Human Molecular Genetics Biochemistry

Research output

Research output per year 1962 1997 1998 1999 2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 2011 2012 2013 2014 2015 2016 2017 2018 2019 2020 2021 2022 2023 2023

• 177714 Citations
• 179 h-index
• 2207 Article
• 372 Review article
• 91 Comment/debate
• 77 Editorial
• 181 More
  • 66 Chapter
  • 43 Letter
  • 34 Short survey
  • 15 Meeting Abstract
  • 12 Conference contribution
  • 6 Book
  • 3 Foreword/postscript
  • 2 Conference article

Research output per year

Research output per year

Search results

• 2023

  Abnormal gait and motor cortical processing in drug-resistant juvenile myoclonic epilepsy

  Maidan, I., Yam, M., Glatt, S., Nosatzki, S., Goldstein, L., Giladi, N., Hausdorff, J. M., Mirelman, A. & Fahoum, F., Feb 2023, In: Brain and Behavior. 13, 2, e2872.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Juvenile Myoclonic Epilepsy 100%
  • Gait 63%
  • Pharmaceutical Preparations 27%
  • Walking 14%
  • Epileptic Syndromes 7%

• Accelerated replicative senescence of ataxia-telangiectasia skin fibroblasts is retained at physiologic oxygen levels, with unique and common transcriptional patterns

  Haj, M., Levon, A., Frey, Y., Hourvitz, N., Campisi, J., Tzfati, Y., Elkon, R., Ziv, Y. & Shiloh, Y., Aug 2023, In: Aging Cell. 22, 8, e13869.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Ataxia Telangiectasia 100%
  • Cellular Senescence 86%
  • Fibroblasts 58%
  • Oxygen 56%
  • Skin 43%

• A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

  Frohne, A., Koenighofer, M., Cetin, H., Nieratschker, M., Liu, D. T., Laccone, F., Neesen, J., Nemec, S. F., Schwarz-Nemec, U., Schoefer, C., Avraham, K. B., Frei, K., Grabmeier-Pfistershammer, K., Kratzer, B., Schmetterer, K., Pickl, W. F. & Parzefall, T., Aug 2023, In: Human Genetics. 142, 8, p. 1077-1089 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Sensorineural Hearing Loss 100%
  • Hearing Loss 84%
  • Primary Ovarian Insufficiency 34%
  • Oculocutaneous Albinism 19%
  • Albinism 19%

• A Longitudinal Assessment of the Natural Change in Haemoglobin, Haematocrit, and Mean Corpuscular Volume with Age

  Goldberg, I., Cohen, E., Gafter-Gvili, A., Shochat, T., Kugler, E., Margalit, I., Goldberg, E., Raanani, P. & Krause, I., 1 Jun 2023, In: Acta Haematologica. 146, 3, p. 206-213 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Erythrocyte Indices 100%
  • Hematocrit 82%
  • Hemoglobins 66%
  • Confidence Intervals 24%
  • Israel 15%

• A multi-lab experimental assessment reveals that replicability can be improved by using empirical estimates of genotype-by-lab interaction

  Jaljuli, I., Kafkafi, N., Giladi, E., Golani, I., Gozes, I., Chesler, E. J., Bogue, M. A. & Benjamini, Y., May 2023, In: PLoS Biology. 21, 5, e3002082.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Genotype 100%
  • genotype 82%
  • Heterogeneity 64%
  • Reduction 63%
  • mice 46%

• A novel davunetide (NAPVSIPQQ to NAPVSIPQE) point mutation in activity-dependent neuroprotective protein (ADNP) causes a mild developmental syndrome

  Gozes, I. & Shazman, S., Jul 2023, In: European Journal of Neuroscience. 58, 2, p. 2641-2652 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • davunetide 100%
  • Point Mutation 52%
  • Proteins 19%
  • Microtubules 19%
  • Static Electricity 17%

• Anti-epileptogenic effect of FC99 and resveratrol

  Shor, O., Rabinowitz, R., Hersh, N., Vanichkin, A. & Benninger, F., 2023, In: Frontiers in Neuroscience. 17, 1223196.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Toll-Like Receptor 3 100%
  • Resveratrol 81%
  • Epilepsy 29%
  • Pilocarpine 28%
  • Temporal Lobe Epilepsy 27%

• A palmitate-rich metastatic niche enables metastasis growth via p65 acetylation resulting in pro-metastatic NF-κB signaling

