Hormone resistance and short stature: A journey through the pathways of hormone signaling
Nenhuma Miniatura disponível
Citações na Scopus
0
Tipo de produção
article
Data de publicação
2021
Título da Revista
ISSN da Revista
Título do Volume
Editora
ELSEVIER IRELAND LTD
Autores
SCALCO, Renata C.
Citação
MOLECULAR AND CELLULAR ENDOCRINOLOGY, v.536, article ID 111416, 12p, 2021
Resumo
Hormone resistances have been described in association with growth disorders, the majority involving the growth hormone (GH)/insulin-like growth factor 1(IGF-1) axis or hormones with specific paracrine-autocrine actions in the growth plate. Defects in hormone receptors or in proteins involved in intracellular signal transduction (post-receptor defects) are the main mechanisms of hormone resistance leading to short stature. The characteristic phenotypes of each of these hormonal resistances are very distinct and bring with them important insights into the role of each hormone and its signaling pathway. In this review, we discuss the molecular and clinical aspects of the main hormone resistances associated with short stature in humans.
Palavras-chave
Growth hormone, IGF-1, Growth plate, Growth hormone deficiency, Growth hormone insensitivity, IGF insensitivity, Natriuretic peptide system
Referências
- Abuzzahab MJ, 2003, NEW ENGL J MED, V349, P2211, DOI 10.1056/NEJMoa010107
- Aguiar-Oliveira MH, 2019, ENDOCR REV, V40, P575, DOI 10.1210/er.2018-00216
- Alatzoglou KS, 2014, ENDOCR REV, V35, P376, DOI 10.1210/er.2013-1067
- Albarran-Zeckler RG, 2013, ENDOCR DEV, V25, P5, DOI 10.1159/000346042
- [Anonymous], 2016, EUR J ENDOCRINOL, DOI 10.1530/EJE-16-0107
- Arya VB, 2020, HORM RES PAEDIAT, V93, P335, DOI 10.1159/000511874
- Avila M, 2016, CLIN GENET, V89, P501, DOI 10.1111/cge.12688
- Ayling RM, 1997, NAT GENET, V16, P13, DOI 10.1038/ng0597-13
- BAKER J, 1993, CELL, V75, P73, DOI 10.1016/0092-8674(93)90680-O
- Bartels CF, 2004, AM J HUM GENET, V75, P27, DOI 10.1086/422013
- Blum WF, 2018, EBIOMEDICINE, V36, P390, DOI 10.1016/j.ebiom.2018.09.026
- BORRELLI P, 1983, PEDIATR RADIOL, V13, P165, DOI 10.1007/BF01624409
- Cannata Dara, 2010, Adv Pediatr, V57, P331, DOI 10.1016/j.yapd.2010.09.003
- Chikuda H, 2004, GENE DEV, V18, P2418, DOI 10.1101/gad.1224204
- Chudasama KK, 2013, AM J HUM GENET, V93, P150, DOI 10.1016/j.ajhg.2013.05.023
- Chusho H, 2001, P NATL ACAD SCI USA, V98, P4016, DOI 10.1073/pnas.071389098
- Collett-Solberg PF, 2019, GROWTH HORM IGF RES, V44, P20, DOI 10.1016/j.ghir.2018.12.004
