The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. (Record no. 16283748)

MARC details
000 -LEADER
fixed length control field 02577 a2200865 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515024806.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200608s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1061-4036
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/ng1786
Source of number or code doi
040 ## - CATALOGING SOURCE
Original cataloging agency NLM
Language of cataloging eng
Transcribing agency NLM
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name Sayer, John A
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20060830
245 00 - TITLE STATEMENT
Title The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Nature genetics
Date of publication, distribution, etc. Jun 2006
300 ## - PHYSICAL DESCRIPTION
Extent 674-81 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Activating Transcription Factor 4
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Animals
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Antigens, Neoplasm
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cell Cycle Proteins
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cytoskeletal Proteins
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Linkage
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element In Situ Hybridization
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neoplasm Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Syndrome
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Zebrafish
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Otto, Edgar A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name O'Toole, John F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nurnberg, Gudrun
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kennedy, Michael A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Becker, Christian
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Personal name Hennies, Hans Christian
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Personal name Helou, Juliana
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Personal name Attanasio, Massimo
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Personal name Fausett, Blake V
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Personal name Utsch, Boris
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Khanna, Hemant
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Liu, Yan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Drummond, Iain
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Personal name Kawakami, Isao
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Personal name Kusakabe, Takehiro
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Personal name Tsuda, Motoyuki
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Personal name Ma, Li
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Personal name Lee, Hwankyu
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Personal name Larson, Ronald G
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Personal name Allen, Susan J
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Personal name Wilkinson, Christopher J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nigg, Erich A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shou, Chengchao
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Personal name Lillo, Concepcion
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Personal name Williams, David S
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Personal name Hoppe, Bernd
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Personal name Kemper, Markus J
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Personal name Neuhaus, Thomas
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Personal name Parisi, Melissa A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Glass, Ian A
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Personal name Petry, Marianne
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Personal name Kispert, Andreas
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Personal name Gloy, Joachim
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Personal name Ganner, Athina
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Personal name Walz, Gerd
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhu, Xueliang
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Goldman, Daniel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nurnberg, Peter
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Personal name Swaroop, Anand
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Leroux, Michel R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hildebrandt, Friedhelm
773 0# - HOST ITEM ENTRY
Title Nature genetics
Related parts vol. 38
-- no. 6
-- p. 674-81
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/ng1786">https://doi.org/10.1038/ng1786</a>
Public note Available from publisher's website

No items available.