Genetic regulation of linear growth

키워드

참고문헌 (115)

1. Lango Allen H, "Hundreds of variants clustered in genomic loci and biological pathways affect human height", Nature, 467, pp.832~838 (2010)
2. Chan Y, "Genome-wide analysis of body propor-tion classifies height-associated variants by mechanism of action and implicates genes important for skeletal development", Am J Hum Genet, 96, pp.695~708 (2015)
3. Marouli E, "Rare and low-frequency coding variants alter human adult height", Nature, 542, pp.186~190 (2017)
4. Baron J, "Short and tall stature: a new paradigm emerges", Nat Rev Endocrinol, 11, pp.735~746 (2015)
5. Lui JC, "Synthesizing genome-wide association studies and expression microarray reveals novel genes that act in the human growth plate to modulate height", Hum Mol Genet, 21, pp.5193~5201 (2012)
6. 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)
7. Nilsson O, "Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations", J Clin Endocrinol Metab, 99, pp.E1510~E1518 (2014)
8. Kronenberg HM, "Developmental regulation of the growth plate", Nature, 423, pp.332~336 (2003)
9. Lui JC, "Spatial and temporal regulation of gene expression in the mammalian growth plate", Bone, 46, pp.1380~1390 (2010)
10. Melrose J, "The cartilage extracellular matrix as a transient developmental scaffold for growth plate maturation", Matrix Biol, 52, pp.363~383 (2016)
11. Myllyharju J, "Extracellular matrix and developing growth plate", Curr Osteoporos Rep, 12, pp.439~445 (2014)
12. 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)
13. Lauing KL, "Aggrecan is required for growth plate cytoarchitecture and differentiation", Dev Biol, 396, pp.224~236 (2014)
14. Tatsi C, "Aggrecan mutations in nonfamilial short stature and short stature without accelerated skeletal maturation", J Endocr Soc, 1, pp.1006~1011 (2017)
15. 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)
16. Stattin EL, "A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans", Am J Hum Genet, 86, pp.126~137 (2010)
17. Hauer NN, "Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature", Sci Rep, 7, pp.12225~ (2017)
18. Lynn Y. Sakai, "Fibrillin protein pleiotropy: Acromelic dysplasias", Matrix Biology, 80, pp.6~13 (2019), Elsevier BV[DOI]
19. 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)
20. Kojuri J, "Cardiac findings in Weill-Marchesani syndrome", Am J Med Genet A, 143A, pp.2062~2064 (2007)
21. Grau U, "A novel mutation in the neonatal region of the fibrillin (FBN)1 gene associated with a classical phenotype of Marfan syndrome (MfS). Mutations in brief no. 163. Online", Hum Mutat, 12, pp.137~ (1998)
22. Cook JR, "Clinical, diagnostic, and therapeutic aspects of the Marfan syndrome", Adv Exp Med Biol, 802, pp.77~94 (2014)
23. Park JW, "Recapitulating and correcting Marfan syndrome in a cellular model", Int J Biol Sci, 13, pp.588~603 (2017)
24. Cecchi A, "Missense mutations in FBN1 exons 41and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome", Am J Med Genet A, 161A, pp.2305~2310 (2013)
25. Putnam EA, "Fibrillin-2(FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly", Nat Genet, 11, pp.456~458 (1995)
26. Malemud CJ, "Matrix metalloproteinases: role in skeletal development and growth plate disorders", Front Biosci, 11, pp.1702~1715 (2006)
27. de Vos IJ, "Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype", Hum Mol Genet, 27, pp.2775~2788 (2018)
28. Shah MH, "Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome", Mol Vis, 20, pp.790~796 (2014)
29. Morales J, "Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature", Am J Hum Genet, 85, pp.558~568 (2009)
30. Hubmacher D, "ADAMTS proteins as modulators of microfibril formation and function", Matrix Biol, 47, pp.34~43 (2015)
31. Zaucke F, "Genetic mouse models for the functional analysis of the perifibrillar components collagen IX, COMP and matrilin-3: Implications for growth cartilage differentiation and endochondral ossification", Histol Histopathol, 24, pp.1067~1079 (2009)
32. Plumb DA, "Collagen XXVII organises the pericellular matrix in the growth plate", PLoS One, 6, pp.e29422~ (2011)
33. Hjorten R, "Type XXVII collagen at the transition of cartilage to bone during skeletogenesis", Bone, 41, pp.535~542 (2007)
34. Li Y, "A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis", Cell, 80, pp.423~430 (1995)
35. 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)
36. Majava M, "A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies", Am J Med Genet A, 143A, pp.258~264 (2007)
37. 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
38. Griffith AJ, "Marshall syndrome associated with a splicing defect at the COL11A1 locus", Am J Hum Genet, 62, pp.816~823 (1998)
39. Tompson SW, "Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene", Am J Hum Genet, 87, pp.708~712 (2010)
40. 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)
