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Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans
, Article American Journal of Human Genetics ; Volume 108, Issue 2 , 2021 , Pages 324-336 ; 00029297 (ISSN) ; Jiao, Y ; Khan, R ; Jiang, X ; Javed, A. R ; Ali, A ; Zhang, H ; Zhou, J ; Naeem, M ; Murtaza, G ; Li, Y ; Yang, G ; Zaman, Q ; Zubair, M ; Guan, H ; Zhang, X ; Ma, H ; Jiang, H ; Ali, H ; Dil, S ; Shah, W ; Ahmad, N ; Zhang, Y ; Shi, Q ; Sharif University of Technology
Cell Press
2021
Abstract
Human infertility is a multifactorial disease that affects 8%–12% of reproductive-aged couples worldwide. However, the genetic causes of human infertility are still poorly understood. Synaptonemal complex (SC) is a conserved tripartite structure that holds homologous chromosomes together and plays an indispensable role in the meiotic progression. Here, we identified three homozygous mutations in the SC coding gene C14orf39/SIX6OS1 in infertile individuals from different ethnic populations by whole-exome sequencing (WES). These mutations include a frameshift mutation (c.204_205del [p.His68Glnfs∗2]) from a consanguineous Pakistani family with two males suffering from non-obstructive...
Lofar: recent imaging results and future prospects
, Article Journal of Astrophysics and Astronomy ; Volume 32, Issue 4 , January , 2011 , Pages 589-598 ; 02506335 (ISSN) ; Bell, M. R ; Horneffer, A ; Offringa, A. R ; Pizzo, R ; van der Tol, S ; van Weeren, R. J ; van Zwieten, J. E ; Anderson, J. M ; Beck, R ; van Bemmel, I ; Bîrzan, L ; Bonafede, A ; Conway, J ; Ferrari, C ; De Gasperin, F ; Haverkorn, M ; Jackson, N ; Macario, G ; McKean, J ; Miraghaei, H ; Orrù, E ; Rafferty, D ; Röttgering, H ; Scaife, A ; Shulevski, A ; Sotomayor, C ; Tasse, C ; Trasatti, M ; Wucknitz, O ; Sharif University of Technology
2011
Abstract
The Low-Frequency Array (LOFAR) is under construction in the Netherlands and in several surrounding European countries. In this contribution, we describe the layout and design of the telescope, with particular emphasis on the imaging characteristics of the array when used in its 'standard imaging' mode. After briefly reviewing the calibration and imaging software used for LOFAR image processing, we show some recent results from the ongoing imaging commissioning efforts. We conclude by summarizing future prospects for the use of LOFAR in observing the little-explored low-frequency Universe