Search Results - (Author, Cooperation:D. Wieczorek)
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1H. Najmabadi ; H. Hu ; M. Garshasbi ; T. Zemojtel ; S. S. Abedini ; W. Chen ; M. Hosseini ; F. Behjati ; S. Haas ; P. Jamali ; A. Zecha ; M. Mohseni ; L. Puttmann ; L. N. Vahid ; C. Jensen ; L. A. Moheb ; M. Bienek ; F. Larti ; I. Mueller ; R. Weissmann ; H. Darvish ; K. Wrogemann ; V. Hadavi ; B. Lipkowitz ; S. Esmaeeli-Nieh ; D. Wieczorek ; R. Kariminejad ; S. G. Firouzabadi ; M. Cohen ; Z. Fattahi ; I. Rost ; F. Mojahedi ; C. Hertzberg ; A. Dehghan ; A. Rajab ; M. J. Banavandi ; J. Hoffer ; M. Falah ; L. Musante ; V. Kalscheuer ; R. Ullmann ; A. W. Kuss ; A. Tzschach ; K. Kahrizi ; H. H. Ropers
Nature Publishing Group (NPG)
Published 2011Staff ViewPublication Date: 2011-09-23Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Brain/metabolism/physiology ; Cell Cycle ; Cognition Disorders/*genetics ; Consanguinity ; DNA Mutational Analysis ; Exons/genetics ; Gene Regulatory Networks ; Genes, Essential/genetics ; Genes, Recessive/*genetics ; *High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; Intellectual Disability/*genetics ; Metabolic Networks and Pathways ; Mutation/genetics ; Organ Specificity ; Synapses/metabolismPublished by: -
2H. He ; S. Liyanarachchi ; K. Akagi ; R. Nagy ; J. Li ; R. C. Dietrich ; W. Li ; N. Sebastian ; B. Wen ; B. Xin ; J. Singh ; P. Yan ; H. Alder ; E. Haan ; D. Wieczorek ; B. Albrecht ; E. Puffenberger ; H. Wang ; J. A. Westman ; R. A. Padgett ; D. E. Symer ; A. de la Chapelle
American Association for the Advancement of Science (AAAS)
Published 2011Staff ViewPublication Date: 2011-04-09Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Cell Line ; Chromosomes, Human, Pair 2/genetics ; Dwarfism/genetics/metabolism ; Female ; Fetal Growth Retardation/genetics/metabolism ; Humans ; Introns ; Inverted Repeat Sequences ; Male ; Microcephaly/genetics/metabolism ; *Mutation ; Nucleic Acid Conformation ; Osteochondrodysplasias/genetics/metabolism ; Pedigree ; *RNA Splicing ; RNA, Small Nuclear/chemistry/*genetics/metabolism ; Spliceosomes/*genetics/metabolismPublished by: -
3Staff View
ISSN: 0009-2614Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: Chemistry and PharmacologyPhysicsType of Medium: Electronic ResourceURL: -
4Zajdel, R. W. ; McLean, M. D. ; Isitmangil, G. ; Lemanski, L. F. ; Wieczorek, D. F. ; Dube, D. K.
