196,383 research outputs found
Fragment kirjast Chr. M. J. Frähn'ile
No full textPotocki, Severin, 1762-1829, vene kirjanik, ajaloolane ja poliitik, krahvFrähn, Christian Martin Joachim, 1782-1851, orientalist ja numismaatik, Kaasani ülikooli professor, Peterburi TA liigeFragment kirjast aadressig
Arnold‐Chiari type 1 malformation in Potocki–Lupski syndrome
No full textPotocki–Lupski syndrome (PTLS) is a genetic disorder that results from an interstitial duplication within chromosome 17p11.2. Children with PTLS typically present with infantile hypotonia, failure to thrive, and global developmental delay with or without major organ system involvement. Systematic clinical studies regarding growth, cardiovascular disease, and neurocognitive profiles have been published; however, systematic evaluation of central nervous system structure by magnetic resonance imaging (MRI) of the brain has not been reported. Herein, we describe three patients with PTLS who were found—in the course of routine clinical care—to have a type 1 Arnold‐Chiari malformation (CM‐1). This finding raises the question of whether the incidence of CM‐1 is increased in PTLS, and hence, if an MRI of the brain should be considered in the evaluation of all patients with this chromosomal duplication syndrome
MIECZYSŁAW LUDWIK POTOCKI — MONUMENTS CONSERVATOR IN GALICIA AND HISTORIAN OF ZAMOŚĆ
No full textMieczysław Ludwik Potodci of Lubicz crest came from Bracław
voivodship. Born in 1810 in Lwów he studied in Warsaw University
and later fought in the November Uprising. For many years he ran
Kociubińczyki, his Galician estate near Husiatyn. It was only by
accident that he became member — correspondent of the Cracow
Scientific Society. After handing over a statute of Światowid
(a pagan deity) found in the waters of the Zbruch, M. L. Potocki
started collecting coins and archaeological objects for his private
„Museum of Antiques” . As a member of the Cracow Scientific
Society he travelled a lot for scientific purposes in Lubelska Gubernyia
and in Galicia.
In 1864 M. L. Potocki was appoited monuments conservator in
East Galicia and published several reports on conservation activities.
He spent his last years in Lwów where he worked in the
National Archaeological Museum. A year before his death M. L. Potocki
was elected chairman of the section of archaeology and
antropology. During his stay in Lubelska Gubemyia he decided
to write a comprehensive monography (in two volumes) of the
town and fortress of Zamość. The work was written finally in
1858—1862 and he wrote it together with Priest-Mikołaj Kulaszynski.
Józef Friedlein, a Cracow book dealer, bought the manuscript
from the author and wanted to have it printed but never
fulfilled the task due to the shortage of funds. In 1926 Henryk
Rosiński, a bibliophile from Zamość, bought the manuscript from
Firedlein’s successor, Józef Munnich. After World War II and the
aeath of Henryk Rosiński in Auschwitz, his sister passed on his
collections including the manuscript to the Museum in Zamość,
where it is still now
Specific metal ion binding sites in unstructured regions of proteins
No full textIn this review, we summarize the most recent observations on some very effective binding sites (e.g. ATCUN motif, poly-His, poly-Cys, or Met-containing sequences) for biologically relevant metals in proteins and peptides. In addition, the influence of the specific sequence on the binding stability, besides the donor atoms, is described (e.g. Pro residues as in PrP or poly-Gln sequences).It is well known that some disorders are connected with proteins which need metal ions for biological activity. Often metal ions coordinate to binding sites located in loops or unstructured regions of those proteins. These rather recent discoveries make metal ion binding to proteins slightly more enigmatic than in the case of an insertion of metal into an "organized" site. Although in the latter cases, we still may need chaperons helping to select the proper metal ion, some