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12. Abstracts of papers presented at the 15th conference of the weed science society of Israel

Author

Eizenberg, H., Tanaami, Z., Jacobsohn, R., Lalazar, A., Hayut, M., Sibony, M., Tal, A., Rubin, B., Sibony, M., Yossef, T., Plakhine, D., Kleifeld, Y., Weinberg, T., Lior, E., Eizenberg, H., Tanaami, Z., Avdat, N., Jacobsohn, R., Portnoy, V. H., Katzir, N., Joel, D. M., Buxbaum, H., Goldwasser, Y., Hershenhorn, J., Zamski, E., Kleifeld, Y., Goldwasser, Y., Plakhine, D., Hershenhorn, Y., Golan, S., Herzlinger, G., Chilf, T., Losner-Goshen, Dalia, Portnoy, V. H., Joel, D. M., Aly, R., Hershenhorn, Y., Halpern, N., Kleifeld, Y., Blumenfeld, T., Herzlinger, G., Chilf, T., Shomer-Ilan, Adiva, Mayer, A. M., Bar-Nun, Nurit, Ben-Hod, G., Amsellem, Ziva, Gressel, J., Kernyi, Z., Hornok, L., Cohen, B., Amsellem, Ziva, Gressel, J., Sharon, A., Kitahin, S., Bosak, A., Bar-Peled, Y., Barnea, N., Sibony, M., Yasour, H., Hayut, M., Tal, A., Bosak, A., Alon, Y., El-Nahhal, Y. Z., Nir, S., Polubesova, T., Margulies, L., Siti, E., Kaplan, Ch., Levanon, I., Gokkes, M., Hadar, A., Chachlon, Y., Yovel, H., Colodney, G., Glidai, S., Tal, Shuli, Nir, A., Yasur, E., Kigel, J., Yaacoby, T., Nir, A., Ye, Bin, Gressel, J., Kimel, U., Manulis, Shulamit, Kleitman, Frida, Dror, Orit, Chalupowicz, Laura, Khayat, E., Tsror (Lahkim), Leah, Erlich, Orly, Menashe, A., Wysoki, M., Gerson, U., Slabezki, Y., Dag, A., Efrat, H., Yacobson, B., Palevsky, E., Reuveny, H., Oppenheim, D., Okonis, O., Raccah, B., Kritzman, Anat, Yunis, H., Raccah, B., Gera, A., Tanne, Edna, Cohen, J., Tanne, Edna, Sandu, Z., Alexandrov, Svetlana, Geral, A., Cohen, Y., Farkash, Sonja, Baider, A., Zahavi, Tirza, Reuveni, M., Scheglov, D., Lavee, S., speltoides, Aegilops, Manisterski, J., Ben-Yehuda, Pnina, Shimony, Ayelet, Eilam, Tamar, Anikster, Y., Freeman, S., Lahav, C., Sztejnberg, A., Nitzani, Y., Maimon, M., Katan, Talma, Shtienberg, D., Kritzman, G., Herzog, Z., Openheim, D., Zilberstaine, Miriam, Blatchinsky, Daphna, Elad, Y., Mesika, Y., Elad, Y., Nitzani, Y., Kirshner, B., Shmulevitz, Y., David, Dalia Rav, Sztjenberg, A., Yehezkel, Hanna, Shmuel, D., Taari, E., Posalski, Y., Cohen, Y., Fuchs, M., Mesika, Y., Elad, Y., Nitzani, Y., Kirshner, B., Shmulevitz, Y., David, Dalia Rav, Sztjenberg, A., Yehezkel, Hanna, Shmuel, D., Taari, E., Posalski, Y., Katan, J., Pivonia, S., Cohen, R., Kigel, J., Katan, J., Levite, Rachel, Gamliel, A., Grinstein, A., Zilberg, V., Benihes, Marina, Ucko, Orna, Klein, L., Uriely, E., Stangheilini, M. E., Katan, J., Korolev, Nadia, Katan, J., Katan, Talma, Tsror, Leah, Hazanovsky, Marina, Leviush-Mordechai, Sara, Sivan, Sara, Rekah, Yael, Shtienberg, D., Katan, J., Tsror, Leah, Hazanovsky, Marina, Aharon, M., Peretz-Alon, I., Prusky, D., Beno-Moualem, Delilah, Prusky, D., Yakoby, N., Kobiler, Ilana, Dinoor, A., Prusky, D., Dudai, N., Reuveni, R., Chaimovitch, D., Sa’adi, Daya, Larkov, Olga, Dor, Evgenia, Lewinsohn, E., Putievsky, E., Afek, U., Orenstein, Janeta, Nuriel, E., Carmeli, S., Rodov, V., Bar-Joseph, M., Eshel, D., Ben-Arie, Ruth, Dinoor, A., Prusky, D., Reuven, Michal, Zviebil, Aida, Szmulewich, Y., Kleitman, Frida, Manulis, Shulamit, Ben-Yephet, Y., Ben-Yephet, Y., Reuven, Michal, Zviebil, Aida, Szmulewich, Y., Lavkovits, Airit, Markovits, T., Mor, I., Bar-Yosef, B., Iraki, N. M., Ahmad, M. N., Abu-Sa’id, J. N., Manulis, Shulamit, Barash, I., Assaraf, M., Ginzburg, C., Yarden, O., Katan, J., Gamliel, A., Gamliel, A., Grinstein, A., Ucko, Orna, Mduel, A., Klein, L., Shtienberg, D., Katan, J., Oren, Y., Solel, Z., Kimchi, Miriam, Sadovski, A., Oren, Y., Yogev, E., Yaniv, A., Omari, A., Ofer, I., Sarid, P., Avisar, E., Naot, O., Bing, B., Ovadia, S., Yunis, H., Sachs, Y., Sandu, Z., Mor, Neta, Gotlieb, Y, Zahavi, Tirza, Reuveni, M., Naot, O., Ofer, I., Sarid, P., Yaniv, A., Omari, A., Benishti, Ronit, Bing, B., Ovadia, S., HaMeiri, Y., Blatchinsky, Daphna, Sarig, P., Zahavi, Tirza, Reuveni, M., Yogev, Anat, Barzilai, Y., Balaom, B., Tsror, Leah, Hazanovsky, Marina, Erlich-Holtzer, Orly, Peretz-Alon, I., Ben-David, Tselila, Lang, M., Lubovsky, U., Engel-Kirshner, R., Ofer, I., Omari, A., Benishti, Ronit, Sarid, P., Yaniv, A., Avisar, E., Naot, O., Bing, B., Ben-Arie, Ruth, Yunis, H., Zachs, Y., Dubitzky, A., Mor, Neta, Genaim, N., HaMeiri, Y., Gotlieb, Y., Zahavi, Tirza, Cohen, Y., Reuveni, M., Zahavi, Tirza, Cohen, Y., Porat, R., Vinocur, V., Weisseah, Batya, Cohen, Leah, Droby, S., Dor, Evgenia, Dudai, N., Chaimovitch, D., Larkov, Olga, Putievsky, E., Hershenhorn, J., Sharon, Edna, Bar-Eyal, Meira, Mor, M., Kleifeld, O., Chet, I., Spiegel, Y., Yechye, U., Sztejnberg, A., Nof, E., Rubin, B., Dinoor, A., Dinoor, A., Guske, Susanne, Nof, Esther, Lichter, A., Dvir, Orit, Zutkhi, Y., Kapulonov, Tania, Sonego, Lillian, Sarig, P., Ben-Arie, Ruth, Gamliel, A., Gokkes, M., Israel, S., Skutelski, Yael, Lahav, Tamar, Gamliel, A., Kritzman, G., Peretz-Alon, Y., Becker, E., Zilberg, V., Heiman, O., Shlevin, E., Mahrer, Y., Katan, J., Fluhr, R., Pan, Q., Sela, Marianne, Pisanti, Odelia, Hadrian, Ofra, Fainzilber, Ada, Sivaldi, Sigal, Zamir, D., Silverman, D., Kritzman, G., Katan, J., Ausher, R., Melamed, Y., Gal-On, A., Slutsky, G., Wang, Y., Galiakparov, Nurbol, Aziz, Orly, Tanne, Edna, Sela, I., Gafny, R., Teverovsky, Emma, Akad, F., Gidoni, D., Czosnek, H., Loebenstein, G., Bakshi, S., Yarden, Oded, Sztejnberg, Abraham, Yassur, Inbal, Wolf, S., Dickman, M. B., Mitra, A., Yarden, O., Sharon, A., Robinson, M., Maor, R., Ezra, D., Manulis, Shulamit, Barash, I., Pardes, Einat, Manisterski, J., Ben-Yehuda, Pnina, Kosman, I., Anikster, Y., and Sharon, A.

