|
1
|
Lee TJ, Chopra M, Kim RH, Parkin PC and
Barnett-Tapia C: Incidence and prevalence of neurofibromatosis type
1 and 2: A systematic review and meta-analysis. Orphanet J Rare
Dis. 18:2922023. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Williams VC, Lucas J, Babcock MA, Gutmann
DH, Korf B and Maria BL: Neurofibromatosis type 1 revisited.
Pediatrics. 123:124–133. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Anastasaki C, Orozco P and Gutmann DH: RAS
and beyond: The many faces of the neurofibromatosis type 1 protein.
Dis Model Mech. 15:dmm0493622022. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Mo J, Moye SL, McKay RM and Le LQ:
Neurofibromin and suppression of tumorigenesis: Beyond the GAP.
Oncogene. 41:1235–1251. 2022. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Báez-Flores J, Rodríguez-Martín M and
Lacal J: The therapeutic potential of neurofibromin signaling
pathways and binding partners. Commun Biol. 6:4362023. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Friedman JM: Neurofibromatosis 1: Clinical
manifestations and diagnostic criteria. J Child Neurol. 17:548–554.
571–542. 646–551. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Stewart DR, Korf BR, Nathanson KL,
Stevenson DA and Yohay K: Care of adults with neurofibromatosis
type 1: A clinical practice resource of the American College of
Medical Genetics and Genomics (ACMG). Genet Med. 20:671–682. 2018.
View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Kaspiris A, Savvidou OD, Vasiliadis ES,
Hadjimichael AC, Melissaridou D, Iliopoulou-Kosmadaki S, Iliopoulos
ID, Papadimitriou E and Chronopoulos E: Current aspects on the
pathophysiology of bone metabolic defects during progression of
scoliosis in neurofibromatosis Type 1. J Clin Med. 11:4442022.
View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Elefteriou F, Kolanczyk M, Schindeler A,
Viskochil DH, Hock JM, Schorry EK, Crawford AH, Friedman JM, Little
D, Peltonen J, et al: Skeletal abnormalities in neurofibromatosis
type 1: Approaches to therapeutic options. Am J Med Genet A.
149a:2327–2338. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Rodari G, Scuvera G, Ulivieri FM, Profka
E, Menni F, Saletti V, Esposito S, Bergamaschi S, Ferrante E,
Eller-Vainicher C, et al: Progressive bone impairment with age and
pubertal development in neurofibromatosis type I. Arch Osteoporos.
13:932018. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Schindeler A and Little DG: Recent
insights into bone development, homeostasis, and repair in type 1
neurofibromatosis (NF1). Bone. 42:616–622. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Wu X, Estwick SA, Chen S, Yu M, Ming W,
Nebesio TD, Li Y, Yuan J, Kapur R, Ingram D, et al: Neurofibromin
plays a critical role in modulating osteoblast differentiation of
mesenchymal stem/progenitor cells. Hum Mol Genet. 15:2837–2845.
2006. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Rhodes SD, Yang H, Dong R, Menon K, He Y,
Li Z, Chen S, Staser KW, Jiang L, Wu X, et al: Nf1
haploinsufficiency alters myeloid lineage commitment and function,
leading to deranged skeletal homeostasis. J Bone Miner Res.
30:1840–1851. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Shah H, Rousset M and Canavese F:
Congenital pseudarthrosis of the tibia: Management and
complications. Indian J Orthop. 46:616–626. 2012. View Article : Google Scholar
|
|
15
|
Ferrara UP, Tortora C, Rosano C, Assunto
A, Rossi A, Pagano S, Falco M, Simeoli C, Ferrigno R, D'Amico A, et
al: Bone metabolism in patients with type 1 neurofibromatosis: Key
role of sun exposure and physical activity. Sci Rep. 12:43682022.
View Article : Google Scholar
|
|
16
|
Wallace MR, Marchuk DA, Andersen LB,
Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton A, Nicholson
J, Mitchell AL, et al: Type 1 neurofibromatosis gene:
Identification of a large transcript disrupted in three NF1
patients. Science. 249:181–186. 1990. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Dorschner MO, Sybert VP, Weaver M,
Pletcher BA and Stephens K: NF1 microdeletion breakpoints are
clustered at flanking repetitive sequences. Hum Mol Genet. 9:35–46.
2000. View Article : Google Scholar
|
|
18
|
Bergoug M, Doudeau M, Godin F, Mosrin C,
Vallée B and Bénédetti H: Neurofibromin structure, functions and
regulation. Cells. 9:23652020. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Marchuk DA, Saulino AM, Tavakkol R,
Swaroop M, Wallace MR, Andersen LB, Mitchell AL, Gutmann DH,
Boguski M and Collins FS: cDNA cloning of the type 1
neurofibromatosis gene: Complete sequence of the NF1 gene product.
Genomics. 11:931–940. 1991. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Cawthon RM, Weiss R, Xu GF, Viskochil D,
Culver M, Stevens J, Robertson M, Dunn D, Gesteland R, O'Connell P,
et al: A major segment of the neurofibromatosis type 1 gene: CDNA
sequence, genomic structure, and point mutations. Cell. 62:193–201.
1990. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Miller AH and Halloran MC: Mechanistic
insights from animal models of neurofibromatosis type 1 cognitive
impairment. Dis Model Mech. 15:dmm0494222022. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Xu GF, Lin B, Tanaka K, Dunn D, Wood D,
Gesteland R, White R, Weiss R and Tamanoi F: The catalytic domain
of the neurofibromatosis type 1 gene product stimulates ras GTPase
and complements ira mutants of S. cerevisiae. Cell. 63:835–841.