  Altea-Manzano, P., Doglioni, G., Liu, Y., Cuadros, A. M., Nolan, E., Fernández-García, J., Wu, Q., Planque, M., Laue, K. J., Cidre-Aranaz, F., Liu, X. Z., Marin-Bejar, O., Van Elsen, J., Vermeire, I., Broekaert, D., Demeyer, S., Spotbeen, X., Idkowiak, J., Montagne, A., Demicco, M., & 30 othersAlkan, H. F., Rabas, N., Riera-Domingo, C., Richard, F., Geukens, T., De Schepper, M., Leduc, S., Hatse, S., Lambrechts, Y., Kay, E. J., Lilla, S., Alekseenko, A., Geldhof, V., Boeckx, B., de la Calle Arregui, C., Floris, G., Swinnen, J. V., Marine, J. C., Lambrechts, D., Pelechano, V., Mazzone, M., Zanivan, S., Cools, J., Wildiers, H., Baud, V., Grünewald, T. G. P., Ben-David, U., Desmedt, C., Malanchi, I. & Fendt, S. M., Mar 2023, In: Nature Cancer. 4, 3, p. 344-364 21 p.

  Research output: Contribution to journal › Article › peer-review

  • Palmitates 100%
  • Acetylation 85%
  • Lysine Acetyltransferases 55%
  • Neoplasm Metastasis 50%
  • Carnitine O-Palmitoyltransferase 45%

• Architectural basis for cylindrical self-assembly governing Plk4-mediated centriole duplication in human cells

  Il Ahn, J., Zhang, L., Ravishankar, H., Fan, L., Kirsch, K., Zeng, Y., Meng, L., Park, J. E., Yun, H. Y., Ghirlando, R., Ma, B., Ball, D., Ku, B., Nussinov, R., Schmit, J. D., Heinz, W. F., Kim, S. J., Karpova, T., Wang, Y. X. & Lee, K. S., Dec 2023, In: Communications Biology. 6, 1, 712.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Centrioles 100%
  • centrioles 90%
  • phosphotransferases (kinases) 60%
  • Phosphotransferases 54%
  • Biochemical Phenomena 46%

• A single-center real-life study on the use of medical cannabis in patients with dystonia

  Anis, S., Faust-Socher, A., Sverdlov, D., Lassman, S., Hezi, N., Anis, O., Leor, G., Korczyn, A. D., Giladi, N. & Gurevich, T., 2023, In: Frontiers in Neurology. 14, 1218300.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Medical Marijuana 100%
  • Dystonia 79%
  • Cannabis 47%
  • Dystonic Disorders 30%
  • Movement Disorders 25%

• Ataxia Telangiectasia Mutated Signaling Delays Skin Pigmentation upon UV Exposure by Mediating MITF Function toward DNA Repair Mode

  Elkoshi, N., Parikh, S., Malcov-Brog, H., Parikh, R., Manich, P., Netti, F., Maliah, A., Elkoshi, H., Haj, M., Rippin, I., Frand, J., Perluk, T., Haiat-Factor, R., Golan, T., Regev-Rudzki, N., Kiper, E., Brenner, R., Gonen, P., Dror, I., Levi, H., & 11 othersHameiri, O., Cohen-Gulkar, M., Eldar-Finkelman, H., Ast, G., Nizri, E., Ziv, Y., Elkon, R., Khaled, M., Ebenstein, Y., Shiloh, Y. & Levy, C., 2023, (Accepted/In press) In: Journal of Investigative Dermatology.

  Research output: Contribution to journal › Article › peer-review

  • Ataxia Telangiectasia 100%
  • Skin Pigmentation 94%
  • DNA Repair 72%
  • Pigmentation 53%
  • Protein 32%

• Bats experience age-related hearing loss (presbycusis)

  Tarnovsky, Y. C., Taiber, S., Nissan, Y., Boonman, A., Assaf, Y., Wilkinson, G. S., Avraham, K. B. & Yovel, Y., Jun 2023, In: Life Science Alliance. 6, 6, e202201847.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Presbycusis 100%
  • Chiroptera 82%
  • bat 74%
  • hearing 72%
  • Hearing Loss 60%

• Cannabinoid receptor gene CNR1 is downregulated in subcortical brain samples and upregulated in blood samples of individuals with schizophrenia: A participant data systematic meta-analysis

