Research & Literature

Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.

Huang X, Deng X, Xu H, et al.

PloS one 2015; (10(6)):e0127529 doi:10.1371/journal.pone.0127529.

Outcomes of total hip arthroplasty in patients with osteonecrosis of the femoral head-a current review.

Pierce TP, Elmallah RK, Jauregui JJ, et al.

Current reviews in musculoskeletal medicine 2015; (8(3)):246-51 doi:10.1007/s12178-015-9283-x.

Current concepts on osteonecrosis of the femoral head.

Moya-Angeler J, Gianakos AL, Villa JC, et al.

World journal of orthopedics 2015; (6(8)):590-601 doi:10.5312/wjo.v6.i8.590.

Short term evaluation of total hip arthroplasty; our experience at tertiary care center.

Saeed UB, Ahmad Khan RD, Zain-Ur-Rehman M, Yasin A

JPMA. The Journal of the Pakistan Medical Association 2015; (65(11 Suppl 3)):S190-4.

A Twin Study of Perthes Disease.

Metcalfe D, Van Dijck S, Parsons N, et al.

Pediatrics 2016; (137(3)):e20153542 doi:10.1542/peds.2015-3542.

The role of imaging in diagnosis and management of femoral head avascular necrosis.

Manenti G, Altobelli S, Pugliese L, Tarantino U

Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases 2015; (12(Suppl 1)):31-8 doi:10.11138/ccmbm/2015.12.3s.031.

Screening of the COL2A1 mutation in idiopathic osteonecrosis of the femoral head.

Sakamoto Y, Yamamoto T, Miyake N, et al.

Journal of orthopaedic research : official publication of the Orthopaedic Research Society 2017; (35(4)):768-774 doi:10.1002/jor.23300.

Molecular genetics of the COL2A1-related disorders.

Deng H, Huang X, Yuan L

Mutation research. Reviews in mutation research 2016; (768()):1-13.

A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity.

Nakashima Y, Sakamoto Y, Nishimura G, et al.

Human genome variation 2016; (3()):16007 doi:10.1038/hgv.2016.7.

Significant Associations of SOX9 Gene Polymorphism and Gene Expression with the Risk of Osteonecrosis of the Femoral Head in a Han Population in Northern China.

Song Y, Du Z, Ren M, et al.

BioMed research international 2016; (2016()):5695317 doi:10.1155/2016/5695317.

Outcomes after total hip arthroplasty in young patients with osteonecrosis of the hip.

Swarup I, Shields M, Mayer EN, et al.

Hip international : the journal of clinical and experimental research on hip pathology and therapy 2017; (27(3)):286-292 doi:10.5301/hipint.5000457.

Bone Marrow Aspirate Concentrate in Combination With Intravenous Iloprost Increases Bone Healing in Patients With Avascular Necrosis of the Femoral Head: A Matched Pair Analysis.

Pilge H, Bittersohl B, Schneppendahl J, et al.

Orthopedic reviews 2016; (8(4)):6902 doi:10.4081/or.2016.6902.

Total hip arthroplasty in young patients with post-traumatic arthritis of the hip.

Swarup I, Sutherland R, Burket JC, Figgie MP

Hip international : the journal of clinical and experimental research on hip pathology and therapy 2017; (27(6)):546-550 doi:10.5301/hipint.5000499.

A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family.

Xiong Q, Liu Y, Xue Y, et al.

Human genome variation 2018; (5()):17059 doi:10.1038/hgv.2017.59.

Efficacy of bisphosphonates in the treatment of femoral head osteonecrosis: A PRISMA-compliant meta-analysis of animal studies and clinical trials.

Li D, Yang Z, Wei Z, Kang P

Scientific reports 2018; (8(1)):1450 doi:10.1038/s41598-018-19884-z.

Radiological analysis of cystic lesion in osteonecrosis of the femoral head.

Gao F, Han J, He Z, Li Z

International orthopaedics 2018; (42(7)):1615-1621 doi:10.1007/s00264-018-3958-z.

COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report.

Liu F, Xiong Z, Liu Q, et al.

Molecular medicine reports 2018; (18(1)):254-260 doi:10.3892/mmr.2018.8984.

Accuracy of MRI diagnosis of early osteonecrosis of the femoral head: a meta-analysis and systematic review.

Zhang YZ, Cao XY, Li XC, et al.

Journal of orthopaedic surgery and research 2018; (13(1)):167 doi:10.1186/s13018-018-0836-8.

Effectiveness of Strontium Ranelate in the Treatment of Rat Model of Legg-Calve-Perthes Disease.

Chen YP, Tan A, Ho WP, et al.

Indian journal of orthopaedics 2018; (52(4)):380-386 doi:10.4103/ortho.IJOrtho_437_16.

[MRI relevance in femoral head osteonecrosis: 3 case studies].

Traore O, Moussali N, Wakrim S, et al.

Le Mali medical 2016; (31(1)):25-33.

[Total hip replacement in avascular femoral head necrosis].

Betsch M, Tingart M, Driessen A, et al.

Der Orthopade 2018; (47(9)):751-756 doi:10.1007/s00132-018-3617-5.

MMP-14 single-nucleotide polymorphisms are related to steroid-induced osteonecrosis of the femoral head in the population of northern China.

Qi Y, Wang J, Sun M, et al.

Molecular genetics & genomic medicine 2019; (7(2)):e00519 doi:10.1002/mgg3.519.

Quantitative susceptibility mapping detects neovascularization of the epiphyseal cartilage after ischemic injury in a piglet model of legg-calvé-perthes disease.

Johnson CP, Wang L, Tóth F, et al.

Journal of magnetic resonance imaging : JMRI 2019; (50(1)):106-113 doi:10.1002/jmri.26552.

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.

Differences in magnetic resonance findings between symptomatic and asymptomatic pre-collapse osteonecrosis of the femoral head.

Hatanaka H, Motomura G, Ikemura S, et al.

European journal of radiology 2019; (112()):1-6 doi:10.1016/j.ejrad.2019.01.002.

Non-concentric Reduction Due to Entrapped Loose Bone Piece During a Single-stage Bilateral Total Hip Arthroplasty.

Jain M, Sahoo SS, Sahu NK, et al.

Cureus 2018; (10(12)):e3780 doi:10.7759/cureus.3780.

Avascular necrosis of the hip.

Lamb JN, Holton C, O'Connor P, Giannoudis PV

BMJ (Clinical research ed.) 2019; (365()):l2178 doi:10.1136/bmj.l2178.

IGF-1 polymorphisms modulate the susceptibility to osteonecrosis of the femoral head among Chinese Han population.

Wang J, Liu H, Zhang Q

Medicine 2019; (98(23)):e15921 doi:10.1097/MD.0000000000015921.

[Atraumatic and aseptic osteonecrosis of large joints].

Grieser T

Der Radiologe 2019; (59(7)):647-662 doi:10.1007/s00117-019-0560-3.

Long-term outcomes of total hip arthroplasty in patients younger than 55 years: a systematic review of the contemporary literature

Mei XY, Gong YJ, Safir O, et al.

Canadian journal of surgery. Journal canadien de chirurgie 2019; (62(4)):249-258 doi:10.1503/cjs.013118.

Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases.

Wang W, Wu Q, Sun L, et al.

Case reports in obstetrics and gynecology 2019; (2019()):7981767 doi:10.1155/2019/7981767.

Long-Term Survivorship of Total Hip Arthroplasty with Highly Cross-Linked Polyethylene for Osteonecrosis.

Hart A, Janz V, Trousdale RT, et al.

The Journal of bone and joint surgery. American volume 2019; (101(17)):1563-1568 doi:10.2106/JBJS.18.01218.

Integrated analysis of COL2A1 variant data and classification of type II collagenopathies.

Zhang B, Zhang Y, Wu N, et al.

Clinical genetics 2020; (97(3)):383-395 doi:10.1111/cge.13680.

COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita.

Nenna R, Turchetti A, Mastrogiorgio G, Midulla F

The application of clinical genetics 2019; (12()):235-238 doi:10.2147/TACG.S197205.

Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy.

Yamamoto K, Kubota T, Takeyari S, et al.

American journal of medical genetics. Part A 2020; (182(3)):454-460 doi:10.1002/ajmg.a.61422.

Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis.

Rolvien T, Yorgan TA, Kornak U, et al.

Osteoarthritis and cartilage 2020; (28(3)):334-343 doi:10.1016/j.joca.2019.12.011.

Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.

Zheng WB, Li LJ, Zhao DC, et al.

Molecular genetics & genomic medicine 2020; (8(3)):e1139 doi:10.1002/mgg3.1139.

Joint-preserving procedures for osteonecrosis of the femoral head.

Atilla B, Bakırcıoğlu S, Shope AJ, Parvızı J

EFORT open reviews 2019; (4(12)):647-658 doi:10.1302/2058-5241.4.180073.

[Pedicled vascularized iliac bone graft for treatment of osteonecrosis of the femoral head].

Asmus A, Vogel K, Vogel A, et al.