1990. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Ballester R, Marchuk D, Boguski M, Saulino
A, Letcher R, Wigler M and Collins F: The NF1 locus encodes a
protein functionally related to mammalian GAP and yeast IRA
proteins. Cell. 63:851–859. 1990. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Xu GF, O'Connell P, Viskochil D, Cawthon
R, Robertson M, Culver M, Dunn D, Stevens J, Gesteland R, White R,
et al: The neurofibromatosis type 1 gene encodes a protein related
to GAP. Cell. 62:599–608. 1990. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Molina JR and Adjei AA: The Ras/Raf/MAPK
pathway. J Thorac Oncol. 1:7–9. 2006. View Article : Google Scholar
|
|
26
|
Downward J: Control of ras activation.
Cancer Surv. 27:87–100. 1996.PubMed/NCBI
|
|
27
|
Giraud JS, Bièche I, Pasmant É and
Tlemsani C: NF1 alterations in cancers: Therapeutic implications in
precision medicine. Expert Opin Investig Drugs. 32:941–957. 2023.
View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Tong J, Hannan F, Zhu Y, Bernards A and
Zhong Y: Neurofibromin regulates G protein-stimulated adenylyl
cyclase activity. Nat Neurosci. 5:95–96. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
29
|
Chen M, Lu L, Cheng D, Zhang J, Liu X,
Zhang J and Zhang T: Icariin promotes osteogenic differentiation in
a cell model with NF1 gene knockout by activating the cAMP/PKA/CREB
Pathway. Molecules. 28:51282023. View Article : Google Scholar : PubMed/NCBI
|
|
30
|
Daston MM and Ratner N: Neurofibromin, a
predominantly neuronal GTPase activating protein in the adult, is
ubiquitously expressed during development. Dev Dyn. 195:216–226.
1992. View Article : Google Scholar : PubMed/NCBI
|
|
31
|
Karnoub AE and Weinberg RA: Ras oncogenes:
Split personalities. Nat Rev Mol Cell Biol. 9:517–531. 2008.
View Article : Google Scholar : PubMed/NCBI
|
|
32
|
Stevenson DA, Schwarz EL, Viskochil DH,
Moyer-Mileur LJ, Murray M, Firth SD, D'Astous JL, Carey JC and
Pasquali M: Evidence of increased bone resorption in
neurofibromatosis type 1 using urinary pyridinium crosslink
analysis. Pediatr Res. 63:697–701. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
33
|
Yu X, Chen S, Potter OL, Murthy SM, Li J,
Pulcini JM, Ohashi N, Winata T, Everett ET, Ingram D, et al:
Neurofibromin and its inactivation of Ras are prerequisites for
osteoblast functioning. Bone. 36:793–802. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
34
|
Kuorilehto T, Nissinen M, Koivunen J,
Benson MD and Peltonen J: NF1 tumor suppressor protein and mRNA in
skeletal tissues of developing and adult normal mouse and
NF1-deficient embryos. J Bone Miner Res. 19:983–989. 2004.
View Article : Google Scholar : PubMed/NCBI
|
|
35
|
Paria N, Khalid A, Shen B, Lemoine B, Chan
J, Kidane YH, Oxendine I, Cornelia R, Wise CA and Rios JJ:
Molecular dissection of somatic skeletal disease in
neurofibromatosis type 1. J Bone Miner Res. 38:288–299. 2023.
View Article : Google Scholar :
|
|
36
|
Darle A, Mahiet T, Aubin D, Doyen M, El
Kassar L, Parfait B, Lemaitre G, Baldeschi C, Allouche J and Holic
N: Generation of heterozygous and homozygous NF1 lines from
human-induced pluripotent stem cells using CRISPR/Cas9 to
investigate bone defects associated with neurofibromatosis type 1.
Front Cell Dev Biol. 12:13595612024. View Article : Google Scholar : PubMed/NCBI
|
|
37
|
de la Croix Ndong J, Makowski AJ,
Uppuganti S, Vignaux G, Ono K, Perrien DS, Joubert S, Baglio SR,
Granchi D, Stevenson DA, et al: Corrigendum: Asfotase-α improves
bone growth, mineralization and strength in mouse models of
neurofibromatosis type-1. Nat Med. 21:4142015. View Article : Google Scholar
|
|
38
|
Alanne MH, Siljamäki E, Peltonen S,
Väänänen K, Windle JJ, Parada LF, Määttä JA and Peltonen J:
Phenotypic characterization of transgenic mice harboring Nf1+/− or
Nf1−/− osteoclasts in otherwise Nf1+/+ background. J Cell Biochem.
113:2136–2146. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
39
|
Heervä E, Alanne MH, Peltonen S,
Kuorilehto T, Hentunen T, Väänänen K and Peltonen J: Osteoclasts in
neurofibromatosis type 1 display enhanced resorption capacity,
aberrant morphology, and resistance to serum deprivation. Bone.
47:583–590. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
40
|
Liu N, Xu N, Wei LH and Chai GL: Mammalian
target of rapamycin inhibitor abrogates abnormal osteoclastogenesis
in neurofibromatosis type 1. Chin Med J (Engl). 126:101–107. 2013.
View Article : Google Scholar : PubMed/NCBI
|
|
41
|
Yang FC, Chen S, Robling AG, Yu X, Nebesio
TD, Yan J, Morgan T, Li X, Yuan J, Hock J, et al: Hyperactivation
of p21ras and PI3K cooperate to alter murine and human
neurofibromatosis type 1-haploinsufficient osteoclast functions. J
Clin Invest. 116:2880–2891. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
42
|
Kühnisch J, Seto J, Lange C, Stumpp S,
Kobus K, Grohmann J, Elefteriou F, Fratzl P, Mundlos S and
Kolanczyk M: Neurofibromin inactivation impairs osteocyte
development in Nf1Prx1 and Nf1Col1 mouse models. Bone. 66:155–162.
