Zobrazeno 101 - 110
of 297
pro vyhledávání: '"Orly Elpeleg"'
Autor:
Yoav Zehavi, Avraham Shaag, Sarit Ravid, Ronen Spiegel, Hanna Mandel, Erwin E. W. Jansen, Orly Elpeleg, Ayelet Eran, Muhammad Abu Rashid, Ann Saada, Mirjam M.C. Wamelink
Publikováno v:
METABOLIC BRAIN DISEASE, 34(2), 557-563. Springer New York
Zehavi, Y, Mandel, H, Eran, A, Ravid, S, Abu Rashid, M, Jansen, E E W, Wamelink, M M C, Saada, A, Shaag, A, Elpeleg, O & Spiegel, R 2019, ' Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review ', METABOLIC BRAIN DISEASE, vol. 34, no. 2, pp. 557-563 . https://doi.org/10.1007/s11011-019-0384-x
Zehavi, Y, Mandel, H, Eran, A, Ravid, S, Abu Rashid, M, Jansen, E E W, Wamelink, M M C, Saada, A, Shaag, A, Elpeleg, O & Spiegel, R 2019, ' Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review ', METABOLIC BRAIN DISEASE, vol. 34, no. 2, pp. 557-563 . https://doi.org/10.1007/s11011-019-0384-x
D-glycerate 2 kinase (DGK) is an enzyme that mediates the conversion of D-glycerate, an intermediate metabolite of serine and fructose metabolism, to 2-phosphoglycerate. Deficiency of DGK leads to accumulation of D-glycerate in various tissues and it
Autor:
Polina, Stepensky, Baerbel, Keller, Oded, Shamriz, Caroline, von Spee-Mayer, David, Friedmann, Bella, Shadur, Susanne, Unger, Sebastian, Fuchs, Adeeb, NaserEddin, Nisreen, Rumman, Sara, Amro, Vered, Molho Pessach, Omar, Abuzaitoun, Raz, Somech, Orly, Elpeleg, Stephan, Ehl, Klaus, Warnatz
Publikováno v:
Journal of clinical immunology. 38(4)
All reported patients with hypomorphic X-linked severe combined immunodeficiency (X-SCID) due to c.664CT (p.R222C) mutations in the gene (IL2RG) encoding the common γ chain (γc) have presented with opportunistic infections within the first year of
Autor:
Polina Stepensky, Orly Elpeleg, Klaus Warnatz, Shoshana Revel-Vilk, Ute Fischer, Anne Rensing-Ehl, Schafiq Nabhani, Bärbel Keller, Andrea Hönscheid, Michael Gombert, Avraham Shaag, Arndt Borkhardt, Laura Gámez-Díaz, Hani Saleh, Bodo Grimbacher
Publikováno v:
Clinical Immunology. 159:84-92
Mutations in LPS-responsive and beige-like anchor (LRBA) gene were recently described in patients with combined immunodeficiency, enteropathy and autoimmune cytopenia. Here, we extend the clinical and immunological phenotypic spectrum of LRBA associa
Autor:
Lucia Zalman, Morad Khayat, Ariel Koren, Stavit Allon Shalev, Ihsan Salama, Hagit Hauschner, Nurit Rosenberg, Boris Shenkman, Carina Levin, Etheresia Pretorius, Orly Elpeleg
Publikováno v:
Journal of Thrombosis and Haemostasis. 13:1285-1292
SummaryBackground The FYB gene encodes adhesion and degranulation-promoting adaptor protein (ADAP), a hematopoietic-specific protein involved in platelet activation, cell motility and proliferation, and integrin-mediated cell adhesion. No ADAP-relate
Autor:
Wendy K. Chung, Motee Al-Ashhab, Nadirah Damseh, Matthias A. Hediger, Barak Yaacov, Alexandre Simonin, Orly Elpeleg, Aida Telegrafi, Julie Neidich, Jane Juusola, John Pappas, Sherri J. Bale, Kyle Retterer, Joseph A. Picoraro, Bassam Abu-Libdeh, Ellen Moran, Kwame Anyane Yeboa, Avraham Shaag, Simon Edvardson, Megan T. Cho, Chaim Jalas, Joshua Cappell
Publikováno v:
Journal of Medical Genetics. 52:541-547
Background L-serine plays an essential role in neuronal development and function. Although a non-essential amino acid, L-serine must be synthesised within the brain because of its poor permeability by the blood–brain barrier. Within the brain, its
Autor:
Benjamin Ellazam, Hana Antonicka, Alexandre Janer, Orly Elpeleg, Neil Webb, Grant A. Mitchell, Catherine Brunel-Guitton, Steven Salomon, Florin Sasarman, Eric A. Shoubridge, Catalina Maftei, Isabelle Thiffault, Woranontee Weraarpachai, Julie Gauthier
Publikováno v:
Human Molecular Genetics. 24:2841-2847
Addition of the trinucleotide cytosine/cytosine/adenine (CCA) to the 3' end of transfer RNAs (tRNAs) is essential for translation and is catalyzed by the enzyme TRNT1 (tRNA nucleotidyl transferase), which functions in both the cytoplasm and mitochond
Autor:
Stephan Ehl, Vered Molho Pessach, Hermann Eibel, Polina Stepensky, Orly Elpeleg, Anne Rensing-Ehl, Ruth Gather, Elke Firat, Ute Fischer, Simon Zenke, Klaus Warnatz, Tim H. Brümmendorf, Gabriele Niedermann, Fabian Beier, Shoshana Revel-Vilk, Schafiq Nabhani, Arndt Borkhardt, Sebastian W. Fuchs, Bärbel Keller, Mirzokhid Rakhmanov
Publikováno v:
Blood. 125:753-761
Autoimmune cytopenia is a frequent manifestation of primary immunodeficiencies. Two siblings presented with Evans syndrome, viral infections, and progressive leukopenia. DNA available from one patient showed a homozygous frameshift mutation in tripep
Autor:
Barak Yaacov, Ruth Sheffer, Vardiella Meiner, Moshe Gomori, Marion Werner, Duha Fahham, Orly Elpeleg, Irene Anteby, Ayala Frumkin, Odeya Bennett-Back, Simon Edvardson
Publikováno v:
neurogenetics. 16:23-26
Hindbrain malformations with predominant cerebellar involvement have many causes including chromosomal disorders, specific genetic syndromes, and prenatal disruptions. The combination of a hindbrain malformation and myoclonic epilepsy is rare. Using
Autor:
Véronique Darmency, Sharon Whiting, Laurence Faivre, Jean-François Deleuze, Daniel H. Lowenstein, Julien Thevenon, Rebecca Hernan, Matthew A. Lines, Orly Elpeleg, Yannis Duffourd, Corinne Antignac, Mirna Assoum, Erin L. Heinzen, Martine Lemesle, Christel Thauvin-Robinet, Aurélie Bertholet-Thomas, Wendy K. Chung, Orrin Devinsky, Eric B. Geller, Vincent des Portes, Alexandre Belot, Simon Edvardson
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2018, 176 (11), pp.2470-2478. ⟨10.1002/ajmg.a.40357⟩
American Journal of Medical Genetics Part A, 2018, 176 (11), pp.2470-2478. ⟨10.1002/ajmg.a.40357⟩
American Journal of Medical Genetics Part A, Wiley, 2018, 176 (11), pp.2470-2478. ⟨10.1002/ajmg.a.40357⟩
American Journal of Medical Genetics Part A, 2018, 176 (11), pp.2470-2478. ⟨10.1002/ajmg.a.40357⟩
IF 2.264; International audience; De novo mutations of the TRIM8 gene, which codes for a tripartite motif protein, have been identified using whole exome sequencing (WES) in two patients with epileptic encephalopathy (EE), but these reports were not
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood
Autor:
Avraham Shaag, Berivan Baskin, Zöe Powis, Amber Begtrup, Katelyn Payne, Claudia M. Nicolae, Orly Elpeleg, Chitra Prasad, Asuri N. Prasad, Boris Keren, George Lucian Moldovan, Laurie S. Sadler, Caroline Nava, Cyril Mignot, Simon Edvardson, Thomas E. Mullen, Pankaj B. Agrawal
Publikováno v:
Paediatrics Publications
Summary Ribosomal RNA (rRNA) is transcribed from rDNA by RNA polymerase I (Pol I) to produce the 45S precursor of the 28S, 5.8S, and 18S rRNA components of the ribosome. Two transcription factors have been defined for Pol I in mammals, the selectivit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e7d9d0f19838b206aaec60f469059b9
https://ir.lib.uwo.ca/paedpub/88
https://ir.lib.uwo.ca/paedpub/88