Growth plate extracellular matrix defects and short stature in children

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참고문헌 (94)

1. Bang P, "Statement 3 : a low serum IGF-I level in idiopathic short stature patients indicates partial GH insensitivity", Pediatr Endocrinol Rev, 5(Suppl 3), pp.841~846 (2008)
2. Patel R, "Predictive value of IAP 2015, IAP 2007 and WHO growth charts in identifying pathological short stature", Indian Pediatr, 58, pp.149~151 (2021)
3. Chiarelli F, "Evaluation and management of a child with short stature", Minerva Pediatr, 72, pp.452~461 (2020)
4. Shanna Yue, "Genetic regulation of linear growth", Annals of Pediatric Endocrinology & Metabolism, 24(1), pp.2~14 (2019), 대한소아내분비학회
5. Nilsson O, "Endocrine regulation of the growth plate", Horm Res, 64, pp.157~165 (2005)
6. Chen H, "Molecular mechanisms of chondrocyte proliferation and differentiation", Front Cell Dev Biol, 9, pp.664168~ (2021)
7. Tsang KY, "The chondrocytic journey in endochondral bone growth and skeletal dysplasia", Birth Defects Res C Embryo Today, 102, pp.52~73 (2014)
8. Faienza MF, "Growth plate gene involvement and isolated short stature", Endocrine, 71, pp.28~34 (2021)
9. Schwartz NB, "Chondrodysplasias due to proteoglycan defects", Glycobiology, 12, pp.57R~68R (2002)
10. Cortes M, "Sulfation of chondroitin sulfate proteoglycans is necessary for proper Indian hedgehog signaling in the developing growth plate", Development, 136, pp.1697~1706 (2009)
11. Rellmann Y, "Different forms of ER stress in chondrocytes result in short stature disorders and degenerative cartilage diseases : new insights by cartilagespecific ERp57 knockout mice", Oxid Med Cell Longev, 2018, pp.8421394~ (2018)
12. Patterson SE, "Mechanisms and models of endoplasmic reticulum stress in chondrodysplasia", Dev Dyn, 243, pp.875~893 (2014)
13. Krakow D, "Skeletal dysplasias", Clin Perinatol, 42, pp.301~319 (2015)
14. Krakow D, "The skeletal dysplasias", Genet Med, 12, pp.327~341 (2010)
15. Myllyharju J, "Collagens and collagen-related diseases", Ann Med, 33, pp.7~21 (2001)
16. Lian C, "Collagen type II suppresses articular chondrocyte hypertrophy and osteoarthritis progression by promoting integrin β1-SMAD1 interaction", Bone Res, 7, pp.8~ (2019)
17. Antipova O, "In situ D-periodic molecular structure of type II collagen", J Biol Chem, 285, pp.7087~7096 (2010)
18. Prein C, "Structural and mechanical properties of the proliferative zone of the developing murine growth plate cartilage assessed by atomic force microscopy", Matrix Biol, 50, pp.1~15 (2016)
19. Chung HJ, "R992C (p.R1192C) Substitution in collagen II alters the structure of mutant molecules and induces the unfolded protein response", J Mol Biol, 390, pp.306~318 (2009)
20. Rajpar MH, "Targeted induction of endoplasmic reticulum stress induces cartilage pathology", PLoS Genet, 5, pp.e1000691~ (2009)
21. Bateman JF, "Tissuespecific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage", Hum Mol Genet, 12, pp.217~225 (2003)
22. Pihlajamaa T, "Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule", Matrix Biol, 17, pp.237~241 (1998)
23. Czarny-Ratajczak M, "A mutation in COL9A1 causes multiple epiphyseal dysplasia : further evidence for locus heterogeneity", Am J Hum Genet, 69, pp.969~980 (2001)
24. Unger S, "Multiple epiphyseal dysplasia : clinical and radiographic features, differential diagnosis and molecular basis", Best Pract Res Clin Rheumatol, 22, pp.19~32 (2008)
25. Haga N, "Stature and severity in multiple epiphyseal dysplasia", J Pediatr Orthop, 18, pp.394~397 (1998)
26. Plumb DA, "Collagen XXVII organises the pericellular matrix in the growth plate", PLoS One, 6, pp.e29422~ (2011)
27. Hjorten R, "Type XXVII collagen at the transition of cartilage to bone during skeletogenesis", Bone, 41, pp.535~542 (2007)
28. Li Y, "A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis", Cell, 80, pp.423~430 (1995)
29. Van Camp G, "A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene", Am J Hum Genet, 79, pp.449~457 (2006)
30. Annunen S, "Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall", Stickler phenotypes, 1999, pp.65, 974~983
