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  1. AU="Rumyantseva, N"
  2. AU="Torres, Gerardo M"
  3. AU="Qi, Nan"
  4. AU="Pinto, Daniel"
  5. AU="M Serrano-Martin"
  6. AU="Stefano Cacciaguerra"
  7. AU=Ochs Matthias
  8. AU="Ownby, Raymond L"
  9. AU="Belhouchat, Khadidja"
  10. AU="Hulsman, J"
  11. AU="Hadoke, Patrick W F"
  12. AU="Isermann, Philipp"
  13. AU="Polishchuk, Ilya"
  14. AU=Jalali Rostam
  15. AU="Baek, Kyoung Eun"
  16. AU="Gordon, Jay E"
  17. AU="Huang, Mingsheng"
  18. AU="Karkowski, L"
  19. AU="Rana, Punam"
  20. AU=Kawasaki Shunsuke
  21. AU="Oliveira-Júnior, Gersiel"
  22. AU="Alvarado-Aguilar, Pablo"
  23. AU="Kyrin R. Hanning" AU="Kyrin R. Hanning"
  24. AU="Teixidor, Francesc"
  25. AU=Minhas Jasmit
  26. AU="Poe, Alyssa"
  27. AU="Ni, Bo"
  28. AU="Vemuri, Kiranmayi"
  29. AU="Hernández-Wolters, Benjamin"
  30. AU="Chobanova, Veronika"
  31. AU="Otten, Gisela"
  32. AU="Elhence, Anshuman"
  33. AU="Tinneberg, H-R"
  34. AU="Puro, Neeraj"
  35. AU=Yang Chi-Fu Jeffrey
  36. AU="Oliveira, Giuliana S"
  37. AU="Maria Cecilia Jocson"
  38. AU="Tollman, Stephen"
  39. AU="Cherry, Katie E."
  40. AU="Nazet, Ute"
  41. AU="Kranzer, K"
  42. AU="Avelino, Samuel"
  43. AU="Sun, Xiang-Dong"
  44. AU="Vogl, Thomas J."
  45. AU="Johnson, C R"
  46. AU="Gil-Pérez, Pablo"
  47. AU="Donno, Federica"
  48. AU="Vom Saal, Frederick S."
  49. AU="Gazzana, S"
  50. AU="Viswanadha, Vijaya P"
  51. AU="Anastasi, G A"
  52. AU="Romerosa, Antonio"
  53. AU=Gupta Gaorav P
  54. AU="Fernández-Susavila, Héctor"

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  1. Artikel ; Online: Direct evidence of the ability of Pseudomonas aeruginosa and E. coli SulA to dimerize.

    Rumyantseva, N A / Golofeeva, D M / Shabalina, A V / Vedyaykin, A D

    Archives of biochemistry and biophysics

    2023  Band 751, Seite(n) 109826

    Abstract: The SulA protein of Escherichia coli and related bacteria interacts directly with FtsZ, blocking cell division by disrupting Z-ring formation, yet the precise mechanism remains not fully understood. Previous demonstrations of Pseudomonas aeruginosa SulA' ... ...

    Abstract The SulA protein of Escherichia coli and related bacteria interacts directly with FtsZ, blocking cell division by disrupting Z-ring formation, yet the precise mechanism remains not fully understood. Previous demonstrations of Pseudomonas aeruginosa SulA's dimerization capability were confined to X-ray crystallography and lacked confirmation under in vivo conditions. Additionally, uncertainty persisted regarding the dimerization potential of E. coli's SulA protein. This paper employs a bacterial two-hybrid system to establish that both P. aeruginosa and E. coli SulA proteins indeed possess the capacity for dimerization.
    Mesh-Begriff(e) Escherichia coli/metabolism ; Pseudomonas aeruginosa ; Bacterial Proteins/chemistry ; Dimerization ; Escherichia coli Proteins/metabolism ; Cell Division
    Chemische Substanzen Bacterial Proteins ; Escherichia coli Proteins
    Sprache Englisch
    Erscheinungsdatum 2023-11-22
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 523-x
    ISSN 1096-0384 ; 0003-9861
    ISSN (online) 1096-0384
    ISSN 0003-9861
    DOI 10.1016/j.abb.2023.109826
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: SulA is able to block cell division in Escherichia coli by a mechanism different from sequestration.