2014. View Article : Google Scholar : PubMed/NCBI
|
|
43
|
Kamiya N, Yamaguchi R, Aruwajoye O, Kim
AJ, Kuroyanagi G, Phipps M, Adapala NS, Feng JQ and Kim HK:
Targeted disruption of NF1 in osteocytes increases FGF23 and
osteoid with Osteomalacia-like bone phenotype. J Bone Miner Res.
32:1716–1726. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
44
|
Kolanczyk M, Kossler N, Kühnisch J,
Lavitas L, Stricker S, Wilkening U, Manjubala I, Fratzl P, Spörle
R, Herrmann BG, et al: Multiple roles for neurofibromin in skeletal
development and growth. Hum Mol Genet. 16:874–886. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
45
|
Ono K, Karolak MR, Ndong Jde L, Wang W,
Yang X and Elefteriou F: The ras-GTPase activity of neurofibromin
restrains ERK-dependent FGFR signaling during endochondral bone
formation. Hum Mol Genet. 22:3048–3062. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
46
|
Karolak MR, Yang X and Elefteriou F: FGFR1
signaling in hypertrophic chondrocytes is attenuated by the Ras-GAP
neurofibromin during endochondral bone formation. Hum Mol Genet.
24:2552–2564. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
47
|
Anastasaki C, Mo J, Chen JK, Chatterjee J,
Pan Y, Scheaffer SM, Cobb O, Monje M, Le LQ and Gutmann DH:
Neuronal hyperexcitability drives central and peripheral nervous
system tumor progression in models of neurofibromatosis-1. Nat
Commun. 13:27852022. View Article : Google Scholar : PubMed/NCBI
|
|
48
|
Dulai S, Briody J, Schindeler A, North KN,
Cowell CT and Little DG: Decreased bone mineral density in
neurofibromatosis type 1: Results from a pediatric cohort. J
Pediatr Orthop. 27:472–475. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
49
|
Stevenson DA, Moyer-Mileur LJ, Murray M,
Slater H, Sheng X, Carey JC, Dube B and Viskochil DH: Bone mineral
density in children and adolescents with neurofibromatosis type 1.
J Pediatr. 150:83–88. 2007. View Article : Google Scholar
|
|
50
|
Lammert M, Kappler M, Mautner VF, Lammert
K, Störkel S, Friedman JM and Atkins D: Decreased bone mineral
density in patients with neurofibromatosis 1. Osteoporos Int.
16:1161–1166. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
51
|
Lodish MB, Dagalakis U, Sinaii N,
Bornstein E, Kim A, Lokie KB, Baldwin AM, Reynolds JC, Dombi E,
Stratakis CA and Widemann BC: Bone mineral density in children and
young adults with neurofibromatosis type 1. Endocr Relat Cancer.
19:817–825. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
52
|
Kaspiris A, Vasiliadis E, Iliopoulos ID,
Panagopoulos F, Melissaridou D, Lianou I, Ntourantonis D, Savvidou
OD, Papadimitriou E and Pneumaticos SG: Bone mineral density,
vitamin D and osseous metabolism indices in neurofibromatosis type
1: A systematic review and meta-analysis. Bone. 180:1169922024.
View Article : Google Scholar
|
|
53
|
Modica R, Altieri B, D'Aniello F,
Benevento E, Cannavale G, Minotta R, Liccardi A, Colao A and
Faggiano A: Vitamin D and bone metabolism in adult patients with
neurofibromatosis type 1. Metabolites. 13:2552023. View Article : Google Scholar : PubMed/NCBI
|
|
54
|
Petramala L, Giustini S, Zinnamosca L,
Marinelli C, Colangelo L, Cilenti G, Formicuccia MC, D'Erasmo E,
Calvieri S and Letizia C: Bone mineral metabolism in patients with
neurofibromatosis type 1 (von Recklingausen disease). Arch Dermatol
Res. 304:325–331. 2012. View Article : Google Scholar
|
|
55
|
Filopanti M, Verga U, Ulivieri FM, Giavoli
C, Rodari G, Arosio M, Natacci F and Spada A: Trabecular bone score
(TBS) and bone metabolism in patients affected with type 1
neurofibromatosis (NF1). Calcif Tissue Int. 104:207–213. 2019.
View Article : Google Scholar
|
|
56
|
Jalabert M, Ferkal S, Souberbielle JC,
Sbidian E, Mageau A, Eymard F, Le Corvoisier P, Allanore L,
Chevalier X, Wolkenstein P and Guignard S: Bone status according to
neurofibromatosis type 1 phenotype: A descriptive study of 60 women
in France. Calcif Tissue Int. 108:738–745. 2021. View Article : Google Scholar : PubMed/NCBI
|
|
57
|
Heervä E, Leinonen P, Kuorilehto T,
Peltonen S, Pöyhönen M, Väänänen K and Peltonen J:
Neurofibromatosis 1-related osteopenia often progresses to
osteoporosis in 12 years. Calcif Tissue Int. 92:23–27. 2013.
View Article : Google Scholar
|
|
58
|
Heervä E, Koffert A, Jokinen E, Kuorilehto
T, Peltonen S, Aro HT and Peltonen J: A controlled register-based
study of 460 neurofibromatosis 1 patients: Increased fracture risk
in children and adults over 41 years of age. J Bone Miner Res.
