A novel missense mutation in P4HB causes mild osteogenesis imperfecta

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta

(2018) Julia Mrosk et al.   BONE

Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X

(2018) Y. Song et al.   OSTEOPOROSIS INTERNATIONAL

Cole-Carpenter syndrome in a patient from Thailand

(2018) Thantrira Porntaveetus et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

P4HBrecurrent missense mutation causing Cole-Carpenter syndrome

(2017) Meena Balasubramanian et al.   JOURNAL OF MEDICAL GENETICS

Cole–Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl

(2017) Lixue Ouyang et al.   MEDICINE

A novel large fragment deletion in PLS3 causes rare X-linked early-onset osteoporosis and response to zoledronic acid

(2017) F. Lv et al.   OSTEOPOROSIS INTERNATIONAL

Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing

(2017) Y. Liu et al.   OSTEOPOROSIS INTERNATIONAL

Osteogenesis imperfecta

(2017) Joan C. Marini et al.   Nature Reviews Disease Primers

Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI

(2016) Jian-yi Wang et al.   CALCIFIED TISSUE INTERNATIONAL

EFFECTS OF LONG-TERM ALENDRONATE TREATMENT ON A LARGE SAMPLE OF PEDIATRIC PATIENTS WITH OSTEOGENESIS IMPERFECTA

(2016) Fang Lv et al.   Endocrine Practice

Osteogenesis imperfecta in children and adolescents—new developments in diagnosis and treatment

(2016) P. Trejo et al.   OSTEOPOROSIS INTERNATIONAL

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

(2016) Uschi Lindert et al.   Nature Communications

Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB

(2015) Frank Rauch et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial

(2013) Nick Bishop et al.   LANCET

Bone Mineral Density of the Spine in 11,898 Chinese Infants and Young Children: A Cross-Sectional Study

(2013) Haiqing Xu et al.   PLoS One

Protein Folding Drives Disulfide Formation

(2012) Pallav Kosuri et al.   CELL

The Protein Disulfide Isomerase Family: Key Players in Health and Disease

(2011) Adam M. Benham   ANTIOXIDANTS & REDOX SIGNALING

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

(2011) Shawna M. Pyott et al.   HUMAN MOLECULAR GENETICS

Evaluation, Treatment, and Prevention of Vitamin D Deficiency: an Endocrine Society Clinical Practice Guideline

(2011) Michael F. Holick et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A structural overview of the PDI family of proteins

(2010) Guennadi Kozlov et al.   FEBS Journal

Protein Disulfide Isomerase: A Critical Evaluation of Its Function in Disulfide Bond Formation

(2009) Feras Hatahet et al.   ANTIOXIDANTS & REDOX SIGNALING

Prolyl 4-hydroxylases, key enzymes in the synthesis of collagens and regulation of the response to hypoxia, and their roles as treatment targets

(2008) Johanna Myllyharju   ANNALS OF MEDICINE

ER Stress-Mediated Apoptosis in a New Mouse Model of Osteogenesis imperfecta

(2008) Thomas S. Lisse et al.   PLoS Genetics