Transforming Growth Factor Beta and Bone: Lessons Learned from TGFbeta- Related Conditions - Osteogenesis Imperfecta - page 194

References
[1] Feng XH, Derynck R. Speciicity and versatility in tgf-beta sig-
naling through Smads. Annu Rev Cell Dev Biol 2005;21:659-93.
[2] Nistala H, Lee-Arteaga S, Siciliano G, Smaldone S, Ramirez F.
Extracellular regulation of transforming growth factor beta and
bone morphogenetic protein signaling in bone. Ann N Y Acad
Sci 2010;1192:253-6.
[3] Le Goff C, Cormier-Daire V. From tall to short: the role of
TGFbeta signaling in growth and its disorders. Am J Med Genet
C Semin Med Genet 2012;160C(3):145-53.
[4] Isogai Z, Ono RN, Ushiro S, et al. Latent transforming growth
factor beta-binding protein 1 interacts with ibrillin and is a
microibril-associated protein. J Biol Chem 2003;278(4):2750-7.
[5] Moustakas A, Heldin CH. Dynamic control of TGF-beta signaling
and its links to the cytoskeleton. FEBS Lett 2008;582(14):2051-65.
[6] Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome
caused by a recurrent de novo missense mutation in the ibrillin
gene. Nature 1991;352(6333):337-9.
[7] Judge DP, Dietz HC. Marfan's syndrome. Lancet 2005;
366(9501):1965-76.
[8] Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of
TGF-beta activation contributes to pathogenesis in Marfan syn-
drome. Nat Genet 2003;33(3):407-11.
[9] Ng CM, Cheng A, Myers LA, et al. TGF-beta-dependent patho-
genesis of mitral valve prolapse in a mouse model of Marfan
syndrome. J Clin Invest 2004;114(11):1586-92.

[20] van de Laar IM, Oldenburg RA, Pals G, et al. Mutations in

SMAD3 cause a syndromic form of aortic aneurysms and dissec-
tions with early-onset osteoarthritis. Nat Genet 2011;43(2):121-6.

[21] van de Laar IM, van der Linde D, Oei EH, et al. Phenotypic

spectrum of the SMAD3-related aneurysms-osteoarthritis syn-
drome. J Med Genet 2012;49(1):47-57.

[22] Lindsay ME, Schepers D, Bolar NA, et al. Loss-of-function

mutations in TGFB2 cause a syndromic presentation of thoracic
aortic aneurysm. Nat Genet 2012;44(8):922-7.

[23] Janssens K, Vanhoenacker F, Bonduelle M, et al. Camurati-

Engelmann disease: review of the clinical, radiological, and
molecular data of 24 families and implications for diagnosis and
treatment. J Med Genet 2006;43(1):1-11.

[24] Janssens K, Gershoni-Baruch R, Guanabens N, et al. Mutations in

the gene encoding the latency-associated peptide of TGF-beta 1
cause Camurati-Engelmann disease. Nat Genet 2000;26(3):273-5.

[25] Doyle AJ, Doyle JJ, Bessling SL, et al. Mutations in the TGF-beta

repressor SKI cause Shprintzen-Goldberg syndrome with aortic
aneurysm. Nat Genet 2012;44(11):1249-54.

[26] Putnam EA, Zhang H, Ramirez F, Milewicz DM. Fibrillin-2

(FBN2) mutations result in the Marfan-like disorder, congenital
contractural arachnodactyly. Nat Genet 1995;11(4):456-8.

[27] Warman ML, Cormier-Daire V, Hall C, et al. Nosology and clas-

siication of genetic skeletal disorders: 2010 revision. Am J Med
Genet A 2011;155A(5):943-68.

[28] Le Goff C, Mahaut C, Wang LW, et al. Mutations in the TGFbeta

binding-protein-like domain 5 of FBN1 are responsible for
acromicric and geleophysic dysplasias. Am J Hum Genet
2011;89(1):7-14.

[10] Cohn RD, van Erp C, Habashi JP, et al. Angiotensin II type

1 receptor blockade attenuates TGF-beta-induced failure of
muscle regeneration in multiple myopathic states. Nat Med
2007;13(2):204-10.

