TY  - GEN
AU  - Lindert,Uschi
AU  - Cabral,Wayne A
AU  - Ausavarat,Surasawadee
AU  - Tongkobpetch,Siraprapa
AU  - Ludin,Katja
AU  - Barnes,Aileen M
AU  - Yeetong,Patra
AU  - Weis,Maryann
AU  - Krabichler,Birgit
AU  - Srichomthong,Chalurmpon
AU  - Makareeva,Elena N
AU  - Janecke,Andreas R
AU  - Leikin,Sergey
AU  - Röthlisberger,Benno
AU  - Rohrbach,Marianne
AU  - Kennerknecht,Ingo
AU  - Eyre,David R
AU  - Suphapeetiporn,Kanya
AU  - Giunta,Cecilia
AU  - Marini,Joan C
AU  - Shotelersuk,Vorasuk
TI  - MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
SN  - 2041-1723
PY  - 2018///0822
KW  - Activating Transcription Factor 6
KW  - genetics
KW  - Adult
KW  - Aged
KW  - Cell Differentiation
KW  - Cell Membrane
KW  - metabolism
KW  - Collagen Type I
KW  - deficiency
KW  - Cyclic AMP Response Element-Binding Protein
KW  - Gene Expression Regulation
KW  - Genes, Recessive
KW  - Humans
KW  - Hydroxylation
KW  - Male
KW  - Metalloendopeptidases
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Nerve Tissue Proteins
KW  - Osteoblasts
KW  - Osteogenesis Imperfecta
KW  - Pedigree
KW  - Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase
KW  - Proteolysis
KW  - Severity of Illness Index
KW  - Sterol Regulatory Element Binding Proteins
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ncomms11920
ER  -