Vona, Barbara, Kahaei, Mir Salar, Mojaver, Nasrin Kaseb, Rajati, Mohsen, Pasdar, Alireza, Ghasemi, Mohammad Mehdi, Saburi, Ehsan, Ardehaie, Reza Mousavi, Aval, Majid Hadadi, Tale, Mohammad Reza, Nourizadeh, Navid, Afzalzadeh, Mohammad Reza, Niknezhad, Hamid Tayarani, and Mojarrad, Majid

Subjects
GENETIC profile, IRANIANS, HEARING disorders, GENETIC disorders, PATIENTS' families
Abstract

Hearing loss is one of the most prevalent genetic disorders in humans. Locus and allelic heterogeneity cause fundamental challenges in hearing loss genetic diagnosis and management of patients and their families. This study examined the genetic profile of patients with prelingual hearing loss who were referred to the Genetic Foundation of Khorasan Razavi spanning over a decade. Deleterious variants in GJB2 were evaluated through Sanger sequencing among 745 non‐syndromic hearing loss patients. Furthermore, exome sequencing was applied in 250 patients with negative GJB2 sequencing results and 30 patients with syndromic hearing loss. The findings revealed a relatively low frequency of GJB2 variants among the studied patients. Exome sequencing successfully identified the genetic causes of hearing loss in 70% of the patients. Moreover, variants in 10 genes, namely SLC26A4, MYO15A, TMPRSS3, TMC1, OTOF, CDH23, PJVK, MYO7A, TECTA, and PCDH15, accounted for 66% of the positive exome sequencing findings in this study. At least three prevalent founder alleles in the hearing‐impaired population of eastern Iran were identified. This study emphasizes the efficiency of exome sequencing as a powerful tool for determining the etiology of prelingual hearing loss in the eastern Iranian population. [ABSTRACT FROM AUTHOR]

Published
2024
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21. TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

Author

Van De Weghe, Julie C., Giordano, Jessica L., Mathijssen, Inge B., Mojarrad, Majid, Lugtenberg, Dorien, Miller, Caitlin V., Dempsey, Jennifer C., Mohajeri, Mahsa Sadat Asl, van Leeuwen, Elizabeth, Pajkrt, Eva, Klaver, Caroline C.W., Houlden, Henry, Eslahi, Atieh, Waters, Aoife M., Bamshad, Michael J., Nickerson, Deborah A., Aggarwal, Vimla S., de Vries, Bert B.A., Maroofian, Reza, and Doherty, Dan

Published
2021
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22. Enhancing Temozolomide (TMZ) chemosensitivity using CRISPR-dCas9-mediated downregulation of O6-methylguanine DNA methyltransferase (MGMT).

Author

Yousefi, Yasamin, Nejati, Reza, Eslahi, Atiye, Alizadeh, Farzaneh, Farrokhi, Shima, Asoodeh, Ahmad, and Mojarrad, Majid

Abstract

Purpose: Glioblastoma (GBM) stands out as the most prevalent and aggressive intracranial tumor, notorious for its poor prognosis. The current standard-of-care for GBM patients involves surgical resection followed by radiotherapy, combined with concurrent and adjuvant chemotherapy using Temozolomide (TMZ). The effectiveness of TMZ primarily relies on the activity of O6-methylguanine DNA methyltransferase (MGMT), which removes alkyl adducts from the O6 position of guanine at the DNA level, thereby counteracting the toxic effects of TMZ. Method: In this study, we employed fusions of catalytically-inactive Cas9 (dCas9) to DNA methyltransferases (dCas9-DNMT3A) to selectively downregulation MGMT transcription by inducing methylation at MGMT promoter and K-M enhancer. Result: Our findings demonstrate a significant reduction in MGMT expression, leading to intensified TMZ sensitivity in the HEK293T cell line. Conclusion: This study serves as a proof of concept for the utilization of CRISPR-based gene suppression to overcome TMZ resistance and enhance the lethal effect of TMZ in glioblastoma tumor cells. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

