Genetics of Osteopetrosis

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities

(2017) Diran Herebian et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cathepsin K Controls Cortical Bone Formation by Degrading Periostin

(2017) Nicolas Bonnet et al.   JOURNAL OF BONE AND MINERAL RESEARCH

The Rab7 effector PLEKHM1 binds Arl8b to promote cargo traffic to lysosomes

(2017) Rituraj Marwaha et al.   JOURNAL OF CELL BIOLOGY

SNX10 Plays a Critical Role in MMP9 Secretion via JNK-p38-ERK Signaling Pathway

(2017) Chun Zhou et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group

(2017) Calvin C Wu et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes

(2017) Hyung Keun Song et al.   MEDICINE

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

(2017) Maojia Xu et al.   Stem Cell Research

Murine Rankl−/− Mesenchymal Stromal Cells Display an Osteogenic Differentiation Defect Improved by a RANKL-Expressing Lentiviral Vector

(2017) Francesca Schena et al.   STEM CELLS

Role and mechanism of action of leucine-rich repeat kinase 1 in bone

(2017) Weirong R Xing et al.   Bone Research

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts

(2017) Eva-Lena Stattin et al.   Scientific Reports

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness

(2016) Aman George et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to aCLCN7mutation

(2016) Sian E. Piret et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ostéopétrose maligne infantile : à propos d’un cas chez un nourrisson de 5 mois

(2016) J. Ledemazel et al.   ARCHIVES DE PEDIATRIE

Outcomes after Unrelated Umbilical Cord Blood Transplantation for Children with Osteopetrosis

(2016) Robert Chiesa et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Haploidentical transplantation with post-transplant cyclophosphamide following reduced-intensity conditioning for osteopetrosis: outcomes in three children

(2016) T L Bahr et al.   BONE MARROW TRANSPLANTATION

Pycnodysostosis

(2016) Kausik Mandal et al.   CLINICAL DYSMORPHOLOGY

The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis

(2016) O. Shamriz et al.   CLINICAL GENETICS

A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient

(2016) Binghui Zeng et al.   GENE

Orthopaedic disorders of pycnodysostosis: a report of five clinical cases

(2016) Pilar Rovira Martí et al.   INTERNATIONAL ORTHOPAEDICS

Characterization of a Relatively Malignant Form of Osteopetrosis Caused by a Novel Mutation in thePLEKHM1Gene

(2016) Tao Bo et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis

(2016) Eleonora Palagano et al.   JOURNAL OF BONE AND MINERAL RESEARCH

The kindlin family: functions, signaling properties and implications for human disease

(2016) Emanuel Rognoni et al.   JOURNAL OF CELL SCIENCE

Identification of biallelicLRRK1mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity

(2016) Aritoshi Iida et al.   JOURNAL OF MEDICAL GENETICS

Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2

(2016) Hao Deng et al.   Molecular Pain

LGR4 is a receptor for RANKL and negatively regulates osteoclast differentiation and bone resorption

(2016) Jian Luo et al.   NATURE MEDICINE

Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds

(2016) Natalia Simanovsky et al.   PEDIATRIC BLOOD & CANCER

Hematopoietic stem cell transplantation for infantile osteopetrosis

(2015) P. J. Orchard et al.   BLOOD

Partial depletion of TCR alpha/beta+/ CD19+ cells in matched unrelated transplantation of three patients with osteopetrosis

(2015) F Porta et al.   BONE MARROW TRANSPLANTATION

A Mutation in CTSK Gene in an Autosomal Recessive Pycnodysostosis Family of Chinese Origin

(2015) Xianglan Huang et al.   CALCIFIED TISSUE INTERNATIONAL

Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II)

(2015) Hui Zheng et al.   JOURNAL OF BONE AND MINERAL METABOLISM

Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser)RELA(Rela/p65)

(2015) Anja L Frederiksen et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis

(2015) Eleonora Palagano et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations

(2015) Y. Xue et al.   JOURNAL OF DENTAL RESEARCH

Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families

(2015) Qianqian Pang et al.   METABOLIC BRAIN DISEASE

Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking

(2015) Subramanya N. M. Pandruvada et al.   MOLECULAR AND CELLULAR BIOLOGY

PLEKHM1 Regulates Autophagosome-Lysosome Fusion through HOPS Complex and LC3/GABARAP Proteins

(2015) David G. McEwan et al.   MOLECULAR CELL

Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients

(2015) Q. Pang et al.   OSTEOPOROSIS INTERNATIONAL

Improved Outcomes of Hematopoietic Stem Cell Transplantation in Patients With Infantile Malignant Osteopetrosis Using Fludarabine-Based Conditioning