Operative Orthopadie und Traumatologie 2020; (32(2)):127-138 doi:10.1007/s00064-020-00650-2.

Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia.

Xu Y, Li L, Wang C, et al.

International journal of biological sciences 2020; (16(5)):859-868 doi:10.7150/ijbs.38811.

Functional Outcomes of Cementless Total Hip Arthroplasty in Avascular Necrosis of the Hip: A Prospective Study.

Karimi S, Kumar S, Ahmed F, et al.

Cureus 2020; (12(8)):e10136 doi:10.7759/cureus.10136.

Radiologic Features of Type II and Type XI Collagenopathies.

Handa A, Grigelioniene G, Nishimura G

Radiographics : a review publication of the Radiological Society of North America, Inc 2021; (41(1)):192-209 doi:10.1148/rg.2021200075.

Hip preservation.

Hanke MS, Schmaranzer F, Steppacher SD, et al.

EFORT open reviews 2020; (5(10)):630-640 doi:10.1302/2058-5241.5.190074.

Core decompression isolated or combined with bone marrow-derived cell therapies for femoral head osteonecrosis.

Migliorini F, Maffulli N, Eschweiler J, et al.

Expert opinion on biological therapy 2021; (21(3)):423-430 doi:10.1080/14712598.2021.1862790.

Hip Preservation With Autologous Osteoblast Cell-Based Treatment in Osteonecrosis of the Femoral Head.

Palekar G

Orthopedics 2021; (44(2)):e183-e189 doi:10.3928/01477447-20201210-02.

Identification of an IGF1 mutation (c.15+3G>A) in familial osteonecrosis of the femoral head: A case report.

Xu Q, Song D, Wu Z, et al.

Medicine 2021; (100(1)):e23705 doi:10.1097/MD.0000000000023705.

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.

Khan AO, AlAbdi L, Patel N, et al.

Molecular genetics & genomic medicine 2021; (9(5)):e1628 doi:10.1002/mgg3.1628.

A novel mutation of COL2A1 in a large Chinese family with avascular necrosis of the femoral head.

Zhang Z, Zhu K, Dai H, et al.

BMC medical genomics 2021; (14(1)):147 doi:10.1186/s12920-021-00995-y.

Combining autologous bone marrow buffy coat and angioconductive bioceramic rod grafting with advanced core decompression improves short-term outcomes in early avascular necrosis of the femoral head: a prospective, randomized, comparative study.

Li Q, Liao W, Fu G, et al.

Stem cell research & therapy 2021; (12(1)):354 doi:10.1186/s13287-021-02436-0.

COL2A1 Mutation (c.611G>C) Leads to Early-Onset Osteoarthritis in a Chinese Family.

Li P, Wang A, Li J, et al.

International journal of general medicine 2021; (14()):2569-2574 doi:10.2147/IJGM.S310050.

A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report.

Zhang Q, Yao R, Li Q, et al.

BMC medical genomics 2021; (14(1)):201 doi:10.1186/s12920-021-01048-0.

A new modification of the Trapdoor Procedure without surgical hip dislocation in the management of patients with osteonecrosis of the femoral head: A retrospective case series.

Akman B, Güven M, Kadıoğlu B, et al.

Acta orthopaedica et traumatologica turcica 2021; (55(4)):299-305 doi:10.5152/j.aott.2021.19276.

Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita.

Akahira-Azuma M, Enomoto Y, Nakamura N, et al.

Human genome variation 2022; (9(1)):16 doi:10.1038/s41439-022-00193-x.

Case report: Glucose 6-phosphate-isomerase deficiency combine with avascular necrosis of bilateral femoral head.

Song Z, Wang K, Arthur DT, et al.

Frontiers in pediatrics 2022; (10()):909752 doi:10.3389/fped.2022.909752.

Corticosteroids induced avascular necrosis of hip, a "long COVID-19" complication: Case report.

Annam P, Manda A, Myneni UK, et al.

Annals of medicine and surgery (2012) 2022; (82()):104753 doi:10.1016/j.amsu.2022.104753.

Total Hip Arthroplasty via direct anterior approach for osteonecrosis; comparison with primary hip osteoarthritis in a mid term follow up.

Moharrami A, Mirghaderi SP, Marzban S, et al.

Journal of clinical orthopaedics and trauma 2022; (34()):102042 doi:10.1016/j.jcot.2022.102042.

Legg-Calve-Perthes' disease: an opportunity to prevent blindness?

Wang A, Nixon T, Martin H, et al.

Archives of disease in childhood 2023; (108(10)):789-791 doi:10.1136/archdischild-2022-325059.