Published
1999
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16. Genome size in natural and synthetic autopolyploids and in a natural segmental allopolyploid of several Triticeae species

Author

Eilam, T., Anikster, Y., Millet, E., Manisterski, J., and Feldman, M.

Subjects
Measurement, Genetic aspects, Research, Natural history, Polyploidy -- Research -- Measurement -- Genetic aspects, Genomes -- Measurement -- Genetic aspects -- Research, Grasses -- Genetic aspects -- Natural history -- Measurement -- Research
Abstract

Introduction Polyploidy, the presence of three or more chromosome sets in an organism, has played a major role in the evolution of multicellular plants (Stebbins 1950, 1971; Grant 1971; Masterson [...], Nuclear DNA amount (1C) was determined by flow cytometry in the autotetraploid cytotype of Hordeum bulbosum, in the cytologically diploidized autotetraploid cytotypes of Elymus elongatus, Hordeum murinum subsp. murinum and Hordeum murinum subsp. leporinum, in Hordeum marinum subsp. gussoneanum, in their progenitor diploid cytotypes, and in a newly synthesized autotetraploid line of E. elongatus. Several lines collected from different regions of the distribution area of every taxon, each represented by a number of plants, were analyzed in each taxon. The intracytotype variation in nuclear DNA amount of every diploid and autotetraploid cytotype was very small, indicating that no significant changes have occurred in DNA amount either after speciation or after autopolyploid formation. The autotetraploid cytotypes of H. bulbosum and the cytologically diploidized H. marinum subsp. gussoneanum had the expected additive amount of their diploid cytotypes. On the other hand, the cytologically diploidized autotetraploid cytotypes of E. elongatus and H. murinum subsp. murinum and H. murinum subsp. leporinum had considerably less nuclear DNA (10%-23%) than the expected additive value. Also, the newly synthesized autotetraploid line of E. elongatus showed similar reduction in DNA as its natural counterpart, indicating that the reduction in genome size occurred in the natural cytotype during autopolyploidization. It is suggested that the diploid-like meiotic behavior of these cytologically dipolidized autotetraploids is caused by the instantaneous elimination of a large number of DNA sequences, different sequences from different homologous pairs, leading to differentiation of the constituent genomes. The eliminated sequences are likely to include those that participate in homologous recognition and initiation of meiotic pairing. A gene system determining exclusive bivalent pairing by utilizing the differentiation between the two groups of homologues has been presumably superimposed on the DNA reduction process. Key words: autopolyploidy, DNA content, DNA sequence elimination, genome size. Le contenu en ADN nucleaire (1C) a ete determine par cytometrie en flux chez les cytotypes suivants : le cyto-type autotetraploide de l'Hordeum bulbosum, les cytotypes autotetraploides diploidises (formant principalement des bivalents) de l'Elymus elongatus, des Hordeum murimum subsp. murinum et Hordeum murimum subsp. leporinum, des Hordeum marinum subsp. gussoneanum, les cytotypes diploides des especes progenitrices et d'un E. elongatus autotetraploide nouvellement synthetise. Plusieurs lignees provenant des differentes regions de l'aire de distribution de ces taxons, chacune representee par plusieurs plantes, ont ete analysees pour chaque taxon. La variation pour le contenu en ADN nucleaire au sein d'un cytotype etait tres faible chez tous les cytotypes diploides et autotetraploides, indiquant qu'aucun changement important n'etait survenu apres la speciation ou la formation d'un autopolyploide. Les cytotypes autotetraploides de l'H. bulbosum et de l'H. marinum subsp. gussoneanum diploidise presentaient la quantite attendue suite a l'addition des cytotypes diploides. Par contre, les cytotypes diploidises de PE. elongatus et des H. murinum subsp. murinum et H. murium subsp. leporinum avaient un contenu en ADN nucleaire nettement moins grand (de 10% a 23% moins) que la somme attendue. De plus, la lignee autotetraploide nouvellement synthetisee de FE. elongatus a affiche une reduction semblable a celle observee chez son pendant naturel ce qui indique que la reduction de la taille du genome serait survenue lors de l'autopolyploidisation chez le cytotype naturel. Les auteurs suggerent que le comportement meiotique de type diploide chez les autotetraploides diploidises est cause par une elimination instantanee d'un grand nombre de sequences, diverses sequences chez differentes paires de chromosomes homologues, menant ainsi a la differenciation des genomes constitutifs. Il est probable que l'on compte parmi les sequences eliminees celles qui participent a la reconnaissance des homologues a l'initiation de l'appariement meiotique. Un systeme genetique entrainant un appariement exclusivement sous forme de bivalents moyennant la differenciation des deux groupes d'homologues se seraient vraisemblablement superposee au processus de reduction de la taille du genome. Mots-cles : autopolyploidie, contenu en ADN, elimination de sequences d'ADN, taille du genome. [Traduit par la Redaction]

