Pode-Shakked B - Search Results

1

Acid-Induced Downregulation of ASS1 Contributes to the Maintenance of Intracellular pH in Cancer.

Silberman A, Goldman O, Boukobza Assayag O, Jacob A, Rabinovich S, Adler L, Lee JS, Keshet R, Sarver A, Frug J, Stettner N, Galai S, Persi E, Halpern KB, Zaltsman-Amir Y, Pode-Shakked B, Eilam R, Anikster Y, Nagamani SCS, Ulitsky I, Ruppin E, Erez A. Silberman A, et al. Cancer Res. 2019 Feb 1;79(3):518-533. doi: 10.1158/0008-5472.CAN-18-1062. Epub 2018 Dec 20. Cancer Res. 2019. PMID: 30573518 Free PMC article.

2

The GALT rush: high carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population.

Goldstein N, Cohen Y, Pode-Shakked B, Sigalov E, Vilensky B, Peleg L, Anikster Y. Goldstein N, et al. Mol Genet Metab. 2011 Feb;102(2):157-60. doi: 10.1016/j.ymgme.2010.10.007. Epub 2010 Oct 20. Mol Genet Metab. 2011. PMID: 21059483

3

Bitterness of glucose/galactose: novel mutations in the SLC5A1 gene.

Pode-Shakked B, Reish O, Aktuglu-Zeybek C, Kesselman D, Dekel B, Bujanover Y, Anikster Y. Pode-Shakked B, et al. J Pediatr Gastroenterol Nutr. 2014 Jan;58(1):57-60. doi: 10.1097/MPG.0000000000000114. J Pediatr Gastroenterol Nutr. 2014. PMID: 24048166

4

Man made disease: clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study.

Pode-Shakked B, Shemer-Meiri L, Harmelin A, Stettner N, Brenner O, Abraham S, Schwartz G, Anikster Y. Pode-Shakked B, et al. Mol Genet Metab. 2013;110 Suppl:S66-70. doi: 10.1016/j.ymgme.2013.10.006. Epub 2013 Oct 12. Mol Genet Metab. 2013. PMID: 24206931

5

Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene.

Eisenkraft A, Pode-Shakked B, Goldstein N, Shpirer Z, van Bokhoven H, Anikster Y. Eisenkraft A, et al. Fetal Pediatr Pathol. 2015;34(6):400-6. doi: 10.3109/15513815.2015.1095261. Epub 2015 Oct 16. Fetal Pediatr Pathol. 2015. PMID: 26470833

6

A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred.

Pode-Shakked B, Marek-Yagel D, Greenberger S, Pode-Shakked N, Pras E, Barzilai A, Yassin S, Sidi Y, Anikster Y. Pode-Shakked B, et al. Eur J Med Genet. 2015 Dec;58(12):685-8. doi: 10.1016/j.ejmg.2015.10.012. Epub 2015 Oct 27. Eur J Med Genet. 2015. PMID: 26518168

7

A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

Rechavi E, Lev A, Eyal E, Barel O, Kol N, Barhom SF, Pode-Shakked B, Anikster Y, Somech R, Simon AJ. Rechavi E, et al. J Clin Immunol. 2016 Nov;36(8):801-809. doi: 10.1007/s10875-016-0340-z. Epub 2016 Oct 12. J Clin Immunol. 2016. PMID: 27734333

8

Glutaric Aciduria type I and acute renal failure - Coincidence or causality?

Pode-Shakked B, Marek-Yagel D, Rubinshtein M, Pessach IM, Paret G, Volkov A, Anikster Y, Lotan D. Pode-Shakked B, et al. Mol Genet Metab Rep. 2014 Apr 17;1:170-175. doi: 10.1016/j.ymgmr.2014.03.001. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896087 Free PMC article.

9

Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature.

Katz S, Landau Y, Pode-Shakked B, Pessach IM, Rubinshtein M, Anikster Y, Salem Y, Paret G. Katz S, et al. Mol Genet Metab Rep. 2016 Dec 8;10:5-7. doi: 10.1016/j.ymgmr.2016.11.008. eCollection 2017 Mar. Mol Genet Metab Rep. 2016. PMID: 27995075 Free PMC article.

10

Phenotype variability in Hajdu-Cheney syndrome.

Regev M, Pode-Shakked B, Jacobson JM, Raas-Rothschild A, Goldstein DB, Anikster Y. Regev M, et al. Eur J Med Genet. 2019 Jan;62(1):35-38. doi: 10.1016/j.ejmg.2018.04.015. Epub 2018 Apr 23. Eur J Med Genet. 2019. PMID: 29698804

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