Author

Yan, Denise, Tekin, Demet, Bademci, Guney, Foster, Joseph, Cengiz, F Basak, Kannan-Sundhari, Abhiraami, Guo, Shengru, Mittal, Rahul, Zou, Bing, Grati, Mhamed, Kabahuma, Rosemary I, Kameswaran, Mohan, Lasisi, Taye J, Adedeji, Waheed A, Lasisi, Akeem O, Menendez, Ibis, Herrera, Marianna, Carranza, Claudia, Maroofian, Reza, Crosby, Andrew H, Bensaid, Mariem, Masmoudi, Saber, Behnam, Mahdiyeh, Mojarrad, Majid, Feng, Yong, Duman, Duygu, Mawla, Alex M, Nord, Alex S, Blanton, Susan H, Liu, Xue Z, and Tekin, Mustafa

Subjects
Brain Disorders, Clinical Research, Genetics, 2.1 Biological and endogenous factors, Aetiology, Deafness, Ethnicity, Female, Genetic Testing, Genetics, Population, Humans, Male, Mutation, Usher Syndromes, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity
Abstract

Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is unclear. Until recently, the extensive genetic and clinical heterogeneity of deafness precluded comprehensive genetic analysis. Here, using a custom capture panel (MiamiOtoGenes), we undertook a targeted sequencing of 180 genes in a multi-ethnic cohort of 342 GJB2 mutation-negative deaf probands from South Africa, Nigeria, Tunisia, Turkey, Iran, India, Guatemala, and the United States (South Florida). We detected causative DNA variants in 25 % of multiplex and 7 % of simplex families. The detection rate varied between 0 and 57 % based on ethnicity, with Guatemala and Iran at the lower and higher end of the spectrum, respectively. We detected causative variants within 27 genes without predominant recurring pathogenic variants. The most commonly implicated genes include MYO15A, SLC26A4, USH2A, MYO7A, MYO6, and TRIOBP. Overall, our study highlights the importance of family history and generation of databases for multiple ethnically discrete populations to improve our ability to detect and accurately interpret genetic variants for pathogenicity.

Published
2016

24. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

Author

Perenthaler, Elena, Nikoncuk, Anita, Yousefi, Soheil, Berdowski, Woutje M., Alsagob, Maysoon, Capo, Ivan, van der Linde, Herma C., van den Berg, Paul, Jacobs, Edwin H., Putar, Darija, Ghazvini, Mehrnaz, Aronica, Eleonora, van IJcken, Wilfred F. J., de Valk, Walter G., Medici-van den Herik, Evita, van Slegtenhorst, Marjon, Brick, Lauren, Kozenko, Mariya, Kohler, Jennefer N., Bernstein, Jonathan A., Monaghan, Kristin G., Begtrup, Amber, Torene, Rebecca, Al Futaisi, Amna, Al Murshedi, Fathiya, Mani, Renjith, Al Azri, Faisal, Kamsteeg, Erik-Jan, Mojarrad, Majid, Eslahi, Atieh, Khazaei, Zaynab, Darmiyan, Fateme Massinaei, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Vandrovcova, Jana, Zafar, Faisal, Rana, Nuzhat, Kandaswamy, Krishna K., Hertecant, Jozef, Bauer, Peter, AlMuhaizea, Mohammed A., Salih, Mustafa A., Aldosary, Mazhor, Almass, Rawan, Al-Quait, Laila, Qubbaj, Wafa, Coskun, Serdar, Alahmadi, Khaled O., Hamad, Muddathir H. A., Alwadaee, Salem, Awartani, Khalid, Dababo, Anas M., Almohanna, Futwan, Colak, Dilek, Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Gunel, Murat, Ercan-Sencicek, A. Gulhan, Passi, Gouri Rao, Cheema, Huma Arshad, Efthymiou, Stephanie, Houlden, Henry, Bertoli-Avella, Aida M., Brooks, Alice S., Retterer, Kyle, Maroofian, Reza, Kaya, Namik, van Ham, Tjakko J., and Barakat, Tahsin Stefan

Published
2020
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30. Investigation of genetic variants causing Bardet–Biedl syndrome in Iranian families: Identification of a founder mutation in BBS2, p.T157T

Author

Feizabadi, Masoumeh Heidari, primary, Alerasool, Masoome, additional, Eslahi, Atieh, additional, Esmaeilzadeh, Emran, additional, Mehrjardi, Mohammad Yahya Vahidi, additional, Saket, Mitra, additional, Farokhi, Shima, additional, Fatahi, Zohreh, additional, Khorshid, Hamid Reza Khorram, additional, and Mojarrad, Majid, additional

Published
2023
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39. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

