Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta

(2019) Brecht Guillemyn et al.   HUMAN MOLECULAR GENETICS

NOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA

(2019) Yang-Jia Cao et al.   Endocrine Practice

A novel missense mutation in P4HB causes mild osteogenesis imperfecta

(2019) Lujiao Li et al.   BIOSCIENCE REPORTS

Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties

(2018) Meena Balasubramanian et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

4-PBA ameliorates cellular homeostasis in fibroblasts from osteogenesis imperfecta patients by enhancing autophagy and stimulating protein secretion

(2018) Roberta Besio et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment

(2018) Melissa Fiscaletti et al.   BONE

Crispr-Cas9 engineered osteogenesis imperfecta type V leads to severe skeletal deformities and perinatal lethality in mice

(2018) Frank Rauch et al.   BONE

Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy

(2018) Katarina Lindahl et al.   BONE

Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis

(2018) Tim Rolvien et al.   CALCIFIED TISSUE INTERNATIONAL

The endoplasmic reticulum-resident collagen chaperone Hsp47 interacts with and promotes the secretion of decorin, fibromodulin and lumican

(2018) Yoshihiro Ishikawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A novel frameshift deletion in PLS3 causing severe primary osteoporosis

(2018) Alice Costantini et al.   JOURNAL OF HUMAN GENETICS

FAM46Amutations are responsible for autosomal recessive osteogenesis imperfecta

(2018) Mathilde Doyard et al.   JOURNAL OF MEDICAL GENETICS

Interactome Screening Identifies the ER Luminal Chaperone Hsp47 as a Regulator of the Unfolded Protein Response Transducer IRE1α

(2018) Denisse Sepulveda et al.   MOLECULAR CELL

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

(2018) Y. Song et al.   OSTEOPOROSIS INTERNATIONAL

Heterozygous WNT1 variant causing a variable bone phenotype

(2018) Shatha Alhamdi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pigment epithelium derived factor regulates human Sost/Sclerostin and other osteocyte gene expression via the receptor and induction of Erk/GSK-3beta/beta-catenin signaling

(2018) Feng Li et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Fam46a regulates BMP-dependent pre-placodal ectoderm differentiation in Xenopus

(2018) Tomoko Watanabe et al.   DEVELOPMENT

Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively

(2017) Rachel B Keller et al.   GENETICS IN MEDICINE

Heat shock protein 47 and 65-kDa FK506-binding protein weakly but synergistically interact during collagen folding in the endoplasmic reticulum

(2017) Yoshihiro Ishikawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone

(2017) Caressa D Lietman et al.   JOURNAL OF BONE AND MINERAL RESEARCH

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization

(2017) Anders J Kämpe et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen

(2017) Ivan Duran et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation

(2017) Stéphane Blouin et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect

(2017) Emma A. Webb et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Osteocyte-specific WNT1 regulates osteoblast function during bone homeostasis

(2017) Kyu Sang Joeng et al.   JOURNAL OF CLINICAL INVESTIGATION

Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective

(2017) Assunta Gagliardi et al.   Journal of Proteomics

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants

(2017) A. J. Kämpe et al.   OSTEOPOROSIS INTERNATIONAL

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

Long-term follow-up in osteogenesis imperfecta type VI

(2017) P. Trejo et al.   OSTEOPOROSIS INTERNATIONAL

Biology of Hsp47 (Serpin H1), a collagen-specific molecular chaperone

(2017) Shinya Ito et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia

(2017) Heeseog Kang et al.   Translational Research

Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility

(2017) Riikka E. Mäkitie et al.   Current Osteoporosis Reports

Osteogenesis imperfecta

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

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families

(2017) Osama Essawi et al.   Molecular Genetics & Genomic Medicine

The osteogenic cell surface marker BRIL/IFITM5 is dispensable for bone development and homeostasis in mice

(2017) Alexa Patoine et al.   PLoS One

The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype

(2016) Seyyedmohsen Hosseinibarkooie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features

(2016) Eriko Nishi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pigment epithelium derived factor upregulates expression of vascular endothelial growth factor by human mesenchymal stem cells: Possible role in PEDF regulated matrix mineralization

(2016) Feng Li et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Osteogenesis imperfecta type V: Genetic and clinical findings in eleven Chinese patients

(2016) Yi Liu et al.   CLINICA CHIMICA ACTA

Pigment epithelium–derived factor restoration increases bone mass and improves bone plasticity in a model of osteogenesis imperfecta type VI via Wnt3a blockade