Published
2009

17. SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

Author

Lin, Y.C., Niceta, M., Muto, V., Vona, B., Pagnamenta, A.T., Maroofian, R., Beetz, C., Duyvenvoorde, H. van, Dentici, M.L., Lauffer, P., Vallian, S., Ciolfi, A., Pizzi, S., Bauer, P., Gruning, N.M., Bellacchio, E., Fattore, A. del, Petrini, S., Shaheen, R., Tiosano, D., Halloun, R., Pode-Shakked ben, Albayrak, H.M., Isik, E., Wit, J.M., Dittrich, M., Freire, B.L., Bertola, D.R., Jorge, A.A.L., Barel, O., Sabir, A.H., Tenaiji, A.M.J. al, Taji, S.M., Al-Sannaa, N., Al-Abdulwahed, H., Digilio, M.C., Irving, M., Anikster, Y., Bhavani, G.S.L., Girisha, K.M., Haaf, T., Taylor, J.C., Dallapiccola, B., Alkuraya, F.S., Yang, R.B., Tartaglia, M., Genomics England Res Consortium, Consortium, Genomics England Research, Graduate School, Paediatric Endocrinology, ANS - Cellular & Molecular Mechanisms, and AGEM - Amsterdam Gastroenterology Endocrinology Metabolism

Subjects
Male, 0301 basic medicine, SCUBE, Developmental Disabilities, mechanism of disease, Morphogenesis, Bone Morphogenetic Protein 2, morphogenesis, Bone Morphogenetic Protein 4, Biology, Bone morphogenetic protein, Bone morphogenetic protein 2, Article, Bone and Bones, Cell Line, Mice, 03 medical and health sciences, 0302 clinical medicine, Osteogenesis, Cell Line, Tumor, bone morphogenetic protein, Genetics, Animals, Humans, BMP, Receptor, Genetics (clinical), Loss function, Mice, Inbred C3H, Calcium-Binding Proteins, intracellular signaling, Gene Expression Regulation, Developmental, skeletal development, Hep G2 Cells, Chondrogenesis, Phenotype, Endochondral bone growth, Cell biology, Mice, Inbred C57BL, HEK293 Cells, 030104 developmental biology, Bone Morphogenetic Proteins, genomic sequencing, MCF-7 Cells, Intercellular Signaling Peptides and Proteins, Female, BMP receptors, 030217 neurology & neurosurgery, Signal Transduction
Abstract

Summary Signal peptide-CUB-EGF domain-containing protein 3 (SCUBE3) is a member of a small family of multifunctional cell surface-anchored glycoproteins functioning as co-receptors for a variety of growth factors. Here we report that bi-allelic inactivating variants in SCUBE3 have pleiotropic consequences on development and cause a previously unrecognized syndromic disorder. Eighteen affected individuals from nine unrelated families showed a consistent phenotype characterized by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. In vitro functional validation studies demonstrated a variable impact of disease-causing variants on transcript processing, protein secretion and function, and their dysregulating effect on bone morphogenetic protein (BMP) signaling. We show that SCUBE3 acts as a BMP2/BMP4 co-receptor, recruits the BMP receptor complexes into raft microdomains, and positively modulates signaling possibly by augmenting the specific interactions between BMPs and BMP type I receptors. Scube3−/− mice showed craniofacial and dental defects, reduced body size, and defective endochondral bone growth due to impaired BMP-mediated chondrogenesis and osteogenesis, recapitulating the human disorder. Our findings identify a human disease caused by defective function of a member of the SCUBE family, and link SCUBE3 to processes controlling growth, morphogenesis, and bone and teeth development through modulation of BMP signaling.

Published
2021

18. Nuclear DNA amount and genome downsizing in natural and synthetic allopolyploids of the genera Aegilops and Triticum

Author

Eilam, T., Anikster, Y., Millet, E., Manisterski, J., and Feldman, M.

Subjects
Genetic aspects, Research, Allopolyploidy -- Research -- Genetic aspects, Wheat -- Genetic aspects -- Research, Allopolyploid -- Research -- Genetic aspects
Abstract

Recent molecular studies in the genera Aegilops and Triticum showed that allopolyploidization (interspecific or intergeneric hybridization followed by chromosome doubling) generated rapid elimination of low-copy or high-copy, noncoding and coding [...]

Published
2008

22. Genome size and genome evolution in diploid Triticeae species

Author

Eilam, T., Anikster, Y., Millet, E., Manisterski, J., Sagi-Assif, O., and Feldman, M.

Subjects
Identification and classification, Evaluation, Research, Genetic aspects, Plant genetics -- Research -- Genetic aspects, Genetic variation -- Evaluation -- Research -- Genetic aspects, Genomes -- Identification and classification -- Genetic aspects -- Research, Wheat -- Genetic aspects -- Evaluation
Abstract

One of the intriguing issues concerning the dynamics of plant genomes is the occurrence of intraspecific variation in nuclear DNA amount. The aim of this work was to assess the [...]

Published
2007

27. Abstracts of Presentations at the 19th Congress of the Israeli Phytopathological Society: February 16–17, 1998 ARO, the Volcani Center, Bet Dagan, Israel