  Bloch Priel, S., Yitzhaky, A., Gurwitz, D. & Hertzberg, L., Sep 2023, In: European Journal of Neuroscience. 58, 6, p. 3540-3554 15 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Cannabinoid Receptors 100%
  • Schizophrenia 64%
  • Meta-Analysis 59%
  • Down-Regulation 55%
  • Brain 38%

• Cellular and metabolic characteristics of pre-leukemic hematopoietic progenitors with GATA2 haploinsufficiency

  Rein, A., Geron, I., Kugler, E., Fishman, H., Gottlieb, E., Abramovich, I., Giladi, A., Amit, I., Mulet-Lazaro, R., Delwel, R., Gröschel, S., Levin-Zaidman, S., Dezorella, N., Holdengreber, V., Rao, T. N., Yacobovich, J., Steinberg-Shemer, O., Huang, Q. H., Tan, Y., Chen, S. J., & 2 othersIzraeli, S. & Birger, Y., Sep 2023, In: Haematologica. 108, 9, p. 2316-2330 15 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • GATA2 Deficiency 100%
  • Germ-Line Mutation 60%
  • Acute Myeloid Leukemia 34%
  • Phenotype 32%
  • GATA2 Transcription Factor 31%

• CSF-derived extracellular vesicles from patients with Parkinson’s disease induce symptoms and pathology

  Herman, S., Djaldetti, R., Mollenhauer, B. & Offen, D., 1 Jan 2023, In: Brain. 146, 1, p. 209-224 16 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Extracellular Vesicles 100%
  • Synucleins 99%
  • Parkinson Disease 71%
  • Pathology 53%
  • Olfactory Bulb 21%

• Defective cathepsin Z affects EGFR expression and causes autosomal dominant palmoplantar keratoderma

  Malovitski, K., Sarig, O., Feller, Y., Bergson, S., Assaf, S., Mohamad, J., Pavlovsky, M., Giladi, M. & Sprecher, E., 24 Aug 2023, In: British Journal of Dermatology. 189, 3, p. 302-311 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Cathepsin Z 100%
  • Palmoplantar Keratoderma 79%
  • ErbB Receptors 49%
  • Keratinocytes 25%
  • Erlotinib Hydrochloride 16%

• Deoxyhypusine hydroxylase: A novel therapeutic target differentially expressed in short-term vs long-term survivors of glioblastoma

  Ofek, P., Yeini, E., Arad, G., Danilevsky, A., Pozzi, S., Luna, C. B., Dangoor, S. I., Grossman, R., Ram, Z., Shomron, N., Brem, H., Hyde, T. M., Geiger, T. & Satchi-Fainaro, R., 1 Aug 2023, In: International Journal of Cancer. 153, 3, p. 654-668 15 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • deoxyhypusine hydroxylase 100%
  • Glioblastoma 49%
  • Survivors 43%
  • hypusine 12%
  • eukaryotic translation initiation factor 5A 12%

• Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4

  Peled, A., Sarig, O., Mohamad, J., Eskin-Schwartz, M., Vodo, D., Bochner, R., Malchin, N., Isakov, O., Shomron, N., Fainberg, G., Bertolini, M., Paus, R. & Sprecher, E., 2023, (Accepted/In press) In: American Journal of Medical Genetics, Part A.

  Research output: Contribution to journal › Article › peer-review

  • Frontonasal dysplasia 100%
  • Catenins 70%
  • Hypotrichosis 45%
  • Anodontia 41%
  • Ectodermal Dysplasia 39%

• Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel

  The BCAC Consortium, NBCS Collaborators, CTS Consortium & ABCTB Investigators, 2023, (Accepted/In press) In: Journal of Medical Genetics. jmg-2023-109185.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Israel 100%
  • Breast Neoplasms 57%
  • Genome-Wide Association Study 21%
  • Single Nucleotide Polymorphism 11%
  • Risk Assessment 11%

• Graph embedding and Gaussian mixture variational autoencoder network for end-to-end analysis of single-cell RNA sequencing data

  Xu, J., Xu, J., Meng, Y., Lu, C., Cai, L., Zeng, X., Nussinov, R. & Cheng, F., 23 Jan 2023, In: Cell Reports Methods. 3, 1, 100382.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • RNA Sequencing 100%
  • Single-Cell Analysis 80%
  • RNA 72%
  • RNA Sequence Analysis 67%
  • Astrocytes 34%

• Higher-order interactions of Bcr-Abl can broaden chronic myeloid leukemia (CML) drug repertoire

  Liu, Y., Zhang, M., Jang, H. & Nussinov, R., Jan 2023, In: Protein Science. 32, 1, e4504.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive 100%
  • Oligomerization 97%
  • Protein-Tyrosine Kinases 86%
  • Crystallography 68%
  • Dimerization 53%

• High purity and integrity RNA from human cell lines stored in liquid nitrogen for over 20 years

  Voinsky, I., Shapira, E. & Gurwitz, D., Sep 2023, In: Drug Development Research. 84, 6, p. 1320-1324 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • RNA Sequencing 100%
  • Nitrogen 59%
  • Freezer 46%
  • RNA 41%
  • Cell Line 35%

• Immunoglobulin genes expressed in lymphoblastoid cell lines discern and predict lithium response in bipolar disorder patients

  Mizrahi, L., Choudhary, A., Ofer, P., Goldberg, G., Milanesi, E., Kelsoe, J. R., Gurwitz, D., Alda, M., Gage, F. H. & Stern, S., 2023, (Accepted/In press) In: Molecular Psychiatry.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Immunoglobulin Genes 100%
  • Lithium 85%
  • Bipolar Disorder 76%
  • Cell Line 46%
  • Machine Learning 9%

• Impaired myelin ultrastructure is reversed by citalopram treatment in a mouse model for major depressive disorder

  Israel-Elgali, I., Pan, H., Oved, K., Pillar, N., Levy, G., Barak, B., Carneiro, A., Gurwitz, D. & Shomron, N., Oct 2023, In: Journal of Psychiatric Research. 166, p. 100-114 15 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Citalopram 100%
  • Raphe Nuclei 88%
  • Serotonin Uptake Inhibitors 87%
  • Major Depressive Disorder 83%
  • Myelin Sheath 82%

• Machine Learning-Based Blood RNA Signature for Diagnosis of Autism Spectrum Disorder

  Voinsky, I., Fridland, O. Y., Aran, A., Frye, R. E. & Gurwitz, D., Feb 2023, In: International Journal of Molecular Sciences. 24, 3, 2082.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • machine learning 100%
  • RNA 95%
  • Machine Learning 89%
  • Autism Spectrum Disorder 82%
  • blood 75%

• Meta-analysis of brain samples of individuals with schizophrenia detects down-regulation of multiple ATP synthase encoding genes in both females and males

  Katz Shroitman, N., Yitzhaky, A., Ben Shachar, D., Gurwitz, D. & Hertzberg, L., Feb 2023, In: Journal of Psychiatric Research. 158, p. 350-359 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Schizophrenia 100%
  • Adenosine Triphosphate 95%
  • Meta-Analysis 91%
  • Down-Regulation 86%
  • Brain 60%

• Metformin Protects Against Noise-Induced Hearing Loss in Male Mice

  Kennedy, C. L., Shuster, B., Amanipour, R., Milon, B., Patel, P., Elkon, R. & Hertzano, R., 1 Oct 2023, In: Otology and Neurotology. 44, 9, p. 956-963 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Noise-Induced Hearing Loss 100%
  • Metformin 78%
  • Brain Stem Auditory Evoked Potentials 43%
  • Noise 33%
  • Outer Auditory Hair Cells 24%

• MYC Induces Immunotherapy and IFNg Resistance Through Downregulation of JAK2

  Markovits, E., Harush, O., Baruch, E. N., Shulman, E. D., Debby, A., Itzhaki, O., Anafi, L., Danilevsky, A., Shomron, N., Ben-Betzalel, G., Asher, N., Shapira-Frommer, R., Schachter, J., Barshack, I., Geiger, T., Elkon, R., Besser, M. J. & Markel, G., 1 Jul 2023, In: Cancer immunology research. 11, 7, p. 909-924 16 p.