(2016) Glenn S. Belinsky et al.   FASEB JOURNAL

A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly

(2016) Charlotte Marshall et al.   GENE

The pH-dependent Client Release from the Collagen-specific Chaperone HSP47 Is Triggered by a Tandem Histidine Pair

(2016) Sinan Oecal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults

(2016) Riikka E Mäkitie et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Osteoblast Malfunction Caused by Cell Stress Response to Procollagen Misfolding in α2(I)-G610C Mouse Model of Osteogenesis Imperfecta

(2016) Lynn S Mirigian et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Osteoblast-derived VEGF regulates osteoblast differentiation and bone formation during bone repair

(2016) Kai Hu et al.   JOURNAL OF CLINICAL INVESTIGATION

Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta

(2016) Fang Lv et al.   JOURNAL OF HUMAN GENETICS

Genetics meets pathology - an increasingly important relationship

(2016) David T Bonthron et al.   JOURNAL OF PATHOLOGY

Osteogenesis imperfecta

(2016) Antonella Forlino et al.   LANCET

Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia

(2016) Susanne Diener et al.   MAMMALIAN GENOME

SPARC/osteonectin in mineralized tissue

(2016) Emilie M. Rosset et al.   MATRIX BIOLOGY

Restoration of the serum level of SERPINF1 does not correct the bone phenotype in Serpinf1 null mice

(2016) Abbhirami Rajagopal et al.   MOLECULAR GENETICS AND METABOLISM

FAM46 proteins are novel eukaryotic non-canonical poly(A) polymerases

(2016) Krzysztof Kuchta et al.   NUCLEIC ACIDS RESEARCH

Intracellular mechanisms of molecular recognition and sorting for transport of large extracellular matrix molecules

(2016) Yoshihiro Ishikawa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mice lacking the intracellular cation channel TRIC-B have compromised collagen production and impaired bone mineralization

(2016) Chengzhu Zhao et al.   Science Signaling

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

(2016) Uschi Lindert et al.   Nature Communications

Sc65-Null Mice Provide Evidence for a Novel Endoplasmic Reticulum Complex Regulating Collagen Lysyl Hydroxylation

(2016) Melissa E. Heard et al.   PLoS Genetics

Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta

(2016) Wayne A. Cabral et al.   PLoS Genetics

Mice lacking the intracellular cation channel TRIC-B have compromised collagen production and impaired bone mineralization

(2016) Chengzhu Zhao et al.   Science Signaling

Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC

(2015) Roberto Mendoza-Londono et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Changes to the Disordered Phase and Apatite Crystallite Morphology during Mineralization by an Acidic Mineral Binding Peptide from Osteonectin

(2015) Taly Iline-Vul et al.   BIOMACROMOLECULES

Mechanistic and therapeutic insights gained from studying rare skeletal diseases

(2015) Laura L. Tosi et al.   BONE

Unique micro- and nano-scale mineralization pattern of human osteogenesis imperfecta type VI bone

(2015) Nadja Fratzl-Zelman et al.   BONE

Altered cytoskeletal organization characterized lethal but not surviving Brtl+/−mice: insight on phenotypic variability in osteogenesis imperfecta

(2015) Laura Bianchi et al.   HUMAN MOLECULAR GENETICS

Molecular Consequences of theSERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta

(2015) Uschi Lindert et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Novel Splice Mutation inPLS3Causes X-linked Early Onset Low-Turnover Osteoporosis

(2015) Christine M Laine et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A Transgenic Mouse Model of OI Type V Supports a Neomorphic Mechanism of theIFITM5Mutation

(2015) Caressa D Lietman et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Pigment Epithelium Derived Factor Suppresses Expression of Sost/Sclerostin by Osteocytes: Implication for Its Role in Bone Matrix Mineralization

(2015) Feng Li et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Type V OI Primary Osteoblasts Display Increased Mineralization Despite DecreasedCOL1A1Expression

(2015) Adi Reich et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Treatment options for osteogenesis imperfecta

(2015) Roberta Besio et al.   Expert Opinion on Orphan Drugs

Skeletal characteristics associated with homozygous and heterozygous WNT1 mutations

(2014) Telma Palomo et al.   BONE

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta

(2014) Elisa Rubinato et al.   GENE

Connective tissue alterations in Fkbp10−/− mice

(2014) Caressa D. Lietman et al.   HUMAN MOLECULAR GENETICS

The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations

(2014) Kyu Sang Joeng et al.   HUMAN MOLECULAR GENETICS

HSP47 and FKBP65 cooperate in the synthesis of type I procollagen

(2014) Ivan Duran et al.   HUMAN MOLECULAR GENETICS

Topological Mapping of BRIL Reveals a Type II Orientation and Effects of Osteogenesis Imperfecta Mutations on Its Cellular Destination

(2014) Alexa Patoine et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Osteoporosis Caused by Mutations inPLS3: Clinical and Bone Tissue Characteristics

(2014) Somayyeh Fahiminiya et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A NovelIFITM5Mutation in Severe Atypical Osteogenesis Imperfecta Type VI Impairs Osteoblast Production of Pigment Epithelium-Derived Factor

(2014) Charles R Farber et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Susceptibility to large-joint osteoarthritis (hip and knee) is associated with BAG6 rs3117582 SNP and the VNTR polymorphism in the second exon of the FAM46A gene on chromosome 6

(2014) Godfrey E. Etokebe et al.   JOURNAL OF ORTHOPAEDIC RESEARCH

Revisiting the matricellular concept

(2014) Joanne E. Murphy-Ullrich et al.   MATRIX BIOLOGY

Association of Variable Number of Tandem Repeats in the Coding Region of the FAM46A Gene, FAM46A rs11040 SNP and BAG6 rs3117582 SNP with Susceptibility to Tuberculosis

(2014) Godfrey Essien Etokebe et al.   PLoS One

Cartilage-Specific Ablation of Site-1 Protease in Mice Results in the Endoplasmic Reticulum Entrapment of Type IIB Procollagen and Down-Regulation of Cholesterol and Lipid Homeostasis

(2014) Debabrata Patra et al.   PLoS One

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

(2013) Shawna M. Pyott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in WNT1 Cause Different Forms of Bone Fragility

(2013) Katharina Keupp et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A molecular ensemble in the rER for procollagen maturation

(2013) Yoshihiro Ishikawa et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Mineral particle size in children with osteogenesis imperfecta type I is not increased independently of specific collagen mutations

(2013) Nadja Fratzl-Zelman et al.   BONE

Collagen prolyl 3-hydroxylation: a major role for a minor post-translational modification?

(2013) David M. Hudson et al.   CONNECTIVE TISSUE RESEARCH

Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations inMBTPS2

(2013) Dorothea Bornholdt et al.   HUMAN MUTATION

Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype ofFKBP10  Mutations

(2013) Aileen M. Barnes et al.   HUMAN MUTATION

A Mouse Model for Human Osteogenesis Imperfecta Type VI

(2013) Rosalind Bogan et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Sc65 Is a Novel Endoplasmic Reticulum Protein That Regulates Bone Mass Homeostasis

(2013) Katrin Gruenwald et al.   JOURNAL OF BONE AND MINERAL RESEARCH

WNT signaling in bone homeostasis and disease: from human mutations to treatments

(2013) Roland Baron et al.   NATURE MEDICINE

PLS3 Mutations in X-Linked Osteoporosis with Fractures

(2013) Fleur S. van Dijk et al.   NEW ENGLAND JOURNAL OF MEDICINE

WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

(2013) Christine M. Laine et al.   NEW ENGLAND JOURNAL OF MEDICINE

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

(2013) Sofie Symoens et al.   Orphanet Journal of Rare Diseases

TRIC-B channels display labile gating: evidence from the TRIC-A knockout mouse model

(2013) Elisa Venturi et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Comparative Gene-Expression Analysis of the Dental Follicle and Periodontal Ligament in Humans

(2013) Hyo-Seol Lee et al.   PLoS One

Pigment Epithelium-Derived Factor Enhances Differentiation and Mineral Deposition of Human Mesenchymal Stem Cells

(2013) Feng Li et al.   STEM CELLS

Population screening for the mutation associated with osteogenesis imperfecta in dachshunds

(2013) J. Eckardt et al.   VETERINARY RECORD

A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

(2012) Tae-Joon Cho et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus

(2012) Oliver Semler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

(2012) U. Schwarze et al.   HUMAN MOLECULAR GENETICS

Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality

(2012) Bastian Ackermann et al.   HUMAN MOLECULAR GENETICS

Absence ofFKBP10in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix

(2012) Aileen M. Barnes et al.   HUMAN MUTATION

The pH Sensitivity of Murine Heat Shock Protein 47 (HSP47) Binding to Collagen Is Affected by Mutations in the Breach Histidine Cluster