Author

Raviv, M., Nir, I., Pinkas, Y., Shabi, E., Elisha, S., Maimon, Marcell, Szmulewich, Y., Freeman, S., Shabi, E., Nitzani, Y., Katan, Talma, Luzzati, Y., Tsror, Leah, Erlich, Orly, Hazanovsky, Marina, Tsror, Leah, Nachmias, A., Aharon, M., Erlich, Orly, Shtienberg, D., Vintal, H., Nitzani, Y., Brener, S., Retig, B., Rekah, Y., Katan, J., Shtienberg, D., Manisterski, J., Ben-Yehuda, Pnina, Eyal, Z., Eilam, Tamar, Anikster, Y., Shaharabani, Galit, Shtienberg, D., Elad, Y., Dinoor, A., Yedidia, I., Chet, I., Zutra, D., Erlich, Orly, Tsror, Leah, Hadas, Rivka, Kritzman, G., Ben-Yephet, Y., Reuven, Michal, Mor, I., Gera, A., Gerson, U., Taler, D., Cohen, Y., Bitton, Ruth, Cohen, Y., Cohen, Y., Baider, A., Reuveni, M., Benhamou, Nicolle, Kapulnik, Y., Ezrati, Smadar, Schuster, Sylvie, Eshel, A., Eyal, Z., Assaraf, M., Ginzburg, C., Yarden, O., Yatzkan, Enat, Katan, J., Korolev, Nadia, Katan, Talma, Jimenez-Diaz, R. M., Katan, J., Maor, R., Robinson, M., Puyesky, Mariella, Horwitz, B. A., Sharon, A., Pivonia, S., Kigel, J., Cohen, R., Katan, J., Tanne, Edna, Orenstein, Sigalit, Sela, I., Zehavi, Tirza, Klein, M., Gafny, R., Rubinson, E., Galiakparov, N., Piestun, D., Tanne, E., Sela, I., Cohen, J., Zeidan, M., Franck, A., Bekelman, E., Gera, A., Gotman, S., Zeidan, M., Cohen, J., Gera, A., Gera, A., Kritzman, Anat, Cohen, J., Bekelman, Elena, Raccah, B., Manor, H., Ganaim, N., Yunis, H., Kadouri, D., Gal-On, A., Peng, Y. -H., Wang, Y., Singer, Sima, Huet, H., Raccah, B., Edelstein, M., Cohen, R., Paris, H. S., Pivonia, S., Offenbach, Rivka, Pivonia, S., Levita, Rachel, Maduel, A., Isikson, A., Ucko, Orna, Cohen, R., Katan, J., Galperin, Mariana, Cohen, Y., Kenigsbuch, D., Shabi, E., Roberts, A. L., Crute, I. R., Reuveni, M., Harpaz, M., Reuveni, R., Oren, Y., Solel, Z., Kimchi, Miriam, Schneider, R., Ben-Nun, E., Shlevin, E., Dinoor, A., Shtienberg, D., Fallik, E., Grinberg, Shoshana, Alkalai, Sharon, Aharoni, Y., Copel, Azica, Rodov, V., Yekutieli, O., Regev, R., Wiseblum, A., Gamliel, A., Austerweil, Miriam, Benihes, Marina, Kritzman, G., Peretz-Alon, Y., Ucko, Orna, Choutka, C., Steiner, B., Grinshpun, I., Katan, J., Gamliel, A., Grinstein, A., Orion, D., Choutka, C., Steiner, B., Grinshpun, I., Gamliel, A., Grinstein, A., Guetsky, Ruth, Dinoor, A., Elad, Y., and Shtienberg, D.

Published
1998
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29. The 18th congress of the israeli phytopathological society: February 3-4, 1997

Author

Elad, Y., Shtienberg, D., Vintal, H., Cohen, Y., Farkash, Sonia, Reshit, Zipora, Baider, A., Levy, Edna, Ben-Ze’ev, I. S., Nitzani, Y., Kleitman, Frieda, Katan, Talma, Zutra, D., Rav-David, Dahlia, Cohen, Ronit, Lisker, N., Gera, A., Cohen, J., Franck, A., Ben-David, S., Lavi, A., Gokkes, M., Salomon, R., Levi, S., Bernardi, Françoise, Gal-On, A., Yongzeng, Wang, Lapidot, M., Cohen, S., Lachman, O., Yehezkel, A., Friedmann, M., Nahon, S., Pilowsky, M., David, A., Akad, F., Teverovsky, E., Lachman, O., Loebenstein, G., Filatov, V., Sadvakasova, G., Antignus, Y., Lachman, O., Cohen, S., Pearlsman, Malenia, Cohen, J., Franck, A., Gera, A., Finckelstein, S., Gutman, S., Tanne, Edna, Orenstein, S., Frank, A., Mor, M., Spiegel, Y., Ben-Anat, S., Koltai, Hinanit, Spiegel, Y., Chejanovsky, N., Raccah, B., Orion, D., Fisher, E., (Lahkim), Leah Tsror, Erlich, Orly, Hazanovsky, Marina, Rekah, Yael, Katan, J., Shtienberg, D., Peretz Alon, I., Zamski, E., Ben-Yephet, Y., Reuven, Michal, Lampel, Miriam, Kogan, Nina, Manulis, Shulamit, Nelson, E. B., Kritzman, G., Kirshner, B., Grinstein, A., Zilber, V., Austerweil, Miriam, Gamliel, A., Alon, Peretz, Becker, E., Heiman, O., Di Primo, P., Shlevin, E., Katan, J., Mahrer, Y., Shlevin, E., Katan, J., Mahrer, Y., Saguy, I., Werf, W. van der, Ruissen, T., Gamliel, A., Grinstein, A., Eshel, D., Di Primo, P., Katan, J., Gamliel, A., Grinstein, A., Oku, Orna, Maduel, A., Klein, L., Cohen, Y., Katan, J., Reuven, Michal, Zviebil, Aida, Szmulewich, Y., Ben-Yephet, Y., Gamliel, A., Mpr, Y., Ben-Yephet, Y., Craft, C., Nelson, E. B., Shraiber, Shoshana, Cohen, R., Raz, D., Pivonia, S., Shtienberg, D., Gerstl, Z., Katan, J., Ziv, O., Reuveni, R., Dor, Genia, Bar, Anat, Freiman, Lilia, Reuveni, M., Taub, D., Prusky, D., Zutkhi, Y., Ben-Arie, Ruth, Elad, Y., Shtienberg, D., Nitzani, Y., Kirshner, B., Afek, U., Nuriel, E., Orenstein, Janeta, Rivan, Yehudith, Amiel, A., Shteiner, Bracha, Banihas, Marina, Grinstein, A., Rav-David, Dalia, Kirshner, B., Elad, Y., Yaakov, B., Kovatz, M., Yogev, E., Zehavi, Tirza, Ben-Arie, Ruth, Alon, I. Peretz, Cohen, Y., Zilberstein, Y., Amselem, D., Gal, S., Zilberstein, Y., Shabi, E., Elisha, S., Katan, Talma, Boehn, E. W. A., Roberts, A. L., Crute, I. R., Oppenheim, D., Lahkim, Leah Tsror, Erlich, Orly, Hazanovsky, Marina, Kobiler, Hana, Ardi, R., Prusky, D., Jacoby, B., Leikin-Frenkel, A., Ardi, R., Kobiler, Hana, Prusky, D., Nof, E., Dinoor, A., Brodny, U., Rivadeneira, M., Levi-Kedmi, Hagit, Maor, R., Sharon, A., Grünzweig, J. M., Rabinowitch, H. D., Katan, J., Eshed, Y., Ben-Tal, Y., Korolev, Nadia, Katan, Talma, Katan, J., Ben-Ze’ev, I. S., Levy, Edna, Goldshlag, Paulina, Eilam, Tamar, Anikster, Y., Shiboleth, Y., Gal-On, A., Levy, S., Salomon, R., Koch, Margery, Rabinowitch, H. D., Pinkas, Y., Maymon, M., Freeman, S., Teverovsky, Emma, Akad, F., David, A., Loebenstein, G., Valinsky, Lea, Manulis, Shulamit, Nitzan-Koren, R., and Barash, I.

Published
1997
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32. Abstracts of papers presented at the 8th conference of the Entomological Society of Israel Abstracts of papers presented at the 17th congress of the Israeli Phytopathological Society: January 18, 1996 ARO, The Volcani Center, Bet Dagan, Israel February 19–20, 1996 ARO, The Volcani Center, Bet Dagan, Israel

Author

Freidberg, Amnon, össler, Yoram, Nestel, David, Hirsh, Smadar, Israely, Nimrod, Yuval, Boaz, Warburg, Meirav S., Blay, Sigal, Kaspi, Roy, Hasson, Oren, Rubin, Amos, Landesman, Arieh, Zakkay, Edva, Levy, Ruthi, Meidan, Salo, Mazor, Michal, el-Hadi, Fathi Abd, Gafni, Y., Tsror, Leah, Erlich, Orly, Chen, C., Ben-Ze’ev, I., Kritzman, G., Zutra, D., Assouline, I., Freeman, S., Zilberstaine, Miriam, Levy, Edna, Ben-Zeev, I. S., Dlugatch, Yael, Shabi, E., Katan, Talma, Teviotdale, Beth, Hazanovsky, Marina, Kosto, I., Sharabani, Galit, Shtienberg, D., Elad, Y., Dinoor, A., Yunis, H., Manisterski, J., Ben-Yehuda, Pnina, Kosman, E., Eyal, Z., Eilam, Tamar, Anikster, Y., Pivonia, S., Cohen, R., Ben-Ze’ev, I. S., Kafkafi, U., Katan, J., Edelstein, M., Offenbach, Rivka, Gamliel, A., Shlevin, E., Lazarovits, G., Bar-Lev, N., Chefetz, B., Chen, Y., Hadar, Y., Madi, Lea, Mahrer, Y., Di Primo, P., Grinstein, A., Alon, I. Peretz, Heiman, O., Bar, Z., Serlin, E., Kleifeld, O., Chet, I., Abramsky, Miriam, Yedidia, Iris, Henis, Y., Rodov, V., Peretz, J., Ben-Yehoshua, S., Afek, U., Orenstein, Janeta, Nuriel, E., Austerweil, M., Ben-David, Tsilah, Steiner, B., Riven, Yehudit, Zilberg, V., Amir, R., Livescu, L., Hazanovski, Marina, Aharon, M., Barak, R., Peretz, I., Bing, B., Yaniv, A., Barak, E., Reuveni, M., Zehavi, Tirza, Reuveni, R., Fallik, E., Grinberg, Shoshana, Ziv, O., Paster, N., Menasherov, Mazal, Ravid, U., Katzir, Irena, Zohar, D., Dreishpun, J., Hefer, Y., Lior, A., Rodman, R., Katz, H., Chalutz, E., Droby, S., Cohen, Lea, Weiss, Batia, Daus, A., Horev, Batia, Chalupovicz, Laura, Yogev, E., Shaknai, A., Beth-Din, D., Berson, M., Sztejnberg, A., Mairovich, G., Marder, J. B., Lischinsky, Smadar, Manulis, Shulamit, Galperin, M., Levy, Y., Korolev, Nadia, Flaishman, M. A., Kolattukudy, P. E., Prusky, D., Wattad, C., Kobiler, Ilana, Cohen, Y., Baider, A., Reshit, Zipora, Farkas, Sonia, Ga’ash, D., Kleitman, Frieda, Dror, O., Elisha, S., David, I., Rav-David, Dalia, Herzog, Z., Burger, Y., Shraiber, Shoshana, Elkind, Y., Levin, Eilit, Grünzweig, J. M., Rabinowitch, H. D., Ben-Tal, Y., Wodner, Maria, Solel, Z., Mogilner, N., Kimchi, Miriam, Gafni, R., Bar-Joseph, M., Madar, Z., Kimchi, M., Riov, J., Oved, S., Yarden, O., Haviv, Anat, Barash, I., Sietsma, J. H., Din, Adi Beth, Ziv, Vered, Sjollema, K. A., Greenberg, Ronit, Shreiber, Shoshana, Katzir, Nurit, Kalman, Sara, Zamir, D., Pnini-Cohen, Smadar, Zilberstein, Avian, Schuster, Silvia, Sharon, A., Rotem, Y., Weiss, Nava, Shapira, R., Eyal, Osnat, Matt, Anyet, Salomon, R., Shifer, O., Rosenberg, E., Hadar, Ester, Gottlieb, Y., Sando, T., Ben-David, Tsilla, Hadar, Esther, Cohen, J., Franck, A., Umiel, N., Hadar, E., Finkelstein, S., Gera, A., Levy, S., Lesemann, D. -E., Lapidot, M., Cohen, S., Ben-Joseph, Rachel, Harush, S. Ben, Pilowsky, M., Shifriss, C., Zelcer, A., Wolf, Dalia, Faure, J. -E., Bar, M., Rosner, A., Gal-On, A., Lev, E., Livne, H., Omer, S., Yunes, H., Singer, S., Raccah, B., Antignus, Y., Pearlsman, Malenia, Lachman, O., Koren, A., Bernardi, Francoise, DiFonzo, C. D., Ragsdale, D. W., Radcliffe, E. B., Mawassi, M., Mietkiewska, Elzbieta, Hilf, M. E., Ashulin, Lilach, Karasev, A. V., Gafny, R., Lee, R. F., Garnsey, S. M., Dawson, W. O., Yang, G., Frank, A., Febres, V. J., Niblett, C. L., Gofman, Rose, Koltai, Hinanit, Chejanovsky, N., Spiegel, Y., Oka, Y., Mor, M., Cohen, Hadas, Oppenheim, D., Benyamini, Y., Orion, D., Bar-Eyal, Meira, Israeli, Y., and Gottlieb, J.

Published
1996
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33. Abstracts of papers presented at the 16th Congress of the Israeli Phytopathological Society: February 20–21, 1995 ARO, The Volcani Center, Bet Dagan, Israel

Author

Saranga, Y., Blachinsky, Daphna, Shtienberg, D., Ben-Hador, G., Dinoor, A., Einav, Dalia, Luria, G., Tsook, M., Hadar, Esther, Katan, J., Antignus, Y., Ben-Joseph, Rachel, Mor, Neta, Cohen, S., Zimand, Gilly, Elad, Y., Gagulashvilly, Nilly, Chet, I., Dubitzki, E., Shavit, N. Bar, Brodny, U., Wahl, I., Reuveni, M., Agapov, V., Oppenheim, D., Cohen, Hadas, Reuveni, R., Shaul, Orna, Pinkas, Y., Maymon, Marcell, Szmulewich, Y., Kritzman, G., Grinstein, A., Lev, E., Raviv, B., Gal-On, A., Singer, Sima, Raccah, B., Dudai, N., Putievsky, E., Cohen, Y., Baider, A., Rodov, V., Burns, P., Ben-Yehoshua, S., Afek, U., Aharoni, N., Carmeli, S., Tsror (Lahkim), Leah, Hazanovski, M., Daktiar, N., Erlich, Orly, Skutelsky, Yael, Matan, E., Arraf, G., Gamliel, A., Eshel, D., Klein, L., Peretz, I., Nachmias, A., Ucko, Orna, Austerweil, Miriam, Steiner, Bracha, Maduel, A., Manisterski, J., Ben-Yehuda, Pnina, Bar, E., Eyal, Z., Korakh, Tamar, Anikster, Y., Eilam, Tamar, Vintal, H., Stein, Tamar, Schuster, Silvi, Pnini-Cohen, Smadar, Zilberstein, Aviah, Zuckerman, E., Eshel, A., Huang, R., Gournik, A., Ganz, Shelly, Bahat, A., Bilitzer, N., Alon, D., Weinberg, B., Tamari, R., Levy, Y., Volpin, Hanne, Okon, Y., Kapulnik, Y., Freeman, S., Shabi, E., Elisha, S., Katan, Talma, Kleitman, Frida, Koroleva, Nadia, Bao, J. R., Boehm, E. W. A., Kistler, H. C., Bushnell, W. R., McLaughlin, D. J., Paster, N., Trostanetsky, A., Menasherov, Mazal, Bar-Zur, A., Meir, Ayala, Yarden, O., Shapira, R., Eyal, Osnat, Salomon, R., Cohen, R., Greenberg, Ronit, Shreiber, Shoshana, Katzir, Nurit, Manulis, Shulamit, Lichter, A., Nitzan, R., Valinsky, L., Barash, I., Madi, Lea, Ebbole, D. J., Yatzkan, Einat, Sharon, A., Yoder, O. C., Turgeon, B. G., Yogev, E., Zehavi, Tirza, Benyamini, Y., Epstein, R., Badawia, G., Cohen, Bat-Hen, Gornik, A., Ovadia, A., Baum, D., Cohen, Idit, Rivan, Yehudit, Levanon, I., Orion, D., Bar-Eyal, Meira, Israeli, Y., Mor, M., Sharon, Edna, Cohen, Lydia, Kahane, I., Spiegel, Y., Kaplan, I., Roossinck, M., Palukaitis, P., Franck, A., Gera, A., Loebenstein, G., Shlamovitz, Noemi, Spiegel-Roy, P., Tanne, Edna, Ganaim, N., Klein, M., Sikron, Noga, Cohen, J., Shoval, S., Lilien-Kipnis, Hanna, Kuperman, Adela, Judah, Elizabeth, Sandler-Ziv, Dorit, Yon, A., Koch, Margery, Levy, S., Tanami, Z., Boudon-Padieu, E., Kuszala, C., Oko, Orna, Kenig, A., Ben-Dar, M., Gafni, R., Perlsman, Malenia, Lewandowski, D. J., Dawson, W. O., Lapidot, M., Cooper, B., Dodds, J. A., and Beachy, R. N.

Published
1995
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36. Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

Author

Ng, J., Zhen, J., Meyer, E., Erreger, K., Li, Y., Kakar, N., Ahmad, J., Thiele, H., Kubisch, C., Rider, N. L., Morton, D. H., Holmes Morton, D., Strauss, K. A., Puffenberger, E. G., D'Agnano, Daniela, Anikster, Y., Carducci, Claudia, Hyland, K., Rotstein, M., Leuzzi, Vincenzo, Borck, G., Reith, M. E. A., and Kurian, M. A.

Subjects
dopamine transporter (dat), dopamine, dystonia, juvenile, parkinsonism, slc6a3
Published
2014

37. Abstracts of papers presented at the 8th Congress of the Phytopathological Society of Israel: May 25-26,1983 Bet Dagan, Israel

Author

Zentmyer, G. A., Pinkas, Y., Kariv, Arna, Kenneth, R., Zutra, D., Kritzman, G., Krikun, J., Nachmias, A., Offenbach, R., Ucko, O., Reuveni, R., Halfon-Meiri, Aliza, Cohen, Ronit, Younis, H., Azaizeh, M., Bashan, Y., Okon, Y., Frank, Z. R., Ben-Yephet, Y., Katan, J., Ashri, A., Levy, Y., Levy, Rachel, Cohen, Y., Adar, Y., Arenstein, Z., Yahalomy, Z., Biton, S., Mor, Neta, Keren, Y., Greenberger, A., Siti, E., Frank, Z., Hadas, S., Ben-Gal, Osnat, Shabtai, Y., Solomon, D., Atsmon, S. Y., Szmulewich, Y., Finkelstein, Edith, Yaakobi, C., Hershenhorn, J., Gerson, U., Jakoby, T., Sztejnberg, A., Anikster, Y., Sarig, Dalia, Sadeh, R., Chet, I., Bashi, Esther, Madar, Z., Binyamini, N., Eshed, Nava, Shteinberg, D., Dinoor, A., Segal, A., Eyal, Helena, Ruben, D., Manisterski, J., Reuveni, M., Samoucha, Y., Shabi, E., Marton, Kela, Zelig, Y., Elisha, S., Zeidan, O., Elad, Y., Hadar, Y., Mazar, S., Harman, G. E., Taylor, A. G., Norton, J. M., Straschnow, Y., Sivan, A., Kleifeld, O., Hetzroni, A., Grinstein, A., Antler, A., Alper, Y., Frankel, H., Ziv, O., Livescu, L., Keen, N. T., Afek, U., Goldschmidt, Z., Sklarz, B., Zilberstein, Y., Henis, Y., Glazer, I., Orion, D., Gera, A., Loebenstein, G., Goodman, R. N., Balass, M., Haas, J. H., Bar-Yosef, B., Leviov, Miriam, Lisker, N., Paster, N., Efraim, A. Ben, Cohen, E., Shachnai, A., Prusky, D., Eaks, I., Aharoni, Y., Barkai-Golan, Rivka, Aharoni, N., Philosoph-Hadas, Sonia, Tanne, Edna, Marco, S., Antignus, Y., Spiegel, Sara, Salomon, R., Alper, Miriam, Bar-Joseph, M., Oren, Y., Rosner, A., Ginzburg, Irit, Omary, N., Barnea, A., Maoz, A., Vigodsky-Haas, Hillela, Rieger-Stein, Adina, Levy, S., Dubitzky, E., Urielli, E., Ruben, Michal, Kirschner, B., Ozeri, Y., Kirshner, B., Lavi, Ayelet, and Eshel, M.