selectivity is provided by the pre-organized structure of the donor site itself in the protein. The metal ion binding usually exerts a distinct impact on the binding pocket structure due to the secondary or tertiary structure donors from the residues being often very far away in the peptide sequence. Recently, several metallo-proteins were discovered whose structures are rather disordered (e.g. α-synuclein, prions or β-amyloid peptide involved in Alzheimer disease). Also some specific metal chaperons, consisting of long poly-His sequences being very effective binders of metals, do not show any specific secondary structure. Examples of these might be bacterial nickel accessory proteins, involved in the complicated pathway of metal uptake, delivery and regulation in microorganisms. Recently, several observations were reported on the homeostasis of nickel in Helicobacter pylori, a Gram-negative bacterium that colonizes the gastric mucosa in humans, and is the causative agent of acute and chronic gastritis, peptic ulcer disease, gastric carcinoma, and gastric lymphoma. The homeostasis of nickel is crucial for the survival of this bacterium in the extremely acidic environment of the stomach; the metal is delivered to urease and hydrogenase by a set of accessory proteins. Zinc often plays a structural or regulatory role in those nickel chaperones. It can also be one of the metal ion which interferes with the homeostasis of Ni2+, since the affinity of the two metals toward His- and Cys-rich sequences can sometimes be comparable. © 2013
“Intertextual” Potocki
No full textThe life of Enlightenment celebrities from the spheres of aristocracy, politics and science - which were swarming with original, eccentric and brilliant figures - almost provokes to be included in the framework of the fictional story. Also many literary works from this era, amazingly modern in form and content and well written, still tempts to literary „dialogue” with them. Contemporary authors readily use these „goods” searching
new themes and artistic solutions. For these reasons Jan Potocki has earned the great interest of the creators. His astonishingly original and eccentric life has inspired both Polish (e.g. M. Choromański, J. Lechoń, T. Jurasz) and foreign authors (e.g. Rüdiger Kremer). His works have aroused equally strong interest, especially The Manuscript Found in Saragossa, a masterpiece of world literature, inspiring many important and talented
writers, Polish and foreign ones (e.g. M. Gretkowska, K. Rudowski, L. Rosendorfer, J. Fowles). Undoubtedly, Potocki’s work and biography can provide a lot of creative satisfaction and they are a mine of literary ideas, starting from biographical facts, by borrowing motifs and ending with stylization „games”
Copper forms a PPII helix-like structure with the catalytic domains of bacterial zinc metalloproteases
No full textThe rapid spread of antibiotic-resistant bacteria continuously raises concerns about the future ineffectiveness of current antimicrobial treatments against infectious diseases. To address this problem, new therapeutic strategies and antimicrobial drugs with unique modes of action are urgently needed. Inhibition of metalloproteases, bacterial virulence factors, is a promising target for the development of antibacterial treatments. In this study, the interaction among Zn(II), Cu(II), and the metal-binding domains of two metalloproteases, AprA (Pseudomonas aureginosa) and CpaA (Acinetobacter baumanii), was investigated. The objective was to determine the coordination sphere of Zn(II) with a peptide model of two zinc-dependent metalloproteases. Additionally, the study explored the formation of Cu(II) complexes with the domains, as Cu(II) has been shown to inhibit metalloproteases. The third aim was to understand the role of nonbinding amino acids in stabilizing the metal complexes formed by these proteases. This work identified specific coordination patterns (HExxHxxxxxH) for both Zn(II) and Cu(II) complexes, with AprA and