  Research output: Contribution to journal › Article › peer-review

  • Immunotherapy 100%
  • Melanoma 94%
  • Down-Regulation 79%
  • E-Box Elements 34%
  • Tumor-Infiltrating Lymphocytes 28%

• Optimizing cancer immunotherapy response prediction by tumor aneuploidy score and fraction of copy number alterations

  Chang, T. G., Cao, Y., Shulman, E. D., Ben-David, U., Schäffer, A. A. & Ruppin, E., Dec 2023, In: npj Precision Oncology. 7, 1, 54.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Aneuploidy 100%
  • Immunotherapy 81%
  • Neoplasms 29%
  • Survival 17%
  • Elbow 10%

• Pan-cancer clinical impact of latent drivers from double mutations

  Yavuz, B. R., Tsai, C. J., Nussinov, R. & Tuncbag, N., Dec 2023, In: Communications Biology. 6, 1, 202.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Mutation 100%
  • neoplasms 90%
  • mutation 81%
  • Neoplasms 38%
  • Lung Neoplasms 31%

• Physiological expression of mutated TAU impaired astrocyte activity and exacerbates β-amyloid pathology in 5xFAD mice

  Farfara, D., Sooliman, M., Avrahami, L., Royal, T. G., Amram, S., Rozenstein-Tsalkovich, L., Trudler, D., Blanga-Kanfi, S., Eldar-Finkelman, H., Pahnke, J., Rosenmann, H. & Frenkel, D., Dec 2023, In: Journal of Neuroinflammation. 20, 1, 174.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Amyloid 100%
  • Astrocytes 97%
  • Pathology 66%
  • Alzheimer Disease 46%
  • Neuroglia 26%

• Precise alternating cellular pattern in the inner ear by coordinated hopping intercalations and delaminations

  Cohen, R., Taiber, S., Loza, O., Kasirer, S., Woland, S. & Sprinzak, D., Feb 2023, In: Science advances. 9, 8, eadd2157.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Inner Ear 100%
  • Inner Auditory Hair Cells 76%
  • Humulus 25%
  • Organ of Corti 24%
  • Cell Adhesion 17%

• Primary Melanoma miRNA Trafficking Induces Lymphangiogenesis

  Leichner, G. S., Schweitzer, I., Dror, S., Levin, L., Geva, P., Golan, T., Zaremba, L., Shapira, G., Parikh, R., Shomron, N., Barzilai, A., Hoheisel, J. D., Levy, C. & Greenberger, S., 2023, (Accepted/In press) In: Journal of Investigative Dermatology.

  Research output: Contribution to journal › Article › peer-review

  • Lymphangiogenesis 100%
  • MicroRNA 90%
  • Melanosomes 68%
  • MicroRNAs 62%
  • Melanoma 61%

• Protein folds vs. protein folding: Differing questions, different challenges

  Chen, S. J., Hassan, M., Jernigan, R. L., Jia, K., Kihara, D., Kloczkowski, A., Kotelnikov, S., Kozakov, D., Liang, J., Liwo, A., Matysiak, S., Meller, J., Micheletti, C., Mitchell, J. C., Mondal, S., Nussinov, R., Okazaki, K. I., Padhorny, D., Skolnick, J., Sosnick, T. R., & 4 othersStan, G., Vakser, I., Zou, X. & Rose, G. D., 3 Jan 2023, In: Proceedings of the National Academy of Sciences of the United States of America. 120, 1, e2214423119.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Proteomic signature for detection of high-grade ovarian cancer in germline BRCA mutation carriers

  Bahar-Shany, K., Barnabas, G. D., Deutsch, L., Deutsch, N., Glick-Saar, E., Dominissini, D., Sapoznik, S., Helpman, L., Perri, T., Blecher, A., Katz, G., Yagel, I., Rosenblatt, O., Shai, D., Brandt, B., Meyer, R., Mohr-Sasson, A., Volodarsky-Perel, A., Zilberman, I., Armon, S., & 12 othersJakobson-Setton, A., Eitan, R., Kadan, Y., Beiner, M., Josephy, D., Brodsky, M., Friedman, E., Anafi, L., Molchanov, Y., Korach, J., Geiger, T. & Levanon, K., 15 Feb 2023, In: International Journal of Cancer. 152, 4, p. 781-793 13 p.

