• A case report of malignant infantile osteopetrosis
• A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle
• A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases
• Ablation of Tak1 in osteoclast progenitor leads to defects in skeletal growth and bone remodeling in mice
• An alternative splicing variant in Clcn7-/- mice prevents osteopetrosis but not neural and retinal degeneration
• Antenatal diagnosis of lethal osteopetrosis
• Auditory ossicle abnormalities and hearing loss in the toothless (osteopetrotic) mutation in the rat and their improvement after treatment with colony-stimulating factor-1
• Autosomal dominant osteopetrosis: a presentation of 3 cases and a new gene mutation
• Bone marrow transplantation for genetic and metabolic disorders
• Bone marrow transplantation--an expanding approach to treatment of many diseases
• Bone surface structure in osteopetrotic grey lethal (gl/gl) and microphthalmic (mi/mi) mutant mice as revealed by scanning electron microscopy
• Bone-marrow transplantation for immunodeficiencies and osteopetrosis: European survey, 1968-1985
• Brain lipid composition in grey-lethal mutant mouse characterized by severe malignant osteopetrosis
• Chloroquine increases osteoclast activity in vitro but does not improve the osteopetrotic bone phenotype of ADO2 mice
• ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function
• Colony-stimulating factor 1-dependent resident macrophages play a regulatory role in fighting Escherichia coli fecal peritonitis
• Congenitally osteosclerotic (oc/oc) mice are resistant to cure by transplantation of bone marrow or spleen cells from normal littermates
• Congenitally osteosclerotic (os/os) rabbits are not cured by bone marrow transplantation from normal littermates
• Constitutional osteochondrodysplasias identifiable at birth. A short review on the state of the art in radiodiagnosis in the late 20th century
• Critical Roles of NF-κB Signaling Molecules in Bone Metabolism Revealed by Genetic Mutations in Osteopetrosis
• Early infantile malignant osteopetrosis. Experiences with drug therapy
• Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis
• Establishment and characterization of new osteoclast progenitor cell lines derived from osteopetrotic and wild type mice
• Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis
• Experimental therapies for osteopetrosis
• Expression pattern of the V5-Ostm1 protein in bacterial artificial chromosome transgenic mice
• First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome
• Fos metamorphoses: Lessons from mutants in model organisms
• Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models
• Genetic localization and transmission of the mouse osteopetrotic grey-lethal mutation
• Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human
• Hematological defects in the oc/oc mouse, a model of infantile malignant osteopetrosis
• Hematopoietic stem cell transplantation for infantile osteopetrosis
• High peripheral blood progenitor cell counts enable autologous backup before stem cell transplantation for malignant infantile osteopetrosis
• Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation
• Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family
• Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis
• Infantile malignant osteopetrosis: report of 2 cases with osteomyelitis of the jaws
• Isolation of a reticuloendotheliosis-like virus from naturally occurring lymphoreticular tumours of domestic goose
• Juvenile osteopetrosis: a case report
• Kindling the flame of integrin activation and function with kindlins
• Lentiviral gene transfer of TCIRG1 into peripheral blood CD34(+) cells restores osteoclast function in infantile malignant osteopetrosis
• Lethal osteopetrosis with multiple fractures in utero
• Malignant autosomal recessive osteopetrosis caused by spontaneous mutation of murine Rank
• Malignant Infantile Osteopetrosis
• Malignant Infantile osteopetrosis
• Massive osteopetrosis caused by non-functional osteoclasts in R51Q SNX10 mutant mice
• Maternal high calcium diet fails to reverse rickets in the osteosclerotic mouse
• Modified ES / OP9 co-culture protocol provides enhanced characterization of hematopoietic progeny
• 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
• Morphological evidence of reduced bone resorption in the osteosclerotic (oc) mouse
• Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement
• Myeloid Deletion of Nemo Causes Osteopetrosis in Mice Owing to Upregulation of Transcriptional Repressors
• Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients
• Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta
• Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1
• Osteopetro-rickets: a new congenital bone disorder
• Osteopetroses, emphasizing potential approaches to treatment
• Osteopetrosis and its relevance for the discovery of new functions associated with the skeleton
• Osteopetrosis associated with premature thymic involution in grey-lethal mice. In vitro studies of thymic microenvironment
• Osteopetrosis in South Africa. The benign, lethal and intermediate forms
• Osteopetrosis mutation R444L causes endoplasmic reticulum retention and misprocessing of vacuolar H+-ATPase a3 subunit
• Osteopetrosis: description of 2 cases, non-familial, of the fatal infantile form and of a case of the mild adult form. Impossibility of performing early prenatal diagnosis
• Osteopetrosis: Discovery and early history of "marble bone disease"
• Osteopetrosis. A morphological study of twenty-one cases
• Osteopetrotic (grey-lethal) bone produces collagenase and TIMP in organ culture: regulation by vitamin A
• Osteosclerosis, a recessive skeletal mutation on chromosome 19 in the mouse
• OSTM1 bone defect reveals an intercellular hematopoietic crosstalk
• Ostm1 from Mouse to Human: Insights into Osteoclast Maturation
• Outlining the Clinical Profile of <em>TCIRG1 14 Variants</em> including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families
• Physical and transcriptional map of the mouse Chromosome 10 proximal region syntenic to human 6q16-q21
• Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals
• Prenatal diagnosis of malignant osteopetrosis in Bedouin families by linkage analysis
• Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation
• Progressive skeletal defects caused by Kindlin3 deficiency, a model of autosomal recessive osteopetrosis in humans
• Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)
• Refined genomic localization of the genetic lesion in the osteopetrosis (op) rat and exclusion of three positional and functional candidate genes, Clcn7, Atp6v0c, and Slc9a3r2
• Regulation of mineral homeostasis in osteopetrotic (op) rats
• Relationship of abnormalities in dental and skeletal development in the osteopetrotic (os) rabbit
• Resolution and relapse of osteopetrosis in mice transplanted with myeloid tissue of variable histocompatibility
• Serum tumor marker CA 125 is an early and sensitive indicator of veno-occlusive disease in children undergoing bone marrow transplantation
• Severe malignant osteopetrosis caused by a GL gene mutation
• Skeletal resistance to 1,25-dihydroxyvitamin D3 in osteopetrotic rats
• Structure and function of V-ATPases in osteoclasts: potential therapeutic targets for the treatment of osteolysis
• Successful nonmyeloablative cord blood transplantation for an infant with malignant infantile osteopetrosis
• Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis
• Targeting NSG Mice Engrafting Cells with a Clinically Applicable Lentiviral Vector Corrects Osteoclasts in Infantile Malignant Osteopetrosis
• The Caenorhabditis elegans unc-32 gene encodes alternative forms of a vacuolar ATPase a subunit
• The clinical features of OSTM1-associated malignant infantile osteopetrosis: A retrospective, single-center experience over one decade
• The effect of chronic parathyroid extract on tooth eruption and dental tissues in osteopetrotic mice
• The effects of disorders of cartilage formation and bone resorption on bone shape: a study with chondrodystrophic and osteopetrotic mouse mutants
• The mouse osteopetrotic grey-lethal mutation induces a defect in osteoclast maturation/function
• The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes
• The orthopaedic implications of the sclerosing bone dysplasias
• The osteopetrotic rabbit: general and skeletal features of a new outbred stock
• The osteopetrotic rabbit: skeletal cytology and ultrastructure
• Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions
• Type II autosomal dominant osteopetrosis
• Vacuolar ATPase as a drug discovery target
• X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling