scholarly journals The 22q11 low copy repeats are characterized by unprecedented size and structural variability

2019 ◽  
Vol 29 (9) ◽  
pp. 1389-1401 ◽  
Author(s):  
Wolfram Demaerel ◽  
Yulia Mostovoy ◽  
Feyza Yilmaz ◽  
Lisanne Vervoort ◽  
Steven Pastor ◽  
...  
Author(s):  
Norbani Abdullah ◽  
Lailatun N. Ozair ◽  
Habibah Samsudin ◽  
Graham J. Tizzard ◽  
Simon J. Coles ◽  
...  

2014 ◽  
Vol 20 (31) ◽  
pp. 9494-9499 ◽  
Author(s):  
Célia Fonseca Guerra ◽  
Pablo J. Sanz Miguel ◽  
Andrea Cebollada ◽  
F. Matthias Bickelhaupt ◽  
Bernhard Lippert

2007 ◽  
Vol 9 (15) ◽  
pp. 1-16 ◽  
Author(s):  
Lucy R. Osborne ◽  
Carolyn B. Mervis

AbstractThe Williams–Beuren syndrome (WBS) locus on human chromosome 7q11.23 is flanked by complex chromosome-specific low-copy repeats that mediate recurrent genomic rearrangements of the region. Common genomic rearrangements arise through unequal meiotic recombination and result in complex but distinct behavioural and cognitive phenotypes. Deletion of 7q11.23 results in WBS, which is characterised by mild to moderate intellectual disability or learning difficulties, with relative cognitive strengths in verbal short-term memory and in language and extreme weakness in visuospatial construction, as well as anxiety, attention-deficit hyperactivity disorder and overfriendliness. By contrast, duplication results in severely delayed speech and expressive language, with relative strength in visuospatial construction. Although deletion and duplication of the WBS region have very different effects, both cause forms of language impairment and suggest that dosage-sensitive genes within the region are important for the proper development of human speech and language. The spectrum and frequency of genomic rearrangements at 7q11.23 presents an exceptional opportunity to identify gene(s) directly involved in human speech and language development.


2020 ◽  
Vol 235 (8-9) ◽  
pp. 353-363
Author(s):  
Alexander E. Sedykh ◽  
Robin Bissert ◽  
Dirk G. Kurth ◽  
Klaus Müller-Buschbaum

AbstractThree salts of the common composition [EuCl2(X-tpy)2][EuCl4(X-tpy)]·nMeCN were obtained from EuCl3·6H2O and the respective organic ligands (X-tpy = 4′-phenyl-2,2′:6′,2″-terpyridine ptpy, 4′-(pyridin-4-yl)-2,2′:6′,2″-terpyridine 4-pytpy, and 4′-(pyridin-3-yl)-2,2′:6′,2″-terpyridine 3-pytpy). These ionic complexes are examples of salts, in which both cation and anion contain Eu3+ with the same organic ligands and chlorine atoms coordinated. As side reaction, acetonitrile transforms into acetamide resulting in the crystallization of the complex [EuCl3(ptpy)(acetamide)] (4). Salts [EuCl2(ptpy)2][EuCl4(ptpy)]·2.34MeCN (1), [EuCl2(4-pytpy)2][EuCl4(4-pytpy)]·0.11MeCN (2), and [EuCl2(3-pytpy)2][EuCl4(3-pytpy)]·MeCN (3) crystallize in different structures (varying in space group and crystal packing) due to variation of the rear atom of the ligand to a coordinative site. Additionally, we show and compare structural variability through the dimeric complexes [Eu2Cl6(ptpy)2(N,N′-spacer)]·N,N′-spacer (5, 6, 7) obtained from [EuCl3(ptpy)(py)] by exchanging the end-on ligand pyridine with several bipyridines (4,4′-bipyridine bipy, 1,2-bis(4-pyridyl)ethane bpa, and 1,2-bis(2-pyridyl)ethylene bpe). In addition, photophysical (photoluminescence) and thermal properties are presented.


2012 ◽  
Vol 52 (7) ◽  
pp. 3565-3572 ◽  
Author(s):  
Christopher L. Webster ◽  
Jefferson E. Bates ◽  
Ming Fang ◽  
Joseph W. Ziller ◽  
Filipp Furche ◽  
...  

2018 ◽  
Vol 30 (2) ◽  
pp. 289-304 ◽  
Author(s):  
Inna S. Lykova ◽  
Nikita V. Chukanov ◽  
Igor V. Pekov ◽  
Vasiliy O. Yapaskurt ◽  
Gerald Giester

1999 ◽  
Vol 154 (1) ◽  
pp. 291-300 ◽  
Author(s):  
Marco Paolo Martegani ◽  
Fabrizio Del Prete ◽  
Alessandra Gasbarri ◽  
Pier Giorgio Natali ◽  
Armando Bartolazzi

1997 ◽  
Vol 119 (26) ◽  
pp. 6072-6094 ◽  
Author(s):  
Andrew G. Myers ◽  
Norma J. Tom ◽  
Mark E. Fraley ◽  
Scott B. Cohen ◽  
David J. Madar

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