27:2333–2337. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
59
|
Brunetti-Pierri N, Doty SB, Hicks J, Phan
K, Mendoza-Londono R, Blazo M, Tran A, Carter S, Lewis RA, Plon SE,
et al: Generalized metabolic bone disease in Neurofibromatosis type
I. Mol Genet Metab. 94:105–111. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
60
|
Rhodes SD, Wu X, He Y, Chen S, Yang H,
Staser KW, Wang J, Zhang P, Jiang C, Yokota H, et al: Hyperactive
transforming growth factor-β1 signaling potentiates skeletal
defects in a neurofibromatosis type 1 mouse model. J Bone Miner
Res. 28:2476–2489. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
61
|
Li H, Liu Y, Zhang Q, Jing Y, Chen S, Song
Z, Yan J, Li Y, Wu X, Zhang X, et al: Ras dependent paracrine
secretion of osteopontin by Nf1+/- osteoblasts promote osteoclast
activation in a neurofi- bromatosis type I murine model. Pediatr
Res. 65:613–618. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
62
|
Kim JM, Yang YS, Park KH, Oh H, Greenblatt
MB and Shim JH: The ERK MAPK pathway is essential for skeletal
development and homeostasis. Int J Mol Sci. 20:18032019. View Article : Google Scholar : PubMed/NCBI
|
|
63
|
Banchhor H and Chimurkar V: Congenital
pseudoarthrosis of the tibia: A narrative review. Cureus.
14:e325012022.
|
|
64
|
Crawford AH Jr and Bagamery N: Osseous
manifestations of neurofibromatosis in childhood. J Pediatr Orthop.
6:72–88. 1986. View Article : Google Scholar : PubMed/NCBI
|
|
65
|
Hermanns-Sachweh B, Senderek J, Alfer J,
Klosterhalfen B, Büttner R, Füzesi L and Weber M: Vascular changes
in the periosteum of congenital pseudarthrosis of the tibia. Pathol
Res Pract. 201:305–312. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
66
|
Sant DW, Margraf RL, Stevenson DA,
Grossmann AH, Viskochil DH, Hanson H, Everitt MD, Rios JJ,
Elefteriou F, Hennessey T and Mao R: Evaluation of somatic
mutations in tibial pseudarthrosis samples in neurofibromatosis
type 1. J Med Genet. 52:256–261. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
67
|
Cho TJ, Seo JB, Lee HR, Yoo WJ, Chung CY
and Choi IH: Biologic characteristics of fibrous hamartoma from
congenital pseudarthrosis of the tibia associated with
neurofibromatosis type 1. J Bone Joint Surg Am. 90:2735–2744. 2008.
View Article : Google Scholar : PubMed/NCBI
|
|
68
|
Lee DY, Cho TJ, Lee HR, Lee K, Moon HJ,
Park MS, Yoo WJ, Chung CY and Choi IH: Disturbed osteoblastic
differentiation of fibrous hamartoma cell from congenital
pseudarthrosis of the tibia associated with neurofibromatosis type
I. Clin Orthop Surg. 3:230–237. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
69
|
Sakamoto A, Yoshida T, Yamamoto H, Oda Y,
Tsuneyoshi M and Iwamoto Y: Congenital pseudarthrosis of the tibia:
Analysis of the histology and the NF1 gene. J Orthop Sci.
12:361–365. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
70
|
El-Hoss J, Sullivan K, Cheng T, Yu NY,
Bobyn JD, Peacock L, Mikulec K, Baldock P, Alexander IE, Schindeler
A and Little DG: A murine model of neurofibromatosis type 1 tibial
pseudarthrosis featuring proliferative fibrous tissue and
osteoclast-like cells. J Bone Miner Res. 27:68–78. 2012. View Article : Google Scholar
|
|
71
|
Van Royen K, Brems H, Legius E, Lammens J
and Laumen A: Prevalence of neurofibromatosis type 1 in congenital
pseudar- throsis of the tibia. Eur J Pediatr. 175:1193–1198. 2016.
View Article : Google Scholar : PubMed/NCBI
|
|
72
|
Lee SM, Choi IH, Lee DY, Lee HR, Park MS,
Yoo WJ, Chung CY and Cho TJ: Is double inactivation of the Nf1 gene
responsible for the development of congenital pseudarthrosis of the
tibia associ- ated with NF1? J Orthop Res. 30:1535–1540. 2012.
View Article : Google Scholar : PubMed/NCBI
|
|
73
|
Zheng Y, Zhu G, Liu Y, Zhao W, Yang Y, Luo
Z, Fu Y, Mei H and Hu Z: Case series of congenital pseudarthrosis
of the tibia unful- filling neurofibromatosis type 1 diagnosis: 21%
with somatic NF1 haploinsufficiency in the periosteum. Hum Genet.
141:1371–1383. 2022. View Article : Google Scholar : PubMed/NCBI
|
|
74
|
Liu Y, Qin ZQ, Zheng Y, Wu J, Yang G, Tan
Q, Zhu G, Liu K and Mei H: New insights into pathogenesis of
congenital pseudar- throsis of tibia in children using periosteum
proteomics analysis. Rapid Commun Mass Spectrom. 36:e93742022.