    Vedyaykin, Alexey / Rumyantseva, Natalia / Khodorkovskii, Mikhail / Vishnyakov, Innokentii

    Biochemical and biophysical research communications

    2020  Band 525, Heft 4, Seite(n) 948–953

    Abstract: The SOS response is considered to be an extremely important feature of bacterial cells. It helps them to survive bad times, including helping to develop resistance to antibiotics. The SOS response blocks the cell division. For Escherichia coli it is well ...

    Abstract The SOS response is considered to be an extremely important feature of bacterial cells. It helps them to survive bad times, including helping to develop resistance to antibiotics. The SOS response blocks the cell division. For Escherichia coli it is well known that the SulA protein directly interacts with FtsZ - a key division protein. Now it is believed that fission blocking is based on FtsZ sequestration by the SulA protein, which leads to decrease in effective concentration of FtsZ in the cell below a critical value, which in vitro leads to dismantling of FtsZ polymers. In this work, we demonstrate that in order to block the division of E. coli, it is sufficient to have a relatively small amount of SulA in the cell. Moreover, the analysis of structures formed by FtsZ in E. coli cells under the conditions of SulA protein expression or the SOS response showed that there is no complete disassembly of FtsZ polymers, although Z-rings indeed are not formed. The results of the work indicate that the well-known sequestration mechanism is not comprehensive to explain blocking of the division process by SulA in vivo.
    Mesh-Begriff(e) Bacterial Proteins/metabolism ; Cell Division/drug effects ; Cytoskeletal Proteins/metabolism ; Escherichia coli/cytology ; Escherichia coli/drug effects ; Escherichia coli Proteins/genetics ; Escherichia coli Proteins/metabolism ; Escherichia coli Proteins/pharmacology ; Recombinant Fusion Proteins/genetics ; Recombinant Fusion Proteins/metabolism ; SOS Response, Genetics/physiology ; Spectrometry, Fluorescence
    Chemische Substanzen Bacterial Proteins ; Cytoskeletal Proteins ; Escherichia coli Proteins ; FtsZ protein, Bacteria ; Recombinant Fusion Proteins ; sulA protein, E coli
    Sprache Englisch
    Erscheinungsdatum 2020-03-12
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 205723-2
    ISSN 1090-2104 ; 0006-291X ; 0006-291X
    ISSN (online) 1090-2104 ; 0006-291X
    ISSN 0006-291X
    DOI 10.1016/j.bbrc.2020.03.012
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel: Arabinogalactan proteins: involvement in plant growth and morphogenesis.

    Rumyantseva, N I

    Biochemistry. Biokhimiia

    2005  Band 70, Heft 10, Seite(n) 1073–1085

    Abstract: Arabinogalactan proteins (AGPs) are highly glycosylated hydroxyproline-containing variously located proteoglycans dynamically regulated in the course of plant ontogenesis. Special functions of AGPs are still unclear, but their involvement in vegetative ... ...

    Abstract Arabinogalactan proteins (AGPs) are highly glycosylated hydroxyproline-containing variously located proteoglycans dynamically regulated in the course of plant ontogenesis. Special functions of AGPs are still unclear, but their involvement in vegetative growth and reproduction of plants is well established. This review considers data on the structure, biosynthesis, and metabolism of AGPs. Special attention is given to involvement of AGPs in growth and morphogenesis, and possible mechanisms of their regulatory action are considered. AGPs are also compared with animal proteoglycans.
    Mesh-Begriff(e) Animals ; Humans ; Morphogenesis ; Mucoproteins/chemistry ; Mucoproteins/physiology ; Plant Cells ; Plant Development ; Plant Physiological Phenomena ; Plant Proteins/chemistry ; Plant Proteins/physiology ; Proteoglycans/chemistry ; Proteoglycans/physiology ; Signal Transduction ; Structure-Activity Relationship
    Chemische Substanzen Mucoproteins ; Plant Proteins ; Proteoglycans ; arabinogalactan proteins
    Sprache Englisch
    Erscheinungsdatum 2005-10-31
    Erscheinungsland United States
    Dokumenttyp Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1109-5
    ISSN 1608-3040 ; 0006-2979 ; 0320-9717
    ISSN (online) 1608-3040
    ISSN 0006-2979 ; 0320-9717
    DOI 10.1007/s10541-005-0228-7
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Buch ; Online: Application of the Duperier method to the analysis of the cosmic muon flux dependence on the meteorological parameters, based on the DANSS detector data

