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    3206 results match your criteria Osteopetrosis

    1 OF 65

    Effects of hypothalamic leptin gene therapy on osteopetrosis in leptin-deficient mice.
    J Endocrinol 2017 Nov 30. Epub 2017 Nov 30.
    U Iwaniec, Skeletal Biology Laboratory, Oregon State University, Corvallis, 97331, United States
    Impaired resorption of cartilage matrix deposited during endochondral ossification is a defining feature of juvenile osteopetrosis. Growing, leptin-deficient ob/ob mice exhibit a mild form of osteopetrosis. However, the extent to which the disease is (1) self-limiting and (2) reversible by leptin treatment is unknown. Read More

    Dealing with sub-trochanteric fracture in a child with osteopetrosis : A case report.
    Acta Orthop Belg 2016 Dec;82(4):907-912
    Osteopetrosis is a rare hereditary condition which may have autosomal recessive or autosomal dominant inheritance. Patients tend to present most commonly with fractures but involvement of cranial nerves and hematopoetic system is not uncommon. Patients with infantile and intermediate type tend to present more often with problems other than orthopaedic problems. Read More

    Monocyte-specific knockout of C/ebpα results in osteopetrosis phenotype, blocks bone loss in ovariectomized mice and reveals an important function of C/ebpα in osteoclast differentiation and function.
    J Bone Miner Res 2017 Nov 17. Epub 2017 Nov 17.
    Department of Pathology, University of Alabama, Birmingham, AL 35294.
    CCAAT/enhancer-binding protein α (C/ebpα) is critical for osteoclastogenesis by regulating osteoclast (OC) lineage commitment and is also important for OC differentiation and function in vitro. However, the role of C/ebpα in postnatal skeletal development has not been reported owing to lethality in C/ebpα-/- mice from hypoglycemia within 8 hours after birth. Herein, we generated conditional knockout mice by deleting the C/ebpα gene in monocyte via LysM-Cre to examine its role in OC differentiation and function. Read More

    Human-Aided Movement of Viral Disease and the Archaeology of Avian Osteopetrosis.
    Int J Osteoarchaeol 2017 Sep-Oct;27(5):853-866. Epub 2017 Jun 30.
    School of Archaeology and Ancient HistoryUniversity of LeicesterLeicesterUK.
    The term avian osteopetrosis is used to describe alterations to the skeletal elements of several species of domestic bird, most typically the chicken, Gallus gallus domesticus (L. 1758). Such lesions are routinely identified in animal bones from archaeological sites due to their distinctive appearance, which is characterised by proliferative diaphyseal thickening. Read More

    Osteoblast-Derived Extracellular Vesicles Are Biological Tools for the Delivery of Active Molecules to Bone.
    J Bone Miner Res 2017 Nov 1. Epub 2017 Nov 1.
    Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.
    Extracellular vesicles (EVs) are newly appreciated regulators of tissue homeostasis and a means of intercellular communication. Reports have investigated the role of EVs and their cargoes in cellular regulation and have tried to fine-tune their biotechnological use, but to date very little is known on their function in bone biology. To investigate the relevance of EV-mediated communication between bone cells, we isolated EVs from primary mouse osteoblasts and assessed membrane integrity, size, and structure by transmission electron microscopy (TEM) and fluorescence-activated cell sorting (FACS). Read More

    A Novel Mutation in SNX10 Gene Causes Malignant Infantile Osteopetrosis.
    Avicenna J Med Biotechnol 2017 Oct-Dec;9(4):205-208
    Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
    Background: Osteopetrosis is a group of genetically heterogonous diseases and the main feature of that is increased bone density due to osteoclast's abnormality. It has three clinical forms based on inheritance pattern, severity and age of onset: the dominant benign form (ADO), the intermediate form (IRO) and the recessive severe form (ARO). One of the recently discovered genes for ARO form is SNX10 that accounts for 4% of affected persons by this type. Read More

    C/ebpα controls osteoclast terminal differentiation, activation, function, and postnatal bone homeostasis through direct regulation of Nfatc1.
    J Pathol 2017 Oct 30. Epub 2017 Oct 30.
    Department of Pathology, University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, 35294-2182, United States of America.
    Osteoclast lineage commitment and differentiation have been studied extensively, although the mechanism by which transcription factor(s) control osteoclast terminal differentiation, activation and function remains unclear. CCAAT/enhancer-binding protein α (C/ebpα) has been reported to be a key regulator of osteoclast cell lineage commitment, yet C/ebpα's roles in osteoclast terminal differentiation, activation and function and bone homeostasis, under physiological or pathological conditions, have not been studied because newborn C/ebpα null mice die within several hours after birth. Furthermore, the function of C/ebpα in osteoclast terminal differentiation, activation and function are largely unknown. Read More

    A ERK/RSK-mediated negative feedback loop regulates M-CSF-evoked PI3K/AKT activation in macrophages.
    FASEB J 2017 Oct 18. Epub 2017 Oct 18.
    Department of Orthopaedics, Brown University Alpert Medical School, Rhode Island Hospital, Providence, Rhode Island, USA;
    Activation of the RAS/ERK and its downstream signaling components is essential for growth factor-induced cell survival, proliferation, and differentiation. The Src homology-2 domain containing protein tyrosine phosphatase 2 (SHP2), encoded by protein tyrosine phosphatase, non-receptor type 11 (Ptpn11), is a positive mediator required for most, if not all, receptor tyrosine kinase-evoked RAS/ERK activation, but differentially regulates the PI3K/AKT signaling cascade in various cellular contexts. The precise mechanisms underlying the differential effects of SHP2 deficiency on the PI3K pathway remain unclear. Read More

    Generation of induced pluripotent stem cells (ARO-iPSC1-11) from a patient with autosomal recessive osteopetrosis harboring the c.212+1G>T mutation in SNX10 gene.
    Stem Cell Res 2017 Oct 24;24:51-54. Epub 2017 Jul 24.
    Regenerative Medicine Institute, National University of Ireland Galway, Galway, Ireland. Electronic address:
    Pathogenic sequence variants in the Sorting Nexin 10 (SNX10) gene have been associated with autosomal recessive osteopetrosis (ARO) in human. In this study, an induced pluripotent stem cell (iPSC) line (ARO-iPSC1-11) was generated from an ARO patient carrying the homozygous c.212+1G>T mutation in SNX10, using a retroviral-based reprogramming protocol. Read More

    Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II).
    Calcif Tissue Int 2017 Oct 10. Epub 2017 Oct 10.
    Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Lottestr. 59, 22529, Hamburg, Germany.
    The main hallmark of high bone mass (HBM) disorders is increased bone mineral density, potentially visible in conventional radiographs and quantifiable by other radiographic methods. While one of the most common forms of HBM is CLCN7-related autosomal dominant osteopetrosis type II (ADO II), there is no consensus on diagnostic thresholds. We therefore wanted to assess whether CLCN7-osteopetrosis patients differ from benign HBM cases in terms of (1) bone mineral density, (2) bone structure, and (3) microarchitectural abnormalities. Read More

    IFN-γ alters the expression of diverse immunity related genes in a cell culture model designed to represent maturing neutrophils.
    PLoS One 2017 5;12(10):e0185956. Epub 2017 Oct 5.
    Department of Pediatrics, University of Colorado Denver, The Anschutz Medical Campus, Aurora, Colorado, United States of America.
    The cytokine interferon-γ (IFN-γ) is approved as a drug to treat chronic granulomatous disease (CGD) and osteopetrosis and is also used in hyperimmunoglobulin E syndromes. Patients with CGD have defects in proteins of the NOX2 NADPH oxidase system. This leads to reduced production of microbicidal ROS by PMNs and recurrent life threatening infections. Read More

    [Morphological characteristics of osteopetrosis].
    Pathologe 2017 Oct 4. Epub 2017 Oct 4.
    Institut für Osteologie und Biomechanik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Deutschland.
    Osteopetrosis is a rare inherited bone disorder characterized by increased bone density owing to failure in bone resorption by the osteoclasts. The disease is genetically and histologically heterogeneous with a wide spectrum of microscopic findings. The histology varies from cases with a total absence of osteoclasts to bone biopsies characterized by high numbers of enlarged multinucleated osteoclasts on a background of sclerotic cancellous bone with or without additional defect of mineralization of the bone matrix. Read More

    Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families.
    Postgrad Med 2017 Nov 11;129(8):934-942. Epub 2017 Oct 11.
    a Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Disease , Shanghai Jiao Tong University Affiliated Sixth People's Hospital , Shanghai , China.
    Objectives: Defects in the chloride channel 7 (CLCN7) gene lead to autosomal dominant osteopetrosis type II (ADOII, OPTA2 MIM 166600) and autosomal recessive osteopetrosis, autosomal recessive 4 (ARO, OPTB4 MIM 611490). The objective of the present study was to expand the mutational spectrum and analyze the correlation between mutational sites and clinical phenotypes.