  Research output: Contribution to journal › Article › peer-review

  • Germ-Line Mutation 100%
  • Proteomics 81%
  • Ovarian Neoplasms 80%
  • Liquid Biopsy 74%
  • Safety 30%

• Repair of noise-induced damage to stereocilia F-actin cores is facilitated by XIRP2 and its novel mechanosensor domain

  Wagner, E. L., Im, J. S., Sala, S., Nakahata, M. I., Imbery, T. E., Li, S., Chen, D., Nimchuk, K., Noy, Y., Archer, D. W., Xu, W., Hashisaki, G., Avraham, K. B., Oakes, P. W. & Shin, J. B., 2023, In: eLife. 12, e72681.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Phalloidin 100%
  • Stereocilia 92%
  • Filament 61%
  • Noise 57%
  • Actins 52%

• Shared and organ-specific gene-expression programs during the development of the cochlea and the superior olivary complex

  Bordeynik-Cohen, M., Sperber, M., Ebbers, L., Messika-Gold, N., Krohs, C., Koffler-Brill, T., Noy, Y., Elkon, R., Nothwang, H. G. & Avraham, K. B., 2023, In: RNA Biology. 20, 1, p. 629-640 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Superior Olivary Complex 100%
  • Cochlea 71%
  • MicroRNAs 57%
  • Gene Expression 40%
  • Computational Biology 18%

• Short-term molecular consequences of chromosome mis-segregation for genome stability

  Garribba, L., De Feudis, G., Martis, V., Galli, M., Dumont, M., Eliezer, Y., Wardenaar, R., Ippolito, M. R., Iyer, D. R., Tijhuis, A. E., Spierings, D. C. J., Schubert, M., Taglietti, S., Soriani, C., Gemble, S., Basto, R., Rhind, N., Foijer, F., Ben-David, U., Fachinetti, D., & 2 othersDoksani, Y. & Santaguida, S., Dec 2023, In: Nature Communications. 14, 1, 1353.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • genome 100%
  • Chromosome Segregation 94%
  • chromosomes 93%
  • Genomic Instability 84%
  • Aneuploidy 82%

• Small GTPase Ran: Depicting the nucleotide-specific conformational landscape of the functionally important C-terminus

  Czigleczki, J., de Resende Lara, P. T., Dudas, B., Jang, H., Perahia, D., Nussinov, R. & Balog, E., 16 Jan 2023, In: Frontiers in Molecular Biosciences. 10, 1111574.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Monomeric GTP-Binding Proteins 100%
  • Guanosine Triphosphate 89%
  • Molecular Dynamics Simulation 70%
  • Nucleotides 68%
  • Molecular Dynamics 62%

• SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice

  Drabkin, M., Jean, M. M., Noy, Y., Halperin, D., Yogev, Y., Wormser, O., Proskorovski-Ohayon, R., Dolgin, V., Levaot, N., Brumfeld, V., Ovadia, S., Kishner, M., Kazenell, U., Avraham, K. B., Shelef, I. & Birk, O. S., 2023, (Accepted/In press) In: Journal of Medical Genetics. jmg-2023-109264.

  Research output: Contribution to journal › Article › peer-review

  • Otosclerosis 100%
  • Phenotype 43%
  • Incus 42%
  • Hearing Loss 40%
  • Mutation 40%

• Spectrum of Response to Platinum and PARP Inhibitors in Germline BRCA-Associated Pancreatic Cancer in the Clinical and Preclinical Setting

  Stossel, C., Raitses-Gurevich, M., Atias, D., Beller, T., Glick Gorman, Y., Halperin, S., Peer, E., Denroche, R. E., Zhang, A., Notta, F., Wilson, J. M., O'Kane, G. M., Haimov Talmoud, E., Amison, N., Schvimer, M., Salpeter, S. J., Bar, V., Zundelevich, A., Tirosh, I., Tal, R., & 9 othersDinstag, G., Kinar, Y., Eliezer, Y., Ben-David, U., Gavert, N. S., Straussman, R., Gallinger, S. J., Berger, R. & Golan, T., 4 Aug 2023, In: Cancer Discovery. 13, 8, p. 1826-1843 18 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Poly(ADP-ribose) Polymerase Inhibitors 100%
  • Platinum 79%
  • Pancreatic Neoplasms 71%
  • Adenocarcinoma 59%
  • Homologous Recombination 24%

• Strategy toward Kinase-Selective Drug Discovery

  Zhang, M., Liu, Y., Jang, H. & Nussinov, R., 14 Mar 2023, In: Journal of Chemical Theory and Computation. 19, 5, p. 1615-1628 14 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Drug Discovery 100%
  • Bioinformatics 81%
  • drugs 75%
  • selectivity 70%
  • Epidermal Growth Factor 64%

• SWI/SNF complexes are required for retinal pigmented epithelium differentiation and for the inhibition of cell proliferation and neural differentiation programs