    Alekseev, I. / Belov, V. / Danilov, M. / Filosofov, D. / Fomina, M. / Kazartsev, S. / Kobyakin, A. / Kuznetsov, A. / Machikhiliyan, I. / Medvedev, D. / Nesterov, V. / Ponomarev, D. / Rozova, I. / Rumyantseva, N. / Rusinov, V. / Samigullin, E. / Shevchik, Ye. / Shirchenko, M. / Shitov, Yu. /
    Skrobova, N. / Svirida, D. / Tarkovsky, E. / Yakovleva, A. / Yakushev, E. / Zhitnikov, I. / Zinatulina, D.

    2023  

    Abstract: The detector DANSS is located under n industrial nuclear reactor at Kalininskaya Nuclear Power Plant. This location provides ~ 50 m.w.e. reduction of the cosmic muon flux in the vertical direction, which places the experiment in an intermediate position ... ...

    Abstract The detector DANSS is located under n industrial nuclear reactor at Kalininskaya Nuclear Power Plant. This location provides ~ 50 m.w.e. reduction of the cosmic muon flux in the vertical direction, which places the experiment in an intermediate position between ground and underground experiments in terms of shielding from the cosmic rays. The detector DANSS is located under an industrial nuclear reactor at Kalininskaya Nuclear Power Plant. This location provides ~50 m.w.e. reduction of the cosmic muon flux in the vertical direction, which places the experiment in an intermediate position between ground and underground experiments in terms of shielding from the cosmic rays. The detector's sensitive area consists of 2500 plastic scintillator counters, each 100x4x1 cm$^3$ in size, making in total a 1 m$^3$ volume, which is surrounded by a muon veto system and multiple layers of passive shielding. The main goal of the DANSS experiment is to study the antineutrino spectra at different distances from the source. For this purpose the detector is placed on a lifting platform, and the data is collected at three positions: 10.9 m, 11.9 m and 12.9 m from the center of the reactor core. The detector is capable of reconstructing muon tracks passing though the sensitive volume. In this work the barometric, height and temperature correlation coefficients are calculated in three areas of the zenith angle $\theta$ using the Duperier approach. These results are based on the muon data collected during four years.

    Comment: 7 pages, 3 figures, submitted to JETP letters (in Russian)
    Schlagwörter Physics - Instrumentation and Detectors ; High Energy Physics - Experiment
    Thema/Rubrik (Code) 530 ; 660
    Sprache Russisch
    Erscheinungsdatum 2023-07-10
    Erscheinungsland us
    Dokumenttyp Buch ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  5. Artikel: Effect of methyl jasmonate on growth characteristics and accumulation of phenolic compounds in suspension culture of tartary buckwheat

    Gumerova, E. A / Akulov, A. N / Rumyantseva, N. I

    Russian journal of plant physiology. 2015 Mar., v. 62, no. 2

    2015  

    Abstract: The effect of methyl jasmonate (MeJA) was studied at concentrations of 0.01, 0.1, 1, and 10 μM on the following physiological and biochemical characteristics of the suspension culture of tartary buckwheat (Fagopyrum tataricum (L.) Gaertn.): growth, ... ...