CpaA exhibiting a higher affinity for Cu(II) compared to Zn(II). The study also found that the CpaA domain has greater stability for both Zn(II) and Cu(II) complexes compared to AprA. The nonbinding amino acids of CpaA surrounding the metal ion contribute to the increased thermodynamic stability of the metal-peptide complex through various intramolecular interactions. These interactions can also influence the secondary structures of the peptides. The presence of certain amino acids, such as tyrosine, arginine, and glutamic acid, and their interactions contribute to the stability and, only in the case of Cu(II) complexes, the formation of a rare protein structure called a left-handed polyproline II helix (PPII), which is known to play a role in the stability and function of various proteins. These findings provide valuable insights into the coordination chemistry of bacterial metalloproteases and expand our understanding of potential mechanisms for inhibiting these enzymes
Catalogue de beaux tableaux anciens..., beau tableau par M. Hobbéma, le tout composant la collection de M. le comte Potocki... / [expert] Georges Petit
No full text[Vente. Art. 1885-05-08. Paris][Collection. Art. Potocki (comte). 1885]Référence bibliographique : Lugt, 44906Appartient à l’ensemble documentaire : VenteEST2Avec mode text
Dr. Duane M. Jackson, Morehouse College, July 2011
No full textThis video is a conversation with Dr. Duane M. Jackson. Dr. Jackson talks about his paper, "Recall and the Serial Position Effect: The Role of Primacy and Recency on Accounting Students' Performance." Jackie Daniel, AUC Woodruff Library, is the interviewer
Metal binding ability of cysteine-rich peptide domain of ZIP13 Zn 2+ ions transporter
No full textThe coordination modes and thermodynamic stabilities of the complexes of the cysteine-rich N-terminal domain fragment of the ZIP13 zinc transporter (MPGCPCPGCG-NH2) with Zn2+, Cd2+, Bi3+, and Ni2+ have been studied by potentiometric, mass spectrometric, NMR, CD, and UV-vis spectroscopic methods. All of the studied metals had similar binding modes, with the three thiol sulfurs of cysteine residues involved in metal ion coordination. The stability of the complexes formed in solution changes in the series Bi3+ >> Cd2+ > Zn2+ > Ni2+, the strongest being for bismuth and the weakest for nickel. The N-terminal fragment of the human metalothionein-3 (MDPETCPCP-NH2) and unique histidine- and cysteine-rich domain of the C-terminus of Helicobacter pyroli HspA protein (Ac-ACCHDHKKH-NH2) have been chosen for the comparison studies. It confirmed indirectly which groups were the anchoring ones of ZIP 13 domain. Experimental data from all of the used techniques and comparisons allowed us to propose possible coordination modes for all of the studied ZIP13 complexes
Positionelle Klonierung der Krankheitsgene für Kallmann Syndrom und Potocki- Shaffer Syndrom
No full textContents
Dedication----------------------------------------------------------------------------------
vi
Figures---------------------------------------------------------------------------------------
vii 1\. Aim of the
thesis---------------------------------------------------------------------- 1
1.1 Kallmann
syndrome------------------------------------------------------------ 1 1.2
Potocki-Shaffer syndrome---------------------------------------------------- 1
2\. List of original
publications------------------------------------------------------- 2 2.1
Paper
I-----------------------------------------------------------------------------
3 2.2 Paper
II----------------------------------------------------------------------------
4 2.3 Paper
III---------------------------------------------------------------------------
5 2.4 Paper
IV---------------------------------------------------------------------------
6 3\. ASHG
Abstract-------------------------------------------------------------------------
7 4\.
Introduction-----------------------------------------------------------------------------