Springer
Published 2000Staff ViewISSN: 1432-0568Keywords: Key words Oligonucleotide ; Antibody ; Tropomyosin ; Myofibril ; TransfectionSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract A precise organization of contractile proteins is essential for contraction of heart muscle. Without a necessary stoichiometry of proteins, beating is not possible. Disruption of this organization can be seen in diseases such as familial hypertrophic cardiomyopathy and also in acquired diseases. In addition, isoform diversity may affect contractile properties in such functional adaptations as cardiac hypertrophy. The Mexican axolotl provides an uncommon model in which to examine specific proteins involved with myofibril formation in the heart. Cardiac mutant embryos lack organized myofibrils and have altered expression of contractile proteins. In order to replicate the disruption of myofibril formation seen in mutant hearts, we have developed procedures for the introduction of contractile protein antibodies into normal hearts. Oligonucleotides specific to axolotl tropomyosin isoforms (ATmC-1 and ATmC-3), were also successfully introduced into the normal hearts. The antisense ATmC-3 oligonucleotide disrupted myofibril formation and beating, while the sense strands did not. A fluorescein-tagged sense oligonucleotide clearly showed that the oligonucleotide is introduced within the cells of the intact hearts. In contrast, ATmC-1 anti-sense oligonucleotide did not cause a disruption of the myofibrillar organization. Specifically, tropomyosin expression can be disrupted in normal hearts with a lack of organized myofibrils. In a broader approach, these procedures for whole hearts are important for studying myofibril formation in normal hearts at the DNA, RNA, and/or protein levels and can complement the studies of the cardiac mutant phenotype. All of these tools taken together present a powerful approach to the elucidation of myofibrillogenesis and show that embryonic heart cells can incorporate a wide variety of molecules with cationic liposomes.Type of Medium: Electronic ResourceURL: -
5Staff View
ISSN: 0942-0940Keywords: Free amino acids ; cerebrospinal fluid ; myelopathy ; radiculopathySource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Summary 18 different free amino acids were determined in the cerebrospinal fluid of 28 patients with various spinal space—occupying lesions. The study group included 15 patients with lumbar disc lesions (control group), 8 patients with cervical radiculopathy, 4 patients with cervical myelopathy, and 1 patient with a thoracic spinal angioma. The values from the control group were in general accord with those previously observed in normal adults of 5 studies of the literature. Comparison of the values in the different subgroups showed normal values of all amino acids in patients with cervical myelopathy, and significantly higher levels of glutamic acid in patients with cervical radiculopathy. In the case of a thoracic spinal angioma however most free amino acids were extremely high. The authors conclude that this may be due to alterations of the spinal metabolism and that determination of free amino acids in CSF of patients with intradural spinal lesions may help to improve preoperative diagnosis in addition to neuroradiological methods.Type of Medium: Electronic ResourceURL: -
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ISSN: 1573-5028Keywords: Brassica napus ; ethylene ; extensins ; organ-specific gene regulation ; woundingSource: Springer Online Journal Archives 1860-2000Topics: BiologyNotes: Abstract We have analysed the expression of the endogenous extensin genes in Brassica napus, using northern hybridisation and dot blotting. In the unstressed plant, the extA gene is only expressed in the root, expression in the leaf, petiole and stem being absent. We have found that wounding dramatically alters this normal pattern of expression. Expression in wounded leaf is seen after 36 h, in wounded petioles after 11 h and in wounded stem after 17 h. Differences in the amount of extensin mRNA accumulated are also seen: wounded petiole accumulating extensin message to a level higher than the leaf or the stem. Inhibitors of ethylene biosynthesis greatly delay the onset of accumulation of extensin mRNA in wounded tissues. Wounding the root causes the level of extensin message to decline with time, until levels below the limit of non-specific hybridisation are reached 11 h after wounding. Thus, application of the wounding stimulus results in the accumulation of extensin gene transcripts to different degrees and at different times in the aerial parts of the plant, and results in a decline in the same transcripts in the roots. Extensin transcript accumulation as a result of wounding is also dependent on the age of the tissue; high levels of message are seen in old wounded leaves, while expression in young wounded leaves is absent.Type of Medium: Electronic ResourceURL: -
7Staff View
ISSN: 1588-2780Source: Springer Online Journal Archives 1860-2000Topics: Chemistry and PharmacologyEnergy, Environment Protection, Nuclear Power EngineeringNotes: Abstract This study performs a rapid in-situ effective dose equivalent evaluation using SLD. The effective dose equivalent recommended by ICRP-26 allows the direct calculation of the primary personnel limiting quantity by measuring the dose equivalent in various internal organs or tissues. Therefore, an indigenous multislab phantom coupled with the SLD multicounting system is set up to evaluate the effective dose equivalent, H E . Moreover, MCNP computational results are also compared. Comparisons indicate that underestimation of practical evaluations (within −15%) may be largely attributed to the insensitive nature of SLD in measuring the γ-ray induced dose.Type of Medium: Electronic ResourceURL: