-
1
-
-
0028149705
-
Elastin production and degradation in cutis laxa acquisita
-
Fornieri C, Quaglino D, Lungarella G. Elastin production and degradation in cutis laxa acquisita. J Invest Dermatol 1994, 103:583-588.
-
(1994)
J Invest Dermatol
, vol.103
, pp. 583-588
-
-
Fornieri, C.1
Quaglino, D.2
Lungarella, G.3
-
2
-
-
35948999623
-
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa
-
Dasouki M, Markova D, Garola R. Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. Am J Med Genet A 2007, 143:2635-2641.
-
(2007)
Am J Med Genet A
, vol.143
, pp. 2635-2641
-
-
Dasouki, M.1
Markova, D.2
Garola, R.3
-
3
-
-
33646896247
-
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome
-
Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z. Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet 2006, 78:1075-1080.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 1075-1080
-
-
Hucthagowder, V.1
Sausgruber, N.2
Kim, K.H.3
Angle, B.4
Marmorstein, L.Y.5
Urban, Z.6
-
4
-
-
0036713921
-
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa
-
Loeys B, Van Maldergem L, Mortier G. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet 2002, 11:2113-2118.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2113-2118
-
-
Loeys, B.1
Van Maldergem, L.2
Mortier, G.3
-
5
-
-
33745193923
-
Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype
-
Elahi E, Kalhor R, Banihosseini SS. Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. J Invest Dermatol 2006, 126:1506-1509.
-
(2006)
J Invest Dermatol
, vol.126
, pp. 1506-1509
-
-
Elahi, E.1
Kalhor, R.2
Banihosseini, S.S.3
-
6
-
-
0030778814
-
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies
-
Hayward C, Brock DJ. Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies. Hum Mutat 1997, 10:415-423.
-
(1997)
Hum Mutat
, vol.10
, pp. 415-423
-
-
Hayward, C.1
Brock, D.J.2
-
7
-
-
0032703916
-
Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4
-
Giltay R, Timpl R, Kostka G. Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4. Matrix Biol 1999, 18:469-480.
-
(1999)
Matrix Biol
, vol.18
, pp. 469-480
-
-
Giltay, R.1
Timpl, R.2
Kostka, G.3
-
8
-
-
33644535118
-
Fibulin-4 is a target of autoimmunity predominantly in patients with osteoarthritis
-
Xiang Y, Sekine T, Nakamura H. Fibulin-4 is a target of autoimmunity predominantly in patients with osteoarthritis. J Immunol 2006, 176:3196-3204.
-
(2006)
J Immunol
, vol.176
, pp. 3196-3204
-
-
Xiang, Y.1
Sekine, T.2
Nakamura, H.3
-
9
-
-
33947713016
-
Perturbations of vascular homeostasis and aortic valve abnormalities in fibulin-4 deficient mice
-
Hanada K, Vermeij M, Garinis GA. Perturbations of vascular homeostasis and aortic valve abnormalities in fibulin-4 deficient mice. Circ Res 2007, 100:738-746.
-
(2007)
Circ Res
, vol.100
, pp. 738-746
-
-
Hanada, K.1
Vermeij, M.2
Garinis, G.A.3
-
10
-
-
28244441145
-
Marfan's syndrome
-
Judge DP, Dietz HC. Marfan's syndrome. Lancet 2005, 366:1965-1976.
-
(2005)
Lancet
, vol.366
, pp. 1965-1976
-
-
Judge, D.P.1
Dietz, H.C.2
-
11
-
-
20144367207
-
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
-
Loeys BL, Chen J, Neptune ER. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005, 37:275-281.
-
(2005)
Nat Genet
, vol.37
, pp. 275-281
-
-
Loeys, B.L.1
Chen, J.2
Neptune, E.R.3
-
12
-
-
43749097041
-
A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.
-
Claus S, Fischer J, Megarbane H. A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. J Invest Dermatol 2008, 128:1442-1450.
-
(2008)
J Invest Dermatol
, vol.128
, pp. 1442-1450
-
-
Claus, S.1
Fischer, J.2
Megarbane, H.3
-
13
-
-
38049097648
-
Fibulin-5 is involved in phlebosclerosis of major portal vein branches associated with elastic fiber deposition in idiopathic portal hypertension
-
Sato Y, Sawada S, Nakanuma Y. Fibulin-5 is involved in phlebosclerosis of major portal vein branches associated with elastic fiber deposition in idiopathic portal hypertension. Hepatol Res 2008, 38:166-173.
-
(2008)
Hepatol Res
, vol.38
, pp. 166-173
-
-
Sato, Y.1
Sawada, S.2
Nakanuma, Y.3
-
14
-
-
33644513391
-
Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice
-
McLaughlin PJ, Chen Q, Horiguchi M. Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice. Mol Cell Biol 2006, 26:1700-1709.
-
(2006)
Mol Cell Biol
, vol.26
, pp. 1700-1709
-
-
McLaughlin, P.J.1
Chen, Q.2
Horiguchi, M.3
-
15
-
-
34249661138
-
A comparative analysis of the fibulin protein family. Biochemical characterization, binding interactions, and tissue localization.
-
Kobayashi N, Kostka G, Garbe JH. A comparative analysis of the fibulin protein family. Biochemical characterization, binding interactions, and tissue localization. J Biol Chem 2007, 282:11805-11816.
-
(2007)
J Biol Chem
, vol.282
, pp. 11805-11816
-
-
Kobayashi, N.1
Kostka, G.2
Garbe, J.H.3
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