Research & Literature

Null mutation of chloride channel 7 (Clcn7) impairs dental root formation but does not affect enamel mineralization.

Guo J, Bervoets TJ, Henriksen K, et al.

Cell and tissue research 2016; (363(2)):361-70 doi:10.1007/s00441-015-2263-z.

Osteopetrosis - Classic Imaging Findings in the Spine.

Kirkland JD, O'Brien WT

Journal of clinical and diagnostic research : JCDR 2015; (9(8)):TJ01-2 doi:10.7860/JCDR/2015/13334.6348.

Marble Bone Disease: A Rare Bone Disorder.

Arumugam E, Harinathbabu M, Thillaigovindan R, Prabhu G

Cureus 2015; (7(10)):e339 doi:10.7759/cureus.339.

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.

Piret SE, Gorvin CM, Trinh A, et al.

American journal of medical genetics. Part A 2016; (170(11)):2988-2992 doi:10.1002/ajmg.a.37755.

Atypical Fractures Following Bisphosphonate Therapy.

Patel RN, Ashraf A, Sundaram M

Seminars in musculoskeletal radiology 2016; (20(4)):376-381 doi:10.1055/s-0036-1593766.

Clinical Characteristics and Treatment of Osteopetrosis Complicated by Osteomyelitis of the Mandible.

Sun HJ, Xue L, Wu CB, Zhou Q

The Journal of craniofacial surgery 2016; (27(8)):e728-e730 doi:10.1097/SCS.0000000000003048.

A paradoxical presentation of rickets and secondary osteomyelitis of the jaw in Type II autosomal dominant osteopetrosis: Rare case reports.

Jayachandran S, Kumar MS

Indian journal of dental research : official publication of Indian Society for Dental Research 2016; (27(6)):667-671 doi:10.4103/0970-9290.199603.

Retrospective Review of Atypical Femoral Fracture in Metastatic Bone Disease Patients Receiving Denosumab Therapy.

Yang SP, Kim TW, Boland PJ, Farooki A

The oncologist 2017; (22(4)):438-444 doi:10.1634/theoncologist.2016-0192.

Malignant Infantile Osteopetrosis.

Gillani S, Abbas Z

Journal of Ayub Medical College, Abbottabad : JAMC 2017; (29(2)):350-352.

Clcn7F318L/+ as a new mouse model of Albers-Schönberg disease.

Caetano-Lopes J, Lessard SG, Hann S, et al.

Bone 2017; (105()):253-261 doi:10.1016/j.bone.2017.09.007.

An Insight into the Effect of Exercises on the Prevention of Osteoporosis and Associated Fractures in High-risk Individuals.

Senderovich H, Kosmopoulos A

Rambam Maimonides medical journal 2018; (9(1)) doi:10.5041/RMMJ.10325.

Bilateral endoscopic optic nerve decompression in an infant with osteopetrosis.

Medsinge A, Sylvester C, Tyler-Kabara E, Stefko ST

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2019; (23(1)):40-42 doi:10.1016/j.jaapos.2018.05.012.

Locking plate osteosynthesis for a femoral fracture and subsequent nonunion in a patient with osteopetrosis.

Matsuo T, Lee SY, Iwakura T, et al.

International journal of surgery case reports 2018; (51()):395-399 doi:10.1016/j.ijscr.2018.09.013.

Maxillary osteomyelitis associated with osteopetrosis: Systematic review.

Carvalho PHA, Moura LB, Real Gabrielli MF, et al.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery 2018; (46(11)):1905-1910 doi:10.1016/j.jcms.2018.09.004.

Medication-related osteonecrosis of the jaw: definition and best practice for prevention, diagnosis, and treatment.

Nicolatou-Galitis O, Schiødt M, Mendes RA, et al.

Oral surgery, oral medicine, oral pathology and oral radiology 2019; (127(2)):117-135 doi:10.1016/j.oooo.2018.09.008.

Prevalence of mental health conditions and pain in adults with skeletal dysplasia.

Jennings SE, Ditro CP, Bober MB, et al.

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 2019; (28(6)):1457-1464 doi:10.1007/s11136-019-02102-2.

Risk factors for nonunion after intramedullary nailing of subtrochanteric femoral fractures.

Krappinger D, Wolf B, Dammerer D, et al.

Archives of orthopaedic and trauma surgery 2019; (139(6)):769-777 doi:10.1007/s00402-019-03131-9.

A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation

Kang S, Kang YK, Lee JA, et al.

Journal of clinical research in pediatric endocrinology 2019; (11(4)):439-443 doi:10.4274/jcrpe.galenos.2019.2018.0229.

Novel CLCN7 mutations cause autosomal dominant osteopetrosis type II and intermediate autosomal recessive osteopetrosis.

Li L, Lv SS, Wang C, et al.

Molecular medicine reports 2019; (19(6)):5030-5038 doi:10.3892/mmr.2019.10123.

[Atypical fracture of the femur related to prolonged bisphosphonate use. The importance of saying 'enough's enough'].

