AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degenerat...
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
About this item
Full title
Author / Creator
Louie, Carrie M , Caridi, Gianluca , Lopes, Vanda S , Brancati, Francesco , Kispert, Andreas , Lancaster, Madeline A , Schlossman, Andrew M , Otto, Edgar A , Leitges, Michael , Gröne, Hermann-Josef , Lopez, Irma , Gudiseva, Harini V , O'Toole, John F , Vallespin, Elena , Ayyagari, Radha , Ayuso, Carmen , Cremers, Frans P M , den Hollander, Anneke I , Koenekoop, Robert K , Dallapiccola, Bruno , Ghiggeri, Gian Marco , Hildebrandt, Friedhelm , Valente, Enza Maria , Williams, David S and Gleeson, Joseph G
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Joseph Gleeson and colleagues show that
Ahi1
is required in mice for retinal outer segment development and displays dosage-sensitive genetic interactions with
Nphp1
. They further show that a missense allele of
AHI1
in humans modifies risk of retinal degeneration among individuals with nephronophthisis.
Degeneration of photorec...
Alternative Titles
Full title
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
Authors, Artists and Contributors
Author / Creator
Caridi, Gianluca
Lopes, Vanda S
Brancati, Francesco
Kispert, Andreas
Lancaster, Madeline A
Schlossman, Andrew M
Otto, Edgar A
Leitges, Michael
Gröne, Hermann-Josef
Lopez, Irma
Gudiseva, Harini V
O'Toole, John F
Vallespin, Elena
Ayyagari, Radha
Ayuso, Carmen
Cremers, Frans P M
den Hollander, Anneke I
Koenekoop, Robert K
Dallapiccola, Bruno
Ghiggeri, Gian Marco
Hildebrandt, Friedhelm
Valente, Enza Maria
Williams, David S
Gleeson, Joseph G
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_21323419
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_21323419
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.519