- Corazzini V, 2013, ENDOCR DEV, V24, P106, DOI 10.1159/000342575
- David A, 2011, ENDOCR REV, V32, P472, DOI 10.1210/er.2010-0023
- Domene S, 2020, MOL CELL ENDOCRINOL, V518, DOI 10.1016/j.mce.2020.111006
- Dyment DA, 2013, AM J HUM GENET, V93, P158, DOI 10.1016/j.ajhg.2013.06.005
- Ester WA, 2009, J CLIN ENDOCR METAB, V94, P4717, DOI 10.1210/jc.2008-1502
- Forbes BE, 2020, MOL CELL ENDOCRINOL, V518, DOI 10.1016/j.mce.2020.111035
- Freire BL, 2019, J CLIN ENDOCR METAB, V104, P2023, DOI 10.1210/jc.2018-01971
- Fujimoto M, 2020, MOL CELL ENDOCRINOL, V518, DOI 10.1016/j.mce.2020.110967
- Giabicani E, 2020, J MED GENET, V57, P160, DOI 10.1136/jmedgenet-2019-106328
- GODOWSKI PJ, 1989, P NATL ACAD SCI USA, V86, P8083, DOI 10.1073/pnas.86.20.8083
- Guevara-Aguirre J, 2021, REV ENDOCR METAB DIS, V22, P59, DOI 10.1007/s11154-020-09602-4
- Guevara-Aguirre J, 2011, SCI TRANSL MED, V3, DOI 10.1126/scitranslmed.3001845
- Hachiya R, 2007, J CLIN ENDOCR METAB, V92, P4009, DOI 10.1210/jc.2007-1101
- Hauer NN, 2018, GENET MED, V20, P630, DOI 10.1038/gim.2017.159
- Heath K.E, 2020, J MED GENET
- Hisado-Oliva A, 2015, J CLIN ENDOCR METAB, V100, pE1133, DOI 10.1210/jc.2015-1612
- Holzenberger M, 2003, NATURE, V421, P182, DOI 10.1038/nature01298
- Hume AN, 2009, HUM MOL GENET, V18, P267, DOI 10.1093/hmg/ddn354
- Hwa V, 2004, J BIOL CHEM, V279, P2728, DOI 10.1074/jbc.M310495200
- Hwa V, 2021, MOL CELL ENDOCRINOL, V519, DOI 10.1016/j.mce.2020.111063
- Iida K, 1999, J CLIN ENDOCR METAB, V84, P1011, DOI 10.1210/jc.84.3.1011
- Innes A.M., 1993, GENEREVIEWS R
- Inoue H, 2011, CLIN ENDOCRINOL, V74, P223, DOI 10.1111/j.1365-2265.2010.03911.x
- Kaiya H, 2014, J MOL ENDOCRINOL, V52, pT87, DOI 10.1530/JME-13-0175
- Khan S, 2016, EUR J MED GENET, V59, P198, DOI 10.1016/j.ejmg.2016.02.011
- Klammt J, 2011, BEST PRACT RES CL EN, V25, P191, DOI 10.1016/j.beem.2010.09.012
- Klammt J, 2018, NAT COMMUN, V9, DOI 10.1038/s41467-018-04521-0
- Kofoed EM, 2003, NEW ENGL J MED, V349, P1139, DOI 10.1056/NEJMoa022926
- LANGER LO, 1980, RADIOLOGY, V137, P349, DOI 10.1148/radiology.137.2.7433666
- Laron Z, 2004, J CLIN ENDOCR METAB, V89, P1031, DOI 10.1210/jc.2003-031033
- Legare J.M., 1993, GENEREVIEWS R
- LIN SC, 1993, NATURE, V364, P208, DOI 10.1038/364208a0
- Lin-Su Karen, 2002, Rev Endocr Metab Disord, V3, P313, DOI 10.1023/A:1020949507265
- LIU JP, 1993, CELL, V75, P59, DOI 10.1016/0092-8674(93)90679-K
- Majri SS, 2018, J IMMUNOL, V200, P110, DOI 10.4049/jimmunol.1701133
- Malaquias AC, 2021, MOL CELL ENDOCRINOL, V519, DOI 10.1016/j.mce.2020.111040
