Student or educator? Sign up with your school email and get 6 months of Pro free.
Cited by 134

The DOI matches its Crossref record; 35 of the 35 references it cites were found in a registry or an index.

Isolated Growth Hormone Deficiency (GHD) in Childhood and Adolescence: Recent Advances

Alatzoglou, Kyriaki S., Webb, Emma Alice, Le Tissier, Paul, Dattani, Mehul T·2014·Endocrine Reviews

Overview

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1210/er.2013-1067

Cites

35 of 35 references verified0 citation errors · 0 not checkable

Statistics

Verification

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Citations

Cites

Research works printed but not linked: 458

  1. Growth Hormone Research Society, 2000, Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH Research Society. GH Research Society, J Clin Endocrinol Metab, 85, 3990
  2. Kelberman, 2009, Genetic regulation of pituitary gland development in human and mouse, Endocr Rev, 30, 790, 10.1210/er.2009-0008 · DOI · Paper page
  3. Stanley, 2012, Diagnosis of growth hormone deficiency in childhood, Curr Opin Endocrinol Diabetes Obes, 19, 47, 10.1097/MED.0b013e32834ec952 · DOI
  4. Shalet, 1998, The diagnosis of growth hormone deficiency in children and adults, Endocr Rev, 19, 203, 10.1210/edrv.19.2.0329 · DOI · Paper page
  5. Alatzoglou, 2010, Genetic causes and treatment of isolated growth hormone deficiency-an update, Nat Rev Endocrinol, 6, 562, 10.1038/nrendo.2010.147 · DOI
  6. Japón, 1994, In situ hybridization analysis of anterior pituitary hormone gene expression during fetal mouse development, J Histochem Cytochem, 42, 1117, 10.1177/42.8.8027530 · DOI · Paper page
  7. Zhu, 2007, Molecular physiology of pituitary development: signaling and transcriptional networks, Physiol Rev, 87, 933, 10.1152/physrev.00006.2006 · DOI · Paper page
  8. Davis, 2011, Birthdating studies reshape models for pituitary gland cell specification, Dev Biol, 352, 215, 10.1016/j.ydbio.2011.01.010 · DOI
  9. Magoulas, 2000, A secreted fluorescent reporter targeted to pituitary growth hormone cells in transgenic mice, Endocrinology, 141, 4681, 10.1210/endo.141.12.7828 · DOI
  10. Bonnefont, 2005, Revealing the large-scale network organization of growth hormone-secreting cells, Proc Natl Acad Sci U S A, 102, 16880, 10.1073/pnas.0508202102 · DOI
  11. Le Tissier, 2012, Anterior pituitary cell networks, Front Neuroendocrinol, 33, 252, 10.1016/j.yfrne.2012.08.002 · DOI
  12. Le Tissier, 2005, Hypothalamic growth hormone-releasing hormone (GHRH) deficiency: targeted ablation of GHRH neurons in mice using a viral ion channel transgene, Mol Endocrinol, 19, 1251, 10.1210/me.2004-0223 · DOI
  13. Waite, 2010, Different degrees of somatotroph ablation compromise pituitary growth hormone cell network structure and other pituitary endocrine cell types, Endocrinology, 151, 234, 10.1210/en.2009-0539 · DOI
  14. Chauvet, 2009, Characterization of adherens junction protein expression and localization in pituitary cell networks, J Endocrinol, 202, 375, 10.1677/JOE-09-0153 · DOI
  15. Budry, 2011, Related pituitary cell lineages develop into interdigitated 3D cell networks, Proc Natl Acad Sci U S A, 108, 12515, 10.1073/pnas.1105929108 · DOI
  16. Lafont, 2010, Cellular in vivo imaging reveals coordinated regulation of pituitary microcirculation and GH cell network function, Proc Natl Acad Sci U S A, 107, 4465, 10.1073/pnas.0902599107 · DOI
  17. Hodson, 2012, Existence of long-lasting experience-dependent plasticity in endocrine cell networks, Nat Commun, 3, 605, 10.1038/ncomms1612 · DOI
  18. Sanchez-Cardenas, 2010, Pituitary growth hormone network responses are sexually dimorphic and regulated by gonadal steroids in adulthood, Proc Natl Acad Sci U S A, 107, 21878, 10.1073/pnas.1010849107 · DOI
  19. Gouty-Colomer, 2010, Specific involvement of gonadal hormones in the functional maturation of growth hormone releasing hormone (GHRH) neurons, Endocrinology, 151, 5762, 10.1210/en.2010-0298 · DOI
  20. Bouyer, 2006, Sexually dimorphic distribution of sst2A somatostatin receptors on growth hormone-releasing hormone neurons in mice, Endocrinology, 147, 2670, 10.1210/en.2005-1462 · DOI
  21. Schaeffer, 2011, Influence of estrogens on GH-cell network dynamics in females: a live in situ imaging approach, Endocrinology, 152, 4789, 10.1210/en.2011-1430 · DOI
  22. Ward, 2006, Cell proliferation and vascularization in mouse models of pituitary hormone deficiency, Mol Endocrinol, 20, 1378, 10.1210/me.2005-0409 · DOI
  23. Schwartz, 2000, Intercellular communication in the anterior pituitary, Endocr Rev, 21, 488
  24. Kappeler, 2008, Brain IGF-1 receptors control mammalian growth and lifespan through a neuroendocrine mechanism, PLoS Biol, 6, e254, 10.1371/journal.pbio.0060254 · DOI · Paper page
  25. Denef, 2008, Paracrinicity: the story of 30 years of cellular pituitary crosstalk, J Neuroendocrinol, 20, 1, 10.1111/j.1365-2826.2007.01616.x · DOI
  26. Cimini, 2003, Neuropeptides in anterior pituitary development, Int J Dev Neurosci, 21, 291, 10.1016/S0736-5748(03)00072-8 · doi:10.1016/s0736-5748(03)00072-8
  27. Lee, 2008, Functional expression of CXCR4 in somatotrophs: CXCL12 activates GH gene, GH production and secretion, and cellular proliferation, J Endocrinol, 199, 191, 10.1677/JOE-08-0250 · DOI
  28. Horiguchi, 2012, Expression of chemokine CXCL12 and its receptor CXCR4 in folliculostellate (FS) cells of the rat anterior pituitary gland: the CXCL12/CXCR4 axis induces interconnection of FS cells, Endocrinology, 153, 1717, 10.1210/en.2011-1937 · doi:10.1210/en.2011-1937
  29. Howard, 2000, Identification of receptors for neuromedin U and its role in feeding, Nature, 406, 70, 10.1038/35017610 · DOI · Paper page
  30. Wren, 2002, Hypothalamic actions of neuromedin U, Endocrinology, 143, 4227, 10.1210/en.2002-220308 · DOI
  31. Reyes, 2008, Immunohistochemical distribution of regulatory peptides in the human fetal adenohypophysis, J Anat, 212, 817, 10.1111/j.1469-7580.2008.00906.x · doi:10.1111/j.1469-7580.2008.00906.x
  32. Nogami, 2008, Functional maturation of growth hormone cells in the anterior pituitary gland of the fetus, Growth Horm IGF Res, 18, 379, 10.1016/j.ghir.2008.01.007 · DOI
  33. Bilezikjian, 2012, Cell-type specific modulation of pituitary cells by activin, inhibin and follistatin, Mol Cell Endocrinol, 359, 43, 10.1016/j.mce.2012.01.025 · DOI
  34. Barbieri, 2007, Role of stromal cell-derived factor 1 (SDF1/CXCL12) in regulating anterior pituitary function, J Mol Endocrinol, 38, 383, 10.1677/JME-06-0014 · DOI
  35. Mazziotti, 2013, Glucocorticoids and the regulation of growth hormone secretion, Nat Rev Endocrinol, 9, 265, 10.1038/nrendo.2013.5 · DOI · Paper page
  36. Porter, 2005, Regulation of pituitary somatotroph differentiation by hormones of peripheral endocrine glands, Domest Anim Endocrinol, 29, 52, 10.1016/j.domaniend.2005.04.004 · DOI
  37. Vakili, 2011, Transgenic mice expressing the human growth hormone gene provide a model system to study human growth hormone synthesis and secretion in non-tumor-derived pituitary cells: differential effects of dexamethasone and thyroid hormone, Mol Cell Endocrinol, 345, 48, 10.1016/j.mce.2011.07.010 · DOI
  38. Vakili, 2012, The hidden but positive role for glucocorticoids in the regulation of growth hormone-producing cells, Mol Cell Endocrinol, 363, 1, 10.1016/j.mce.2012.08.001 · DOI
  39. Jenkins, 2007, Administration of adrenocorticotropic hormone during chicken embryonic development prematurely induces pituitary growth hormone cells, Endocrinology, 148, 3914, 10.1210/en.2006-1102 · DOI
  40. Nogami, 1997, Involvement of glucocorticoid-induced factor(s) in the stimulation of growth hormone expression in the fetal rat pituitary gland in vitro, Endocrinology, 138, 1810, 10.1210/endo.138.5.5124 · doi:10.1210/endo.138.5.5124
  41. Suga, 2011, Self-formation of functional adenohypophysis in three-dimensional culture, Nature, 480, 57, 10.1038/nature10637 · DOI · Paper page
  42. Bossis, 2004, Pituitary expression of type I and type II glucocorticoid receptors during chicken embryonic development and their involvement in growth hormone cell differentiation, Endocrinology, 145, 3523, 10.1210/en.2004-0155 · DOI
  43. Erdmann, 2008, Loss of glucocorticoid receptor function in the pituitary results in early postnatal lethality, Endocrinology, 149, 3446, 10.1210/en.2007-1786 · DOI
  44. Eliard, 1985, Binding of the human glucocorticoid receptor to defined regions in the human growth hormone and placental lactogen genes, DNA, 4, 409, 10.1089/dna.1985.4.409 · doi:10.1089/dna.1985.4.409
  45. Moore, 1985, The first intron of the human growth hormone gene contains a binding site for glucocorticoid receptor, Proc Natl Acad Sci U S A, 82, 699, 10.1073/pnas.82.3.699 · doi:10.1073/pnas.82.3.699
  46. Gutierrez-Hartmann, 2007, ETS transcription factors in endocrine systems, Trends Endocrinol Metab, 18, 150, 10.1016/j.tem.2007.03.002 · DOI
  47. Yang, 2010, Appearance of the pituitary factor Pit-1 increases chromatin remodeling at hypersensitive site III in the human GH locus, J Mol Endocrinol, 45, 19, 10.1677/JME-10-0017 · doi:10.1677/jme-10-0017
  48. Ellestad, 2006, Gene expression profiling during cellular differentiation in the embryonic pituitary gland using cDNA microarrays, Physiol Genomics, 25, 414, 10.1152/physiolgenomics.00248.2005 · DOI
