Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus
Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus
About this item
Full title
Author / Creator
Lee, Jeong Ho , Silhavy, Jennifer L. , Lee, Ji Eun , Al-Gazali, Lihadh , Thomas, Sophie , Davis, Erica E. , Bielas, Stephanie L. , Hill, Kiley J. , Iannicelli, Miriam , Brancati, Francesco , Gabriel, Stacey B. , Russ, Carsten , Logan, Clare V. , Sharif, Saghira Malik , Bennett, Christopher P. , Abe, Masumi , Hildebrandt, Friedhelm , Diplas, Bill H. , Attié-Bitach, Tania , Katsanis, Nicholas , Rajab, Anna , Koul, Roshan , Sztriha, Laszlo , Waters, Elizabeth R. , Ferro-Novick, Susan , Woods, C. Geoffrey , Johnson, Colin A. , Valente, Enza Maria , Zaki, Maha S. and Gleeson, Joseph G.
Publisher
Washington, DC: American Association for the Advancement of Science
Journal title
Language
English
Formats
Publication information
Publisher
Washington, DC: American Association for the Advancement of Science
Subjects
More information
Scope and Contents
Contents
Cilia were once thought to be evolutionary remnants, but structural defects reveal their importance in signaling pathways and human disease, such as Joubert syndrome. Either of the genes
TMEM138
and
TMEM216
can be found mutated in phenotypically indistinguishable ciliopathy patients. Interestingly, despite their lack of sequence homolog...
Alternative Titles
Full title
Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus
Authors, Artists and Contributors
Author / Creator
Silhavy, Jennifer L.
Lee, Ji Eun
Al-Gazali, Lihadh
Thomas, Sophie
Davis, Erica E.
Bielas, Stephanie L.
Hill, Kiley J.
Iannicelli, Miriam
Brancati, Francesco
Gabriel, Stacey B.
Russ, Carsten
Logan, Clare V.
Sharif, Saghira Malik
Bennett, Christopher P.
Abe, Masumi
Hildebrandt, Friedhelm
Diplas, Bill H.
Attié-Bitach, Tania
Katsanis, Nicholas
Rajab, Anna
Koul, Roshan
Sztriha, Laszlo
Waters, Elizabeth R.
Ferro-Novick, Susan
Woods, C. Geoffrey
Johnson, Colin A.
Valente, Enza Maria
Zaki, Maha S.
Gleeson, Joseph G.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3671610
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3671610
Other Identifiers
ISSN
0036-8075
E-ISSN
1095-9203
DOI
10.1126/science.1213506