- MAROTEAUX P, 1971, PRESSE MED, V79, P1839
- Marui S, 2012, HORM RES PAEDIAT, V78, P165, DOI 10.1159/000342760
- Masunaga Y, 2021, ENDOCR J, V68, P111, DOI 10.1507/endocrj.EJ20-0291
- Nakaguma M, 2019, ENDOCR CONNECT, V8, P590, DOI 10.1530/EC-19-0085
- OGAWA Y, 1994, GENOMICS, V24, P383, DOI 10.1006/geno.1994.1633
- Olney RC, 2006, J CLIN ENDOCR METAB, V91, P1229, DOI 10.1210/jc.2005-1949
- Osorio MGF, 2002, J CLIN ENDOCR METAB, V87, P5076, DOI 10.1210/jc.2001-011936
- Ozasa A, 2005, BONE, V36, P1056, DOI 10.1016/j.bone.2005.03.006
- Pereira RMC, 2007, J CLIN ENDOCR METAB, V92, P2353, DOI 10.1210/jc.2007-0092
- Pfeifer A, 1996, SCIENCE, V274, P2082, DOI 10.1126/science.274.5295.2082
- Prontera P, 2015, HUM MUTAT, V36, P1043, DOI 10.1002/humu.22853
- Salvatori R, 1999, J CLIN ENDOCR METAB, V84, P917, DOI 10.1210/jc.84.3.917
- Salvatori R, 2002, MOL ENDOCRINOL, V16, P450, DOI 10.1210/me.16.3.450
- Saxton RA, 2017, CELL, V168, P960, DOI [10.1016/j.cell.2017.03.035, 10.1016/j.cell.2017.02.004]
- Scalco RC, 2015, EUR J ENDOCRINOL, V173, P291, DOI 10.1530/EJE-15-0398
- Schulz S, 2005, PEPTIDES, V26, P1024, DOI 10.1016/j.peptides.2004.08.027
- Shapiro L, 2017, EUR J ENDOCRINOL, V177, P485, DOI 10.1530/EJE-17-0453
- Storr HL, 2019, ENDOCR REV, V40, P476, DOI 10.1210/er.2018-00146
- SUGA SI, 1992, ENDOCRINOLOGY, V130, P229, DOI 10.1210/en.130.1.229
- Tamura N, 2004, P NATL ACAD SCI USA, V101, P17300, DOI 10.1073/pnas.0407894101
- Teglund S, 1998, CELL, V93, P841, DOI 10.1016/S0092-8674(00)81444-0
- Thauvin-Robinet C, 2013, AM J HUM GENET, V93, P141, DOI 10.1016/j.ajhg.2013.05.019
- van Gucht ALM, 2017, CURR TOP DEV BIOL, V125, P337, DOI 10.1016/bs.ctdb.2017.02.001
- Vasques GA, 2014, HORM RES PAEDIAT, V82, P222, DOI 10.1159/000365049
- Vasques GA, 2013, J CLIN ENDOCR METAB, V98, pE1636, DOI 10.1210/jc.2013-2142
- Wajnrajch MP, 1996, NAT GENET, V12, P88, DOI 10.1038/ng0196-88
- Wajnrajch MP, 2003, AM J MED GENET A, V120A, P77, DOI 10.1002/ajmg.a.10209
- Walenkamp MJE, 2019, J CLIN ENDOCR METAB, V104, P3157, DOI 10.1210/jc.2018-02065
- Wang J, 2004, J ENDOCRINOL, V180, P247, DOI 10.1677/joe.0.1800247
- Wang SR, 2015, HUM MUTAT, V36, P474, DOI 10.1002/humu.22773
- Waters MJ, 2011, HORM RES PAEDIAT, V76, P12, DOI 10.1159/000329138
- Wit JM, 2021, HORM RES PAEDIAT, DOI 10.1159/000516407
- Woods KA, 1997, J CLIN ENDOCR METAB, V82, P3529, DOI 10.1210/jc.82.11.3529
- Yasoda A, 1998, J BIOL CHEM, V273, P11695, DOI 10.1074/jbc.273.19.11695
- Zhou FL, 2020, NAT COMMUN, V11, DOI 10.1038/s41467-020-18945-0