Mora-Boga R, Castiella Muruzábal S, Álvarez Jaurrieta C, Ruiz-Castillo A

Rehabilitacion 2019; (53(2)):121-125 doi:10.1016/j.rh.2018.12.005.

The limitations of today's clinical guidance: Atypical femoral fracture and long-term bone-modifying agents in the oncology setting.

Cheung E, Borno HT

Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners 2020; (26(5)):1180-1189 doi:10.1177/1078155220907965.

Cognitive behavior therapy-based intervention for a subacute stroke patient with severe fear of falling: a case report.

Ohyagi S, Tatemoto T, Inoue S, et al.

International journal of rehabilitation research. Internationale Zeitschrift fur Rehabilitationsforschung. Revue internationale de recherches de readaptation 2020; (43(4)):383-385 doi:10.1097/MRR.0000000000000425.

Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis.

Chorin O, Yachelevich N, Mohamed K, et al.

Molecular genetics & genomic medicine 2020; (8(10)):e1405 doi:10.1002/mgg3.1405.

Intramedullary nailing for subtrochanteric fracture in autosomal dominant Type II osteopetrosis: Case report of 2 patients.

Kim J, Park YC, Moon HS, et al.

Medicine 2020; (99(32)):e21648 doi:10.1097/MD.0000000000021648.

Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants.

Di Zanni E, Palagano E, Lagostena L, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2021; (36(3)):531-545 doi:10.1002/jbmr.4200.

Paediatric bilateral femoral neck fractures in osteopetrosis treated conservatively.

Kumar S, Dhammi IK, Shahi P, Zafar A

BMJ case reports 2020; (13(12)) doi:10.1136/bcr-2020-236891.

Case report of osteomyelitis of the mandible in osteopetrosis and management considerations.

Allal S, Rabuel V, Gengler C, et al.

International journal of surgery case reports 2021; (81()):105813 doi:10.1016/j.ijscr.2021.105813.

Surgical management of chronic osteomyelitis with benign osteopetrosis: A case report.

Raiteb M, Elmrini S, Slimani F

Annals of medicine and surgery (2012) 2021; (65()):102296 doi:10.1016/j.amsu.2021.102296.

Bone health in long-term survivors of pediatric acute lymphoblastic leukemia. An assessment by peripheral quantitative computed tomography.

Barr RD, Inglis D, Athale U, et al.

Pediatric blood & cancer 2021; (68(12)):e29218 doi:10.1002/pbc.29218.

A cross-sectional nationwide survey of osteosclerotic skeletal dysplasias in Japan.

Sawamura K, Mishima K, Matsushita M, et al.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association 2022; (27(5)):1139-1142 doi:10.1016/j.jos.2021.05.012.

Atypical femoral fracture in a metastatic bone disease patient six months after discontinuation of denosumab received sequentially to previous bisphosphonate therapy - A case report.

Georgiadis GF, Balanika AP, Vasilakis AΕ, et al.

Journal of musculoskeletal & neuronal interactions 2021; (21(3)):429-433.

Should Q-CT Be the Gold Standard for Detecting Spinal Osteoporosis?

Kulkarni AG, Thonangi Y, Pathan S, et al.

Spine 2022; (47(6)):E258-E264 doi:10.1097/BRS.0000000000004224.

Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.

Liang H, Li N, Yao RE, et al.

Molecular genetics & genomic medicine 2021; (9(11)):e1815 doi:10.1002/mgg3.1815.

Managing Osteopetrosis in the Complex Polytrauma Orthopedic Patient.

Sabacinski K, Booth M, Bramer M

Cureus 2022; (14(2)):e21886 doi:10.7759/cureus.21886.

Natural History of Type II Autosomal Dominant Osteopetrosis: A Single Center Retrospective Study.

Wang Z, Li X, Wang Y, et al.

Frontiers in endocrinology 2022; (13()):819641 doi:10.3389/fendo.2022.819641.

Anterior cruciate ligament rupture in a patient with Albers-Schonberg disease.

Lu K, Cheng B, Shi Q, et al.

BMC musculoskeletal disorders 2022; (23(1)):719 doi:10.1186/s12891-022-05687-x.

The role of opportunistic quantitative computed tomography in the evaluation of bone disease and risk of fracture in thalassemia major.

Carnevale A, Pellegrino F, Bravi B, et al.

European journal of haematology 2022; (109(6)):648-655 doi:10.1111/ejh.13847.

Imaging in osteopetrosis.

Calder AD, Arulkumaran S, D'Arco F

Bone 2022; (165()):116560 doi:10.1016/j.bone.2022.116560.

Osteopathia striata with cranial sclerosis causing a compressive optic neuropathy.

Hu JCW, Abdelhakim AH, North VS, et al.

Ophthalmic genetics 2023; (44(5)):496-500 doi:10.1080/13816810.2022.2144902.

Prosthetic Management of Albers-Schönberg Disease with Osteomyelitis: A 10-Year Follow-up Case Report.

Millet C, Ducret M, Lafon A

The International journal of prosthodontics 2023; (36(5)):642-648 doi:10.11607/ijp.8255.

CLCN7, a gene shared by autosomal recessive and autosomal dominant osteopetrosis.