  49. Ellestad, 2013, Ras-dva is a novel Pit-1- and glucocorticoid-regulated gene in the embryonic anterior pituitary gland, Endocrinology, 154, 308, 10.1210/en.2012-1566 · DOI
  50. McEachern, 2011, Severe cortisol deficiency associated with reversible growth hormone deficiency in two infants: what is the link?, J Clin Endocrinol Metab, 96, 2670, 10.1210/jc.2011-0129 · DOI
  51. McMahon, 2010, Neonatal complete generalized glucocorticoid resistance and growth hormone deficiency caused by a novel homozygous mutation in Helix 12 of the ligand binding domain of the glucocorticoid receptor gene (NR3C1), J Clin Endocrinol Metab, 95, 297, 10.1210/jc.2009-1003 · DOI · Paper page
  52. Stojilkovic, 2009, Multiple roles of Gi/o protein-coupled receptors in control of action potential secretion coupling in pituitary lactotrophs, Ann N Y Acad Sci, 1152, 174, 10.1111/j.1749-6632.2008.03994.x · DOI
  53. Garcia-Tornadú, 2010, New insights into the endocrine and metabolic roles of dopamine D2 receptors gained from the Drd2 mouse, Neuroendocrinology, 92, 207, 10.1159/000321395 · DOI
  54. Díaz-Torga, 2002, Disruption of the D2 dopamine receptor alters GH and IGF-I secretion and causes dwarfism in male mice, Endocrinology, 143, 1270, 10.1210/endo.143.4.8750 · DOI
  55. García-Tornadú, 2006, GH in the dwarf dopaminergic D2 receptor knockout mouse: somatotrope population, GH release, and responsiveness to GH-releasing factors and somatostatin, J Endocrinol, 190, 611, 10.1677/joe.1.06902 · DOI
  56. Phelps, 2003, Growth hormone-releasing hormone-producing and dopaminergic neurones in the mouse arcuate nucleus are independently regulated populations, J Neuroendocrinol, 15, 280, 10.1046/j.1365-2826.2003.01009.x · DOI
  57. Deltondo, 2008, Associations between the human growth hormone-releasing hormone- and neuropeptide-Y-immunoreactive systems in the human diencephalon: a possible morphological substrate of the impact of stress on growth, Neuroscience, 153, 1146, 10.1016/j.neuroscience.2008.02.072 · DOI
  58. Dudas, 2010, Distribution and morphology of the catecholaminergic neural elements in the human hypothalamus, Neuroscience, 171, 187, 10.1016/j.neuroscience.2010.08.050 · DOI
  59. Anderson, 2010, Distribution and morphology of the juxtapositions between growth hormone-releasing hormone-(GHRH)-immunoreactive neuronal elements, Growth Horm IGF Res, 20, 356, 10.1016/j.ghir.2010.06.002 · DOI
  60. Rotoli, 2011, Catecholaminergic axonal varicosities appear to innervate growth hormone-releasing hormone-immunoreactive neurons in the human hypothalamus: the possible morphological substrate of the stress-suppressed growth, J Clin Endocrinol Metab, 96, E1606, 10.1210/jc.2011-1069 · DOI
  61. Albanese, 1994, Reversibility of physiological growth hormone secretion in children with psychosocial dwarfism, Clin Endocrinol (Oxf), 40, 687, 10.1111/j.1365-2265.1994.tb03022.x · DOI
  62. Gohlke, 2004, Growth hormone secretion and long-term growth data in children with psychosocial short stature treated by different changes in environment, J Pediatr Endocrinol Metab, 17, 637, 10.1515/JPEM.2004.17.4.637 · DOI
  63. Callewaere, 2007, Chemokines and chemokine receptors in the brain: implication in neuroendocrine regulation, J Mol Endocrinol, 38, 355, 10.1677/JME-06-0035 · DOI
  64. Sawada, 1994, In vitro effects of CINC/gro, a member of the interleukin-8 family, on hormone secretion by rat anterior pituitary cells, Biochem Biophys Res Commun, 202, 155, 10.1006/bbrc.1994.1906 · DOI
  65. Massa, 2006, SDF-1 controls pituitary cell proliferation through the activation of ERK1/2 and the Ca2+-dependent, cytosolic tyrosine kinase Pyk2, Ann N Y Acad Sci, 1090, 385, 10.1196/annals.1378.042 · DOI
  66. Ansell, 2007, Regulation of growth hormone expression by Δ-like protein 1 (Dlk1), Mol Cell Endocrinol, 271, 55, 10.1016/j.mce.2007.04.002 · doi:10.1016/j.mce.2007.04.002
  67. Moon, 2002, Mice lacking paternally expressed Pref-1/Dlk1 display growth retardation and accelerated adiposity, Mol Cell Biol, 22, 5585, 10.1128/MCB.22.15.5585-5592.2002 · DOI · Paper page
  68. Puertas-Avendaño, 2011, Role of the non-canonical notch ligand delta-like protein 1 in hormone-producing cells of the adult male mouse pituitary, J Neuroendocrinol, 23, 849, 10.1111/j.1365-2826.2011.02189.x · DOI
  69. Cheung, 2013, Pituitary phenotypes of mice lacking the notch signalling ligand delta-like 1 homologue, J Neuroendocrinol, 25, 391, 10.1111/jne.12010 · doi:10.1111/jne.12010
  70. McGuinness, 2003, Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic mice, Endocrinology, 144, 720, 10.1210/en.2002-220847 · DOI