Author

Hannah, Michael G., Bugiardini, Enrico, Bertini, Enrico, Kriouile, Yamna, El-Khorassani, Mohamed, Aguennouz, Mhammed, Groppa, Stanislav, Karashova, Blagovesta M., Goraya, Jatinder S., Sultan, Tipu, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Veggiotti, Pierangelo, Verrotti, Alberto, Lanari, Marcello, Savasta, Salvatore, Macaya, Alfons, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savvas, Vikelis, Michail, Chelban, Viorica, Kaiyrzhanov, Rauan, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Z., Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat N., Atawneh, Osama, Lim, Shen-Yang, Zuccotti, Gian V., Marseglia, Gian L., Esposito, Susanna, Shaikh, Farooq, Cogo, Paola, Corsello, Giovanni, Mangano, Salvatore, Nardello, Rosaria, Mangano, Donato, Scardamaglia, Annarita, Koutsis, George, Scuderi, Carmela, Ferrara, Pietro, Morello, Giovanna, Zollo, Massimo, Berni-Canani, Roberto, Terracciano, Luigi M., Sisto, Antonio, Di Fabio, Sandra, Strano, Federica, Scorrano, Giovanna, Di Bella, Saverio, Di Francesco, Ludovica, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Xiromerisiou, Georgia, Spanaki, Cleanthe, Fiorillo, Chiara, Iacomino, Michele, Gaudio, Eugenio, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Gitto, Eloisa, Iughetti, Lorenzo, Di Rosa, Gabriella, Maghnie, Mohamad, Pettoello-Mantovani, Massimo, Gupta, Neerja, Kabra, Madhulika, Benrhouma, Hanene, Tazir, Meriem, Bottone, Gabriella, Farello, Giovanni, Delvecchio, Maurizio, Di-Donato, Giulio, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W., Miraglia-Del-Giudice, Michele, Maccarone, Rita, Zaki, Maha S., Triki, Chahnez C., Kara, Majdi, Karimiani, Ehsan G., Salih, Ahmed M., Ramenghi, Luca A., Seri, Marco, Di-Falco, Giovanna, Mandarà, Luana, Barrano, Giuseppe, Elisa, Maurizio, Cherubini, Enrico, Operto, Francesca F., Valenzise, Mariella, Cattaneo, Antonino, Zazzeroni, Francesca, Alesse, Edoardo, Matricardi, Sara, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, Ahmed, Muhammad M., Parisi, Pasquale, Spalice, Alberto, De Filippo, Maria, Licari, Amelia, Trebbi, Edoardo, Romano, Ferdinando, Heimer, Gali, Al-Khawaja, Issam, Al-Mutairi, Fuad, Alkuraya, Fowzan S., Rizig, Mie, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Salpietro, Vincenzo, Maroofian, Reza, Wangen, Jamie, Ciolfi, Andrea, Barresi, Sabina, Efthymiou, Stephanie, Lamaze, Angelique, Aughey, Gabriel N., Al Mutairi, Fuad, Rad, Aboulfazl, Rocca, Clarissa, Calì, Elisa, Accogli, Andrea, Zara, Federico, Striano, Pasquale, Mojarrad, Majid, Tariq, Huma, Giacopuzzi, Edoardo, Taylor, Jenny C., Oprea, Gabriela, Skrahina, Volha, Rehman, Khalil Ur, Abd Elmaksoud, Marwa, Bassiony, Mahmoud, El Said, Huda G., Abdel-Hamid, Mohamed S., Al Shalan, Maha, Seo, Gohun, Kim, Sohyun, Lee, Hane, Khang, Rin, Issa, Mahmoud Y., Elbendary, Hasnaa M., Rafat, Karima, Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Ververi, Athina, Sourmpi, Mara, Eslahi, Atieh, Khadivi Zand, Farhad, Beiraghi Toosi, Mehran, Babaei, Meisam, Jackson, Adam, Bertoli-Avella, Aida, Pagnamenta, Alistair T., Niceta, Marcello, Battini, Roberta, Corsello, Antonio, Leoni, Chiara, Chiarelli, Francesco, Dallapiccola, Bruno, Faqeih, Eissa Ali, Tallur, Krishnaraya K., Alfadhel, Majid, Alobeid, Eman, Maddirevula, Sateesh, Mankad, Kshitij, Banka, Siddharth, Ghayoor-Karimiani, Ehsan, Tartaglia, Marco, Chung, Wendy K., Green, Rachel, Jepson, James E.C., and Houlden, Henry