31. Griffith AJ, "Marshall syndrome associated with a splicing defect at the COL11A1 locus", Am J Hum Genet, 62, pp.816~823 (1998)
32. Tompson SW, "Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene", Am J Hum Genet, 87, pp.708~712 (2010)
33. Pace JM, "Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1", Matrix Biol, 22, pp.3~14 (2003)
34. Kotabagi S, "Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1", Clin Genet, 92, pp.323~326 (2017)
35. Gariballa N, "A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss", Am J Med Genet A, 173, pp.1257~1263 (2017)
36. Evie Kritioti, "First reported case of Steel syndrome in the European population : a novel homozygous mutation in COL27A1 and review of the literature", Eur J Med Genet, 63, pp.103939~ (2020)
37. Sakai LY, "FBN1 : the disease-causing gene for Marfan syndrome and other genetic disorders", Gene, 591, pp.279~291 (2016)
38. Sakai LY, "Fibrillin protein pleiotropy : acromelic dysplasias", Matrix Biol, 80, pp.6~13 (2019)
39. Robertson IB, "Latent TGF-β-binding proteins", Matrix Biol, 47, pp.44~53 (2015)
40. Cecchi A, "Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome", Am J Med Genet A, 161A, pp.2305~2310 (2013)
41. Cook JR, "Clinical, diagnostic, and therapeutic aspects of the Marfan syndrome", Adv Exp Med Biol, 802, pp.77~94 (2014)
42. Le GoffC, "From tall to short: the role of TGFβ signaling in growth and its disorders", Am J Med Genet C Semin Med Genet, 160C, pp.145~153 (2012)
43. Faivre L, "In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome", J Med Genet, 40, pp.34~36 (2003)
44. Le GoffC, "Mutations in the TGFβ binding-proteinlike domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias", Am J Hum Genet, 89, pp.7~14 (2011)
45. Sengle G, "Microenvironmental regulation by fibrillin-1", PLoS Genet, 8, pp.e1002425~ (2012)
46. Al Motawa MNA, "Weill-Marchesani syndrome, a rare presentation of severe short stature with review of the literature", Am J Case Rep, 22, pp.e930824~ (2021)
47. Marzin P, (2020), University of Washington
48. Allali S, "Molecular screening of ADAMTSL2gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia", J Med Genet, 48, pp.417~421 (2011)
49. Globa E, "The clinical cases of geleophysic dysplasia : one gene, different phenotypes", Case Rep Endocrinol, 2018, pp.8212417~ (2018)
50. Kochhar A, "Similarity of geleophysic dysplasia and weill-marchesani syndrome", Am J Med Genet A, 161A, pp.3130~3132 (2013)
51. Legare JM, "Geleophysic dysplasia : 48 year clinical update with emphasis on cardiac care", Am J Med Genet A, 176, pp.2237~2242 (2018)
52. Roughley PJ, "The role of aggrecan in normal and osteoarthritic cartilage", J Exp Orthop, 1, pp.8~ (2014)
53. Hauer NN, "Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature", Sci Rep, 7, pp.12225~ (2017)
54. Gkourogianni A, "Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations", J Clin Endocrinol Metab, 102, pp.460~469 (2017)
55. Gibson BG, "The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases", Orphanet J Rare Dis, 11, pp.86~ (2016)
56. Tompson SW, "A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan", Am J Hum Genet, 84, pp.72~79 (2009)
57. Sentchordi-Montané L, "Heterozygous aggrecan variants are associated with short stature and brachydactyly : description of 16 probands and a review of the literature", Clin Endocrinol(Oxf), 88, pp.820~829 (2018)
58. Anderson IJ, "Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen", Am J Med Genet, 37, pp.272~276 (1990)
59. Gleghorn L, "A mutation in the variable repeat region of the aggrecan gene(AGC1)causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis", Am J Hum Genet, 77, pp.484~490 (2005)
60. Posey KL, "The role of cartilage oligomeric matrix protein(COMP)in skeletal disease", Curr Drug Targets, 9, pp.869~877 (2008)
61. Bornstein P, "Matricellular proteins : extracellular modulators of cell function", Curr Opin Cell Biol, 14, pp.608~616 (2002)
62. Adams JC, "The thrombospondins", Cold Spring Harb Perspect Biol, 3, pp.a009712~ (2011)
63. Xu K, "Cartilage oligomeric matrix protein associates with granulin-epithelin precursor(GEP)and potentiates GEP-stimulated chondrocyte proliferation", J Biol Chem, 282, pp.11347~11355 (2007)