View Article : Google Scholar
|
|
75
|
Xu J, Zhang Y, Zhu K, Li J, Guan Y, He X,
Jin X, Bai G and Hu L: Clinical characteristics and in silico
analysis of congenital pseudar- throsis of the tibia combined with
neurofibromatosis type 1 caused by a novel NF1 mutation. Front
Genet. 13:9913142022. View Article : Google Scholar
|
|
76
|
Welborn M, Tambe A, Adeyemi A, Dupuis M,
Simoneau D and Brandi ML: Burden of disease and unmet needs
associated with scoliosis in neurofibromatosis type 1: A systematic
literature review. JBMR Plus. 9:ziaf0722025. View Article : Google Scholar : PubMed/NCBI
|
|
77
|
Tsirikos AI, Saifuddin A and Noordeen MH:
Spinal deformity in neurofibromatosis type-1: Diagnosis and
treatment. Eur Spine J. 14:427–439. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
78
|
Wang D, Zhang BH, Wen X, Chen KH, Xiao HT,
Xu XW and Li QF: Clinical features and surgical treatments of
scoliosis in neurofibromatosis type 1: A systemic review and
meta-analysis. Eur Spine J. 33:2646–2665. 2024. View Article : Google Scholar : PubMed/NCBI
|
|
79
|
Margraf RL, VanSant-Webb C, Mao R,
Viskochil DH, Carey J, Hanson H, D'Astous J, Grossmann A and
Stevenson DA: NF1 somatic mutation in dystrophic scoliosis. J Mol
Neurosci. 68:11–18. 2019. View Article : Google Scholar : PubMed/NCBI
|
|
80
|
Du Y, Bai T, Song J, Zhang L, Huang H, Han
P, Gai F, Guo J, Li J, Lv C, et al: The genotypic and family
characteristics and clinical intervention of neurofibromatosis type
1 gene are associ- ated with dystrophic scoliosis by whole-exome
sequencing. Front Neurol. 16:16416652025. View Article : Google Scholar
|
|
81
|
Feldman DS, Jordan C and Fonseca L:
Orthopaedic manifesta- tions of neurofibromatosis type 1. J Am Acad
Orthop Surg. 18:346–357. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
82
|
Wang W, Nyman JS, Ono K, Stevenson DA,
Yang X and Elefteriou F: Mice lacking Nf1 in osteochondroprogenitor
cells display skeletal dysplasia similar to patients with
neurofibroma- tosis type I. Hum Mol Genet. 20:3910–3924. 2011.
View Article : Google Scholar : PubMed/NCBI
|
|
83
|
Kaspiris A, Vasiliadis E, Melissaridou D,
Iliopoulos ID, Papagelopoulos PJ and Savvidou OD: Hypophosphatemic
osteomalacia in neurofibromatosis 1 associated with intracranial
gliomas and congenital renal agenesis: A rare case report and
review of the literature. J Orthop Case Rep. 12:23–29. 2022.
View Article : Google Scholar : PubMed/NCBI
|
|
84
|
Chauvel-Picard J, Lion-Francois L, Beuriat
PA, Paulus C, Szathmari A, Mottolese C, Gleizal A and Di Rocco F:
Craniofacial bone alterations in patients with neurofibromatosis
type 1. Childs Nerv Syst. 36:2391–2399. 2020. View Article : Google Scholar : PubMed/NCBI
|
|
85
|
Arrington DK, Danehy AR, Peleggi A,
Proctor MR, Irons MB and Ullrich NJ: Calvarial defects and skeletal
dysplasia in patients with neurofibromatosis type 1. J Neurosurg
Pediatr. 11:410–416. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
86
|
Chowdhry M, Hughes C, Grimer RJ, Sumathi
V, Wilson S and Jeys L: Bone sarcomas arising in patients with
neurofibroma- tosis type 1. J Bone Joint Surg Br. 91:1223–1226.
2009. View Article : Google Scholar : PubMed/NCBI
|
|
87
|
Seitz S, Schnabel C, Busse B, Schmidt HU,
Beil FT, Friedrich RE, Schinke T, Mautner VF and Amling M: High
bone turnover and accumulation of osteoid in patients with
neurofibromatosis 1. Osteoporos Int. 21:119–127. 2010. View Article : Google Scholar
|
|
88
|
Tezol O, Balcı Y, Alakaya M, Gundogan B
and Cıtak EC: Bone densitometry measurements in children with
neurofibromatosis Type 1 using quantitative computed tomography.
Singapore Med J. 63:520–526. 2022. View Article : Google Scholar :
|
|
89
|
Ahmed R, Uppuganti S, Derasari S, Meyer J,
Pennings JS, Elefteriou F and Nyman JS: Identifying bone matrix
impair- ments in a mouse model of neurofibromatosis type 1 (NF1) by
clinically translatable techniques. J Bone Miner Res. 37:1603–1621.
2022. View Article : Google Scholar : PubMed/NCBI
|
|
90
|
Liu L, Sun L, Chen Y, Wang M, Yu C, Huang
Y, Zhao S, Du H, Chen S, Fan X, et al: Delineation of dual
molecular diagnosis in patients with skeletal deformity. Orphanet J
Rare Dis. 17:1392022. View Article : Google Scholar : PubMed/NCBI
|
|
91
|
Ma Y, Gross AM, Dombi E, Pemov A, Choi K,
Chaney K, Rhodes SD, Angus SP, Sciaky N, Clapp DW, et al: A
molecular basis for neurofibroma-associated skeletal manifestations
in NF1. Genet Med. 22:1786–1793. 2020. View Article : Google Scholar : PubMed/NCBI
|
|
92
|
Wu X, Chen S, He Y, Rhodes SD, Mohammad
KS, Li X, Yang X, Jiang L, Nalepa G, Snider P, et al: The
haploinsufficient hematopoietic microenvironment is critical to the
pathological fracture repair in murine models of neurofibromatosis
type 1. PLoS One. 6:e249172011. View Article : Google Scholar : PubMed/NCBI
|
|
93
|
Paria N, Oxendine I, Podeszwa D, Wassell
M, Cornelia R, Wise CA and Rios JJ: Molecular evidence supporting
MEK inhibitor therapy in NF1 pseudarthrosis. J Bone Joint Surg Am.
