MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. (Record no. 26193637)

MARC details
000 -LEADER
fixed length control field 02447 a2200709 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517103756.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201808s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 2041-1723
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/ncomms11920
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 Lindert, Uschi
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20180822
245 00 - TITLE STATEMENT
Title MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Nature communications
Date of publication, distribution, etc. 07 2016
300 ## - PHYSICAL DESCRIPTION
Extent 11920 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Activating Transcription Factor 6
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cell Differentiation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cell Membrane
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Collagen Type I
General subdivision deficiency
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cyclic AMP Response Element-Binding Protein
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, Recessive
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 Hydroxylation
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 Metalloendopeptidases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Middle Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation, Missense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Nerve Tissue Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Osteoblasts
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Osteogenesis Imperfecta
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 Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Proteolysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Severity of Illness Index
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sterol Regulatory Element Binding Proteins
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cabral, Wayne A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ausavarat, Surasawadee
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tongkobpetch, Siraprapa
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ludin, Katja
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Barnes, Aileen M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yeetong, Patra
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Weis, Maryann
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Krabichler, Birgit
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Srichomthong, Chalurmpon
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Makareeva, Elena N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Janecke, Andreas R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Leikin, Sergey
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Röthlisberger, Benno
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rohrbach, Marianne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kennerknecht, Ingo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Eyre, David R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Suphapeetiporn, Kanya
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Giunta, Cecilia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Marini, Joan C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shotelersuk, Vorasuk
773 0# - HOST ITEM ENTRY
Title Nature communications
Related parts vol. 7
-- p. 11920
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/ncomms11920">https://doi.org/10.1038/ncomms11920</a>
Public note Available from publisher's website

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