Published
1983
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39. Abstracts of papers presented at the 11th congress of the phytopathological society of Israel February 15–16,1988 Bar-Ilan University, Ramat Gan, Israel

Author

Loebenstein, G., Franck, A., Abir, H., Holin, M., Barak, E., Cohen, A., Chalutz, E., Ben-Arie, Ruth, Droby, S., Weiss, Batya, Karni, Leah, Kobiler, Ilana, Bar-Shira, Einav, Barkai-Golan, Rivka, Eyal, Helena, Kadish, D., Samoucha, Y., Bashan, Bilha, Levy, Y., Abadi, Rachel, Benderly, Michal, Meiri, A., Chet, I., Pe’er, Sara, Fahima, T., Katan, J., Henis, Y., Sztejnberg, A., Galper, S., Abo-Foul, S., Mandelbaum, R., Gorodetzki, Barbara, Hadar, Y., Bonne-Nitzani, Elinoar, Kenneth, R. G., Freeman, S., Gamliel, A., Peretz, E., Eshed, Nava, Shimshoni, Gilly, Elad, Y., Yona, I., Pinkas, Y., Yunis, H., Solel, Z., Volpin, Hanne, Zilberstein, Miryam, Ben-Yephet, Y., Szmulewich, Y., Kritzman, G., Kimchi, M., Katan, Talma, Kariv, Arna, Dori, S., Levy, Edna, Zelikovitch, Noga, Frumkin, O., Lisker, N., Wilson, C. L., Kleifeld, Y., Borg, D., Omary, N., Reuveni, R., Hadar, Esther, Ziv, O., Raviv, M., Allingham, Yael, Bar, R., Mahrer, Y., Gelerenter, Ilana, Zeharia, Jehudith, Anikster, Y., Rothchild, Hanna, Manisterski, J., Bar-Tsur, A., Tsror, Leah, Nachmias, A., Kaufman, Z., Livescu, L., Krikun, J., Orenstein, Janette, Perombelon, M., Ben-Hur, M., Tibor, M., Dinoor, A., Prusky, D., Levanony, Hanna, Bashan, Y., Or, R., Siti, E., Bruton, B. D., Jeger, M. J., Tamari, R., Grinstein, A., Frankel, H., Austerweil, Miriam, Rivan, Yehudith, Shtainer, Bracha, Madar, Z., Greenberger, A., Baum, D., Eyal, Z., Danon, Tamar, Hershenhorn, J., Barash, I., Kobiler, D., Jacoby, B., Blumental-Yonassi, Jill, Paster, N., Ben-Ze’ev, I. S., Frank, A., Bar-Joseph, M., and Koltin, Y.

Published
1988
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40. Abstracts of papers presented at the first Israeli-Italian phytopathological symposium: February 13–15, 1989 Bet Dagan, Israel

Author

Kenneth, R. G., Ankster, Y., Manistersh, J., Wahl, I., Manisterski, J., Ragazzi, A., Moriondo, F., Moriondo, B. Naldini, Anikster, Y., Ordentuch, A., Migheli, Q., Sivan, A., Gambaldi, A., Noi, Lea, Henk, Y., Pe’Er, Sara, Chet, I., Sztejnberg, A., Locci, R., Minardi, Paola, Stefani, E., Mazzucchi, U., Manulis, Shulamit, Clark, Ellen, Ophir, Y., Gafni, Y., Barba, Marina, Rollo, F., Catara, A., Amici, A., Di Silvestro, I., Scala, F., Capparelli, R., Iannelu, D., Noviello, C., Prusky, D., Saka, H., Magro, P., Marciano, P., Varon, F. FA, Bottalico, A., Visconti, A., Logrieco, A., Nachmias, A., Orenstein, Jannete, Livescu, L., Graniti, A., Raddi, P., Panconesi, A., Matta, A., Gentile, I. Abbattista, Ferraris, L., Scala, A., Barash, L, Bitan, N., Kordova, I., Krdcun, J., Nachmias, A., Zacheo, G., Elad, Y., Ayish, N., Ziv, O., Tettel, D. C., Aharoni, Y., Barkai-Golan, R., Elad, Y., Katan, Talma, Gullino, M. L., Aloi, C., Garibaldi, A., Carita, G., Greco, N., Vannaci, G., Triolo, E., Greenberger, A., Freeman, S., Gamliel, A., Yogev, A., Katan, J., Gamliel, A., Katan, J., Tanne, Edna, Raccah, B., Marcus, Ruth, Lli, G., Prati, S., Conti, M., Eynard, A., Piazzolla, P., Faccoli, G., Forni, M., Kritzman, G., Krtzman, G., Grinstein, A., Riven, Yehuduh, Warshavsky, S., Frankel, H., Bazzi, C., Burr, T. J., Surico, G., Bashan, Bilha, Levy, Y., Cohen, Y., Shacham, Zohar Keren, Lisker, N., Ben-Arie, Ruth, Rossi, V., Battilani, P., Brodny, U., Vannacci, G., Porta-Puglia, A., and Delogu, G.

Published
1989
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41. Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia

Author

Bar-Joseph, I., Pras, E., Reznik-Wolf, H., Marek-Yagel, D., Abu-Horvitz, A., Dushnitzky, M., Goldstein, N., Rienstein, S., Dekel, M., Pode-Shakked, B., Zlotnik, J., Benarrosh, A., Gillery, P., Hofliger, N., Auray-Blais, C., Garnotel, R., Anikster, Y., Matrice extracellulaire et dynamique cellulaire - UMR 7369 (MEDyC), Université de Reims Champagne-Ardenne (URCA)-SFR CAP Santé (Champagne-Ardenne Picardie Santé), and Université de Reims Champagne-Ardenne (URCA)-Université de Picardie Jules Verne (UPJV)-Université de Reims Champagne-Ardenne (URCA)-Université de Picardie Jules Verne (UPJV)-Centre National de la Recherche Scientifique (CNRS)

Subjects
ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2012

43. Genome Size in Diploids, Allopolyploids, and Autopolyploids of Mediterranean Triticeae

Author

Eilam, T., Anikster, Y., Millet, E., Manisterski, J., and Feldman, M.

