Search Results - "Kadir, Rotem"

Regulation of CHD2 expression by the Chaserr long noncoding RNA gene is essential for viability by Rom, Aviv, Melamed, Liliya, Gil, Noa, Goldrich, Micah Jonathan, Kadir, Rotem, Golan, Matan, Biton, Inbal, Perry, Rotem Ben-Tov, Ulitsky, Igor

“…Chromodomain helicase DNA binding protein 2 ( Chd2 ) is a chromatin remodeller implicated in neurological disease. Here we show that Chaserr , a highly…”
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SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome by Perez, Yonatan, Shorer, Zamir, Liani-Leibson, Keren, Chabosseau, Pauline, Kadir, Rotem, Volodarsky, Michael, Halperin, Daniel, Barber-Zucker, Shiran, Shalev, Hanna, Schreiber, Ruth, Gradstein, Libe, Gurevich, Evgenia, Zarivach, Raz, Rutter, Guy A, Landau, Daniel, Birk, Ohad S

“…A novel autosomal recessive cerebro-renal syndrome was identified in consanguineous Bedouin kindred: neurological deterioration was evident as of early age,…”
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Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase by Drabkin, Max, Yogev, Yuval, Zeller, Lior, Zarivach, Raz, Zalk, Ran, Halperin, Daniel, Wormser, Ohad, Gurevich, Evgenia, Landau, Daniel, Kadir, Rotem, Perez, Yonatan, Birk, Ohad S

“…Gout is caused by deposition of monosodium urate crystals in joints when plasma uric acid levels are chronically elevated beyond the saturation threshold,…”
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SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome by Wormser, Ohad, Gradstein, Libe, Yogev, Yuval, Perez, Yonatan, Kadir, Rotem, Goliand, Inna, Sadka, Yair, El Riati, Saad, Flusser, Hagit, Nachmias, Dikla, Birk, Ruth, Iraqi, Muhamad, Kadar, Einat, Gat, Roni, Drabkin, Max, Halperin, Daniel, Horev, Amir, Sivan, Sara, Abdu, Uri, Elia, Natalie, Birk, Ohad S

“…Studies of ciliopathies have served in elucidating much of our knowledge of structure and function of primary cilia. We report humans with Bardet-Biedl…”
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ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size by Kadir, Rotem, Harel, Tamar, Markus, Barak, Perez, Yonatan, Bakhrat, Anna, Cohen, Idan, Volodarsky, Michael, Feintsein-Linial, Miora, Chervinski, Elana, Zlotogora, Joel, Sivan, Sara, Birnbaum, Ramon Y, Abdu, Uri, Shalev, Stavit, Birk, Ohad S

“…Primary microcephaly is a congenital neurodevelopmental disorder of reduced head circumference and brain volume, with fewer neurons in the cortex of the…”
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Localization of the Drosophila Rad9 protein to the nuclear membrane is regulated by the C-terminal region and is affected in the meiotic checkpoint by Kadir, Rotem, Bakhrat, Anna, Tokarsky, Ronit, Abdu, Uri

“…Rad9, Rad1, and Hus1 (9-1-1) are part of the DNA integrity checkpoint control system. It was shown previously that the C-terminal end of the human Rad9…”
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Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase by Cohen, Idan, Silberstein, Eldad, Perez, Yonatan, Landau, Daniella, Elbedour, Khalil, Langer, Yshaia, Kadir, Rotem, Volodarsky, Michael, Sivan, Sara, Narkis, Ginat, Birk, Ohad S

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Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish by Perez, Yonatan, Bar-Yaacov, Reut, Kadir, Rotem, Wormser, Ohad, Shelef, Ilan, Birk, Ohad S, Flusser, Hagit, Birnbaum, Ramon Y

“…Microcephaly is a genetically heterogeneous disorder. Through molecular genetic studies, Perez et al. demonstrate that homozygous loss-of-function mutations in…”
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ZNF142 mutation causes sex-dependent neurologic disorder by Proskorovski-Ohayon, Regina, Eskin-Schwartz, Marina, Shorer, Zamir, Kadir, Rotem, Halperin, Daniel, Drabkin, Max, Yogev, Yuval, Aharoni, Sarit, Hadar, Noam, Cohen, Hagit, Eremenko, Ekaterina, Perez, Yonatan, Birk, Ohad S

“…Sex-specific predilection in neurological diseases caused by mutations in autosomal genes is a phenomenon whose molecular basis is poorly understood. We…”
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UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN by Perez, Yonatan, Kadir, Rotem, Volodarsky, Michael, Noyman, Iris, Flusser, Hagit, Shorer, Zamir, Gradstein, Libe, Birnbaum, Ramon Y, Birk, Ohad S

