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PIK3CA, a hotspot for postzygotic mutations in nonhereditary overgrowth syndromes.
Published in:
Clinical Genetics, 2012, v. 82, n. 6, p. 523, doi. 10.1111/cge.12001
By:
- Baradaran-Heravi, Alireza
Publication type:
Article
Novel small molecules potentiate premature termination codon readthrough by aminoglycosides.
Published in:
Nucleic Acids Research, 2016, v. 44, n. 14, p. 6583, doi. 10.1093/nar/gkw638
By:
- Baradaran-Heravi, Alireza;
- Balgi, Aruna D.;
- Zimmerman, Carla;
- Kunho Choi;
- Shidmoossavee, Fahimeh S.;
- Tan, Jason S.;
- Bergeaud, Célia;
- Krause, Alexandra;
- Flibotte, Stéphane;
- Yoko Shimizu;
- Anderson, Hilary J.;
- Mouly, Vincent;
- Jan, Eric;
- Pfeifer, Tom;
- Jaquith, James B.;
- Roberge, Michel
Publication type:
Article
Phenotypic Evolution of UNC80 Loss of Function.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3106, doi. 10.1002/ajmg.a.37929
By:
- Valkanas, Elise;
- Schaffer, Katherine;
- Dunham, Christopher;
- Maduro, Valerie;
- du Souich, Christèle;
- Rupps, Rosemarie;
- Adams, David R.;
- Baradaran‐Heravi, Alireza;
- Flynn, Elise;
- Malicdan, May C.;
- Gahl, William A.;
- Toro, Camilo;
- Boerkoel, Cornelius F.
Publication type:
Article
Bone marrow transplantation in Schimke immuno-osseous dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2609, doi. 10.1002/ajmg.a.36111
By:
- Baradaran‐Heravi, Alireza;
- Lange, Jonas;
- Asakura, Yumi;
- Cochat, Pierre;
- Massella, Laura;
- Boerkoel, Cornelius F.
Publication type:
Article
SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2204, doi. 10.1002/ajmg.a.35532
By:
- Baradaran-Heravi, Alireza;
- Raams, Anja;
- Lubieniecka, Joanna;
- Cho, Kyoung Sang;
- DeHaai, Kristi A.;
- Basiratnia, Mitra;
- Mari, Pierre-Olivier;
- Xue, Yutong;
- Rauth, Michael;
- Olney, Ann Haskins;
- Shago, Mary;
- Choi, Kunho;
- Weksberg, Rosanna A.;
- Nowaczyk, Malgorzata J.M.;
- Wang, Weidong;
- Jaspers, Nicolaas G.J.;
- Boerkoel, Cornelius F.
Publication type:
Article
Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasia.
Published in:
Pediatric Transplantation, 2009, v. 13, n. 4, p. 482, doi. 10.1111/j.1399-3046.2008.01013.x
By:
- Lücke, Thomas;
- Kanzelmeyer, Nele;
- Baradaran-Heravi, Alireza;
- Boerkoel, Cornelius F.;
- Burg, Michael;
- Ehrich, Jochen H. H.;
- Pape, Lars
Publication type:
Article
Small molecule Y-320 stimulates ribosome biogenesis, protein synthesis, and aminoglycoside-induced premature termination codon readthrough.
Published in:
PLoS Biology, 2021, v. 19, n. 5, p. 1, doi. 10.1371/journal.pbio.3001221
By:
- Hosseini-Farahabadi, Sara;
- Baradaran-Heravi, Alireza;
- Zimmerman, Carla;
- Choi, Kunho;
- Flibotte, Stephane;
- Roberge, Michel
Publication type:
Article
Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 11, p. 2572, doi. 10.1093/hmg/dds083
By:
- Baradaran-Heravi, Alireza;
- Cho, Kyoung Sang;
- Tolhuis, Bas;
- Sanyal, Mrinmoy;
- Morozova, Olena;
- Morimoto, Marie;
- Elizondo, Leah I.;
- Bridgewater, Darren;
- Lubieniecka, Joanna;
- Beirnes, Kimberly;
- Myung, Clara;
- Leung, Danny;
- Fam, Hok Khim;
- Choi, Kunho;
- Huang, Yan;
- Dionis, Kira Y.;
- Zonana, Jonathan;
- Keller, Kory;
- Stenzel, Peter;
- Mayfield, Christy
Publication type:
Article
Two novel mutations in CYP11B1 and modeling the consequent alterations of the translated protein in classic congenital adrenal hyperplasia patients.
Published in:
Endocrine (1355008X), 2013, v. 44, n. 1, p. 212, doi. 10.1007/s12020-012-9861-2
By:
- Abbaszadegan, Mohammad;
- Hassani, Soolmaz;
- Vakili, Rahim;
- Saberi, Mohammad;
- Baradaran-Heravi, Alireza;
- A'rabi, Azadeh;
- Hashemipour, Mahin;
- Razzaghi-Azar, Maryam;
- Moaven, Omeed;
- Baratian, Ali;
- Ahadian, Mitra;
- Keify, Fatemeh;
- Meurice, Nathalie
Publication type:
Article
Erratum to: Two novel mutations in CYP11B1 and modeling the consequent alterations of the translated protein in classic congenital adrenal hyperplasia patients.