    Abstract The effect of methyl jasmonate (MeJA) was studied at concentrations of 0.01, 0.1, 1, and 10 μM on the following physiological and biochemical characteristics of the suspension culture of tartary buckwheat (Fagopyrum tataricum (L.) Gaertn.): growth, morphogenesis, the content of phenolic compounds (PC), and antioxidant activity (AOA). Qualitative and quantitative HPLC analysis of PC revealed that the dark-grown suspension culture of tartary buckwheat synthesizes rutin, quercitrin, epicatechin, ferulic and p-coumaric acids, with rutin being the most abundant component. It was shown that MeJA had no inhibitory effect on growth of suspension culture and stimulated the formation of PC, especially in media supplemented with 1 and 10 μM MeJA. At increasing concentrations of MeJA, the accumulation of PC was accompanied by the decline in AOA, which was probably due to the development of oxidative stress in the suspension culture. MeJA at a concentration of 10 μM stimulated slightly the growth of biomass; however, after the passage in the medium with 10 μM MeJA, the suspension culture almost lost its ability to form embryoids on the hormone-free medium. Cultivation of cells in the medium supplemented with 10 μM MeJA not only elevated the total content of PC but also modified their qualitative composition and the content of individual PC. The epicatechin content was higher than in the control culture throughout the whole passage; the increase in the content of p-coumaric acid and rutin was noted between the 4th and 8th days, and quercitrin content increased on the 8–14th day. Synthesis of these compounds was activated not by the end of the passage, as it occurred in the control culture, but at earlier stages of culture growth. The intracellular level of ferulic acid increased sharply on the 4th day of cultivation, while control cultures contained only trace quantities of this substance. It was found that MeJA activated biosynthesis of individual PC to different extents: the accumulation of epicatechin, p-coumaric and ferulic acids was more significant than that of rutin and quercitrin. In addition to the peaks of identified PC, MeJA stimulated the appearance of new compounds that were absent or weakly evident in the control culture.
    Schlagwörter Fagopyrum tataricum ; antioxidant activity ; biomass ; biosynthesis ; buckwheat ; epicatechin ; ferulic acid ; high performance liquid chromatography ; methyl jasmonate ; morphogenesis ; oxidative stress ; p-coumaric acid ; quercitrin ; rutin
    Sprache Englisch
    Erscheinungsverlauf 2015-03
    Umfang p. 195-203.
    Erscheinungsort Springer-Verlag
    Dokumenttyp Artikel
    ZDB-ID 1166808-8
    ISSN 1608-3407 ; 1070-3292 ; 1021-4437
    ISSN (online) 1608-3407
    ISSN 1070-3292 ; 1021-4437
    DOI 10.1134/S1021443715020077
    Datenquelle NAL Katalog (AGRICOLA)

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  6. Buch ; Online: Production and validation of scintillating structural components from low-background Poly(ethylene naphthalate)

    Efremenko, Y. / Febbraro, M. / Fischer, F. / Corominas, M. Guitart / Gusev, K. / Hackett, B. / Hayward, C. / Hodák, R. / Krause, P. / Majorovits, B. / Manzanillas, L. / Muenstermann, D. / Pohl, M. / Rouhana, R. / Radford, D. / Rukhadze, E. / Rumyantseva, N. / Schilling, I. / Schoenert, S. /
    Schulz, O. / Schwarz, M. / Štekl, I. / Stommel, M. / Weingarten, J.

    2021  

    Abstract: Poly Ethylene Naphthalate (PEN) is an industrial polymer plastic which is investigated as a low background, transparent, scintillating and wavelength shifting structural material. PEN scintillates in the blue region and has excellent mechanical ... ...

    Abstract Poly Ethylene Naphthalate (PEN) is an industrial polymer plastic which is investigated as a low background, transparent, scintillating and wavelength shifting structural material. PEN scintillates in the blue region and has excellent mechanical properties both at room and cryogenic temperatures. Thus, it is an ideal candidate for active structural components in experiments for the search of rare events like neutrinoless double-beta decay or dark matter recoils. Such optically active structures improve the identification and rejection efficiency of background events, like this improving the sensitivity of experiments. This paper reports on the production of radiopure and transparent PEN plates These structures can be used to mount germanium detectors operating in cryogenic liquids (LAr, LN). Thus, as first application PEN holders will be used to mount the Ge detectors in the LEGEND-200 experiment. The whole process from cleaning the raw material to testing the PEN active components under final operational conditions is reported.
    Schlagwörter Physics - Instrumentation and Detectors ; High Energy Physics - Experiment
    Thema/Rubrik (Code) 660
    Erscheinungsdatum 2021-10-25
    Erscheinungsland us
    Dokumenttyp Buch ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  7. Artikel ; Online: Nuclear genome stability in long-term cultivated callus lines of Fagopyrum tataricum (L.) Gaertn.

    Betekhtin, Alexander / Rojek, Magdalena / Jaskowiak, Joanna / Milewska-Hendel, Anna / Kwasniewska, Jolanta / Kostyukova, Yulia / Kurczynska, Ewa / Rumyantseva, Natalya / Hasterok, Robert

    PloS one

    2017  Band 12, Heft 3, Seite(n) e0173537

    Abstract: Long-term cultivated Fagopyrum tataricum (L.) Gaertn. (Tartary buckwheat) morphogenic and non-morphogenic callus lines are interesting systems for gaining a better understanding of the mechanisms that are responsible for the genetic stability and ... ...

    Abstract Long-term cultivated Fagopyrum tataricum (L.) Gaertn. (Tartary buckwheat) morphogenic and non-morphogenic callus lines are interesting systems for gaining a better understanding of the mechanisms that are responsible for the genetic stability and instability of a plant tissue culture. In this work, we used histological sections and transmission electron microscopy to identify and describe the morphology of the nuclei of all of the analysed callus lines. We demonstrated that the embryogenic callus cells had prominent round nuclei that did not contain heterochromatin clumps in contrast to the non-morphogenic callus lines, in which we found nuclei that had multiple lobes. Flow cytometry analysis revealed significant differences in the relative DNA content between the analysed calli. All of the analysed morphogenic callus lines had peaks from 2C to 8C as compared to the non-morphogenic callus lines, whose peaks did not reflect any regular DNA content and exceeded 8C and 16C for the line 6p1 and 16C and 32C for the callus line 10p2A. The results showed that non-morphogenic calli are of an aneuploid nature. The TUNEL test enabled us to visualise the nuclei that had DNA fragmentation in both the morphogenic and non-morphogenic lines. We revealed significantly higher frequencies of positively labelled nuclei in the non-morphogenic lines than in the morphogenic lines. In the case of the morphogenic lines, the highest observed frequency of TUNEL-positive nuclei was 7.7% for lines 2-3. In the non-morphogenic calli, the highest level of DNA damage (68.5%) was revealed in line 6p1. These results clearly indicate greater genome stability in the morphogenic lines.
    Mesh-Begriff(e) Cell Culture Techniques ; Cell Nucleus/genetics ; Fagopyrum/genetics ; Fagopyrum/growth & development ; Genomic Instability ; Morphogenesis/genetics ; Plant Proteins/genetics
    Chemische Substanzen Plant Proteins
    Sprache Englisch
    Erscheinungsdatum 2017-03-09
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 2267670-3
    ISSN 1932-6203 ; 1932-6203
    ISSN (online) 1932-6203
    ISSN 1932-6203
    DOI 10.1371/journal.pone.0173537
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  8. Artikel ; Online: Comparison of redox state of cells of tatar buckwheat morphogenic calluses and non-morphogenic calluses obtained from them.

    Kamalova, G V / Akulov, A N / Rumyantseva, N I

    Biochemistry. Biokhimiia

    2009  Band 74, Heft 6, Seite(n) 686–694

    Abstract: Intracellular content of hydrogen peroxide and of the product of lipid peroxidation malonic dialdehyde as well as activity of antioxidant enzymes catalase, ascorbate peroxidase, and superoxide dismutase were studied in cells of morphogenic and derived ... ...

    Abstract Intracellular content of hydrogen peroxide and of the product of lipid peroxidation malonic dialdehyde as well as activity of antioxidant enzymes catalase, ascorbate peroxidase, and superoxide dismutase were studied in cells of morphogenic and derived from them non-morphogenic calluses of tatar buckwheat Fagopyrum tataricum L. Non-morphogenic calluses were characterized by significantly higher content of hydrogen peroxide and malonic dialdehyde, low catalase activity, and high activity of superoxide dismutase compared to morphogenic cultures. The results may indicate that cells of non-morphogenic calluses are in the state of continuous oxidative stress. Nevertheless, proliferative activity of non-morphogenic cultures and the biomass increase significantly exceeded these parameters in morphogenic calluses. An analogy is drawn between animal cancer cells and non-morphogenic plant calluses.
    Mesh-Begriff(e) Ascorbate Peroxidases ; Biomass ; Catalase/metabolism ; Cell Proliferation ; Cells, Cultured ; Chromosomes, Plant ; Fagopyrum/embryology ; Fagopyrum/metabolism ; Hydrogen Peroxide/metabolism ; Lipid Peroxides/metabolism ; Malondialdehyde/metabolism ; Mitotic Index ; Morphogenesis/physiology ; Oxidation-Reduction ; Oxidative Stress/physiology ; Peroxidases/metabolism ; Plant Proteins/metabolism ; Reactive Oxygen Species/metabolism ; Superoxide Dismutase/metabolism
    Chemische Substanzen Lipid Peroxides ; Plant Proteins ; Reactive Oxygen Species ; Malondialdehyde (4Y8F71G49Q) ; Hydrogen Peroxide (BBX060AN9V) ; Peroxidases (EC 1.11.1.-) ; Ascorbate Peroxidases (EC 1.11.1.11) ; Catalase (EC 1.11.1.6) ; Superoxide Dismutase (EC 1.15.1.1)
    Sprache Englisch
    Erscheinungsdatum 2009-09-01
    Erscheinungsland United States
    Dokumenttyp Comparative Study ; Journal Article
    ZDB-ID 1109-5
    ISSN 1608-3040 ; 0006-2979 ; 0320-9717
    ISSN (online) 1608-3040
    ISSN 0006-2979 ; 0320-9717
    DOI 10.1134/s0006297909060145
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  9. Artikel: Stimulation of root development on buckwheat thin cell-layer explants by pectic fragments from pea stem cell walls.

    Lozovaya, V V / Zabotina, O A / Rumyantseva, N I / Malihov, R G / Zihareva, M V

    Plant cell reports

    2013  Band 12, Heft 9, Seite(n) 530–533

    Abstract: Buckwheat (Fagopyrum esculentum Moench.) thin cell-layers (TCLs) cultured individually in a liquid medium were used to test the root-inducing activity of pectic polysaccharides with a degree of polymerization (DP) of 20-25, isolated from pea (Pisum ... ...

    Abstract Buckwheat (Fagopyrum esculentum Moench.) thin cell-layers (TCLs) cultured individually in a liquid medium were used to test the root-inducing activity of pectic polysaccharides with a degree of polymerization (DP) of 20-25, isolated from pea (Pisum sativum L.) stem cell walls. These pectic fragments induced more rapid root formation on the explants in comparison with untreated controls. This pectic fragment treatment also promoted root growth as measured by both fresh and dry weights and about doubled the number of roots formed. This buckwheat TCL system is proposed as a new bioassay for oligosaccharins due to its sensitivity, reproducibility and ease of preparation.
    Sprache Englisch
    Erscheinungsdatum 2013-11-07
    Erscheinungsland Germany
    Dokumenttyp Journal Article
    ZDB-ID 8397-5
    ISSN 1432-203X ; 0721-7714 ; 0721-085X
    ISSN (online) 1432-203X
    ISSN 0721-7714 ; 0721-085X
    DOI 10.1007/BF00236102
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  10. Artikel ; Online: Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding.

    Polityko, A / Starke, H / Rumyantseva, N / Claussen, U / Liehr, T / Raskin, S

    Cytogenetic and genome research

    2005  Band 111, Heft 2, Seite(n) 171–174

    Abstract: In this report, we describe three unrelated patients with similar symptoms such as mental retardation, growth delay and multiple phenotypic abnormalities. GTG-banding analysis revealed karyotypes with add(1p) in two cases and an add(1q) in the third. ... ...

    Abstract In this report, we describe three unrelated patients with similar symptoms such as mental retardation, growth delay and multiple phenotypic abnormalities. GTG-banding analysis revealed karyotypes with add(1p) in two cases and an add(1q) in the third. Fluorescence in situ hybridization (FISH) analysis using high resolution multicolor banding (MCB) characterized the aberrations of the abnormal chromosomes 1 as a (sub)terminal duplication and inverted duplications, respectively. Although three different chromosomal regions i.e. 1p36.1, 1p36.2-->1p31.3 and 1q41-->1q44 were involved, all three patients had similar patterns of dysmorphic findings. These cases demonstrate the power of MCB in the characterization of small interstitial chromosomal aberrations and resulted in the characterization of three previously unreported congenital chromosome 1 rearrangements.
    Mesh-Begriff(e) Abnormalities, Multiple/genetics ; Chromosome Banding/methods ; Chromosome Mapping ; Chromosomes, Human, Pair 1 ; Female ; Gene Duplication ; Gene Rearrangement/genetics ; Growth Disorders/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability/genetics ; Male ; Pregnancy ; Trisomy
    Sprache Englisch
    Erscheinungsdatum 2005
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2087824-2
    ISSN 1424-859X ; 1424-8581
    ISSN (online) 1424-859X
    ISSN 1424-8581
    DOI 10.1159/000086388
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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