  71. Alba, 2004, A mouse with targeted ablation of the growth hormone-releasing hormone gene: a new model of isolated growth hormone deficiency, Endocrinology, 145, 4134, 10.1210/en.2004-0119 · DOI
  72. Borrelli, 1989, Transgenic mice with inducible dwarfism, Nature, 339, 538, 10.1038/339538a0 · DOI · Paper page
  73. Castinetti, 2011, Pituitary stem cell update and potential implications for treating hypopituitarism, Endocr Rev, 32, 453, 10.1210/er.2010-0011 · DOI
  74. Vankelecom, 2010, Stem cells in the pituitary gland: a burgeoning field, Gen Comp Endocrinol, 166, 478, 10.1016/j.ygcen.2009.11.007 · DOI
  75. Gremeaux, 2012, Activated phenotype of the pituitary stem/progenitor cell compartment during the early-postnatal maturation phase of the gland, Stem Cells Dev, 21, 801, 10.1089/scd.2011.0496 · DOI
  76. Fauquier, 2008, SOX2-expressing progenitor cells generate all of the major cell types in the adult mouse pituitary gland, Proc Natl Acad Sci U S A, 105, 2907, 10.1073/pnas.0707886105 · DOI · Paper page
  77. Pevny, 2005, SOX genes and neural progenitor identity, Curr Opin Neurobiol, 15, 7, 10.1016/j.conb.2005.01.016 · DOI · Paper page
  78. Favaro, 2009, Hippocampal development and neural stem cell maintenance require Sox2-dependent regulation of Shh, Nat Neurosci, 12, 1248, 10.1038/nn.2397 · DOI · Paper page
  79. Mullis, 2007, Genetics of growth hormone deficiency, Endocrinol Metab Clin North Am, 36, 17, 10.1016/j.ecl.2006.11.010 · doi:10.1016/j.ecl.2006.11.010
  80. Alatzoglou, 2009, Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency, J Clin Endocrinol Metab, 94, 3191, 10.1210/jc.2008-2783 · DOI
  81. Horan, 2003, Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region, Hum Mutat, 21, 408, 10.1002/humu.10167 · DOI
  82. Shewchuk, 2002, Specification of unique Pit-1 activity in the hGH locus control region, Proc Natl Acad Sci U S A, 99, 11784, 10.1073/pnas.182418199 · doi:10.1073/pnas.182418199
  83. Cattini, 2006, Regulation of the human growth hormone gene family: possible role for Pit-1 in early stages of pituitary-specific expression and repression, Neuroendocrinology, 83, 145, 10.1159/000095522 · doi:10.1159/000095522
  84. Procter, 1998, The molecular genetics of growth hormone deficiency, Hum Genet, 103, 255, 10.1007/s004390050815 · doi:10.1007/s004390050815
  85. Wagner, 1998, Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency, Pediatr Res, 43, 105
  86. Phillips, 1994, Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency, J Clin Endocrinol Metab, 78, 11
  87. Laron, 1985, Human growth hormone gene deletion without antibody formation or growth arrest during treatment–a new disease entity?, Isr J Med Sci, 21, 999
  88. Igarashi, 1993, A new mutation causing inherited growth hormone deficiency: a compound heterozygote of a 6.7 kb deletion and a two base deletion in the third exon of the GH-1 gene, Hum Mol Genet, 2, 1073, 10.1093/hmg/2.7.1073 · doi:10.1093/hmg/2.7.1073
  89. Iughetti, 2008, Complex disease phenotype revealed by GH deficiency associated with a novel and unusual defect in the GH-1 gene, Clin Endocrinol (Oxf), 69, 170, 10.1111/j.1365-2265.2007.03157.x · doi:10.1111/j.1365-2265.2007.03157.x
  90. Cogan, 1993, Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency, J Clin Endocrinol Metab, 76, 1224
  91. Leiberman, 2000, Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency, Am J Med Genet, 90, 188, 10.1002/(SICI)1096-8628(20000131)90:3<188::AID-AJMG2>3.0.CO;2-S · doi:10.1002/(sici)1096-8628(20000131)90:3<188::aid-ajmg2>3.0.co;2-s
  92. Phillips, 1981, Molecular basis for familial isolated growth hormone deficiency, Proc Natl Acad Sci U S A, 78, 6372, 10.1073/pnas.78.10.6372 · DOI
  93. Kamijo, 1992, Detection of molecular heterogeneity in GH-1 gene deletions by analysis of polymerase chain reaction amplification products, J Clin Endocrinol Metab, 74, 786, 10.1210/jcem.74.4.1548341 · doi:10.1210/jcem.74.4.1548341
  94. He, 1990, A Chinese familial growth hormone deficiency with a deletion of 7.1 kb of DNA, J Med Genet, 27, 151, 10.1136/jmg.27.3.151 · doi:10.1136/jmg.27.3.151
  95. Braga, 1986, Familial growth hormone deficiency resulting from a 7.6 kb deletion within the growth hormone gene cluster, Am J Med Genet, 25, 443, 10.1002/ajmg.1320250306 · doi:10.1002/ajmg.1320250306
  96. Goossens, 1986, Isolated growth hormone (GH) deficiency type 1A associated with a double deletion in the human GH gene cluster, J Clin Endocrinol Metab, 62, 712, 10.1210/jcem-62-4-712 · doi:10.1210/jcem-62-4-712
  97. Duquesnoy, 1990, A frameshift mutation causing isolated growth hormone deficiency type 1A, Am J Hum Genet, 47, A110
  98. Akinci, 1992, Isolated growth hormone (GH) deficiency type IA associated with a 45-kilobase gene deletion within the human GH gene cluster, J Clin Endocrinol Metab, 75, 437
