THERAPY OF ENDOCRINE DISEASE: Treatment of osteogenesis imperfecta in adults

Evaluation of teriparatide treatment in adults with osteogenesis imperfecta

(2014) Eric S. Orwoll et al.   JOURNAL OF CLINICAL INVESTIGATION

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

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

Teriparatide Treatment in Adult Patients with Osteogenesis Imperfecta Type I

(2013) Davide Gatti et al.   CALCIFIED TISSUE INTERNATIONAL

Intravenous Pamidronate Treatment in Children with Moderate-to-Severe Osteogenesis Imperfecta Started under Three Years of Age

(2013) M.B. Alcausin et al.   Hormone Research in Paediatrics

Allele Dependent Silencing of Collagen Type I Using Small Interfering RNAs Targeting 3'UTR Indels - a Novel Therapeutic Approach in Osteogenesis Imperfecta

(2013) Katarina Lindahl et al.   International Journal of Medical Sciences

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by anIFITM5Mutation

(2013) Jay R Shapiro et al.   JOURNAL OF BONE AND MINERAL RESEARCH

New Genes in Bone Development: What's New in Osteogenesis Imperfecta

(2013) Joan C. Marini et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

(2013) Nick Bishop et al.   LANCET

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

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

Recessively Inherited Forms of Osteogenesis Imperfecta

(2012) Peter H. Byers et al.   Annual Review of Genetics

25 hydroxyvitamin D serum levels influence adequate response to bisphosphonate treatment in postmenopausal osteoporosis

(2012) Pilar Peris et al.   BONE

Induced Pluripotent Stem Cells: Past, Present, and Future

(2012) Shinya Yamanaka   Cell Stem Cell

Benefits and Risks of Bisphosphonate Therapy for Osteoporosis

(2012) Sundeep Khosla 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

In vivo genome editing using a high-efficiency TALEN system

(2012) Victoria M. Bedell et al.   NATURE

The 25(OH)D level needed to maintain a favorable bisphosphonate response is ≥33 ng/ml

(2012) A. S. Carmel et al.   OSTEOPOROSIS INTERNATIONAL

Changing pattern of femoral fractures in osteogenesis imperfecta with prolonged use of bisphosphonates

(2012) N. Nicolaou et al.   Journal of Childrens Orthopaedics

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

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

Zinc-Finger Nuclease Based Genome Surgery: Its All About Specificity

(2011) Eva-Maria Handel et al.   CURRENT GENE THERAPY

Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts

(2011) Gerd A. Müller et al.   FASEB JOURNAL

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

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

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

Mutations in SERPINF1 cause osteogenesis imperfecta type VI

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

Development of Allele-Specific Therapeutic siRNA for Keratin 5 Mutations in Epidermolysis Bullosa Simplex

(2011) Sarah D. Atkinson et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Potent and Selective Antisense Oligonucleotides Targeting Single-Nucleotide Polymorphisms in the Huntington Disease Gene / Allele-Specific Silencing of Mutant Huntingtin

(2011) Jeffrey B Carroll et al.   MOLECULAR THERAPY

Normal Collagen and Bone Production by Gene-targeted Human Osteogenesis Imperfecta iPSCs

(2011) David R Deyle et al.   MOLECULAR THERAPY

New perspectives on osteogenesis imperfecta

(2011) Antonella Forlino et al.   Nature Reviews Endocrinology

Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists

(2011) L. A. Bradbury et al.   OSTEOPOROSIS INTERNATIONAL

Efficient Allele-Specific Targeting of LRRK2 R1441 Mutations Mediated by RNAi

(2011) Laura de Yñigo-Mojado et al.   PLoS One

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

Bone Mineral Density and Fracture Rate in Response to Intravenous and Oral Bisphosphonates in Adult Osteogenesis Imperfecta

(2010) Jay R. Shapiro et al.   CALCIFIED TISSUE INTERNATIONAL

Osteogenesis imperfecta: a genetic, radiological, and epidemiological study

(2010) Poul Erik Andersen et al.   CLINICAL GENETICS

Birth prevalence rates of skeletal dysplasias

(2010) Claude Stoll et al.   CLINICAL GENETICS

Future Prospect of RNA Interference for Cancer Therapies

(2010) Eishi Ashihara et al.   CURRENT DRUG TARGETS

GH in combination with bisphosphonate treatment in osteogenesis imperfecta

(2010) Franco Antoniazzi et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

(2010) Brian P Kelley et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding

(2010) Aileen M. Barnes et al.   NEW ENGLAND JOURNAL OF MEDICINE

Efectos del tratamiento con ácido zoledrónico en pacientes adultos con osteogénesis imperfecta

(2010) Isabel Pavón de Paz et al.   Endocrinologia y Nutricion

PPIB Mutations Cause Severe Osteogenesis Imperfecta

(2009) Fleur S. van Dijk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

(2009) Joan C. Marini et al.   CELL AND TISSUE RESEARCH

Five siRNAs Targeting Three SNPs May Provide Therapy for Three-Quarters of Huntington's Disease Patients

(2009) Edith L. Pfister et al.   CURRENT BIOLOGY

Effects of bisphosphonates in children with osteogenesis imperfecta: an AACPDM systematic review

(2009) HEIDI CASTILLO et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference

(2009) Maria Stella Lombardi et al.   EXPERIMENTAL NEUROLOGY

Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model

(2009) Ethan Daley et al.   JOURNAL OF BONE AND MINERAL RESEARCH

CRTAPandLEPRE1mutations in recessive osteogenesis imperfecta

(2008) Dustin Baldridge et al.   HUMAN MUTATION

Defective C-propeptides of the Proα2(I) Chain of Type I Procollagen Impede Molecular Assembly and Result in Osteogenesis Imperfecta

(2008) James M. Pace et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical Review: Bisphosphonate Use in Childhood Osteoporosis

(2008) Laura K. Bachrach et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Tooth Extraction Socket Healing in Pediatric Patients Treated with Intravenous Pamidronate

(2008) Carol Chahine et al.   JOURNAL OF PEDIATRICS

Single-Nucleotide-Specific siRNA Targeting in a Dominant-Negative Skin Model

(2007) Robyn P. Hickerson et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Gene Targeting of Mutant COL1A2 Alleles in Mesenchymal Stem Cells From Individuals With Osteogenesis Imperfecta

(2007) Joel R Chamberlain et al.   MOLECULAR THERAPY