Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.
作者:
Wayne A,Cabral [1]
;
Masaki,Ishikawa [2]
;
Matthias,Garten [3]
;
Elena N,Makareeva [4]
;
Brandi M,Sargent [1]
;
MaryAnn,Weis [5]
;
Aileen M,Barnes [1]
;
Emma A,Webb [6]
;
Nicholas J,Shaw [7]
;
Leena,Ala-Kokko [7]
;
Felicitas L,Lacbawan [8]
;
Wolfgang,Högler [9]
;
Sergey,Leikin [6]
;
Paul S,Blank [7]
;
Joshua,Zimmerberg [4]
;
David R,Eyre [3]
;
Yoshihiko,Yamada [3]
;
Joan C,Marini [5]
作者单位:
Section on Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, Bethesda, Maryland, United States of America.
[1]
Molecular Biology Section, NIDCR, NIH, Bethesda, Maryland, United States of America.
[2]
Section on Integrative Biophysics, NICHD, NIH, Bethesda, Maryland, United States of America.
[3]
Section on Physical Biochemistry, NICHD, NIH, Bethesda, Maryland, United States of America.
[4]
Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America.
[5]
School of Clinical and Experimental Medicine, Institute of Biomedical Research, University of Birmingham, Birmingham, United Kingdom.
[6]
Department of Endocrinology and Diabetes, Birmingham Children's Hospital, Birmingham, United Kingdom.
[7]
Connective Tissue Gene Tests, Allentown, Pennsylvania, United States of America.
[8]
Department of Medical Genetics, Children's National Medical Center, Washington D.C., United States of America.
[9]
期刊:
《PLoS genetics》
2016年12卷7期e1006156页
DOI:
10.1371/journal.pgen.1006156
PMID:
27441836
发布时间:
2020-12-15
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