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. 1998 Mar;78(3):278–284. doi: 10.1136/adc.78.3.278

Advances in endocrinology

P Clayton 1, V Tillmann 1
PMCID: PMC1717512  PMID: 9613366

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Selected References

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  1. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. Nat Genet. 1995 Oct;11(2):130–136. doi: 10.1038/ng1095-130. [DOI] [PubMed] [Google Scholar]
  2. Ahima R. S., Dushay J., Flier S. N., Prabakaran D., Flier J. S. Leptin accelerates the onset of puberty in normal female mice. J Clin Invest. 1997 Feb 1;99(3):391–395. doi: 10.1172/JCI119172. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Ahima R. S., Prabakaran D., Mantzoros C., Qu D., Lowell B., Maratos-Flier E., Flier J. S. Role of leptin in the neuroendocrine response to fasting. Nature. 1996 Jul 18;382(6588):250–252. doi: 10.1038/382250a0. [DOI] [PubMed] [Google Scholar]
  4. Aittomäki K., Lucena J. L., Pakarinen P., Sistonen P., Tapanainen J., Gromoll J., Kaskikari R., Sankila E. M., Lehväslaiho H., Engel A. R. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell. 1995 Sep 22;82(6):959–968. doi: 10.1016/0092-8674(95)90275-9. [DOI] [PubMed] [Google Scholar]
  5. Arnold A., Horst S. A., Gardella T. J., Baba H., Levine M. A., Kronenberg H. M. Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. J Clin Invest. 1990 Oct;86(4):1084–1087. doi: 10.1172/JCI114811. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Ayling R. M., Ross R., Towner P., Von Laue S., Finidori J., Moutoussamy S., Buchanan C. R., Clayton P. E., Norman M. R. A dominant-negative mutation of the growth hormone receptor causes familial short stature. Nat Genet. 1997 May;16(1):13–14. doi: 10.1038/ng0597-13. [DOI] [PubMed] [Google Scholar]
  7. Bahnsen U., Oosting P., Swaab D. F., Nahke P., Richter D., Schmale H. A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus. EMBO J. 1992 Jan;11(1):19–23. doi: 10.1002/j.1460-2075.1992.tb05022.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Barash I. A., Cheung C. C., Weigle D. S., Ren H., Kabigting E. B., Kuijper J. L., Clifton D. K., Steiner R. A. Leptin is a metabolic signal to the reproductive system. Endocrinology. 1996 Jul;137(7):3144–3147. doi: 10.1210/endo.137.7.8770941. [DOI] [PubMed] [Google Scholar]
  9. Barker D. J. Fetal origins of coronary heart disease. BMJ. 1995 Jul 15;311(6998):171–174. doi: 10.1136/bmj.311.6998.171. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Barker D. J., Gluckman P. D., Godfrey K. M., Harding J. E., Owens J. A., Robinson J. S. Fetal nutrition and cardiovascular disease in adult life. Lancet. 1993 Apr 10;341(8850):938–941. doi: 10.1016/0140-6736(93)91224-a. [DOI] [PubMed] [Google Scholar]
  11. Bellus G. A., McIntosh I., Smith E. A., Aylsworth A. S., Kaitila I., Horton W. A., Greenhaw G. A., Hecht J. T., Francomano C. A. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet. 1995 Jul;10(3):357–359. doi: 10.1038/ng0795-357. [DOI] [PubMed] [Google Scholar]
  12. Bichet D. G., Arthus M. F., Lonergan M., Hendy G. N., Paradis A. J., Fujiwara T. M., Morgan K., Gregory M. C., Rosenthal W., Didwania A. X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis. J Clin Invest. 1993 Sep;92(3):1262–1268. doi: 10.1172/JCI116698. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Blethen S. L., Baptista J., Kuntze J., Foley T., LaFranchi S., Johanson A. Adult height in growth hormone (GH)-deficient children treated with biosynthetic GH. The Genentech Growth Study Group. J Clin Endocrinol Metab. 1997 Feb;82(2):418–420. doi: 10.1210/jcem.82.2.3734. [DOI] [PubMed] [Google Scholar]
  14. Campfield L. A., Smith F. J., Burn P. The OB protein (leptin) pathway--a link between adipose tissue mass and central neural networks. Horm Metab Res. 1996 Dec;28(12):619–632. doi: 10.1055/s-2007-979867. [DOI] [PubMed] [Google Scholar]
  15. Campfield L. A., Smith F. J., Guisez Y., Devos R., Burn P. Recombinant mouse OB protein: evidence for a peripheral signal linking adiposity and central neural networks. Science. 1995 Jul 28;269(5223):546–549. doi: 10.1126/science.7624778. [DOI] [PubMed] [Google Scholar]