    Methods: Seven affected individuals from unrelated Chinese families were clinically examined. Read More

    Clcn7F318L/+ as a new mouse model of Albers-Schönberg disease.
    Bone 2017 Dec 20;105:253-261. Epub 2017 Sep 20.
    Orthopaedic Research Laboratories, Boston Children's Hospital, Boston, MA, USA; Department of Genetics, Harvard Medical School, Boston, MA, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA. Electronic address:
    Dominant negative mutations in CLCN7, which encodes a homodimeric chloride channel needed for matrix acidification by osteoclasts, cause Albers-Schönberg disease (also known as autosomal dominant osteopetrosis type 2). More than 25 different CLCN7 mutations have been identified in patients affected with Albers-Schönberg disease, but only one mutation (Clcn7G213R) has been introduced in mice to create an animal model of this disease. Here we describe a mouse with a different osteopetrosis-causing mutation (Clcn7F318L). Read More

    Anesthesia Management of a Child with Osteopetrosis.
    Anesth Essays Res 2017 Jul-Sep;11(3):797-801
    Anesthesiology, Critical Care and Pain Management Research Center, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.
    Osteopetrosis is a rare genetic disorder of osteoclast dysfunction leading to anatomical and physiological disorders. We present the anesthesia management for the femur fracture of a 4-year-old girl with malignant infantile type of osteopetrosis. She had a ventriculoperitoneal shunt, impaired motion, visual disturbance, growth failure, facial deformity, heart murmur of moderate tricuspid regurgitation, and left ventricular heart failure, with splenomegaly and severe anemia. Read More

    Decompressive Cranioplasty in a Patient with Osteopetrosis.
    World Neurosurg 2017 Dec 1;108:991.e1-991.e5. Epub 2017 Sep 1.
    King Khalid University Hospital, King Saud University, Saudi Arabia; Department of Neurosurgery, Stanford University, Stanford, California, USA. Electronic address:
    Background: Osteopetrosis is a heterogeneous group of uncommon congenital disorders that causes bony sclerosis and remodeling. Patients who are symptomatic can show significant neurologic consequences with the involvement of cranial nerves and symptoms of increased intracranial pressure (ICP).

    Case Description: We report an unusual case of a 26-year-old woman with an autosomal-dominant type of osteopetrosis who presented with headache and severe visual deterioration, both attributed to increased ICP. Read More

    Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis.
    Hum Genome Var 2017 17;4:17036. Epub 2017 Aug 17.
    Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
    Osteopetrosis is a heritable disorder of the skeleton that is characterized by increased bone density on radiographs caused by defects in osteoclast formation and function. Mutations in >10 genes are identified as causative for this clinically and genetically heterogeneous disease in humans. We report two novel missense variations in a compound heterozygous state in the CLCN7 gene, detected through targeted exome sequencing, in a 15-year-old Japanese female with intermediate autosomal recessive osteopetrosis. Read More

    Successful open reduction and internal fixation for displaced femoral fracture in a patient with osteopetrosis: Case report and lessons learned.
    Medicine (Baltimore) 2017 Aug;96(33):e7777
    Department of Orthopaedics, Guangdong Provincial Hospital of Chinese Medicine, The Second Clinical Medical College of Guangzhou University of Chinese Medicine, Guangzhou, People's Republic of China.
    Rationale: Osteopetrosis is a rare disease that predominantly occurs in descendants of inbreeding families. In the case of fractures happen in patients with osteopetrosis, the choice between operative or conservative treatment is still controversial. Open reduction and internal fixation (ORIF) is a conventional treatment for fractures, and it possesses more applicability than conservative treatment. Read More

    Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families.
    Acta Pharmacol Sin 2017 Nov 17;38(11):1456-1465. Epub 2017 Aug 17.
    Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.
    Human autosomal recessive osteopetrosis (ARO), also known as infantile malignant osteopetrosis, is a rare genetic bone disorder that often causes death. Mutations in T-cell immune regulator 1 (TCIRG1) are a frequent cause of human ARO. Six additional genes (TNFSF11, TNFRSF11A, CLCN7, OSTM1, SNX10, PLEKHM1) were also found to be associated with human ARO. Read More

    Case update on cranial osteopetrosis: which is the role of the neurosurgeon?
    Childs Nerv Syst 2017 Dec 31;33(12):2181-2186. Epub 2017 Jul 31.
    Departement of Neuro-ophtalmology, Lille University Hospital, Lille, France.
    Purpose: Osteopetrosis (OP) is a rare skeletal disease, which can affect the skull base and calvaria. A multidisciplinary approach is mandatory and patient may need neurosurgical care. Few observations have been published, and optimal management of OP is not established yet. Read More

    Numb chin with mandibular pain or masticatory weakness as indicator for systemic malignancy - A case series study.
    J Formos Med Assoc 2017 Nov 17;116(11):897-906. Epub 2017 Jul 17.
    Department of Hemato-Oncology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan.
    Background/purpose: Numb chin syndrome (NCS) is a critical sign of systemic malignancy; however it remains largely unknown by clinicians and dentists. The aim of this study was to investigate NCS that is more often associated with metastatic cancers than with benign diseases.

    Methods: Sixteen patients with NCS were diagnosed and treated. Read More

    Targeting NSG Mice Engrafting Cells with a Clinically Applicable Lentiviral Vector Corrects Osteoclasts in Infantile Malignant Osteopetrosis.
    Hum Gene Ther 2017 Oct 3. Epub 2017 Oct 3.
    1 Department of Molecular Medicine and Gene Therapy, Lund Strategic Center for Stem Cell Biology, Lund University , Lund, Sweden.
    Infantile malignant osteopetrosis (IMO) is a rare, lethal, autosomal recessive disorder characterized by nonfunctional osteoclasts. More than 50% of the patients have mutations in the TCIRG1 gene, encoding for a subunit of the osteoclast proton pump. The aim of this study was to develop a clinically applicable lentiviral vector expressing TCIRG1 to correct osteoclast function in IMO. Read More

    Malignant Infantile Osteopetrosis.
    J Ayub Med Coll Abbottabad 2017 Apr-Jun;29(2):350-352
    Department of Paediatrics and Neonatology, Ayub Medical College Abbottabad, Pakistan.
    Two main forms of osteopetrosis are recognized, a severe autosomal recessive form (MIM 259700) with an incidence of approximately 1 in 250,000 births and a mild autosomal dominant form (MIM166600) with an incidence of 1 in 20,000 births. Intrinsic disturbances of osteoclastic function due to mutations in genes encoding osteoclast-specific subunits of the vacuolar proton pump (TCIRG1, CLCN7) are found in most patients with recessive form. Mutations of CLCN7 are observed in dominant form of osteopetrosis . Read More

    Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group.
    J Clin Endocrinol Metab 2017 Sep;102(9):3111-3123
    Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, California 90502.
    Background: Osteopetrosis encompasses a group of rare metabolic bone diseases characterized by impaired osteoclast activity or development, resulting in high bone mineral density. Existing guidelines focus on treatment of the severe infantile forms with hematopoietic cell transplantation (HCT) but do not address the management of patients with less severe forms for whom HCT is not the standard of care. Therefore, our objective was to develop expert consensus guidelines for the management of these patients. Read More

    Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.
    Eur J Hum Genet 2017 Sep 14;25(9):1092-1095. Epub 2017 Jun 14.
    Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Heinrich Heine University, Düsseldorf, Germany.
    Coexistence of different hereditary diseases is a known phenomenon in populations with a high consanguinity rate. The resulting clinical phenotypes are extremely challenging for physicians involved in the care of these patients. Here we describe a 6-year-old boy with co-occurrence of a homozygous splice defect in OSTM1, causing infantile malignant osteopetrosis, and a loss-of-function variant in MANEAL, which has not been associated with human disease so far. Read More

    [Analysis of TCIRG1 gene mutation in a Chinese family affected with infantile malignant osteopetrosis].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Jun;34(3):377-381
    Department of Hematology, Anhui Provincial Children's Hospital, Hefei, Anhui 230001, China.
    Objective: To detect potential mutation of the TCIRG1 gene in a boy with infantile malignant osteopetrosis.