Subjects
Article Subject, fungi
Abstract

Nuclear DNA amount, determined by the flow cytometry method, in diploids, natural and synthetic allopolyploids, and natural and synthetic autopolyploids of the tribe Triticeae (Poaceae) is reviewed here and discussed. In contrast to the very small and nonsignificant variation in nuclear DNA amount that was found at the intraspecific level, the variation at the interspecific level is very large. Evidently changes in genome size are either the cause or the result of speciation. Typical autopolyploids had the expected additive DNA amount of their diploid parents, whereas natural and synthetic cytologically diploidized autopolyploids and natural and synthetic allopolyploids had significantly less DNA than the sum of their parents. Thus, genome downsizing, occurring during or immediately after the formation of these polyploids, provides the physical basis for their cytological diploidization, that is, diploid-like meiotic behavior. Possible mechanisms that are involved in genome downsizing and the biological significance of this phenomenon are discussed.

Published
2010
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44. NG.O.12 - A novel inborn error of the Coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-Methyltransferase deficiency

Author

Malicdan, M., Vilboux, T., Ben-Zeev, B., Guo, J., Eliyahu, A., Pode-Shakked, B., Dori, A., Kakani, S., Chandrasekharappa, S., Ferreira, C., Shelestovich, N., Marek-Yagel, D., Pri-Chen, H., Blat, I., Niederhuber, J., Toro, C., Deeken, J., Yardeni, T., Wallace, D., Gahl, W., and Anikster, Y.

Published
2017
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46. Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.

Author

Shahrour, M.A., Staretz‐Chacham, O., Dayan, D., Stephen, J., Weech, A., Damseh, N., Pri Chen, H., Edvardson, S., Mazaheri, S., Saada, A., Hershkovitz, E., Shaag, A., Huizing, M., Abu‐Libdeh, B., Gahl, W.A, Azem, A., Anikster, Y., Vilboux, T., Elpeleg, O., and Malicdan, M.C.

Subjects
MITOCHONDRIA, PEOPLE with epilepsy, HEPATIC encephalopathy, INTELLECTUAL disabilities, GENETIC mutation
Abstract

Mitochondrial encephalopathies are a heterogeneous group of disorders that, usually carry grave prognosis. Recently a homozygous mutation, Gly372Ser, in the TIMM50 gene, was reported in an abstract form, in three sibs who suffered from intractable epilepsy and developmental delay accompanied by 3-methylglutaconic aciduria. We now report on four patients from two unrelated families who presented with severe intellectual disability and seizure disorder, accompanied by slightly elevated lactate level, 3-methylglutaconic aciduria and variable deficiency of mitochondrial complex V. Using exome analysis we identified two homozygous missense mutations, Arg217Trp and Thr252Met, in the TIMM50 gene. The TIMM50 protein is a subunit of TIM23 complex, the mitochondrial import machinery. It serves as the major receptor in the intermembrane space, binding to proteins which cross the mitochondrial inner membrane on their way to the matrix. The mutations, which affected evolutionary conserved residues and segregated with the disease in the families, were neither present in large cohorts of control exome analyses nor in our ethnic specific exome cohort. Given the phenotypic similarity, we conclude that missense mutations in TIMM50 are likely manifesting by severe intellectual disability and epilepsy accompanied by 3-methylglutaconic aciduria and variable mitochondrial complex V deficiency. 3-methylglutaconic aciduria is emerging as an important biomarker for mitochondrial dysfunction, in particular for mitochondrial membrane defects. [ABSTRACT FROM AUTHOR]

Published
2017
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47. Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.

Author

Pode‐Shakked, B., Barash, H., Ziv, L., Gripp, K.W., Flex, E., Barel, O., Carvalho, K.S., Scavina, M., Chillemi, G., Niceta, M., Eyal, E., Kol, N., Ben‐Zeev, B., Bar‐Yosef, O., Marek‐Yagel, D., Bertini, E., Duker, A.L., Anikster, Y., Tartaglia, M., and Raas‐Rothschild, A.

Subjects
MICROCEPHALY, SPASMS, MOLECULAR chaperones, TUBULINS, PROTEINS
Abstract

Microtubule dynamics play a crucial role in neuronal development and function, and several neurodevelopmental disorders have been linked to mutations in genes encoding tubulins and functionally related proteins. Most recently, variants in the tubulin cofactor D ( TBCD) gene, which encodes one of the five co-chaperones required for assembly and disassembly of α/β-tubulin heterodimer, were reported to underlie a recessive neurodevelopmental/neurodegenerative disorder. We report on five patients from three unrelated families, who presented with microcephaly, intellectual disability, intractable seizures, optic nerve pallor/atrophy, and cortical atrophy with delayed myelination and thinned corpus callosum on brain imaging. Exome sequencing allowed the identification of biallelic variants in TBCD segregating with the disease in the three families. TBCD protein level was significantly reduced in cultured fibroblasts from one patient, supporting defective TBCD function as the event underlying the disorder. Such reduced expression was associated with accelerated microtubule re-polymerization. Morpholino-mediated TBCD knockdown in zebrafish recapitulated several key pathological features of the human disease, and TBCD overexpression in the same model confirmed previous studies documenting an obligate dependency on proper TBCD levels during development. Our findings confirm the link between inactivating TBCD variants and this newly described chaperone-associated tubulinopathy, and provide insights into the phenotype of this disorder. [ABSTRACT FROM AUTHOR]

Published
2017
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49. NTBC and alkaptonuria

Author

Anikster, Y, Nyhan, W L, and Gahl, W A

Subjects
Homogentisate 1,2-Dioxygenase, Letter, Oxygenases, Humans, Point Mutation, Genetic Therapy, Alkaptonuria, Dioxygenases
Published
1998

50. The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel

Author

Elpeleg, O. N., Anikster, Y., Barash, V., Branski, D., and Shaag, A.

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Base Sequence, Canavan Disease, Genetic Carrier Screening, Molecular Sequence Data, Genes, Recessive, Amidohydrolases, Gene Frequency, Jews, Humans, Point Mutation, Israel, Research Article, DNA Primers
Abstract

Canavan disease (CD) is an infantile neurodegenerative disease that is transmitted in an autosomal recessive manner and has mainly been reported in Ashkenazi Jewish families. The primary enzymatic defect is aspartoacylase deficiency, and an A-to-C transition at nucleotide 854 of the cDNA has recently been reported. We screened 18 patients with CD and 879 healthy individuals, all Israeli Ashkenazi Jews, for the mutation. All 18 patients were homozygotes for the mutation, and 15 heterozygotes were found among the healthy individuals. The results disclose a carrier rate of 1:59 and suggest that a screening for the mutation is warranted among Ashkenazi Jewish couples.

Published
1994

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