换一批
换一批CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
作者：
Nafisa,Nuzhat [1]
;
Kristof,Van Schil [2]
;
Sandra,Liakopoulos [3]
;
Miriam,Bauwens [4]
;
Alfredo Dueñas,Rey [5]
;
Stephan,Käseberg [2]
;
Melanie,Jäger [3]
;
Jason R,Willer [2]
;
Jennifer,Winter [3]
;
Hanh M,Truong [6]
;
Nuria,Gruartmoner [7]
;
Mattias,Van Heetvelde [8]
;
Joachim,Wolf [9]
;
Robert,Merget [6]
;
Sabine,Grasshoff-Derr [10]
;
Jo,Van Dorpe [2]
;
Anne,Hoorens [3]
;
Heidi,Stöhr [2]
;
Luke,Mansard [3]
;
Anne-Françoise,Roux [11]
;
Thomas,Langmann [11]
;
Katharina,Dannhausen [12]
;
David,Rosenkranz [13]
;
Karl M,Wissing [14]
;
Michel,Van Lint [13]
;
Heidi,Rossmann [14]
;
Friederike,Häuser [15]
;
Peter,Nürnberg [16]
;
Holger,Thiele [16]
;
Ulrich,Zechner [17]
;
Jillian N,Pearring [17]
;
Elfride,De Baere [18]
;
Hanno J,Bolz [19]
作者单位：
Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, Michigan, USA.
[1]
Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
[2]
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
[3]
Cologne Image Reading Center, Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany.
[4]
Department of Ophthalmology, Goethe University, Frankfurt, Germany.
[5]
Institute of Human Genetics, University Medical Center Mainz, Mainz, Germany.
[6]
Department of Ophthalmology, Justus-Liebig-University Giessen, Giessen, Germany.
[7]
Augenarztpraxis Bad Brückenau, Bad Brückenau, Germany.
[8]
Department of Ophthalmology and.
[9]
Cell and Molecular Biology Program, University of Michigan, Ann Arbor, Michigan, USA.
[10]
Department of Radiology and.
[11]
Department of Pediatric Surgery, Bürgerhospital, Frankfurt am Main, Germany.
[12]
Department of Diagnostic Sciences, Ghent University, Ghent, Belgium.
[13]
Department of Pathology, Ghent University Hospital, Ghent, Belgium.
[14]
Institute of Human Genetics, University of Regensburg, Regensburg, Germany.
[15]
Laboratoire de Génétique Moléculaire, CHU de Montpellier, Université de Montpellier, Montpellier, France.
[16]
Laboratory for Experimental Immunology of the Eye, Department of Ophthalmology, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
[17]
Senckenberg Centre for Human Genetics, Frankfurt am Main, Germany.
[18]
Department of Nephrology and.
[19]
Department of Ophthalmology, Brussels University Hospital, Jette, Belgium.
[20]
Institute of Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz, Mainz, Germany.
[21]
Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
[22]
Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
[23]
Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
[24]
主题词
动物(Animals);人类(Humans);小鼠(Mice);中心体(Centrosome);纤毛(Cilia);微管相关蛋白质类(Microtubule-Associated Proteins);神经发生(Neurogenesis);视网膜(Retina);视网膜变性(Retinal Degeneration)
DOI
10.1172/JCI161156
PMID
36862503
发布时间
2024-05-17
- 浏览0
The Journal of clinical investigation
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