Published
2024
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41. Cardiogenic effects of characterized Geum urbanum extracts on adipose-derived human mesenchymal stem cells

Author

Neshati, Vajiheh, Mollazadeh, Samaneh, Bazzaz, Bibi Sedigheh Fazly, Iranshahi, Mehrdad, Mojarrad, Majid, Naderi-Meshkin, Hojjat, and Kerachian, Mohammad Amin

Subjects
Avens -- Health aspects -- Chemical properties, Heart attack -- Care and treatment, Plant extracts -- Health aspects, Stem cell transplantation -- Methods, Biological sciences
Abstract

Stem cell therapy is considered as a promising treatment for cardiovascular diseases. Adipose-derived mesenchymal stem cells (ADMSCs) have the ability to undergo cardiomyogenesis. Medicinal plants are effective and safe candidates for cell differentiation. Therefore, the aim of our study was to investigate cardiogenic effects of characterized (HPLC-UV) extracts of Geum urbanum on ADMSCs of adipose tissue. The methanolic extracts of the root and aerial parts of G. urbanum were obtained and MTT assay was used for studying their cytotoxic effects. Then, cells were treated with 50 or 100 [micro]g/mL of the extracts from root and aerial parts of G. urbanum. MTT assay showed that the extracts of G. urbanum did not have any toxic effects on ADMSCs. Immunostaining results showed increase in the expression of [alpha]-actinin and cardiac troponin I (cTnI), and quantitative real-time reverse-transcription PCR data confirmed the upregulation of ACTN, ACTC1, and TNNI3 genes in ADMSCs after treatment. According to HPLC fingerprinting, some cardiogenic effects of G. urbanum extracts are probably due to ellagic and gallic acid derivatives. Our findings indicated that G. urbanum extracts effectively upregulated some essential cardiogenic markers, which confirmed the therapeutic role of this plant as a traditional cardiac medicine. Key words: adipose-derived mesenchymal stem cells, cardiogenesis, Geum urbanum. La therapie par cellules souches est consideree comme prometteuse dans les maladies cardiovasculaires. Les cellules souches mesenchymateuses du tissu adipeux (CSMTA) ont la capacite de se differencier en cardiomyocytes. Les plantes medicinales constituent des candidates efficaces et securitaires pour etudier la differenciation cellulaire. En consequence, les auteurs visaient dans cette etude a examiner les effets cardiogeniques d'extraits de Geum urbanum caracterises par HPLC-UV sur la differenciation des CSMTA. Des extraits au methanol de la racine et des parties aeriennes de G. urbanum ont ete obtenus et un dosage par MTT a ete utilise afin d'etudier leurs effets cytotoxiques. Les cellules ont ensuite ete traitees avec 50 et 100 [micro]g/mL d'extraits de racines et des parties aeriennes de G. urbanum. Le dosage par MTT a montre que les extraits de G. urbanum ne presentaient pas d'effets toxiques sur les CSMTA. L'immunocoloration montrait une augmentation de l'expression de l'[alpha]actinine et de la troponine I cardiaque (cTnI), et les donnees obtenues en qRT-PCR en temps reel confirmaient la regulation a la hausse des genes ACTN, ACTC1 et TNNI3 dans les CSMTA apres le traitement. Selon les empreintes par HPLC, certains effets cardiogeniques des extraits de de G. urbanum sont probablement dus a des derives des acides ellagique et gallique. Les resultats des auteurs ont indique que les extraits de G. urbanum etaient efficaces pour reguler positivement certains marqueurs cardiogeniques essentiels, ce qui confirmait que cette plante pourrait exercer un role therapeutique en medecine cardiaque traditionnelle. [Traduit par la Redaction] Mots-cles : cellules souches mesenchymateuses du tissu adipeux, cardiogenese, Geum urbanum., Introduction Myocardial infarction (MI) or heart attack, a leading cause of death worldwide (Carvalho et al. 2013), occurs due to cessation of blood supply to a part of the myocardium, [...]