  16. Carter-Su C., Schwartz J., Smit L. S. Molecular mechanism of growth hormone action. Annu Rev Physiol. 1996;58:187–207. doi: 10.1146/annurev.ph.58.030196.001155. [DOI] [PubMed] [Google Scholar]
  17. Chehab F. F., Lim M. E., Lu R. Correction of the sterility defect in homozygous obese female mice by treatment with the human recombinant leptin. Nat Genet. 1996 Mar;12(3):318–320. doi: 10.1038/ng0396-318. [DOI] [PubMed] [Google Scholar]
  18. Chehab F. F., Mounzih K., Lu R., Lim M. E. Early onset of reproductive function in normal female mice treated with leptin. Science. 1997 Jan 3;275(5296):88–90. doi: 10.1126/science.275.5296.88. [DOI] [PubMed] [Google Scholar]
  19. Chen H., Charlat O., Tartaglia L. A., Woolf E. A., Weng X., Ellis S. J., Lakey N. D., Culpepper J., Moore K. J., Breitbart R. E. Evidence that the diabetes gene encodes the leptin receptor: identification of a mutation in the leptin receptor gene in db/db mice. Cell. 1996 Feb 9;84(3):491–495. doi: 10.1016/s0092-8674(00)81294-5. [DOI] [PubMed] [Google Scholar]
  20. Chernausek S. D., Breen T. J., Frank G. R. Linear growth in response to growth hormone treatment in children with short stature associated with intrauterine growth retardation: the National Cooperative Growth Study experience. J Pediatr. 1996 May;128(5 Pt 2):S22–S27. doi: 10.1016/s0022-3476(96)70006-9. [DOI] [PubMed] [Google Scholar]
  21. Cheung C. C., Thornton J. E., Kuijper J. L., Weigle D. S., Clifton D. K., Steiner R. A. Leptin is a metabolic gate for the onset of puberty in the female rat. Endocrinology. 1997 Feb;138(2):855–858. doi: 10.1210/endo.138.2.5054. [DOI] [PubMed] [Google Scholar]
  22. Cioffi J. A., Shafer A. W., Zupancic T. J., Smith-Gbur J., Mikhail A., Platika D., Snodgrass H. R. Novel B219/OB receptor isoforms: possible role of leptin in hematopoiesis and reproduction. Nat Med. 1996 May;2(5):585–589. doi: 10.1038/nm0596-585. [DOI] [PubMed] [Google Scholar]
  23. Clark P. M., Hindmarsh P. C., Shiell A. W., Law C. M., Honour J. W., Barker D. J. Size at birth and adrenocortical function in childhood. Clin Endocrinol (Oxf) 1996 Dec;45(6):721–726. doi: 10.1046/j.1365-2265.1996.8560864.x. [DOI] [PubMed] [Google Scholar]
  24. Clayton P. E., Gill M. S., Hall C. M., Tillmann V., Whatmore A. J., Price D. A. Serum leptin through childhood and adolescence. Clin Endocrinol (Oxf) 1997 Jun;46(6):727–733. doi: 10.1046/j.1365-2265.1997.2081026.x. [DOI] [PubMed] [Google Scholar]
  25. Considine R. V., Sinha M. K., Heiman M. L., Kriauciunas A., Stephens T. W., Nyce M. R., Ohannesian J. P., Marco C. C., McKee L. J., Bauer T. L. Serum immunoreactive-leptin concentrations in normal-weight and obese humans. N Engl J Med. 1996 Feb 1;334(5):292–295. doi: 10.1056/NEJM199602013340503. [DOI] [PubMed] [Google Scholar]
  26. Deen P. M., Verdijk M. A., Knoers N. V., Wieringa B., Monnens L. A., van Os C. H., van Oost B. A. Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. Science. 1994 Apr 1;264(5155):92–95. doi: 10.1126/science.8140421. [DOI] [PubMed] [Google Scholar]
  27. Duprez L., Parma J., Van Sande J., Allgeier A., Leclère J., Schvartz C., Delisle M. J., Decoulx M., Orgiazzi J., Dumont J. Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nat Genet. 1994 Jul;7(3):396–401. doi: 10.1038/ng0794-396. [DOI] [PubMed] [Google Scholar]
  28. Duquesnoy P., Sobrier M. L., Duriez B., Dastot F., Buchanan C. R., Savage M. O., Preece M. A., Craescu C. T., Blouquit Y., Goossens M. A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization. EMBO J. 1994 Mar 15;13(6):1386–1395. doi: 10.1002/j.1460-2075.1994.tb06392.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  29. Fall C. H., Pandit A. N., Law C. M., Yajnik C. S., Clark P. M., Breier B., Osmond C., Shiell A. W., Gluckman P. D., Barker D. J. Size at birth and plasma insulin-like growth factor-1 concentrations. Arch Dis Child. 1995 Oct;73(4):287–293. doi: 10.1136/adc.73.4.287. [DOI] [PMC free article] [PubMed] [Google Scholar]