  99. Lee, 2000, Autosomal dominant growth hormone (GH) deficiency type II: the Del32–71-GH deletion mutant suppresses secretion of wild-type GH, Endocrinology, 141, 883, 10.1210/endo.141.3.7380 · doi:10.1210/endo.141.3.7380
  100. Ryther, 2003, Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II, Hum Genet, 113, 140, 10.1007/s00439-003-0949-x · DOI
  101. Moseley, 2002, An exon splice enhancer mutation causes autosomal dominant GH deficiency, J Clin Endocrinol Metab, 87, 847, 10.1210/jcem.87.2.8236 · doi:10.1210/jcem.87.2.8236
  102. Takahashi, 2002, An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II, Clin Genet, 61, 222, 10.1034/j.1399-0004.2002.610310.x · DOI
  103. Shariat, 2008, Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function, Clin Genet, 74, 539, 10.1111/j.1399-0004.2008.01042.x · DOI
  104. Petkovic, 2007, Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency, J Clin Endocrinol Metab, 92, 4427, 10.1210/jc.2007-0857 · doi:10.1210/jc.2007-0857
  105. Millar, 2003, Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature, Hum Mutat, 21, 424, 10.1002/humu.10168 · DOI
  106. Ryther, 2004, GH1 splicing is regulated by multiple enhancers whose mutation produces a dominant-negative GH isoform that can be degraded by allele-specific small interfering RNA (siRNA), Endocrinology, 145, 2988, 10.1210/en.2003-1724 · DOI
  107. Cogan, 1997, A novel mechanism of aberrant pre-mRNA splicing in humans, Hum Mol Genet, 6, 909, 10.1093/hmg/6.6.909 · DOI
  108. McCarthy, 1998, Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA, Hum Mol Genet, 7, 1491, 10.1093/hmg/7.9.1491 · DOI
  109. Vivenza, 2006, A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomal dominant isolated growth hormone deficiency, J Clin Endocrinol Metab, 91, 980, 10.1210/jc.2005-1703 · doi:10.1210/jc.2005-1703
  110. Salemi, 2006, Impact of del32–71-GH (exon 3 skipped GH) on intracellular GH distribution, secretion and cell viability: a quantitative confocal microscopy analysis, Horm Res, 65, 132
  111. Salemi, 2007, Isolated autosomal dominant growth hormone deficiency: stimulating mutant GH-1 gene expression drives GH-1 splice-site selection, cell proliferation, and apoptosis, Endocrinology, 148, 45, 10.1210/en.2006-0772 · doi:10.1210/en.2006-0772
  112. Takahashi, 1996, Brief report: short stature caused by a mutant growth hormone, N Engl J Med, 334, 432, 10.1056/NEJM199602153340704 · DOI
  113. Miyata, 1997, Detection of growth hormone gene defects by dideoxy fingerprinting (ddF), Endocr J, 44, 149, 10.1507/endocrj.44.149 · doi:10.1507/endocrj.44.149
  114. Takahashi, 1997, Biologically inactive growth hormone caused by an amino acid substitution, J Clin Invest, 100, 1159, 10.1172/JCI119627 · DOI
  115. Lewis, 2004, A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway, J Clin Endocrinol Metab, 89, 1068, 10.1210/jc.2003-030652 · doi:10.1210/jc.2003-030652
  116. Petkovic, 2007, GH mutant (R77C) in a pedigree presenting with the delay of growth and pubertal development: structural analysis of the mutant and evaluation of the biological activity, Eur J Endocrinol, 157, S67, 10.1530/EJE-07-0339 · doi:10.1530/eje-07-0339
  117. Deladoëy, 2001, Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion, J Clin Endocrinol Metab, 86, 3941, 10.1210/jcem.86.8.7723 · DOI
  118. Zhu, 2002, Prolonged retention after aggregation into secretory granules of human R183H-growth hormone (GH), a mutant that causes autosomal dominant GH deficiency type II, Endocrinology, 143, 4243, 10.1210/en.2002-220575 · doi:10.1210/en.2002-220575
  119. Salemi, 2005, Variability of isolated autosomal dominant GH deficiency (IGHD II): impact of the P89L GH mutation on clinical follow-up and GH secretion, Eur J Endocrinol, 153, 791, 10.1530/eje.1.02041 · doi:10.1530/eje.1.02041
  120. Petkovic, 2010, Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action, J Clin Endocrinol Metab, 95, 731, 10.1210/jc.2009-1247 · doi:10.1210/jc.2009-1247
  121. Petkovic, 2013, Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH, Eur J Endocrinol, 168, K35, 10.1530/EJE-12-0847 · doi:10.1530/eje-12-0847
  122. Petkovic, 2011, A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome, Growth Horm IGF Res, 21, 160, 10.1016/j.ghir.2011.04.002 · doi:10.1016/j.ghir.2011.04.002
  123. Binder, 2002, Isolated GH deficiency (IGHD) type II: imaging of the pituitary gland by magnetic resonance reveals characteristic differences in comparison with severe IGHD of unknown origin, Eur J Endocrinol, 147, 755, 10.1530/eje.0.1470755 · DOI
