A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia. (Record no. 19550381)

MARC details
000 -LEADER
fixed length control field 02208 a2200649 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515210530.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201007s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1460-2083
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1093/hmg/ddq083
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 Simon, Delphine
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20100721
245 00 - TITLE STATEMENT
Title A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human molecular genetics
Date of publication, distribution, etc. May 2010
300 ## - PHYSICAL DESCRIPTION
Extent 2015-27 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element 3' Untranslated Regions
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Acetylation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Base Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cell Line
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 Fetus
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Fibroblasts
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Dosage
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Expression Regulation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genes, Dominant
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Diseases, X-Linked
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Histone Deacetylase 6
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Histone Deacetylases
General subdivision genetics
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 Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element MicroRNAs
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Molecular Sequence Data
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Osteochondrodysplasias
General subdivision enzymology
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 RNA Processing, Post-Transcriptional
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA Stability
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Analysis, DNA
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Skin
General subdivision pathology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Thymus Gland
General subdivision enzymology
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Laloo, Benoit
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Barillot, Malika
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Barnetche, Thomas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Blanchard, Camille
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rooryck, Caroline
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Marche, Michèle
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Burgelin, Ingrid
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Coupry, Isabelle
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chassaing, Nicolas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gilbert-Dussardier, Brigitte
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lacombe, Didier
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Grosset, Christophe
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Arveiler, Benoit
773 0# - HOST ITEM ENTRY
Title Human molecular genetics
Related parts vol. 19
-- no. 10
-- p. 2015-27
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1093/hmg/ddq083">https://doi.org/10.1093/hmg/ddq083</a>
Public note Available from publisher's website

No items available.