Published in:
2013
By:
- Abbaszadegan, Mohammad;
- Hassani, Soolmaz;
- Vakili, Rahim;
- Saberi, Mohammad;
- Baradaran-Heravi, Alireza;
- A'rabi, Azadeh;
- Hashemipour, Mahin;
- Razzaghi-Azar, Maryam;
- Moaven, Omeed;
- Baratian, Ali;
- Ahadian, Mitra;
- Keify, Fatemeh;
- Meurice, Nathalie
Publication type:
Correction Notice
FMRP-dependent production of large dosage-sensitive proteins is highly conserved.
Published in:
Genetics, 2022, v. 221, n. 4, p. 1, doi. 10.1093/genetics/iyac094
By:
- Flanagan, Keegan;
- Baradaran-Heravi, Alireza;
- Qi Yin;
- Dao Duc, Khanh;
- Spradling, Allan C.;
- Greenblatt, Ethan J.
Publication type:
Article
Effect of small molecule eRF3 degraders on premature termination codon readthrough.
Published in:
Nucleic Acids Research, 2021, v. 49, n. 7, p. 3692, doi. 10.1093/nar/gkab194
By:
- Baradaran-Heravi, Alireza;
- Balgi, Aruna D;
- Hosseini-Farahabadi, Sara;
- Choi, Kunho;
- Has, Cristina;
- Roberge, Michel
Publication type:
Article
Schimke immunoosseous dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child.
Published in:
Pediatric Blood & Cancer, 2013, v. 60, n. 9, p. E88, doi. 10.1002/pbc.24542
By:
- Carroll, Clinton;
- Badu‐Nkansah, Akosua;
- Hunley, Tracy;
- Baradaran‐Heravi, Alireza;
- Cortez, David;
- Frangoul, Haydar
Publication type:
Article
Novel Mutation in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia: A Series of Three Cases.
Published in:
Journal of Clinical Research in Pediatric Endocrinology, 2013, v. 5, n. 3, p. 199, doi. 10.4274/Jcrpe.969
By:
- Ghaemi, Nosrat;
- Ghahraman, Martha;
- Abbaszadegan, Mohammad Reza;
- Baradaran-Heravi, Alireza;
- Vakili, Rahim
Publication type:
Article
The antimalarial drug mefloquine enhances TP53 premature termination codon readthrough by aminoglycoside G418.
Published in:
PLoS ONE, 2019, v. 14, n. 5, p. 1, doi. 10.1371/journal.pone.0216423
By:
- Ferguson, Michael W.;
- Gerak, Chloe A. N.;
- Chow, Christalle C. T.;
- Rastelli, Ettore J.;
- Elmore, Kyle E.;
- Stahl, Florian;
- Hosseini-Farahabadi, Sara;
- Baradaran-Heravi, Alireza;
- Coltart, Don M.;
- Roberge, Michel
Publication type:
Article
Evaluation of Novel Enhancer Compounds in Gentamicin-Mediated Readthrough of Nonsense Mutations in Rett Syndrome.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 14, p. 11665, doi. 10.3390/ijms241411665
By:
- Wong, Keit Men;
- Wegener, Eike;
- Baradaran-Heravi, Alireza;
- Huppke, Brenda;
- Gärtner, Jutta;
- Huppke, Peter
Publication type:
Article
Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.
Published in:
Clinical Endocrinology, 2007, v. 67, n. 3, p. 335, doi. 10.1111/j.1365-2265.2007.02886.x
By:
- Baradaran-Heravi, Alireza;
- Vakili, Rahim;
- Robins, Tiina;
- Carlsson, Jonas;
- Ghaemi, Nosrat;
- A'rabi, Azadeh;
- Abbaszadegan, Mohammad Reza
Publication type:
Article
Premature termination codon readthrough upregulates progranulin expression and improves lysosomal function in preclinical models of GRN deficiency.
Published in:
Molecular Neurodegeneration, 2020, v. 15, n. 1, p. 1, doi. 10.1186/s13024-020-00369-5
By:
- Frew, Jonathan;
- Baradaran-Heravi, Alireza;
- Balgi, Aruna D.;
- Wu, Xiujuan;
- Yan, Tyler D.;
- Arns, Steve;
- Shidmoossavee, Fahimeh S.;
- Tan, Jason;
- Jaquith, James B.;
- Jansen-West, Karen R.;
- Lynn, Francis C.;
- Gao, Fen-Biao;
- Petrucelli, Leonard;
- Feldman, Howard H.;
- Mackenzie, Ian R.;
- Roberge, Michel;
- Nygaard, Haakon B.
Publication type:
Article

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