(2015) Juma Natsheh et al.   PEDIATRIC BLOOD & CANCER

A new mutation in theKINDLIN-3gene ablates integrin-dependent leukocyte, platelet, and osteoclast function in a patient with leukocyte adhesion deficiency-III

(2015) Roman Crazzolara et al.   PEDIATRIC BLOOD & CANCER

Incomplete splicing of neutrophil-specific genes affects neutrophil development in a zebrafish model of poikiloderma with neutropenia

(2015) Prakash Patil et al.   RNA Biology

A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor

(2015) Elisa A. Colombo et al.   Scientific Reports

Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Osteopetrosis of Infancy

(2015) Korcan Demir et al.   Journal of Clinical Research in Pediatric Endocrinology

Receptor activator of nuclear factor-κB ligand (RANKL)/RANK/osteoprotegerin system in bone and other tissues (Review)

(2015) WEI LIU et al.   Molecular Medicine Reports

TRAFD1 (FLN29) Interacts with Plekhm1 and Regulates Osteoclast Acidification and Resorption

(2015) Hanna Witwicka et al.   PLoS One

Mitf regulates osteoclastogenesis by modulating NFATc1 activity

(2014) Ssu-Yi Lu et al.   EXPERIMENTAL CELL RESEARCH

The Challenge for the Next Generation of Medical Geneticists

(2014) Thierry Frebourg   HUMAN MUTATION

Novel Mutation and White Matter Involvement in an Indian Child with Pycnodysostosis

(2014) Ankur Singh et al.   INDIAN JOURNAL OF PEDIATRICS

Secretion of a Truncated Osteopetrosis-associated Transmembrane Protein 1 (OSTM1) Mutant Inhibits Osteoclastogenesis through Down-regulation of the B Lymphocyte-induced Maturation Protein 1 (BLIMP1)-Nuclear Factor of Activated T Cells c1 (NFATc1) Axis

(2014) Bongjin Shin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cathepsin K: a unique collagenolytic cysteine peptidase

(2013) Marko Novinec et al.   BIOLOGICAL CHEMISTRY

Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1

(2013) Claus-Eric Ott et al.   BONE

RANKL Cytokine: From Pioneer of the Osteoimmunology Era to Cure for a Rare Disease

(2013) Nadia Lo Iacono et al.   Clinical & Developmental Immunology

Genetics in Endocrinology: Autosomal dominant osteopetrosis revisited: lessons from recent studies

(2013) Jens Bollerslev et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Common Gating of Both CLC Transporter Subunits Underlies Voltage-dependent Activation of the 2Cl−/1H+Exchanger ClC-7/Ostm1

(2013) Carmen F. Ludwig et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Osteopetrosis: genetics, treatment and new insights into osteoclast function

(2013) Cristina Sobacchi et al.   Nature Reviews Endocrinology

Hypohidrotic Ectodermal Dysplasia, Osteopetrosis, Lymphedema, and Immunodeficiency in an Infant with Multiple Opportunistic Infections

(2013) Valerie M. Carlberg et al.   PEDIATRIC DERMATOLOGY

C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification

(2012) S. Mroczek et al.   GENES & DEVELOPMENT

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

(2012) P. M. Campeau et al.   HUMAN MOLECULAR GENETICS

V-ATPases in osteoclasts: Structure, function and potential inhibitors of bone resorption

(2012) A. Qin et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

SNX10mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity

(2012) Alessandra Pangrazio et al.   JOURNAL OF BONE AND MINERAL RESEARCH

AnSNX10mutation causes malignant osteopetrosis of infancy

(2012) Memet Aker et al.   JOURNAL OF MEDICAL GENETICS

Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

(2012) Elisa A Colombo et al.   Orphanet Journal of Rare Diseases

Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications

(2012) A. Pangrazio et al.   OSTEOPOROSIS INTERNATIONAL

ClC-7 is a slowly voltage-gated 2Cl−/1H+-exchanger and requires Ostm1 for transport activity

(2011) Lilia Leisle et al.   EMBO JOURNAL

RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations

(2011) Alessandra Pangrazio et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Kindlin-3–mediated signaling from multiple integrin classes is required for osteoclast-mediated bone resorption

(2011) Sarah Schmidt et al.   JOURNAL OF CELL BIOLOGY

Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011

(2011) Yang Xue et al.   Orphanet Journal of Rare Diseases

A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID)

(2010) Catherine M. L. Roberts et al.   EUROPEAN JOURNAL OF PEDIATRICS

Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations

(2008) Matteo M. Guerrini et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Infantile Malignant, Autosomal Recessive Osteopetrosis: The Rich and The Poor

(2008) Anna Villa et al.   CALCIFIED TISSUE INTERNATIONAL

OSTM1 regulates β-catenin/Lef1 interaction and is required for Wnt/β-catenin signaling

(2008) Michael E. Feigin et al.   CELLULAR SIGNALLING