Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus
- Author
- JEONG HO LEE1 ; SILHAVY, Jennifer L1 ; GABRIEL, Stacey B7 ; RUSS, Carsten7 ; LOGAN, Clare V8 ; MALIK SHARIF, Saghira8 ; BENNETT, Christopher P8 ; ABE, Masumi9 ; HILDEBRANDT, Friedhelm10 ; DIPLAS, Bill H11 ; ATTIE-BITACH, Tania3 ; KATSANIS, Nicholas4 5 ; JI EUN LEE1 ; RAJAB, Anna12 ; KOUL, Roshan13 ; SZTRIHA, Laszlo14 ; WATERS, Elizabeth R15 ; FERRO-NOVICK, Susan16 ; GEOFFREY WOODS, C17 ; JOHNSON, Colin A8 ; MARIA VALENCE, Enza6 ; ZAKI, Maha S18 ; GLEESON, Joseph G1 ; AL-GAZALI, Lihadh2 ; THOMAS, Sophie3 ; DAVIS, Erica E4 ; BIELAS, Stephanie L1 ; HILL, Kiley J1 ; LANNICELLI, Miriam6 ; BRANCATI, Francesco6
[1] Neurogenetics Laboratory, Howard Hughes Medical Institute (HHMI), Department of Neurosciences, University of California, San Diego, CA, United States
[2] Departments of Pediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates
[3] Département de Génétique, INSERM U781, Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris, France
[4] Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, United States
[5] Department of Cell Biology and Pediatrics, Duke University Medical Center, Durham, NC, United States
[6] Istituto di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza, Mendel Laboratory, San Giovanni Rotondo, Italy
[7] Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, United States
[8] Department of Clinical Genetics, Yorkshire Regional Genetics Service, St. James's University Hospital, Beckett, United Kingdom
[9] Transcriptome Research Center, National Institute of Radiological Sciences, Chiba-shi, Japan
[10] HHMI, Department of Pediatrics, University of Michigan, Ann Arbor, MI, United States
[11] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States
[12] Genetic Unit, Directorate General of Health Affairs, Ministry of Health, Muscat, Oman
[13] Department of Child Health (Neurology), Sultan Qaboos University Hospital, College of Medicine and Health Sciences, Muscat, Oman
[14] Department of Pediatrics, Division B, University of Szeged, Szeged, Hungary
[15] Biology Department, San Diego State University, San Diego, CA, United States
[16] Department of Cellular and Molecular Medicine, HHMI, University of California at San Diego (UCSD), La Jolla, CA, United States
[17] Section of Ophthalmology and Neurosciences, Wellcome Trust Brenner Building, Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, United Kingdom
[18] Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Dokki, Giza, Egypt - Source
Science (Washington, D.C.). 2012, Vol 335, Num 6071, pp 966-969, 4 p ; ref : 20 ref
- CODEN
- SCIEAS
- ISSN
- 0036-8075
- Scientific domain
- Multidisciplinary
- Publisher
- American Association for the Advancement of Science, Washington, DC
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Génétique Homme Mutation Syndrome de Joubert Maladie héréditaire Malformation Pathologie de l'encéphale Pathologie du système nerveux central Pathologie du système nerveux
- Keyword (en)
- Genetics Human Mutation Joubert syndrome Genetic disease Malformation Cerebral disorder Central nervous system disease Nervous system diseases
- Keyword (es)
- Genética Hombre Mutación Joubert síndrome Enfermedad hereditaria Malformación Encéfalo patología Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution / 002A07C Classical genetics, quantitative genetics, hybrids / 002A07C03 Human
- Discipline
- Eukaryotes genetics. Biological and molecular evolution
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 25565273
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1126/science.1213506 
https://dx.doi.org/10.1126/science.1213506
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