  124. Hess, 2007, Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene, J Clin Endocrinol Metab, 92, 4387, 10.1210/jc.2007-0684 · doi:10.1210/jc.2007-0684
  125. Hamid, 2009, A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II, J Clin Endocrinol Metab, 94, 4728, 10.1210/jc.2009-0746 · doi:10.1210/jc.2009-0746
  126. Binder, 2001, Isolated GH deficiency with dominant inheritance: new mutations, new insights, J Clin Endocrinol Metab, 86, 3877, 10.1210/jcem.86.8.7757 · DOI
  127. Mullis, 2005, Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study, J Clin Endocrinol Metab, 90, 2089, 10.1210/jc.2004-1280 · DOI
  128. Turton, 2006, Evolution of gonadotropin deficiency in a patient with type II autosomal dominant GH deficiency, Eur J Endocrinol, 155, 793, 10.1530/eje.1.02293 · DOI
  129. Petkovic, 2010, Growth Hormone (GH)-Releasing Hormone Increases the Expression of the Dominant-Negative GH Isoform in Cases of Isolated GH Deficiency due to GH Splice-Site Mutations, Endocrinology, 151, 2650, 10.1210/en.2009-1280 · DOI
  130. Poling, 2011, Pharmacologic correction of dominant-negative GH1 deficiency causing mutations, Clin Transl Sci, 4, 175, 10.1111/j.1752-8062.2011.00290.x · DOI
  131. Shariat, 2008, Rescue of pituitary function in a mouse model of isolated growth hormone deficiency type II by RNA interference, Endocrinology, 149, 580, 10.1210/en.2007-1360 · DOI
  132. Lochmatter, 2010, Isolated GH deficiency type II: knockdown of the harmful Delta3GH recovers wt-GH secretion in rat tumor pituitary cells, Endocrinology, 151, 4400, 10.1210/en.2010-0196 · DOI
  133. Solloso, 2008, GHRH proliferative action on somatotrophs is cell-type specific and dependent on Pit-1/GHF-1 expression, J Cell Physiol, 215, 140, 10.1002/jcp.21295 · doi:10.1002/jcp.21295
  134. Wajnrajch, 1996, Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse, Nat Genet, 12, 88, 10.1038/ng0196-88 · DOI · Paper page
  135. Godi, 2009, A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency, J Clin Endocrinol Metab, 94, 3939, 10.1210/jc.2009-0833 · doi:10.1210/jc.2009-0833
  136. Salvatori, 2002, Serum GH response to pharmacological stimuli and physical exercise in two siblings with two new inactivating mutations in the GH-releasing hormone receptor gene, Eur J Endocrinol, 147, 591, 10.1530/eje.0.1470591 · DOI
  137. Soneda, 2013, Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency, Growth Horm IGF Res, 23, 89, 10.1016/j.ghir.2013.03.003 · DOI
  138. Salvatori, 2001, Isolated growth hormone (GH) deficiency due to compound heterozygosity for two new mutations in the GH-releasing hormone receptor gene, Clin Endocrinol (Oxf), 54, 681, 10.1046/j.1365-2265.2001.01273.x · doi:10.1046/j.1365-2265.2001.01273.x
  139. Salvatori, 2001, Three new mutations in the gene for the growth hormone (GH)-releasing hormone receptor in familial isolated GH deficiency type Ib, J Clin Endocrinol Metab, 86, 273
  140. Carakushansky, 2003, A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency, Eur J Endocrinol, 148, 25, 10.1530/eje.0.1480025 · DOI
  141. Haskin, 2006, A new mutation in the growth hormone-releasing hormone receptor gene in two Israeli Arab families, J Endocrinol Invest, 29, 122, 10.1007/BF03344084 · doi:10.1007/bf03344084
  142. Hilal, 2008, Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene, Mol Med, 14, 286, 10.2119/2007-00128.Hilal · DOI
  143. Wang, 2009, Identification of a novel splicing mutation in the growth hormone (GH)-releasing hormone receptor gene in a Chinese family with pituitary dwarfism, Mol Cell Endocrinol, 313, 50, 10.1016/j.mce.2009.08.021 · DOI
  144. Alba, 2004, Variability in anterior pituitary size within members of a family with GH deficiency due to a new splice mutation in the GHRH receptor gene, Clin Endocrinol (Oxf), 60, 470, 10.1111/j.1365-2265.2004.02003.x · DOI
  145. Shohreh, 2011, A novel frame shift mutation in the GHRH receptor gene in familial isolated GH deficiency: early occurrence of anterior pituitary hypoplasia, J Clin Endocrinol Metab, 96, 2982, 10.1210/jc.2011-1031 · doi:10.1210/jc.2011-1031
  146. Horikawa, 2002, Isolated GH deficiency due to inactivating mutation of GHRH receptor [in Japanese], Nippon Rinsho, 60, 297
  147. Salvatori, 2002, Decreased expression of the GHRH receptor gene due to a mutation in a Pit-1 binding site, Mol Endocrinol, 16, 450, 10.1210/mend.16.3.0785 · doi:10.1210/mend.16.3.0785
  148. Salvatori, 1999, Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene, J Clin Endocrinol Metab, 84, 917
  149. Salvatori, 2002, Detection of a recurring mutation in the human growth hormone-releasing hormone receptor gene, Clin Endocrinol (Oxf), 57, 77, 10.1046/j.1365-2265.2002.01565.x · DOI