107:1098–1106. 2025. View Article : Google Scholar : PubMed/NCBI
|
|
94
|
El-Hoss J, Cheng T, Carpenter EC, Sullivan
K, Deo N, Mikulec K, Little DG and Schindeler A: A combination of
rhBMP-2 (Recombinant Human Bone Morphogenetic Protein-2) and MEK
(MAP Kinase/ERK Kinase) Inhibitor PD0325901 increases bone
formation in a murine model of neurofibroma- tosis type I
pseudarthrosis. J Bone Joint Surg Am. 96:e1172014. View Article : Google Scholar
|
|
95
|
Perrin S, Protic S, Bretegnier V,
Laurendeau I, de Lageneste OD, Panara N, Ruckebusch O, Luka M,
Masson C, Maillard T, et al: MEK-SHP2 inhibition prevents Tibial
pseudarthrosis caused by NF1 loss in Schwann cells and skeletal
stem/progenitor cells. Sci Transl Med. 16:eadj15972024. View Article : Google Scholar : PubMed/NCBI
|
|
96
|
Sullivan K, El-Hoss J, Little DG and
Schindeler A: JNK inhibitors increase osteogenesis in Nf1-deficient
cells. Bone. 49:1311–1316. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
97
|
Ghadakzadeh S, Kannu P, Whetstone H,
Howard A and Alman BA: β-catenin modulation in neurofibromatosis
type 1 bone repair: Therapeutic implications. FASEB J.
30:3227–3237. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
98
|
Jin H, Wang B, Li J, Xie W, Mao Q, Li S,
Dong F, Sun Y, Ke HZ, Babij P, et al: Anti-DKK1 antibody promotes
bone fracture healing through activation of β-catenin signaling.
Bone. 71:63–75. 2015. View Article : Google Scholar :
|
|
99
|
de Blank PMK, Gross AM, Akshintala S,
Blakeley JO, Bollag G, Cannon A, Dombi E, Fangusaro J, Gelb BD,
Hargrave D, et al: MEK inhibitors for neurofibromatosis type 1
manifestations: Clinical evidence and consensus. Neuro Oncol.
24:1845–1856. 2022. View Article : Google Scholar : PubMed/NCBI
|
|
100
|
Lee FY, Sinicropi SM, Lee FS, Vitale MG,
Roye DP Jr and Choi IH: Treatment of congenital pseudarthrosis of
the tibia with recombinant human bone morphogenetic protein-7
(rhBMP-7). A report of five cases. J Bone Joint Surg Am.
88:627–633. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
101
|
Richards BS, Oetgen ME and Johnston CE:
The use of rhBMP-2 for the treatment of congenital pseudarthrosis
of the tibia: A case series. J Bone Joint Surg Am. 92:177–185.
2010. View Article : Google Scholar : PubMed/NCBI
|
|
102
|
Das SP, Ganesh S, Pradhan S, Singh D and
Mohanty RN: Effectiveness of recombinant human bone morphogenetic
protein-7 in the management of congenital pseudoarthrosis of the
tibia: A randomised controlled trial. Int Orthop. 38:1987–1992.
2014. View Article : Google Scholar : PubMed/NCBI
|
|
103
|
Yan M, Wang W, Speth U, Kluwe L, Fuest S,
Gosau M, Smeets R, Feng HC and Friedrich RE: Characterization of
dental pulp stem cell populations in the teeth of patients with
neurofibromatosis type 1-therapeutic potential for bone tissue
engineering. In Vivo. 37:548–558. 2023. View Article : Google Scholar : PubMed/NCBI
|
|
104
|
Granchi D, Devescovi V, Baglio SR, Magnani
M, Donzelli O and Baldini N: A regenerative approach for bone
repair in congenital pseudarthrosis of the tibia associated or not
asso- ciated with type 1 neurofibromatosis: Correlation between
laboratory findings and clinical outcome. Cytotherapy. 14:306–314.
2012. View Article : Google Scholar
|
|
105
|
Granchi D, Devescovi V, Baglìo SR,
Leonardi E, Donzelli O, Magnani M, Stilli S, Giunti A and Baldini
N: Biological basis for the use of autologous bone marrow stromal
cells in the treatment of congenital pseudarthrosis of the tibia.
Bone. 46:780–788. 2010. View Article : Google Scholar
|
|
106
|
Tikkanen J, Leskelä HV, Lehtonen ST,
Vähäsarja V, Melkko J, Ahvenjärvi L, Pääkkö E, Väänänen K and
Lehenkari P: Attempt to treat congenital pseudarthrosis of the
tibia with mesenchymal stromal cell transplantation. Cytotherapy.
12:593–604. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
107
|
Bobyn J, Rasch A, Kathy M, Little DG and
Schindeler A: Maximizing bone formation in posterior spine fusion
using rhBMP-2 and zoledronic acid in wild type and NF1 deficient
mice. J Orthop Res. 32:1090–1094. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
108
|
Schindeler A, Ramachandran M, Godfrey C,
Morse A, McDonald M, Mikulec K and Little DG: Modeling bone
morphogenetic protein and bisphosphonate combination therapy in
wild-type and Nf1 haploinsufficient mice. J Orthop Res. 26:65–74.
2008. View Article : Google Scholar
|
|
109
|
Deo N, Cheng TL, Mikulec K, Peacock L,
Little DG and Schindeler A: Improved union and bone strength in a
mouse model of NF1 pseudarthrosis treated with recombinant human
bone morphogenetic protein-2 and zoledronic acid. J Orthop Res.