Stauber T, Wartosch L, Vishnolia S, et al.

Bone 2023; (168()):116639 doi:10.1016/j.bone.2022.116639.

Clinical and genetic diagnosis of autosomal dominant osteopetrosis type II in a Chinese family: A case report.

Gong HP, Ren Y, Zha PP, et al.

World journal of clinical cases 2023; (11(3)):700-708 doi:10.12998/wjcc.v11.i3.700.

The association of fear of falling and physical and mental Health-Related Quality of Life (HRQoL) among community-dwelling older persons; a cross-sectional study of Urban Health Centres Europe (UHCE).

Korenhof SSA, van Grieken AA, Franse CCB, et al.

BMC geriatrics 2023; (23(1)):291 doi:10.1186/s12877-023-04004-y.

Effect of Roflumilast, a Selective PDE4 Inhibitor, on Bone Phenotypes in ADO2 Mice.

Alam I, Hardman SL, Gerard-O'Riley RL, et al.

Calcified tissue international 2024; (114(4)):419-429 doi:10.1007/s00223-023-01180-2.

Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gaps On behalf of the European calcified tissue society and ERN BOND.

Funck-Brentano T, Zillikens MC, Clunie G, et al.

European journal of medical genetics 2024; (69()):104936 doi:10.1016/j.ejmg.2024.104936.

Patient-Reported Outcomes in Autosomal Dominant Osteopetrosis: Findings From the Osteopetrosis Registry Study.

Polgreen LE, Villa-Lopez E, Chen L, et al.

The Journal of clinical endocrinology and metabolism 2025; (110(3)):e607-e614 doi:10.1210/clinem/dgae285.

Management of Osteomyelitis in Autosomal Dominant Osteopetrosis: A Rare Case Report.

Almutairi M, Alharbi A, Almutairi H, et al.

Cureus 2024; (16(6)):e62660 doi:10.7759/cureus.62660.

Kinesiophobia and associated factors in postmenopausal osteoporosis: a controlled study.

Ahısha BŞ

Revista da Associacao Medica Brasileira (1992) 2024; (70(12)):e20241042 doi:10.1590/1806-9282.20241042.

Limited Reconstructive Options of Jaw Osteomyelitis in the Osteopetrosis Patient Complicated by Blood Dyscrasia.

Mustakim KR, Eo MY, Kim SM

The Journal of craniofacial surgery 2025; (36(4)):e425-e428 doi:10.1097/SCS.0000000000010984.

Benign Adult-Type Osteopetrosis with Recurrent Osteomyelitis of the Maxilla-A Rare Case Report.

Aswath N, Bhargavi R

Indian journal of dental research : official publication of Indian Society for Dental Research 2024; doi:10.4103/ijdr.ijdr_10_24.

The relationships among positive coping style, psychological resilience, and fear of falling in older adults.

Liu S, Xiao H, Qi P, et al.

BMC geriatrics 2025; (25(1)):51 doi:10.1186/s12877-025-05682-6.

Development and evaluation of siRNA-mediated gene silencing strategies for ADO2 therapy utilizing iPSCs model and DMPC-SPIONs delivery system.

Xu J, Chen G, Mo C, et al.

Stem cell research & therapy 2025; (16(1)):66 doi:10.1186/s13287-025-04151-6.

SUGAR-seq reveals the transcriptome and N-linked glycosylation landscape of mononuclear phagocytes at single-cell resolution in a mouse model of autosomal dominant osteopetrosis type 2.

Sha Y, Huang L, Zhang L, et al.

BMC biology 2025; (23(1)):91 doi:10.1186/s12915-025-02193-z.

[Exostosis at the inner ear canal].

Eliesersdóttir TH, Kuga M, Cheshenko N, Delekta AM

Ugeskrift for laeger 2025; (187(23)) doi:10.61409/V08240513.

Subtrochanteric Femur Fracture in Osteopetrosis With Multiple Previous Fractures: A Case Report on Surgical Challenges and Outcome.

Bist O, Dahal S, Khati S, et al.

Clinical case reports 2025; (13(10)):e71203 doi:10.1002/ccr3.71203.

Comparative diagnostic performance of dual-energy X-ray absorptiometry and other radiological modalities in osteoporosis detection: a systematic review.

Wally SF, Wali MF, Hariri OA, et al.

Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry 2026; (29(1)):101637 doi:10.1016/j.jocd.2025.101637.

Actions to control the fear of falling in older people: An umbrella review.

Oliveira ARC, Magueja CMP, Gonçalves de Almeida AM

Archives of gerontology and geriatrics 2026; (141()):106087 doi:10.1016/j.archger.2025.106087.

Ocular adverse effects of bisphosphonates and association with osteonecrosis from a real-world database.

Kim SH, Rahimy E, Koo EB, et al.

Eye (London, England) 2026; (40(4)):534-539 doi:10.1038/s41433-025-04185-3.

Autosomal Dominant Osteopetrosis - Identification of a New Mutation.

Monteiro I, Moutinho-Pereira S, Kornak U, Carneiro L

European journal of case reports in internal medicine 2025; (12(12)):006042 doi:10.12890/2025_006042.