Novel deletion mutations of the PIH1D3 gene in an infertile young man with primary ciliary dyskinesia and his cousin with Kartagener's syndrome

被引:7
作者
Huang, Chuan [1 ,2 ,3 ]
Liu, Na-Chuan [1 ,2 ]
Wang, Xiao-Bo [1 ,2 ]
Gu, Ben-Hong [4 ]
Zhang, Jian-Xiong [1 ,2 ]
Li-Zhang [1 ,2 ]
Li, Zheng [1 ,2 ]
机构
[1] Ctr Mens Hlth, Dept Androl, Shanghai, Peoples R China
[2] Shanghai Jiao Tong Univ, Shanghai Key Lab Reprod Med, Shanghai Gen Hosp, Dept ART,Inst Urol,Med Ctr, Shanghai 200080, Peoples R China
[3] Reprod & Genet Hosp CITIC Xiangya, Human Sperm Bank, Changsha 410000, Peoples R China
[4] Shanghai Jiao Tong Univ, Sch Med, Tongren Hosp, Dept Urol, Shanghai 200080, Peoples R China
基金
中国博士后科学基金; 国家重点研发计划;
关键词
D O I
10.4103/aja.aja_43_20
中图分类号
R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
摘要
引用
收藏
页码:330 / 332
页数:3
相关论文
共 8 条
[1]   Primary ciliary dyskinesia: diagnosis and standards of care [J].
Bush, A ;
Cole, P ;
Hariri, M ;
Mackay, I ;
Phillips, G ;
O'Callaghan, C ;
Wilson, R ;
Warner, JO .
EUROPEAN RESPIRATORY JOURNAL, 1998, 12 (04) :982-988
[2]   EVIDENCE FOR DECREASING QUALITY OF SEMEN DURING PAST 50 YEARS [J].
CARLSEN, E ;
GIWERCMAN, A ;
KEIDING, N ;
SKAKKEBAEK, NE .
BRITISH MEDICAL JOURNAL, 1992, 305 (6854) :609-613
[3]   Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome [J].
Leigh, Margaret W. ;
Pittman, Jessica E. ;
Carson, Johnny L. ;
Ferkol, Thomas W. ;
Dell, Sharon D. ;
Davis, Stephanie D. ;
Knowles, Michael R. ;
Zariwala, Maimoona A. .
GENETICS IN MEDICINE, 2009, 11 (07) :473-487
[4]   Primary ciliary dyskinesia - Diagnostic and phenotypic features [J].
Noone, PG ;
Leigh, MW ;
Sannuti, A ;
Minnix, SL ;
Carson, JL ;
Hazucha, M ;
Zariwala, MA ;
Knowles, MR .
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2004, 169 (04) :459-467
[5]   X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 [J].
Olcese, Chiara ;
Patel, Mitali P. ;
Shoemark, Amelia ;
Kiviluoto, Santeri ;
Legendre, Marie ;
Williams, Hywel J. ;
Vaughan, Cara K. ;
Hayward, Jane ;
Goldenberg, Alice ;
Emes, Richard D. ;
Munye, Mustafa M. ;
Dyer, Laura ;
Cahill, Thomas ;
Bevillard, Jeremy ;
Gehrig, Corinne ;
Guipponi, Michel ;
Chantot, Sandra ;
Duquesnoy, Philippe ;
Thomas, Lucie ;
Jeanson, Ludovic ;
Copin, Bruno ;
Tamalet, Aline ;
Thauvin-Robinet, Christel ;
Papon, Jean-Francois ;
Garin, Antoine ;
Pin, Isabelle ;
Vera, Gabriella ;
Aurora, Paul ;
Fassad, Mahmoud R. ;
Jenkins, Lucy ;
Boustred, Christopher ;
Cullup, Thomas ;
Dixon, Mellisa ;
Onoufriadis, Alexandros ;
Bush, Andrew ;
Chung, Eddie M. K. ;
Antonarakis, Stylianos E. ;
Loebinger, Michael R. ;
Wilson, Robert ;
Armengot, Miguel ;
Escudier, Estelle ;
Hogg, Claire ;
Amselem, Serge ;
Sun, Zhaoxia ;
Bartoloni, Lucia ;
Blouin, Jean-Louis ;
Mitchison, Hannah M. .
NATURE COMMUNICATIONS, 2017, 8
[6]   Mutations in PIH1 D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects [J].
Paff, Tamara ;
Loges, Niki T. ;
Aprea, Isabella ;
Wu, Kaman ;
Bakey, Zeineb ;
Haarman, Eric G. ;
Daniels, Johannes M. A. ;
Sistermans, Erik A. ;
Bogunovic, Natalija ;
Dougherty, Gerard W. ;
Hoeben, Inga M. ;
Grosse-Onnebrink, Jorg ;
Matter, Anja ;
Olbrich, Heike ;
Werner, Claudius ;
Pals, Gerard ;
Schmidts, Miriam ;
Omran, Heymut ;
Micha, Dimitra .
AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 100 (01) :160-168
[7]   Laterality Defects Other Than Situs Inversus Totalis in Primary Ciliary Dyskinesia Insights Into Situs Ambiguus and Heterotaxy [J].
Shapiro, Adam J. ;
Davis, Stephanie D. ;
Ferkol, Thomas ;
Dell, Sharon D. ;
Rosenfeld, Margaret ;
Olivier, Kenneth N. ;
Sagel, Scott D. ;
Milla, Carlos ;
Zariwala, Maimoona A. ;
Wolf, Whitney ;
Carson, Johnny L. ;
Hazucha, Milan J. ;
Burns, Kimberlie ;
Robinson, Blair ;
Knowles, Michael R. ;
Leigh, Margaret W. .
CHEST, 2014, 146 (05) :1176-1186
[8]   A human protein atlas for normal and cancer tissues based on antibody proteomics [J].
Uhlén, M ;
Björling, E ;
Agaton, C ;
Szigyarto, CA ;
Amini, B ;
Andersen, E ;
Andersson, AC ;
Angelidou, P ;
Asplund, A ;
Asplund, C ;
Berglund, L ;
Bergström, K ;
Brumer, H ;
Cerjan, D ;
Ekström, M ;
Elobeid, A ;
Eriksson, C ;
Fagerberg, L ;
Falk, R ;
Fall, J ;
Forsberg, M ;
Björklund, MG ;
Gumbel, K ;
Halimi, A ;
Hallin, I ;
Hamsten, C ;
Hansson, M ;
Hedhammar, M ;
Hercules, G ;
Kampf, C ;
Larsson, K ;
Linskog, M ;
Lodewyckx, W ;
Lund, J ;
Lundeberg, J ;
Magnusson, K ;
Malm, E ;
Nilsson, P ;
Ödling, J ;
Oksvold, P ;
Olsson, I ;
Öster, E ;
Ottosson, J ;
Paavilainen, L ;
Persson, A ;
Rimini, R ;
Rockberg, J ;
Runeson, M ;
Sivertsson, Å ;
Sköllermo, A .
MOLECULAR & CELLULAR PROTEOMICS, 2005, 4 (12) :1920-1932