36:930–936. 2018. View Article : Google Scholar
|
|
110
|
Schindeler A, Birke O, Yu NY, Morse A,
Ruys A, Baldock PA and Little DG: Distal Tibial fracture repair in
a neurofibroma- tosis type 1-deficient mouse treated with
recombinant bone morphogenetic protein and a bisphosphonate. J Bone
Joint Surg Br. 93:1134–1139. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
111
|
Wang W, Nyman JS, Moss HE, Gutierrez G,
Mundy GR, Yang X and Elefteriou F: Local low-dose lovastatin
delivery improves the bone-healing defect caused by Nf1 loss of
function in osteo- blasts. J Bone Miner Res. 25:1658–1667. 2010.
View Article : Google Scholar : PubMed/NCBI
|
|
112
|
de la Croix Ndong J, Makowski AJ,
Uppuganti S, Vignaux G, Ono K, Perrien DS, Joubert S, Baglio SR,
Granchi D, Stevenson DA, et al: Asfotase-α improves bone growth,
miner- alization and strength in mouse models of neurofibromatosis
type-1. Nat Med. 20:904–910. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
113
|
O'Donohue AK, Li XC, Lee LR, Vasiljevski
ER, Little DG, Munns CF and Schindeler A: Dietary intervention
rescues a bone porosity phenotype in a murine model of
Neurofibromatosis Type 1 (NF1). PLoS One. 19:e03047782024.
View Article : Google Scholar : PubMed/NCBI
|
|
114
|
Heervä E, Huilaja L, Leinonen P, Peltonen
S and Peltonen J: Follow-up of six patients with neurofibromatosis
1-related osteo- porosis treated with alendronate for 23 months.
Calcif Tissue Int. 94:608–612. 2014. View Article : Google Scholar
|
|
115
|
Schnabel C, Jett K, Friedman JM, Frieling
I, Kruse HP and Mautner V: Effect of vitamin D3 treatment on bone
density in neurofibromatosis 1 patients: A retrospective clinical
study. Joint Bone Spine. 80:315–319. 2013. View Article : Google Scholar
|
|
116
|
Heervä E, Peltonen S, Svedström E, Aro HT,
Väänänen K and Peltonen J: Osteoclasts derived from patients with
neuro- fibromatosis 1 (NF1) display insensitivity to
bisphosphonates in vitro. Bone. 50:798–803. 2012. View Article : Google Scholar
|
|
117
|
Ireland A, Riddell A, Prentice A, Eelloo
J, Mughal MZ and Ward KA: Development of tibia & fibula bone
deficits in chil- dren with neurofibromatosis type I-A longitudinal
case-control comparison. Bone. 154:1161832022. View Article : Google Scholar
|
|
118
|
Zhou Y, Tan Q, Liu K, Liu Y, Zhu G, Mei H
and Yang G: Epidemiological and clinical characteristics of
congenital pseudarthrosis of the tibia in China. Front Pediatr.
10:9439172022. View Article : Google Scholar : PubMed/NCBI
|
|
119
|
Yalikun A, Yushan M, Hamiti Y, Lu C and
Yusufu A: Combination of the Ilizarov method and intramedullary
fixa- tion for the treatment of congenital pseudarthrosis of the
tibia in children: A retrospective observational study. Front Surg.
9:9012622022. View Article : Google Scholar
|
|
120
|
Shannon CE, Huser AJ and Paley D:
Cross-union surgery for congenital pseudarthrosis of the tibia.
Children (Basel). 8:5472021.PubMed/NCBI
|
|
121
|
Li Z, Yu H, Huang Y, Liu Y, Zhu G, Tan Q,
Mei H and Yang G: Analysis of risk factors affecting union and
refracture after combined surgery for congenital pseudarthrosis of
the tibia: A retrospective study of 255 cases. Orphanet J Rare Dis.
17:2452022. View Article : Google Scholar : PubMed/NCBI
|
|
122
|
Al Ramlawi A, Chenard SW, Sidani M,
Herzenberg JE, Schoenecker JG and McClure PK: Congenital
Pseudarthrosis of the tibia: A comprehensive literature review.
JBJS Rev. 13:2025. View Article : Google Scholar : PubMed/NCBI
|
|
123
|
Wakefield SM, Giannoudis VP and Giannoudis
PV: Clavicular bone defects managed with free vascularised fibular
grafting: Evidence to date. Eur J Orthop Surg Traumatol.
33:3307–3318. 2023. View Article : Google Scholar : PubMed/NCBI
|
|
124
|
Katchburian M, Bodansky D and Pickford MA:
Free fibula flap to achieve bone union after congenital
pseudoarthrosis of the forearm in neurofibromatosis: Technical
report based on 3 cases, and literature review. J Plast Reconstr
Aesthet Surg. 95:170–180. 2024. View Article : Google Scholar : PubMed/NCBI
|
|
125
|
El-Gammal TA, Ali AE, Kotb MM, Saleh WR,
Ragheb YF, Refai OA, Morsy MM and El-Gammal YT: Congenital
pseudarthrosis of the tibia: Long-term outcome of treatment with
intramedullary vascularized fibular graft combined with Ilizarov
distraction. J Pediatr Orthop. 43:e487–e492. 2023. View Article : Google Scholar : PubMed/NCBI
|
|
126
|
Morris MT, Tarpada SP and Cho W:
Correction to: Bone graft materials for posterolateral fusion made
simple: A systematic review. Eur Spine J. 30:2410–2411. 2021.