8 4.1 Balanced translocations: visible bridges between genotypes and
phenotypes----------------------------------------------------------------- 8
4.2 Structural chromosome rearrangements---------------------------------- 10
4.3 A historical perspective: balanced translocations and positional
cloning--------------------------------------------------------------- 13 4.4
Balanced translocations associated with abnormal phenotypes-- 16 4.5 Balanced
translocations in recessive disorders------------------------- 19 4.6
Positional
effect------------------------------------------------------------------ 19
4.7 Balanced translocation as a “double hit”----------------------------------
21 4.8 Balanced translocations with discordant phenotype------------------ 21
4.9 Balanced translocations involving the X chromosome--------------- 23 5\.
Kallmann
syndrome----------------------------------------------------------------- 26
5.1
Introduction----------------------------------------------------------------------
26 5.2
Genetics--------------------------------------------------------------------------
28 5.3
Subjects--------------------------------------------------------------------------
29 5.3.1 Positional cloning of t(7;8)(p12.3;p11.2)dn--------------------- 29
5.3.2 Candidate gene approach with CHD7--------------------------- 29 5.3.3
Positional cloning of t(10;12)(q26.12;q13.11)dn-------------- 30 5.4
Hypothesis-----------------------------------------------------------------------
30 5.4.1 Positional cloning of t(7;8)(p12.3;p11.2)dn--------------------- 30
5.4.2 Candidate gene approach with CHD7--------------------------- 31 5.4.3
Positional cloning of t(10;12)(q26.12;q13.11)dn-------------- 32 5.5 Results
and Discussion------------------------------------------------------- 32 5.5.1
Positional cloning of t(7;8)(p12.3;p11.2)dn--------------------- 32 5.5.2
Candidate gene approach with CHD7--------------------------- 36 5.5.3
Positional cloning of t(10;12)(q26.12;q13.11)dn-------------- 40 6\. Potocki-
Shaffer syndrome------------------------------------------------------- 45 6.1
Introduction and Genetics----------------------------------------------------
45 6.2
Subjects---------------------------------------------------------------------------
46 6.2.1 DGAP012 patient with t(11;19)(p11.2;p13.2)dn--------------- 46 6.2.2
MCN1762 patient with t(1;11)(p13;p11.2)dn------------------- 47 6.2.3
GM03316---------------------------------------------------------------- 48 6.3
Hypothesis------------------------------------------------------------------------
49 6.4
Results-----------------------------------------------------------------------------
49 6.4.1 PHF21A is disrupted in unrelated subjects with chromosomal
translocations, ID, and CFA------------------------ 49 6.4.2 PHF21A maps to
the critical PSS interval associated with ID and
CFA---------------------------------------------------------------- 51 6.4.3
Murine Phf21a is expressed in the CNS and cranial
bones-------------------------------------------------------------- 53 6.4.4
Suppression of zebrafish phf21a expression causes CFA and neuronal
apoptosis------------------------------------------ 54 6.4.5 Disruption of
PHF21A in the translocation subjects derepresses
SCN3A---------------------------------------------------- 55 6.5 Discussion
----------------------------------------------------------------------- 56 7\.
Outlook and Conclusion
---------------------------------------------------------- 61 8\.
Acknowledgements-----------------------------------------------------------------
62 9\.
Literature--------------------------------------------------------------------------------
63 10\.
Summary------------------------------------------------------------------------------
76 11\.
Zusammenfassung----------------------------------------------------------------
77We took advantage of the unique opportunity to locate genes of developmental
importance provided by apparently balanced chromosomal rearrangements
associated with phenotypic abnormalities. By positional cloning at or near the
breakpoints, we aimed to identify the crucial disease genes whose functions
were disrupted or dysregulated by chromosomal rearrangement. This thesis
describes the positional cloning of disease genes for Kallmann and Potocki-
Shaffer syndromes from the breakpoint mapping to the genomic, bioinformatics,
molecular and functional analyses, supporting the conclusions that FGFR1 and
WDR11 cause Kallmann syndrome and PHF21A causes intellectual disability (ID)
and craniofacial anomalies (CFA) in Potocki-Shaffer syndrome. Additionally, a
candidate gene approach identified CHD7 as a new Kallmann syndrome gene.
Specifically, we show that FGFR1 is truncated by a translocation breakpoint at
8p11.2 and that haploinsufficiency is the likely underlying mechanism of
Kallmann syndrome in this patient with 46,XY,t(7;8)(p12.3;p11.2)dn. By
defining the chromosomal breakpoint of t(10;12)(q26.12;q13.11)dn from a
subject with Kallmann syndrome and scanning genes in its vicinity in unrelated
hypogonadal subjects, we have identified WDR11 at 10q26.12 as another gene
involved in human puberty. We discovered that WDR11 interacts with EMX1, a
homeodomain transcription factor involved in the development of olfactory
neurons, and that missense mutations reduce or abolish this interaction. By
candidate gene approach, we show that CHD7 is mutated in patients with
Kallmann syndrome, which represents a milder allelic variant of CHARGE
syndrome. Finally, through the characterization of two independent subjects
with balanced translocations involving 11p11.2 and supportive comparative
deletion mapping of Potocki-Shaffer syndrome patients with different
phenotypes, we have discovered that the ID and CFA phenotypes of Potocki-
Shaffer syndrome are both caused by haploinsufficiency of a single gene,
PHF21A, at 11p11.2. The research presented in this thesis underscores the
instrumental role of constitutional balanced chromosomal translocations in the
identification of monogenic disease genes by breakpoint mapping.Die systematische Untersuchung von Patienten mit balancierten
Chromosomenveränderungen ist eine erfolgversprechende Strategie zur
Identifizierung neuer, bisher unbekannter Krankheitsgene. Die hier vorliegende
Arbeit beschreibt die Positionsklonierung von Genen für das Kallmann- und das
Potocki-Shaffer-Syndrom durch Kartierung der Bruchpunkte und anschliessende
genomische, bioinformatische, molekulare und funktionelle Analysen. Diese
Untersuchungen haben Mutationen in den Genen FGFR1 und WDR11 als molekulare
Ursachen des Kallmann-Syndroms wahrscheinlich gemacht und CHD7 als neues Gen
für das Kallmann-Syndrom identifiziert. Darüberhinaus konnten wir nachweisen,
dass Mutationen im PHF21A-Gen zur geistigen Behinderung mit kraniofazialen
Auffälligkeiten führen, die für das Potocki-Shaffer-Syndrom charakteristisch
sind. Bei einem Träger einer de novo-Translokation zwischen den Chromosomen 7
und 8 (46,XY,t(7;8)(p12.3;p11.2)) konnten wir nachweisen, dass das FGFR1-Gen
durch den Bruchpunkt im kurzen Arm von Chromosom 8 durchtrennt wird. Dies
spricht dafür, dass eine Form des Kallmann-Syndroms durch Haploinsuffizienz
von FGFR1 verursacht wird. Durch Untersuchung einer anderen, ebenfalls mit
Kallmann-Syndrom assoziierten de novo-Translokation mit Bruchpunkten in den
langen Armen der Chromosomen 10 und 12 (t(10;12)(q26.12;q13.11) und
anschliessende Suche nach Mutationen im Bereich 10q26.12 bei nicht verwandten
Patienten haben wir WDR11 als ein weiteres Gen für Kallmann-Syndrom
identifiziert. Wir konnten zeigen, dass das WDR11-Protein mit dem Homeobox-
Transkriptionsfaktor EMX1 interagiert. Missense- Mutationen im WDR11-Gen
können diese Interaktion schwächen oder sogar zu einem vollständigen Verlust
der Interaktion führen. EMX1 spielt eine wichtige Rolle in der Entwicklung von
olfaktorischen Neuronen. Durch gezielte Suche nach Mutationen in
aussichtsreichen Kandidatengenen gelang es uns ausserdem, Defekte des
CHD7-Gens als weitere Ursache des Kallmann-Syndroms ausfindig zu machen. Im
Rahmen dieser Doktorarbeit haben wir schliesslich auch die molekulare Ursache
des Potocki-Shaffer-Syndroms aufgeklärt. Durch Kartierung von
Translokationsbruchpunkten im kurzen Arm von Chromosom 11 (11p11.2) bei zwei
nicht verwandten Patienten konnten wir zeigen, dass dieses Syndrom durch
Inaktivierung des PHF21A-Gens verursacht wird, und dass die für dieses Syndrom
charakteristische geistige Behinderung mit kraniofazialen Auffälligkeiten
durch Haploinsuffizienz des PHF21A-Gens erklärt werden kann. Die im Rahmen
dieser Arbeit erzielten Ergebnisse sind ein weiterer Beleg für die Bedeutung
von krankheitsassoziierten balanzierten Translokationen als sichtbare Brücke
zwischen Genotyp und Phänotyp und als Schlüssel für die molekulare Aufklärung
monogener Krankheiten
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