41. Kotabagi S, "Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1", Clin Genet, 92, pp.323~326 (2017)
42. Gonzaga-Jauregui C, "Mutations in COL27A1cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population", Eur J Hum Genet, 23, pp.342~346 (2015)
43. Jackson GC, "Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy", Am J Med Genet A, 152A, pp.863~869 (2010)
44. Baker S, "A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome", Am J Med Genet A, 155A, pp.1668~1672 (2011)
45. Mäkitie O, "Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3mutations: description of 12 patients", Am J Med Genet A, 125A, pp.278~284 (2004)
46. Baker S, "A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome", Am J Med Genet A, 155A, pp.1668~1672 (2011)
47. Borochowitz ZU, "Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD", J Med Genet, 41, pp.366~372 (2004)
48. Wagner T, "Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9", Cell, 79, pp.1111~1120 (1994)
49. Foster JW, "Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene", Nature, 372, pp.525~530 (1994)
50. Abou-Samra AB, "Expression cloning of a common receptor for parathyroid hormone and parathyroid hormone-related peptide from rat osteoblast-like cells:a single receptor stimulates intracellular accumulation of both cAMP and inositol trisphosphates and increases intracellular free calcium", Proc Natl Acad Sci U S A, 89, pp.2732~2736 (1992)
51. Singh AT, "G alpha12", G alpha13 subunits of heterotrimeric G proteins mediate parathyroid hormone activation of phospholipase D in UMR-106 osteoblastic cells, 2005, pp.146, 2171~2175
52. Turan S, "GNAS spectrum of disorders", Curr Osteoporos Rep, 13, pp.146~158 (2015)
53. Mantovani G, "Mutations in the Gs alpha gene causing hormone resistance", Best Pract Res Clin Endocrinol Metab, 20, pp.501~513 (2006)
54. Roelfsema JH, "Rubinstein-Taybi syndrome:clinical and molecular overview", Expert Rev Mol Med, 9, pp.1~16 (2007)
55. Hennekam RC, "Rubinstein-Taybi syndrome", Eur J Hum Genet, 14, pp.981~985 (2006)
56. Maass PG, "PDE3A mutations cause autosomal dominant hypertension with brachydactyly", Nat Genet, 47, pp.647~653 (2015)
57. Boda H, "A PDE3A mutation in familial hypertension and brachydactyly syndrome", J Hum Genet, 61, pp.701~703 (2016)
58. Vortkamp A, "Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein", Science, 273, pp.613~622 (1996)
59. Vasques GA, "IHH Gene Mutations causing short stature with nonspecific skeletal abnormalities and response to growth hormone therapy", J Clin Endocrinol Metab, 103, pp.604~614 (2018)
60. Gao B, "Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1", Nat Genet, 28, pp.386~388 (2001)
61. Hellemans J, "Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips", Am J Hum Genet, 72, pp.1040~1046 (2003)
62. Klopocki E, "Deletion and point mutations of PTHLH cause brachydactyly type E", Am J Hum Genet, 86, pp.434~439 (2010)
63. Zhang P, "A homozygous inactivating mutation in the parathyroid hormone", parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia, 1998, pp.83, 3365~3368
64. Schipani E, "A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia", Science, 268, pp.98~100 (1995)
65. Potter LR, "Natriuretic peptides, their receptors, and cyclic guanosine mono-phosphate-dependent signaling functions", Endocr Rev, 27, pp.47~72 (2006)
66. Hisado-Oliva A, "Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature", Genet Med, 20, pp.91~97 (2018)
67. Wang SR, "Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature", Hum Mutat, 36, pp.474~481 (2015)
68. Moncla A, "A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype", Hum Mutat, 28, pp.1183~1188 (2007)
69. Miura K, "Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2(NPR2) gene", Am J Med Genet A, 164A, pp.156~163 (2014)
70. Teixeira CC, "Nitric oxide, C-type natriuretic peptide and cGMP as regulators of endo-chondral ossification", Dev Biol, 319, pp.171~178 (2008)
71. Krejci P, "Interaction of fibroblast growth factor and C-natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis", J Cell Sci, 118(Pt 21), pp.5089~5100 (2005)
72. Bartels CF, "Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux", Am J Hum Genet, 75, pp.27~34 (2004)
73. Hachiya R, "Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development", J Clin Endocrinol Metab, 92, pp.4009~4014 (2007)
74. Bocciardi R, "Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7)translocation", Hum Mutat, 28, pp.724~731 (2007)
75. Miura K, "An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene", PLoS One, 7, pp.e42180~ (2012)
76. Hannema SE, "An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities", J Clin Endocrinol Metab, 98, pp.E1988~E1998 (2013)
77. Al-Qattan MM, "Embryology of familial (non-syndromic)brachydactyly of the hand", J Hand Surg Eur, 39, pp.926~933 (2014)