64. Posey KL, "Cartilage oligomeric matrix protein : COMPopathies and beyond", Matrix Biology, 71-72, pp.161~173 (2018)
65. Müller G, "COMP(Cartilage Oligomeric Matrix Protein)is synthesized in ligament, tendon, meniscus, and articular cartilage", Connect Tissue Res, 39, pp.233~244 (1998)
66. Unger S, "Pseudoachondroplasia and multiple epiphyseal dysplasia : new etiologic developments", Am J Med Genet, 106, pp.244~250 (2001)
67. Briggs MD, "Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias", Eur J Hum Genet, 22, pp.1278~1282 (2014)
68. Jackson GC, "Pseudoachondroplasia and multiple epiphyseal dysplasia : a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution", Hum Mutat, 33, pp.144~157 (2012)
69. Posey KL, "Role of TSP-5", COMP in pseudoachondroplasia, 2004, pp.36, 1005~1012
70. Mortier GR, "Nosology and classification of genetic skeletal disorders : 2019 revision", Am J Med Genet A, 179, pp.2393~2419 (2019)
71. Gamble C, "Pseudoachondroplasia and painful sequelae", Am J Med Genet A, 167A, pp.2618~2622 (2015)
72. Briggs MD, "GeneReviewsⓇ" (2022), University of Washington
73. Klatt AR, "The matrilins : modulators of extracellular matrix assembly", Int J Biochem Cell Biol, 43, pp.320~330 (2011)
74. Klatt AR, "Molecular structure and tissue distribution of matrilin-3, a filament-forming extracellular matrix protein expressed during skeletal development", J Biol Chem, 275, pp.3999~4006 (2000)
75. Wagener R, "The matrilins-adaptor proteins in the extracellular matrix", FEBS Lett, 579, pp.3323~3329 (2005)
76. Pei M, "Enhancing and maintaining chondrogenesis of synovial fibroblasts by cartilage extracellular matrix protein matrilins", Osteoarthritis Cartilage, 16, pp.1110~1117 (2008)
77. Briggs MD, "Pseudoachondroplasia and multiple epiphyseal dysplasia : mutation review, molecular interactions, and genotype to phenotype correlations", Hum Mutat, 19, pp.465~478 (2002)
78. Posey KL, "Thrombospondins : from structure to therapeutics", Cell Mol Life Sci, 65, pp.669~671 (2008)
79. Nundlall S, "An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia", Cell Stress Chaperones, 15, pp.835~849 (2010)
80. Leighton MP, "Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation", Hum Mol Genet, 16, pp.1728~1741 (2007)
81. Wang LW, "Adamts10 inactivation in mice leads to persistence of ocular microfibrils subsequent to reduced fibrillin-2 cleavage", Matrix Biol, 77, pp.117~128 (2019)
82. Mularczyk EJ, "ADAMTS10-mediated tissue disruption in Weill–Marchesani syndrome", Hum Mol Genet, 27, pp.3675~3687 (2018)
83. Apte SS, "A disintegrin-like and metalloprotease(reprolysintype)with thrombospondin type 1 motif(ADAMTS)superfamily : functions and mechanisms", J Biol Chem, 284, pp.31493~31497 (2009)
84. Faivre L, "Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome", Am J Med Genet A, 123A, pp.204~207 (2003)
85. Khan AO, "Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation", Ophthalmic Genet, 33, pp.235~239 (2012)
86. Gudbjartsson DF, "Many sequence variants affecting diversity of adult human height", Nat Genet, 40, pp.609~615 (2008)
87. Hyytiäinen M, "Recombinant latent transforming growth factor β-binding protein 2 assembles to fibroblast extracellular matrix and is susceptible to proteolytic processing and release", J Biol Chem, 273, pp.20669~20676 (1998)
88. Parsi MK, "LTBP-2 has multiple heparin", heparan sulfate binding sites, 2010, pp.29, 393~401
89. Lewis CJ, "Primary congenital and developmental glaucomas", Hum Mol Genet, 26(R1), pp.R28~R36 (2017)
90. Haji-Seyed-Javadi R, "LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix", Hum Mutat, 33, pp.1182~1187 (2012)
91. CadoffEB, "Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia", Clin Genet, 94, pp.429~437 (2018)
92. Costantini A, "Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”", Bone, 121, pp.163~171 (2019)
93. Lee CS, "Mutations in fibronectin cause a subtype of spondylometaphyseal dysplasia with “corner fractures”", Am J Hum Genet, 101, pp.815~823 (2017)
94. England J, "GeneReviewsⓇ" (2022), University of Washington

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