Increasing trend toward joint-preserving procedures for hip osteonecrosis in the United States from 2010 to 2019.

Ng MK, Kobryn A, Golub IJ, et al.

Arthroplasty (London, England) 2023; (5(1)):23 doi:10.1186/s42836-023-00176-5.

Efficacy of autologous stem cell therapy in femoral head avascular necrosis: a comparative study.

Ulusoy İ, Yılmaz M, Kıvrak A

Journal of orthopaedic surgery and research 2023; (18(1)):799 doi:10.1186/s13018-023-04297-0.

Exome sequencing-aided precise diagnosis of four families with type I Stickler syndrome.

Tian R, Tong P, He Y, et al.

Molecular genetics & genomic medicine 2024; (12(1)):e2331 doi:10.1002/mgg3.2331.

Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype.

Marchionni E, D'Apice MR, Lupo V, et al.

Bone reports 2023; (19()):101728 doi:10.1016/j.bonr.2023.101728.

X-ray, digital tomographic fusion, CT, and MRI in early ischemic necrosis of the femoral head.

Ge H, Wang Z, Zhang J

Medicine 2024; (103(2)):e36281 doi:10.1097/MD.0000000000036281.

Mid-term survivorship and clinical results of cementless total hip arthroplasty for steroid-induced avascular necrosis.

Karatas ME, Kemah B, Soylemez MS, Saglam N

Northern clinics of Istanbul 2024; (11(3)):219-224 doi:10.14744/nci.2023.38107.

Diagnostic Challenge of Phenotypic Variability in COL2A1-related Disorders: Four Novel Variants That Expand the Clinical Spectrum

Yeter B, Kendir Demirkol Y, Eser M, et al.

Journal of clinical research in pediatric endocrinology 2025; (17(3)):297-306 doi:10.4274/jcrpe.galenos.2025.2024-9-7.

Progress in understanding Legg-Calvé-Perthes disease etiology from a molecular and cellular biology perspective.

Zheng X, Dong Z, Ding X, et al.

Frontiers in physiology 2025; (16()):1514302 doi:10.3389/fphys.2025.1514302.

Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study.

Fagereng E, Htwe S, McDonald S, et al.

Orphanet journal of rare diseases 2025; (20(1)):116 doi:10.1186/s13023-025-03610-w.

Osteonecrosis of the femoral head: treatment before the collapse. Experience with decompression and biological therapy.

Lara-Taranchenko Y, Mimendia I, Barro V, et al.

European journal of orthopaedic surgery & traumatology : orthopedie traumatologie 2025; (35(1)):145 doi:10.1007/s00590-025-04257-w.

Total Femoral Head Collapse in a Corticosteroid-Induced Pathologic Fracture.

Dale JL, Sayeed Z

Cureus 2025; (17(3)):e81543 doi:10.7759/cureus.81543.

Pathogenicity effects of a COL2A1 missense mutation (c.1594G>C) in cartilage development.

Zhou J, Yuan T

Translational pediatrics 2025; (14(7)):1511-1519 doi:10.21037/tp-2025-79.

Minimally invasive core decompression with/without valgus intertrochanteric osteotomy for early-to-early-collapse avascular necrosis of the femoral head: A prospective case series.

Mulyadi D, Mas'ud MS, Riantho A

International journal of surgery case reports 2025; (134()):111821 doi:10.1016/j.ijscr.2025.111821.

Core Decompression for Osteonecrosis of the Femoral Head.

Vega JF, Cervantes JE, Yee BF, Nho SJ

Video journal of sports medicine 2026; (6(1)):26350254251368924 doi:10.1177/26350254251368924.

SRY-box transcription factor 9 and insulin-like growth factor 1 as potential regulators in the pathogenesis of unilateral condylar hyperplasia: a pilot study.

Chaurand J, Mondragón-Terán P, Magaña-Quiñones JJ, Godínez-Victoria M

International journal of oral and maxillofacial surgery 2026; doi:10.1016/j.ijom.2026.02.003.

Necrotic-cell-activated macrophages drive an ERK-Bcl-xL survival pathway in osteoclasts and confer bisphosphonate resistance.

Uehara K, Kato K, Tsuji S, et al.

Biochemical and biophysical research communications 2026; (812()):153591 doi:10.1016/j.bbrc.2026.153591.

Familial Cases of Legg-Calvé-Perthes Disease-Hemostatic and Molecular Markers.

Hernández-Zamora E, Rodríguez-Olivas AO, Galicia-Alvarado MA, et al.

International journal of molecular sciences 2026; (27(5)) doi:10.3390/ijms27052195.