    Methods: Target sequence capture and next-generation sequencing were applied for the proband and his parents to identify the causative mutation, and Sanger sequencing was used to verify the suspected mutation.

    Results: The proband manifested at 4 months of age with symptoms including anemia, thrombocytopenia, hepatosplenomegaly, and cephalus quadratus. Read More

    Guided growth for valgus deformity correction of knees in a girl with osteopetrosis: a case report.
    Strategies Trauma Limb Reconstr 2017 Nov 7;12(3):197-204. Epub 2017 Jun 7.
    Russian Ilizarov Scientific Center for Restorative Traumatology and Orthopaedics, 6, M.Ulyanova Street, Kurgan, Russian Federation, 640014.
    Autosomal dominant osteopetrosis (Albers-Schönberg disease) classically displays the radiographic signs of osteosclerosis. The main ADO complications involve the skeleton: low-impact bone fractures, scoliosis and hip osteoarthritis. Management of osteopetrosis-related orthopedic problems is a surgical challenge due to increased bone density. Read More

    SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.
    Sci Rep 2017 Jun 7;7(1):3012. Epub 2017 Jun 7.
    Centre for Bone and Arthritis Research, Department of internal medicine and clinical nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, 405 30, Gothenburg, Sweden.
    Autosomal recessive osteopetrosis (ARO) is a heterogeneous disorder, characterized by defective osteoclastic resorption of bone that results in increased bone density. We have studied nine individuals with an intermediate form of ARO, from the county of Västerbotten in Northern Sweden. All afflicted individuals had an onset in early infancy with optic atrophy, and in four patients anemia was present at diagnosis. Read More

    mTOR Inhibition Subdues Milk Disorder Caused by Maternal VLDLR Loss.
    Cell Rep 2017 Jun;19(10):2014-2025
    Department of Pharmacology, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address:
    It is unknown whether and how very-low density lipoprotein receptors (VLDLRs) impact skeletal homeostasis. Here, we report that maternal and offspring VLDLRs play opposite roles in osteoclastogenesis and bone resorption. VLDLR deletion in the offspring augments osteoclast differentiation by enhancing RANKL signaling, leading to osteoporosis. Read More

    Serum CTX levels and histomorphometric analysis in Src versus RANKL knockout mice.
    J Bone Miner Metab 2017 Jun 6. Epub 2017 Jun 6.
    Department of Bone and Joint Disease, National Center for Geriatrics and Gerontology, 7-430 Morioka, Obu, Aichi, 474-8511, Japan.
    Src knockout (KO) and RANKL KO mice both exhibit near complete osteopetrosis in terms of 3D-bone volume (BV) fraction by micro-CT, whereas the serum CTX concentration of Src KO is apparently normal and that of RANKL KO is 30% of wild-type (WT) despite the fact that they lack osteoclasts. By histomorphometry we found that, whereas eroded surface (ES) and osteoid surface (OS) are zero values in RANKL KO, they are indistinguishable from WT in Src KO; because of marked increase in bone surface (BS), ES/BS and OS/BS of Src KO are 30-40% of WT. While RANKL KO lack both osteoclasts and osteoblasts, Src KO reveal increased numbers of osteoclasts and indistinguishable numbers of osteoblasts compared with WT; again, on the basis of BS, N. Read More

    Case report: A 10 years follow-up of periprosthetic femoral fracture after total hip arthroplasty in osteopetrosis.
    Chin J Traumatol 2017 Jun 10;20(3):173-176. Epub 2017 May 10.
    Department of Orthopaedic Surgery, The Second Affiliated Hospital Zhejiang University School of Medicine, Hangzhou, 310009, China.
    Osteopetrosis is an inherited disorder characterized by increased bone density and brittle bone quality. Degenerative changes often occur after the age of 40 in patients with osteopetrosis. Operative intervention is the primary treatment option if the clinical manifestation of secondary osteoarthritis is severe. Read More