[29] Le Goff C, Morice-Picard F, Dagoneau N, et al. ADAMTSL2

mutations in geleophysic dysplasia demonstrate a role for
ADAMTS-like proteins in TGF-beta bioavailability regulation.
Nat Genet 2008;40(9):1119-23.

[11] Habashi JP, Judge DP, Holm TM, et al. Losartan, an AT1 antago-

nist, prevents aortic aneurysm in a mouse model of Marfan syn-
drome. Science 2006;312(5770):117-21.

[30] Le Goff C, Cormier-Daire V. The ADAMTS(L) family and

human genetic disorders. Hum Mol Genet 2011;20(R2):R163-7.

[12] Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered car-

diovascular, craniofacial, neurocognitive and skeletal develop-
ment caused by mutations in TGFBR1 or TGFBR2. Nat Genet
2005;37(3):275-81.

[31] Dagoneau N, Benoist-Lasselin C, Huber C, et al. ADAMTS10

mutations in autosomal recessive Weill-Marchesani syndrome.
Am J Hum Genet 2004;75(5):801-6.

[13] Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes

caused by mutations in the TGF-beta receptor. N Engl J Med
2006;355(8):788-98.

[32] Loeys BL, Gerber EE, Riegert-Johnson D, et al. Mutations in

ibrillin-1 cause congenital scleroderma: stiff skin syndrome. Sci
Transl Med 2010;2(23):23ra0.

[14] Mizuguchi T, Collod-Beroud G, Akiyama T, et al. Heterozygous

TGFBR2 mutations in Marfan syndrome. Nat Genet 2004;
36(8):855-60.

[33] Le Goff C, Mahaut C, Abhyankar A, et al. Mutations at a single

codon in Mad homology 2 domain of SMAD4 cause Myhre syn-
drome. Nat Genet 2012;44(1):85-8.

[15] Tran-Fadulu V, Pannu H, Kim DH, et al. Analysis of multigenera-

tional families with thoracic aortic aneurysms and dissections due
to TGFBR1 or TGFBR2 mutations. J Med Genet 2009;46(9):607-13.

[34] Hellemans J, Preobrazhenska O, Willaert A, et al. Loss-of-function

mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff
syndrome and melorheostosis. Nat Genet 2004;36(11):1213-8.

[16] Giampietro PF, Peterson M, Schneider R, et al. Assessment of

bone mineral density in adults and children with Marfan syn-
drome. Osteoporos Int 2003;14(7):559-63.

[35] Kitahama S, Gibson MA, Hatzinikolas G, et al. Expression of

ibrillins and other microibril-associated proteins in human
bone and osteoblast-like cells. Bone 2000;27(1):61-7.

[17] Giampietro PF, Peterson MG, Schneider R, et al. Bone mineral

density determinations by dual-energy x-ray absorptiometry in
the management of patients with Marfan syndrome-some fac-
tors which affect the measurement. HSS J 2007;3(1):89-92.

[36] Arteaga-Solis E, Gayraud B, Lee SY, Shum L, Sakai L, Ramirez F.

Regulation of limb patterning by extracellular microibrils. J Cell
Biol 2001;154(2):275-81.

[37] Nistala H, Lee-Arteaga S, Smaldone S, et al. Fibrillin-1 and -2 dif-

ferentially modulate endogenous TGF-beta and BMP bioavail-
ability during bone formation. J Cell Biol 2010;190(6):1107-21.

[18] Kirmani S, Tebben PJ, Lteif AN, et al. Germline TGF-beta recep-

tor mutations and skeletal fragility: a report on two patients with
Loeys-Dietz syndrome. Am J Med Genet A 2010;152A(4):1016-9.

[38] Nistala H, Lee-Arteaga S, Smaldone S, Siciliano G, Ramirez F.

Extracellular microibrils control osteoblast-supported osteo-
clastogenesis by restricting TGF{beta} stimulation of RANKL
production. J Biol Chem 2010;285(44):34126-34133.

[19] Ben Amor IM, Edouard T, Glorieux FH, et al. Low bone mass

and high material bone density in two patients with Loeys-
Dietz syndrome caused by transforming growth factor beta
receptor 2 mutations. J Bone Miner Res 2012;27(3):713-8.