View Article : Google Scholar : PubMed/NCBI
|
|
127
|
Lee DH, Bae BS, Kim SA, Cho ML and Kim SJ:
Autologous collagen-induced chondrogenesis with high tibial
osteotomy for large collapsed steroid-induced osteonecrosis in a
patient with systemic lupus erythematosus: A case report and
literature review. BMC Musculoskelet Disord. 26:7262025. View Article : Google Scholar : PubMed/NCBI
|
|
128
|
Abraham E, Mungalpara NK, Choubey A and
Alvarez J: Confounding association of lower limb hypertrophy with
retarded long bone growth in mosaic somatic neurofibroma- tosis 1-A
genetic review and femoral lengthening treatment. J Am Acad Orthop
Surg Glob Res Rev. 9:e25.000192025.
|
|
129
|
Dastagirzada Y, Neifert S, Kurland DB, Kim
NC, Panicucci-Roma T, Frempong-Boadu A and Lau D: Vertebral column
subluxation in neurofibromatosis type 1-Associated dystrophic
scoliosis: A report of two cases and narrative review. Oper
Neurosurg. 28:762–771. 2025. View Article : Google Scholar : PubMed/NCBI
|
|
130
|
Shao X, Zhang T, Yang J, Deng Y, Huang Z,
Yang J and Sui W: How to select the lowest instrumented vertebra in
NF-1 non-dystrophic scoliosis. Eur Spine J. 32:1153–1160. 2023.
View Article : Google Scholar : PubMed/NCBI
|
|
131
|
Gao R, Bai Y, Zhang X, Cao J, Guo D, Yao Z
and Liu H: Outcomes and safety of traditional growing rod technique
in the treatment of Early-onset dystrophic scoliosis secondary to
Type 1 neurofibromatosis with intraspinal rib head dislocation in
Children. J Pediatr Orthop. 43:e223–e229. 2023. View Article : Google Scholar
|
|
132
|
Cai S, Cui L, Qiu G, Shen J and Zhang J:
Comparison between surgical fusion and the growing-rod technique
for early-onset neurofibromatosis type-1 dystrophic scoliosis. BMC
Musculoskelet Disord. 21:4552020. View Article : Google Scholar : PubMed/NCBI
|
|
133
|
Xu E, Gao R, Jiang H, Lin T, Shao W and
Zhou X: Combined halo gravity traction and dual growing rod
technique for the treatment of early onset dystrophic scoliosis in
neurofibroma- tosis type 1. World Neurosurg. 126:e173–e180. 2019.
View Article : Google Scholar
|
|
134
|
Wu J, Tao Z, Jiang H, Lin T, Ma J, Zhou X
and Wang C: A novel hybrid technique in the treatment of dystrophic
scoliosis secondary to neurofibromatosis type 1 lacking pedicles in
the apical area. World Neurosurg. 169:e171–e180. 2023. View Article : Google Scholar
|
|
135
|
Zhao J, Meng Y, Ma J, Zhou X and Jiang H:
Sectional correction technique in dystrophic scoliosis secondary to
neurofibroma- tosis type 1: A comparison with traditional 2-rod
correction technique. World Neurosurg. 167:e507–e514. 2022.
View Article : Google Scholar
|
|
136
|
Wang Z, Fu C, Leng J, Qu Z, Xu F and Liu
Y: Treatment of dystrophic scoliosis in neurofibromatosis Type 1
with one-stage posterior pedicle screw technique. Spine J.
15:587–595. 2015. View Article : Google Scholar
|
|
137
|
Lo YS, Dai YT, Qiu Y, Lin EE, Hsieh HL,
Wei XP, Tsai CH, Fong YC, Chen HT, Tzeng ST, et al: Three-column
osteotomy versus Halo-gravity traction combined with posterior
column osteotomy in the treatment of dystrophic neurofibromatosis
type 1 kyphoscoliosis: A retrospective comparative cohort study. J
Orthop Surg Res. 20:4702025. View Article : Google Scholar : PubMed/NCBI
|
|
138
|
Balaji A, Toga A, Kano J, Fujimaru A,
Matsumoto T and Katoh S: Unicompartmental knee arthroplasty for
severe osteo- arthritis and pseudarthrosis in a patient with
neurofibromatosis. Orthop Res Rev. 13:63–71. 2021.
|
|
139
|
Leskelä HV, Kuorilehto T, Risteli J,
Koivunen J, Nissinen M, Peltonen S, Kinnunen P, Messiaen L,
Lehenkari P and Peltonen J: Congenital pseudarthrosis of
neurofibromatosis type 1: Impaired osteoblast differentiation and
function and altered NF1 gene expression. Bone. 44:243–250. 2009.
View Article : Google Scholar
|
|
140
|
Li Z, Mei H, Liu K and Yang G:
Differential expression and effect analysis of lncRNA-mRNA in
congenital pseudarthrosis of the tibia. Front Genet.
14:10942982023. View Article : Google Scholar : PubMed/NCBI
|
|
141
|
Li S, Wu Z, Ma Y, Zhu Y, Feng Z, Zhu Z,
Qiu Y and Mao S: Differential gene expression profiles and pathways
highlight the role of osteoimmunology in neurofibromatosis type
1-Related dystrophic scoliosis with osteopenia. Spine (Phila Pa
1976). 48:1588–1598. 2023. View Article : Google Scholar : PubMed/NCBI
|
|
142
|
Ram T, Singh AK, Kumar A, Singh H, Pathak
P, Grishina M, Khalilullah H, Jaremko M, Emwas AH, Verma A, et al:
MEK inhibitors in cancer treatment: Structural insights,
regulation, recent advances and future perspectives. RSC Med Chem.
14:1837–1857. 2023. View Article : Google Scholar : PubMed/NCBI
|
|
143
|
Richards BS and Anderson TD: rhBMP-2 and
intramedullary fixation in congenital pseudarthrosis of the tibia.
J Pediatr Orthop. 38:230–238. 2018. View Article : Google Scholar
|