Associated Papers
Endoplasmic reticulum stress causes long bone shortening in P4hbC402R/+ mice: A mouse model exhibiting significant features of cole-carpenter syndrome driven by P4HB mutations.
Xu S et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025
A molecular dynamics approach on the Y393C variant of protein disulfide isomerase A1.
Madero-Ayala PA et al.
Chemical Biology & Drug Design, 2020
A novel missense mutation in P4HB causes mild osteogenesis imperfecta.
Li L et al.
Bioscience Reports, 2019
Cole-Carpenter syndrome in a patient from Thailand.
Porntaveetus T et al.
American Journal of Medical Genetics. Part A, 2018
P4HB recurrent missense mutation causing Cole-Carpenter syndrome.
Balasubramanian M et al.
Journal of Medical Genetics, 2018
Heritable Skeletal Disorders Arising from Defects in Processing and Transport of Type I Procollagen from the ER: Perspectives on Possible Therapeutic Approaches.
Cutrona MB et al.
Handbook of Experimental Pharmacology, 2018
Cole-Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl: A case report.
Ouyang L et al.
Medicine, 2017
DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.
Bardai G et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2016
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB.
Rauch F et al.
American Journal of Human Genetics, 2015
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