78. Al-Qattan MM, "Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C", Am J Med Genet A, 167, pp.1621~1626 (2015)
79. Farooq M, "Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family", Hum Genet, 132, pp.1253~1264 (2013)
80. Martinez-Garcia M, "Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5", J Bone Miner Metab, 34, pp.599~603 (2016)
81. Thomas JT, "Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1", Nat Genet, 17, pp.58~64 (1997)
82. Chang SC, "Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development", J Biol Chem, 269, pp.28227~28234 (1994)
83. Hatakeyama Y, "Distinct functions of BMP4 and GDF5 in the regulation of chondrogenesis", J Cell Biochem, 91, pp.1204~1217 (2004)
84. Bai X, "Cartilage-derived morphogenetic protein-1 promotes the differen-tiation of mesenchymal stem cells into chondro cytes", Biochem Biophys Res Commun, 325, pp.453~460 (2004)
85. Kuss P, "Regulation of cell polarity in the cartilage growth plate and perichondrium of metacarpal elements by HOXD13 and WNT5A", Dev Biol, 385, pp.83~93 (2014)
86. Person AD, "WNT5A mutations in patients with autosomal dominant Robinow syndrome", Dev Dyn, 239, pp.327~337 (2010)
87. Roifman M, "De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype", Clin Genet, 87, pp.34~41 (2015)
88. Uchimura T, "An essential role for IGF2 in cartilage development and glucose metabolism during postnatal long bone growth", Development, 144, pp.3533~3546 (2017)
89. Begemann M, "Paternally Inherited IGF2 Mutation and Growth Restriction", N Engl J Med, 373, pp.349~356 (2015)
90. Nilsson O, "Endocrine regulation of the growth plate", Horm Res, 64, pp.157~165 (2005)
91. Daughaday WH, "Growth hormone axis overview--somatomedin hypothesis", Pediatr Nephrol, 14, pp.537~540 (2000)
92. Fujimoto M, "Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature", Clin Endocrinol (Oxf), 83, pp.834~841 (2015)
93. Abuzzahab MJ, "IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation", N Engl J Med, 349, pp.2211~2222 (2003)
94. Dauber A, "Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability", EMBO Mol Med, 8, pp.363~374 (2016)
95. Bárcena C, "Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome", BMC Med Genet, 15, pp.51~ (2014)
96. Dyment DA, "Mutations in PIK3R1cause SHORT syndrome", Am J Hum Genet, 93, pp.158~166 (2013)
97. Schroeder C, "PIK3R1 mutations in SHORT syndrome", Clin Genet, 86, pp.292~294 (2014)
98. Nilsson O, "Evidence that estrogen hastens epiphyseal fusion and cessation of longitudinal bone growth by irreversibly depleting the number of resting zone progenitor cells in female rabbits", Endocrinology, 155, pp.2892~2899 (2014)
99. Verma N, "Growth and hormonal profile from birth to adolescence of a girl with aromatase deficiency", J Pediatr Endocrinol Metab, 25, pp.1185~1190 (2012)
100. Marino R, "Five new cases of 46,XX aromatase deficiency: clinical follow-up from birth to puberty, a novel mutation, and a founder effect", J Clin Endocrinol Metab, 100, pp.E301~E307 (2015)
101. Fukami M, "Aromatase excess syndrome: a rare autosomal domi-nant disorder leading to pre- or peri-pubertal onset gynecomastia", Pediatr Endocrinol Rev, 11, pp.298~305 (2014)
102. Quaynor SD, "Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant", N Engl J Med, 369, pp.164~171 (2013)
103. Bernard V, "Familial multiplicity of estrogen insensitivity associated with a loss-of-function ESR1mutation", J Clin Endocrinol Metab, 102, pp.93~99 (2017)
104. Smith EP, "Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man", N Engl J Med, 331, pp.1056~1061 (1994)
105. Eggermann T, "Epigenetic regulation of growth: lessons from Silver-Russell syndrome", Endocr Dev, 14, pp.10~19 (2009)
106. Tatton-Brown K, "Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability", Nat Genet, 46, pp.385~388 (2014)
107. Xin B, "Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome", Clin Genet, 91, pp.623~628 (2017)
108. Tatton-Brown K, "Mutations in epigenetic regulation genes are a major cause of overgrowth with intellectual disability", Am J Hum Genet, 100, pp.725~736 (2017)
109. Gibson WT, "Mutations in EZH2 cause Weaver syndrome", Am J Hum Genet, 90, pp.110~118 (2012)
110. Tatton-Brown K, "Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height", Oncotarget, 2, pp.1127~1133 (2011)
111. Cao R, "Role of histone H3 lysine 27 methylation in Polycomb-group silencing", Science, 298, pp.1039~1043 (2002)
112. Kurotaki N, "Haploinsufficiency of NSD1 causes Sotos syndrome", Nat Genet, 30, pp.365~366 (2002)
113. Luscan A, "Mutations in SETD2 cause a novel overgrowth condition", J Med Genet, 51, pp.512~517 (2014)
114. Baujat G, "Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome", Am J Hum Genet, 74, pp.715~720 (2004)
115. Jee YH, "Genetics of short stature", Endocrinol Metab Clin North Am, 46, pp.259~281 (2017)

관련 논문AI추천