Published
2018
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45. Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Author

Accogli, Andrea, primary, Zaki, Maha S, additional, Al-Owain, Mohammed, additional, Otaif, Mansour Y, additional, Jackson, Adam, additional, Argilli, Emanuela, additional, Chandler, Kate E, additional, De Goede, Christian G E L, additional, Cora, Tülün, additional, Alvi, Javeria Raza, additional, Eslahi, Atieh, additional, Asl Mohajeri, Mahsa Sadat, additional, Ashtiani, Setareh, additional, Au, P Y Billie, additional, Scocchia, Alicia, additional, Alakurtti, Kirsi, additional, Pagnamenta, Alistair T, additional, Toosi, Mehran Beiraghi, additional, Karimiani, Ehsan Ghayoor, additional, Mojarrad, Majid, additional, Arab, Fatemeh, additional, Duymuş, Fahrettin, additional, Scantlebury, Morris H, additional, Yeşil, Gözde, additional, Rosenfeld, Jill Anne, additional, Türkyılmaz, Ayberk, additional, Sağer, Safiye Güneş, additional, Sultan, Tipu, additional, Ashrafzadeh, Farah, additional, Zahra, Tatheer, additional, Rahman, Fatima, additional, Maqbool, Shazia, additional, Abdel-Hamid, Mohamed S, additional, Issa, Mahmoud Y, additional, Efthymiou, Stephanie, additional, Bauer, Peter, additional, Zifarelli, Giovanni, additional, Salpietro, Vincenzo, additional, Al-Hassnan, Zuhair, additional, Banka, Siddharth, additional, Sherr, Elliot H, additional, Gleeson, Joseph G, additional, Striano, Pasquale, additional, Houlden, Henry, additional, Severino, Mariasavina, additional, and Maroofian, Reza, additional

Published
2023
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49. The worldwide frequency of MYO15A gene mutations in patients with non-syndromic hearing loss: A meta-analysis

Author

Farjami, Mahsa, Assadi, Reza, Afzal Javan, Fahimeh, Alimardani, Malihe, Eslami, Saeid, Mansoori Derakhshan, Sima, Eslahi, Atieh, and Mojarrad, Majid

Subjects
Meta-analysis, Non-syndromic hearing loss, MYO15A, Autosomal recessive, Mutation, otorhinolaryngologic diseases, Prevalence, Review Article, Deafness
Abstract

MYO15A is the third most crucial gene in hereditary sensorineural hearing loss after GJB2 and SLC26A4. In the present study, we reviewed the prevalence of MYO15A mutations in patients with autosomal recessive non-syndromic hearing loss (ARNSHL). In this meta-analysis, we conducted a search of PubMed, Web of Science, Excerpta Medica Database, and Scopus, and identified the articles up to September 2019 without any time limit. Two investigators independently selected the relevant papers and extracted the required information. A total of 44 case-control and case series studies were considered, and 4176 patients and 3706 healthy individuals, as the control group, were included. The pooled frequency of MYO15A mutations between patients suffering from ARNSHL was calculated as 6.2% (95% CI: 4.9-7.8, P-value

Published
2020

50. Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2variants in 15 novel individuals

Author

Sczakiel, Henrike L., Zhao, Max, Wollert-Wulf, Brigitte, Danyel, Magdalena, Ehmke, Nadja, Stoltenburg, Corinna, Damseh, Nadirah, Al-Ashhab, Motee, Balci, Tugce B., Osmond, Matthew, Andrade, Andrea, Schallner, Jens, Porrmann, Joseph, McDonald, Kimberly, Liao, Mingjuan, Oppermann, Henry, Platzer, Konrad, Dierksen, Nadine, Mojarrad, Majid, Eslahi, Atieh, Bakaeean, Behnaz, Calame, Daniel G., Lupski, James R., Firoozfar, Zahra, Seyedhassani, Seyed Mohammad, Mohammadi, Seyed Ahmad, Anwaar, Najwa, Rahman, Fatima, Seelow, Dominik, Janz, Martin, Horn, Denise, Maroofian, Reza, and Boschann, Felix

Abstract

FINCA syndrome [MIM: 618278] is an autosomal recessive multisystem disorder characterized by fibrosis, neurodegeneration and cerebral angiomatosis. To date, 13 patients from nine families with biallelic NHLRC2variants have been published. In all of them, the recurrent missense variant p.(Asp148Tyr) was detected on at least one allele. Common manifestations included lung or muscle fibrosis, respiratory distress, developmental delay, neuromuscular symptoms and seizures often followed by early death due to rapid disease progression.

Published
2023
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