    Carbonic anhydrase II deficiency: report of a novel mutation.
    CEN Case Rep 2016 May 8;5(1):108-112. Epub 2015 Dec 8.
    Department of Medicine (38), College of Medicine, King Saud University, P.O. Box 2925, Riyadh, 11461, Kingdom of Saudi Arabia.
    Carbonic anhydrase II (CAII) deficiency is an autosomal recessive disorder characterized by renal tubular acidosis, osteopetrosis, recurrent bone fractures, renal stones, growth failure, and mental retardation. Several cases have been reported in Saudi Arabia with homozygous mutations in CA2 consistent with a high degree of consanguinity. We report a case of carbonic anhydrase II deficiency with short stature, mixed renal tubular acidosis, recurrent bone fractures due to trivial trauma, recurrent renal stones and cerebral calcification. Read More

    Periodontal profile and radiographic characterization of the jaws in a patient with autosomal dominant osteopetrosis.
    Endocrinol Diabetes Metab Case Rep 2017 21;2017. Epub 2017 Apr 21.
    Department of Internal Medicine and Endocrine Section, Medical School and Hospital Universitário Clementino Fraga Filho, Federal University of Rio de Janeiro, Rio de JaneiroBrazil.
    Osteopetrosis (OP) comprehends a rare group of conditions, presenting on radiographs increased bone density, deriving from irregularities in osteoclast differentiation or function. In the autosomal dominant osteopetrosis (ADO), some patients stay asymptomatic for some time, or only develop mild symptoms. The dental surgeon is often the first to presuppose the disease during routine imaging examinations, referring the patient to a specialized medical group. Read More

    Genetic disorders in beef cattle: a review.
    Genes Genomics 2017 3;39(5):461-471. Epub 2017 Mar 3.
    Department of Animal Improvement, Institute of Genetics and Animal Breeding, Polish Academy of Sciences, Postępu 36A, Jastrzębiec, 05-552 Magdalenka, Poland.
    The main purpose of present review is to describe and organize autosomal recessive disorders (arachnomelia, syndactylism, osteopetrosis, dwarfism, crooked tail syndrome, muscular hyperplasia, glycogen storage disease, protoporphyria), which occur among beef cattle, and methods that can be applied to detect these defects. Prevalence of adverse alleles in beef breeds happens due to human activity-selections of favorable features, e.g. Read More

    Use of an Industrial Tungsten Carbide Drill in the Treatment of a Complex Fracture in a Patient with Severe Osteopetrosis: A Case Report.
    Malays Orthop J 2017 Mar;11(1):64-67
    Department of Orthopaedics, Tan Tock Seng Hospital, Singapore.
    The treatment of fractures in osteopetrosis can be complicated and difficult. We describe the use of an industrial grade tungsten carbide drill bit in the treatment of one of these complex fractures. An industrial grade tungsten carbide drill bit was used to fashion a medullary canal in the surgical treatment of a left peri-implant fracture of the neck of femur in a patient with osteopetrosis. Read More

    Disabling Osteopetrosis in an Young Lady.
    J Assoc Physicians India 2016 Dec;64(12):92-94
    Assistant Professor, Dept. of Medicine, Midnapore Medical College, Midnapore, West Bengal.
    Osteopetrosis is a rare disorder of osteoclastic bone resorption leading to hyperostosis. Albers-Schonberg disease, an autosomal dominant variant of osteopetrosis occurs in young adults and has a benign course. A 17 year old female presented with generalized weakness and pallor for last two months. Read More

    Traumatic multiple cervical spine injuries in a patient with osteopetrosis and its management.
    Eur Spine J 2017 May 9;26(Suppl 1):229-235. Epub 2017 Apr 9.
    Spine Fellow, Lilavati Hospital and Research Centre, Bandra reclamation, Bandra west, Mumbai, Maharashtra, 400050, India.
    Study Design: Single case report.