  150. Maheshwari, 1998, Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: dwarfism of Sindh, J Clin Endocrinol Metab, 83, 4065
  151. Kamijo, 2004, A nonsense mutation (E72X) in growth hormone releasing hormone receptor (GHRHR) gene is the major cause of familial isolated growth hormone deficiency in Western region of India: founder effect suggested by analysis of dinucleotide repeat polymorphism close to GHRHR gene, Growth Horm IGF Res, 14, 394, 10.1016/j.ghir.2004.05.001 · DOI
  152. Inoue, 2011, Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature, Clin Endocrinol (Oxf), 74, 223, 10.1111/j.1365-2265.2010.03911.x · doi:10.1111/j.1365-2265.2010.03911.x
  153. Marui, 2012, GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects, Horm Res Paediatr, 78, 165, 10.1159/000342760 · DOI
  154. Gondo, 2001, Growth hormone-releasing peptide-2 stimulates GH secretion in GH-deficient patients with mutated GH-releasing hormone receptor, J Clin Endocrinol Metab, 86, 3279
  155. Gois, 2012, The consequences of growth hormone-releasing hormone receptor haploinsufficiency for bone quality and insulin resistance, Clin Endocrinol (Oxf), 77, 379, 10.1111/j.1365-2265.2011.04263.x · DOI
  156. Pereira, 2007, Heterozygosity for a mutation in the growth hormone-releasing hormone receptor gene does not influence adult stature, but affects body composition, J Clin Endocrinol Metab, 92, 2353, 10.1210/jc.2007-0092 · DOI
  157. Alba, 2005, Naturally-occurring missense mutations in the human growth hormone-releasing hormone receptor alter ligand binding, J Endocrinol, 186, 515, 10.1677/joe.1.06213 · DOI
  158. Camats, 2012, Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height, Clin Endocrinol (Oxf), 77, 564, 10.1111/j.1365-2265.2012.04410.x · doi:10.1111/j.1365-2265.2012.04410.x
  159. Johansson, 2009, Extended haplotypes in the growth hormone releasing hormone receptor gene (GHRHR) are associated with normal variation in height, PLoS One, 4, e4464, 10.1371/journal.pone.0004464 · doi:10.1371/journal.pone.0004464
  160. Kelberman, 2008, SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development, J Clin Endocrinol Metab, 93, 1865, 10.1210/jc.2007-2337 · DOI
  161. Woods, 2005, Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism, Am J Hum Genet, 76, 833, 10.1086/430134 · DOI · Paper page
  162. Dateki, 2010, Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype, J Clin Endocrinol Metab, 95, 756, 10.1210/jc.2009-1334 · DOI
  163. Thomas, 2001, Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia, Hum Mol Genet, 10, 39, 10.1093/hmg/10.1.39 · DOI · Paper page
  164. Idrees, 2006, A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes, Am J Med Genet B Neuropsychiatr Genet, 141B, 184, 10.1002/ajmg.b.30237 · doi:10.1002/ajmg.b.30237
  165. Pfaeffle, 2008, Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies, J Clin Endocrinol Metab, 93, 1062, 10.1210/jc.2007-1525 · DOI
  166. Kelberman, 2006, Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans, J Clin Invest, 116, 2442
  167. Stewart, 2008, X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update, Immunol Res, 40, 262, 10.1007/s12026-007-0028-9 · doi:10.1007/s12026-007-0028-9
  168. Alatzoglou, 2011, Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism, J Clin Endocrinol Metab, 96, E685, 10.1210/jc.2010-1239 · doi:10.1210/jc.2010-1239
  169. McNay, 2007, HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism, J Clin Endocrinol Metab, 92, 691, 10.1210/jc.2006-1609 · DOI
  170. Dateki, 2008, OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters, J Clin Endocrinol Metab, 93, 3697, 10.1210/jc.2008-0720 · DOI
  171. Ashkenazi-Hoffnung, 2010, A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency, Hum Genet, 127, 721, 10.1007/s00439-010-0820-9 · DOI
  172. Sobrier, 2004, Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development, Gene Expr Patterns, 5, 279, 10.1016/j.modgep.2004.07.003 · DOI
  173. Jayakody, 2012, SOX2 regulates the hypothalamic-pituitary axis at multiple levels, J Clin Invest, 122, 3635, 10.1172/JCI64311 · DOI
  174. Flück, 1998, Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg–>Cys at codon 120 (R120C), J Clin Endocrinol Metab, 83, 3727
  175. Prince, 2011, The role of homeodomain transcription factors in heritable pituitary disease, Nat Rev Endocrinol, 7, 727, 10.1038/nrendo.2011.119 · DOI
  176. Turton, 2005, Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency, J Clin Endocrinol Metab, 90, 4762, 10.1210/jc.2005-0570 · DOI
  177. França, 2011, Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency, J Clin Endocrinol Metab, 96, E1457, 10.1210/jc.2011-0170 · doi:10.1210/jc.2011-0170