“…A syndrome of profound hypotonia, intellectual disability, intrauterine growth retardation with subsequent failure to thrive, dyskinesia and epilepsy was…”
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VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2) by Feinstein, Miora, Flusser, Hagit, Lerman-Sagie, Tally, Ben-Zeev, Bruria, Lev, Dorit, Agamy, Orly, Cohen, Idan, Kadir, Rotem, Sivan, Sara, Leshinsky-Silver, Esther, Markus, Barak, Birk, Ohad S

“…Progressive cerebello-cerebral atrophy (PCCA) leading to profound mental retardation, progressive microcephaly, spasticity and early onset epilepsy, was…”
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SEC31A mutation affects ER homeostasis, causing a neurological syndrome by Halperin, Daniel, Kadir, Rotem, Perez, Yonatan, Drabkin, Max, Yogev, Yuval, Wormser, Ohad, Berman, Erez M, Eremenko, Ekaterina, Rotblat, Barak, Shorer, Zamir, Gradstein, Libe, Shelef, Ilan, Birk, Ruth, Abdu, Uri, Flusser, Hagit, Birk, Ohad S

“…Consanguineous kindred presented with an autosomal recessive syndrome of intrauterine growth retardation, marked developmental delay, spastic quadriplegia with…”
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RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3 by Perez, Yonatan, Menascu, Shay, Cohen, Idan, Kadir, Rotem, Basha, Omer, Shorer, Zamir, Romi, Hila, Meiri, Gal, Rabinski, Tatiana, Ofir, Rivka, Yeger-Lotem, Esti, Birk, Ohad S

“…RSRC1 polymorphisms are associated with altered brain function in schizophrenia. Perez et al. show that an RSRC1 mutation causes intellectual disability,…”
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Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation by Perez, Yonatan, Gradstein, Libe, Flusser, Hagit, Markus, Barak, Cohen, Idan, Langer, Yshaia, Marcus, Mira, Lifshitz, Tova, Kadir, Rotem, Birk, Ohad S

“…Foveal hypoplasia, always accompanied by nystagmus, is found as part of the clinical spectrum of various eye disorders such as aniridia, albinism and…”
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PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay by Proskorovski‐Ohayon, Regina, Kadir, Rotem, Michalowski, Analia, Flusser, Hagit, Perez, Yonatan, Hershkovitz, Eli, Sivan, Sara, Birk, Ohad S.

“…PAX7 encodes a transcription factor essential in neural crest formation, myogenesis, and pituitary lineage specification. Pax7 null mice fail to thrive and…”
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Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase by Cohen, Idan, Silberstein, Eldad, Perez, Yonatan, Landau, Daniella, Elbedour, Khalil, Langer, Yshaia, Kadir, Rotem, Volodarsky, Michael, Sivan, Sara, Narkis, Ginat, Birk, Ohad S

“…Autosomal recessive Adams-Oliver syndrome was diagnosed in three remotely related Bedouin consanguineous families. Genome-wide linkage analysis ruled out…”
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PPARγ regulates exocrine pancreas lipase by Danino, Hila, Naor, Ronny Peri, Fogel, Chen, Ben-Harosh, Yael, Kadir, Rotem, Salem, Hagit, Birk, Ruth

“…Pancreatic lipase (triacylglycerol lipase EC 3.1.1.3) is an essential enzyme in hydrolysis of dietary fat. Dietary fat, especially polyunsaturated fatty acids…”
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Progressive hereditary spastic paraplegia caused by a homozygous KY mutation by Yogev, Yuval, Perez, Yonatan, Noyman, Iris, Madegem, Anwar Abu, Flusser, Hagit, Shorer, Zamir, Cohen, Eugene, Kachko, Leonid, Michaelovsky, Analia, Birk, Ruth, Koifman, Arie, Drabkin, Max, Wormser, Ohad, Halperin, Daniel, Kadir, Rotem, Birk, Ohad S

“…Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive progressive spastic paraplegia evident as of age 0-24 months, with…”
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A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion by Cohen, Idan, Staretz‐Chacham, Orna, Wormser, Ohad, Perez, Yonatan, Saada, Ann, Kadir, Rotem, Birk, Ohad S.

“…SLC25A1 mutations are associated with combined D,L‐2‐hydroxyglutaric aciduria (DL‐ 2HGA; OMIM #615182), characterized by muscular hypotonia, severe…”
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CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay by Volodarsky, Michael, Lichtig, Hava, Leibson, Tom, Sadaka, Yair, Kadir, Rotem, Perez, Yonatan, Liani-Leibson, Keren, Gradstein, Libe, Shaco-Levy, Ruthy, Shorer, Zamir, Frank, Dale, Birk, Ohad S

“…Siblings of non-consanguineous Jewish-Ethiopian ancestry presented with congenital axial hypotonia, weakness of the abducens nerve, psychomotor developmental…”
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