    Objective/purpose: To report multiple level fractures of cervical spine in a patient with osteopetrosis and its management. Osteopetrosis is a rare inherited condition characterized by defective remodeling resulting in hard and brittle bones with diffuse osteosclerosis. Read More

    ClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies.
    Front Pharmacol 2017 23;8:151. Epub 2017 Mar 23.
    Department of Physiology and Biophysics, Dalhousie University, Halifax NS, Canada.
    The discovery of ClC proteins at the beginning of the 1990s was important for the development of the Cl- transport research field. ClCs form a large family of proteins that mediate voltage-dependent transport of Cl- ions across cell membranes. They are expressed in both plasma and intracellular membranes of cells from almost all living organisms. Read More

    Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.
    Genet Med 2017 Oct 6;19(10):1144-1150. Epub 2017 Apr 6.
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
    Purpose: The purpose of this study is to describe recessive alleles in strictly dominant genes. Identifying recessive mutations in genes for which only dominant disease or risk alleles have been reported can expand our understanding of the medical relevance of these genes both phenotypically and mechanistically. The Saudi population is enriched for autozygosity, which enhances the homozygous occurrence of alleles, including pathogenic alleles in genes that have been associated only with a dominant inheritance pattern. Read More

    Role and mechanism of action of leucine-rich repeat kinase 1 in bone.
    Bone Res 2017 14;5:17003. Epub 2017 Mar 14.
    Musculoskeletal Disease Center, Jerry L. Pettis Memorial VA Medical Center, Loma Linda, CA, USA; Department of Medicine, Loma Linda University, Loma Linda, CA, USA.
    Leucine-rich repeat kinase 1 (LRRK1) plays a critical role in regulating cytoskeletal organization, osteoclast activity, and bone resorption with little effect on bone formation parameters. Deficiency of Lrrk1 in mice causes a severe osteopetrosis in the metaphysis of the long bones and vertebrae bones, which makes LRRK1 an attractive alternative drug target for the treatment of osteoporosis and other high-turnover bone diseases. This review summarizes recent advances on the functions of the Lrrk1-related family members, Lrrk1 deficiency-induced skeletal phenotypes, LRRK1 structure-function, potential biological substrates and interacting proteins, and the mechanisms of LRRK1 action in osteoclasts. Read More

    V-ATPases Containing a3 Subunit Play a Direct Role in Enamel Development in Mice.
    J Cell Biochem 2017 Oct 3;118(10):3328-3340. Epub 2017 May 3.
    Faculty of Dentistry, Dental Research Institute, University of Toronto, Toronto, Ontario, Canada.
    Vacuolar H+ -ATPases (V-ATPases) are ubiquitous multisubunit proton pumps responsible for organellar pH maintenance. Mutations in the a3 subunit of V-ATPases cause autosomal recessive osteopetrosis, a rare disease due to impaired bone resorption. Patients with osteopetrosis also display dental anomalies, such as enamel defects; however, it is not clear whether these enamel abnormalities are a direct consequence of the a3 mutations. Read More

    Case Report of Clinical Vignette: Osteopetrosis.
    Mil Med 2017 Mar;182(3):e1886-e1888
    Division of Endocrinology, Department of Medicine, Naval Medical Center San Diego, 34800 Bob Wilson Drive, San Diego, CA 92134-3300.
    Introduction: Osteopetrosis is a connective tissue disorder resulting from abnormally dense bone predisposing patients to fracture. The clinical pattern of fractures across time and space as well as suggestive radiographic findings usually raises diagnostic suspicion. Multiple genetic mutations resulting in dysfunctional osteoclasts have been implicated in the pathogenesis of osteopetrosis with variable inheritance patterns. Read More

    Immunoregulatory properties of the cytokine IL-34.
    Cell Mol Life Sci 2017 Jul 3;74(14):2569-2586. Epub 2017 Mar 3.
    INSERM UMR1064, Center for Research in Transplantation and Immunology-ITUN, Université de Nantes, 30 Bd. Jean Monnet, 44093, Nantes Cedex 01, France.
    Interleukin-34 is a cytokine with only partially understood functions, described for the first time in 2008. Although IL-34 shares very little homology with CSF-1 (CSF1, M-CSF), they share a common receptor CSF-1R (CSF-1R) and IL-34 has also two distinct receptors (PTP-ζ) and CD138 (syndecan-1). To make the situation more complex, IL-34 has also been shown as pairing with CSF-1 to form a heterodimer. Read More

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