  178. Kojima, 2005, Ghrelin: structure and function, Physiol Rev, 85, 495, 10.1152/physrev.00012.2004 · DOI · Paper page
  179. Zizzari, 2005, Endogenous ghrelin regulates episodic growth hormone (GH) secretion by amplifying GH Pulse amplitude: evidence from antagonism of the GH secretagogue-R1a receptor, Endocrinology, 146, 3836, 10.1210/en.2005-0212 · DOI
  180. Pantel, 2006, Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature, J Clin Invest, 116, 760, 10.1172/JCI25303 · DOI · Paper page
  181. Pantel, 2009, Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor, J Clin Endocrinol Metab, 94, 4334, 10.1210/jc.2009-1327 · DOI
  182. Sun, 2003, Deletion of ghrelin impairs neither growth nor appetite, Mol Cell Biol, 23, 7973, 10.1128/MCB.23.22.7973-7981.2003 · DOI · Paper page
  183. Mohamadi, 2009, Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB, J Clin Endocrinol Metab, 94, 2565, 10.1210/jc.2009-0512 · DOI
  184. Lettre, 2008, Identification of ten loci associated with height highlights new biological pathways in human growth, Nat Genet, 40, 584, 10.1038/ng.125 · DOI · Paper page
  185. Li, 2007, DNA architectural factor and proto-oncogene HMGA2 regulates key developmental genes in pluripotent human embryonic stem cells, FEBS Lett, 581, 3533, 10.1016/j.febslet.2007.06.072 · DOI
  186. Lanktree, 2011, Meta-analysis of dense genecentric association studies reveals common and uncommon variants associated with height, Am J Hum Genet, 88, 6, 10.1016/j.ajhg.2010.11.007 · DOI
  187. Gorbenko del Blanco, 2011, Isolated GH deficiency: mutation screening and copy number analysis of HMGA2 and CDK6 genes, Eur J Endocrinol, 165, 537, 10.1530/EJE-11-0478 · DOI
  188. Brants, 2004, Differential regulation of the insulin-like growth factor II mRNA-binding protein genes by architectural transcription factor HMGA2, FEBS Lett, 569, 277, 10.1016/j.febslet.2004.05.075 · DOI
  189. Taylor, 2012, Hypothalamic-pituitary lesions in pediatric patients: endocrine symptoms often precede neuro-ophthalmic presenting symptoms, J Pediatr, 161, 855, 10.1016/j.jpeds.2012.05.014 · DOI
  190. Einaudi, 2007, The effects of head trauma on hypothalamic-pituitary function in children and adolescents, Curr Opin Pediatr, 19, 465, 10.1097/MOP.0b013e3281ab6eeb · DOI · Paper page
  191. Sekine, 2002, Craniopharyngiomas of adamantinomatous type harbor β-catenin gene mutations, Am J Pathol, 161, 1997, 10.1016/S0002-9440(10)64477-X · DOI · Paper page
  192. Buslei, 2005, Common mutations of β-catenin in adamantinomatous craniopharyngiomas but not in other tumours originating from the sellar region, Acta Neuropathol, 109, 589, 10.1007/s00401-005-1004-x · DOI · Paper page
  193. Gaston-Massuet, 2011, Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans, Proc Natl Acad Sci U S A, 108, 11482, 10.1073/pnas.1101553108 · DOI · Paper page
  194. Olson, 2006, Homeodomain-mediated β-catenin-dependent switching events dictate cell-lineage determination, Cell, 125, 593, 10.1016/j.cell.2006.02.046 · DOI · Paper page
  195. Agha, 2006, Anterior pituitary dysfunction following traumatic brain injury (TBI), Clin Endocrinol (Oxf), 64, 481, 10.1111/j.1365-2265.2006.02517.x · DOI · Paper page
  196. McDonald, 2008, Traumatic brain injury is a rarely reported cause of growth hormone deficiency, J Pediatr, 152, 590, 10.1016/j.jpeds.2007.12.046 · DOI
  197. Fofanova, 2006, A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency, Hormones (Athens), 5, 288, 10.14310/horm.2002.11194 · doi:10.14310/horm.2002.11194
  198. Caturegli, 2005, Autoimmune hypophysitis, Endocr Rev, 26, 599, 10.1210/er.2004-0011 · DOI · Paper page
  199. Bensing, 2007, Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1, Proc Natl Acad Sci U S A, 104, 949, 10.1073/pnas.0610070104 · DOI
  200. Smith, 2012, Identification of TPIT and other novel autoantigens in lymphocytic hypophysitis: immunoscreening of a pituitary cDNA library and development of immunoprecipitation assays, Eur J Endocrinol, 166, 391, 10.1530/EJE-11-1015 · DOI

200 of 458 shown

Cited by

See all 134

Metadata

Authors
Alatzoglou, K. S., Webb, E. A., Le Tissier, P., & Dattani, M. T.
Affiliations
  • Developmental Endocrinology Research Group (K.S.A., E.A.W., M.T.D.), Clinical and Molecular Genetics Unit, and Birth Defects Research Centre (P.L.T.), UCL Institute of Child Health, London WC1N 1EH, United Kingdom;
  • Faculty of Life Sciences (P.L.T.), University of Manchester, Manchester M13 9PT, United Kingdom
Venue
Endocrine Reviews
Published
2014-01-22
Volume
35
Issue
3
Pages
376-432
ISSN
  • 0163-769X
  • 1945-7189
Cited by
134
References
35
Language
en

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Data sources

Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.