(2012) Mohd Firdaus Abdul-Wahab et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The molecular chaperone Hsp47 is essential for cartilage and endochondral bone formation

(2012) Y. Masago et al.   JOURNAL OF CELL SCIENCE

Comparative secretome analysis of human bone marrow-derived mesenchymal stem cells during osteogenesis

(2012) Jung-Min Kim et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Lack of Circulating Pigment Epithelium-Derived Factor Is a Marker of Osteogenesis Imperfecta Type VI

(2012) Frank Rauch et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of theIFITM5c.−14C>T mutation in all patients

(2012) Frank Rauch et al.   JOURNAL OF MEDICAL GENETICS

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined byTMEM38Bmutation

(2012) Ranad Shaheen et al.   JOURNAL OF MEDICAL GENETICS

Differential response to intracellular stress in the skin from osteogenesis imperfecta Brtl mice with lethal and non lethal phenotype: A proteomic approach

(2012) Laura Bianchi et al.   Journal of Proteomics

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

(2011) Jutta Becker et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Osteoblast-enriched membrane protein IFITM5 regulates the association of CD9 with an FKBP11–CD81–FPRP complex and stimulates expression of interferon-induced genes

(2011) Nobutaka Hanagata et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

An Integrative Review of Mechanotransduction in Endothelial, Epithelial (Renal) and Dendritic Cells (Osteocytes)

(2011) Sheldon Weinbaum et al.   Cellular and Molecular Bioengineering

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta

(2011) Katarina Lindahl et al.   HUMAN MUTATION

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

(2011) Víctor Martínez-Glez et al.   HUMAN MUTATION

Pigment Epithelium-derived Factor (PEDF) Shares Binding Sites in Collagen with Heparin/Heparan Sulfate Proteoglycans

(2011) Atsushi Sekiya et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations in SERPINF1 cause osteogenesis imperfecta type VI

(2011) Erica P Homan et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Proteomic characterization of biogenesis and functions of matrix vesicles released from mineralizing human osteoblast-like cells

(2011) Cyril Thouverey et al.   Journal of Proteomics

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

(2011) Hala Mégarbané et al.   Orphanet Journal of Rare Diseases

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

(2010) Pablo Lapunzina et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

(2010) Yasemin Alanay et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

(2010) Helena E. Christiansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Regulation of Sealing Ring Formation by L-plastin and Cortactin in Osteoclasts

(2010) Tao Ma et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice

(2010) Nobutaka Hanagata et al.   JOURNAL OF BONE AND MINERAL METABOLISM

Autophagy: assays and artifacts

(2010) Sandra Barth et al.   JOURNAL OF PATHOLOGY

Wnt signal transduction pathways

(2010) Yuko Komiya et al.   Organogenesis

Pressure Overload–Induced Alterations in Fibrillar Collagen Content and Myocardial Diastolic Function

(2009) Amy D. Bradshaw et al.   CIRCULATION

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex

(2009) Weizhong Chang et al.   HUMAN MOLECULAR GENETICS

Characterization of PEDF: A multi-functional serpin family protein

(2009) S. Filleur et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

miR-29 suppression of osteonectin in osteoblasts: Regulation during differentiation and by canonical Wnt signaling

(2009) Kristina Kapinas et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Autophagic Elimination of Misfolded Procollagen Aggregates in the Endoplasmic Reticulum as a Means of Cell Protection

(2009) Yoshihito Ishida et al.   MOLECULAR BIOLOGY OF THE CELL

Signalling mediated by the endoplasmic reticulum stress transducer OASIS is involved in bone formation

(2009) Tomohiko Murakami et al.   NATURE CELL BIOLOGY

Comprehensive classification of nucleotidyltransferase fold proteins: identification of novel families and their representatives in human

(2009) Krzysztof Kuchta et al.   NUCLEIC ACIDS RESEARCH

The Rough Endoplasmic Reticulum-resident FK506-binding Protein FKBP65 Is a Molecular Chaperone That Interacts with Collagens

(2008) Yoshihiro Ishikawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Bril: A Novel Bone-Specific Modulator of Mineralization

(2008) Pierre Moffatt et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

(2008) G. E. Oprea et al.   SCIENCE