  Ovadia, S., Cui, G., Elkon, R., Cohen-Gulkar, M., Zuk-Bar, N., Tuoc, T., Jing, N. & Ashery-Padan, R., Aug 2023, In: Development (Cambridge). 150, 16, dev201488.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Epithelium 100%
  • Cell Proliferation 86%
  • Eye 64%
  • Transcription Factors 59%
  • Mesoderm 56%

• Tau, ADNP, and sex

  Gozes, I., 2023, (Accepted/In press) In: Cytoskeleton.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • davunetide 100%
  • Vasoactive Intestinal Peptide 62%
  • Translational Medical Research 60%
  • Proteins 59%
  • Catalytic Domain 48%

• The cytoplasmic localization of ADNP through 14-3-3 promotes sex-dependent neuronal morphogenesis, cortical connectivity, and calcium signaling

  Bennison, S. A., Blazejewski, S. M., Liu, X., Hacohen-Kleiman, G., Sragovich, S., Zoidou, S., Touloumi, O., Grigoriadis, N., Gozes, I. & Toyo-oka, K., 2023, (Accepted/In press) In: Molecular Psychiatry.

  Research output: Contribution to journal › Article › peer-review

  • 14-3-3 Proteins 100%
  • Calcium Signaling 85%
  • Neurites 80%
  • Morphogenesis 72%
  • Cytoplasm 44%

• The LHX2-OTX2 transcriptional regulatory module controls retinal pigmented epithelium differentiation and underlies genetic risk for age-related macular degeneration

  Cohen-Gulkar, M., David, A., Messika-Gold, N., Eshel, M., Ovadia, S., Zuk-Bar, N., Idelson, M., Cohen-Tayar, Y., Reubinoff, B., Ziv, T., Shamay, M., Elkon, R. & Ashery-Padan, R., Jan 2023, In: PLoS Biology. 21, 1, e3001924.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • macular degeneration 100%
  • Retinal 77%
  • Macular Degeneration 70%
  • epithelium 54%
  • Epithelium 51%

• The NCOR-HDAC3 co-repressive complex modulates the leukemogenic potential of the transcription factor ERG

  Kugler, E., Madiwale, S., Yong, D., Thoms, J. A. I., Birger, Y., Sykes, D. B., Schmoellerl, J., Drakul, A., Priebe, V., Yassin, M., Aqaqe, N., Rein, A., Fishman, H., Geron, I., Chen, C. W., Raught, B., Liu, Q., Ogana, H., Liedke, E., Bourquin, J. P., & 5 othersZuber, J., Milyavsky, M., Pimanda, J., Privé, G. G. & Izraeli, S., Dec 2023, In: Nature Communications. 14, 1, 5871.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Oncogenic 100%
  • genes 83%
  • Proline 73%
  • Cofactor 65%
  • Transcription Factors 53%

• Transcriptional profiling of the response to starvation and fattening reveals differential regulation of autophagy genes in mammals

  Galves, M., Sperber, M., Amer-Sarsour, F., Elkon, R. & Ashkenazi, A., 2023, In: Proceedings of the Royal Society B: Biological Sciences. 290, 1995, 20230407.

  Research output: Contribution to journal › Article › peer-review

  • starvation 100%
  • autophagy 98%
  • Starvation 90%
  • Nutrient 88%
  • Autophagy 80%

• Viral vector–mediated expression of Na_V1.1, after seizure onset, reduces epilepsy in mice with Dravet syndrome

  Fadila, S., Beucher, B., Dopeso-Reyes, I. G., Mavashov, A., Brusel, M., Anderson, K., Ismeurt, C., Goldberg, E. M., Ricobaraza, A., Hernandez-Alcoceba, R., Kremer, E. J. & Rubinstein, M., 15 Jun 2023, In: Journal of Clinical Investigation. 133, 12, e159316.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Myoclonic Epilepsy 100%
  • Epilepsy 60%
  • Seizures 55%
  • Comorbidity 18%
  • Voltage-Gated Sodium Channels 16%
• 2022

  Accurate prediction of molecular properties and drug targets using a self-supervised image representation learning framework

  Zeng, X., Xiang, H., Yu, L., Wang, J., Li, K., Nussinov, R. & Cheng, F., Nov 2022, In: Nature Machine Intelligence. 4, 11, p. 1004-1016 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Molecules 100%
  • Peptide Hydrolases 51%
  • Metabolism 43%
  • Toxicity 40%
  • Enzymes 39%