  30. Foster J. W., Dominguez-Steglich M. A., Guioli S., Kwok C., Weller P. A., Stevanović M., Weissenbach J., Mansour S., Young I. D., Goodfellow P. N. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature. 1994 Dec 8;372(6506):525–530. doi: 10.1038/372525a0. [DOI] [PubMed] [Google Scholar]
  31. Frampton R. J., Jonas H. A., MacMahon R. A., Larkins R. G. Failure of IGF-1 to affect protein turnover in muscle from growth-retarded neonatal rats. J Dev Physiol. 1990 Mar;13(3):125–133. [PubMed] [Google Scholar]
  32. Freeth J. S., Ayling R. M., Whatmore A. J., Towner P., Price D. A., Norman M. R., Clayton P. E. Human skin fibroblasts as a model of growth hormone (GH) action in GH receptor-positive Laron's syndrome. Endocrinology. 1997 Jan;138(1):55–61. doi: 10.1210/endo.138.1.4853. [DOI] [PubMed] [Google Scholar]
  33. Gluckman P. D., Cutfield W., Harding J. E., Milner D., Jensen E., Woodhall S., Gallaher B., Bauer M., Breier B. H. Metabolic consequences of intrauterine growth retardation. Acta Paediatr Suppl. 1996 Oct;417:3–7. doi: 10.1111/j.1651-2227.1996.tb14282.x. [DOI] [PubMed] [Google Scholar]
  34. Goddard A. D., Covello R., Luoh S. M., Clackson T., Attie K. M., Gesundheit N., Rundle A. C., Wells J. A., Carlsson L. M. Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group. N Engl J Med. 1995 Oct 26;333(17):1093–1098. doi: 10.1056/NEJM199510263331701. [DOI] [PubMed] [Google Scholar]
  35. Godfrey P., Rahal J. O., Beamer W. G., Copeland N. G., Jenkins N. A., Mayo K. E. GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function. Nat Genet. 1993 Jul;4(3):227–232. doi: 10.1038/ng0793-227. [DOI] [PubMed] [Google Scholar]
  36. Gromoll J., Simoni M., Nieschlag E. An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man. J Clin Endocrinol Metab. 1996 Apr;81(4):1367–1370. doi: 10.1210/jcem.81.4.8636335. [DOI] [PubMed] [Google Scholar]
  37. Halaas J. L., Gajiwala K. S., Maffei M., Cohen S. L., Chait B. T., Rabinowitz D., Lallone R. L., Burley S. K., Friedman J. M. Weight-reducing effects of the plasma protein encoded by the obese gene. Science. 1995 Jul 28;269(5223):543–546. doi: 10.1126/science.7624777. [DOI] [PubMed] [Google Scholar]
  38. Hardelin J. P., Levilliers J., Young J., Pholsena M., Legouis R., Kirk J., Bouloux P., Petit C., Schaison G. Xp22.3 deletions in isolated familial Kallmann's syndrome. J Clin Endocrinol Metab. 1993 Apr;76(4):827–831. doi: 10.1210/jcem.76.4.8473391. [DOI] [PubMed] [Google Scholar]
  39. Hawkins J. R., Taylor A., Goodfellow P. N., Migeon C. J., Smith K. D., Berkovitz G. D. Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. Am J Hum Genet. 1992 Nov;51(5):979–984. [PMC free article] [PubMed] [Google Scholar]
  40. Hindmarsh P. C., Brook C. G. Final height of short normal children treated with growth hormone. Lancet. 1996 Jul 6;348(9019):13–16. doi: 10.1016/s0140-6736(96)01038-0. [DOI] [PubMed] [Google Scholar]
  41. Hofman P. L., Cutfield W. S., Robinson E. M., Bergman R. N., Menon R. K., Sperling M. A., Gluckman P. D. Insulin resistance in short children with intrauterine growth retardation. J Clin Endocrinol Metab. 1997 Feb;82(2):402–406. doi: 10.1210/jcem.82.2.3752. [DOI] [PubMed] [Google Scholar]
  42. Hästbacka J., Superti-Furga A., Wilcox W. R., Rimoin D. L., Cohn D. H., Lander E. S. Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet. 1996 Feb;58(2):255–262. [PMC free article] [PubMed] [Google Scholar]
  43. Hästbacka J., de la Chapelle A., Mahtani M. M., Clines G., Reeve-Daly M. P., Daly M., Hamilton B. A., Kusumi K., Trivedi B., Weaver A. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell. 1994 Sep 23;78(6):1073–1087. doi: 10.1016/0092-8674(94)90281-x. [DOI] [PubMed] [Google Scholar]
  44. Iiri T., Herzmark P., Nakamoto J. M., van Dop C., Bourne H. R. Rapid GDP release from Gs alpha in patients with gain and loss of endocrine function. Nature. 1994 Sep 8;371(6493):164–168. doi: 10.1038/371164a0. [DOI] [PubMed] [Google Scholar]
  45. Imbeaud S., Faure E., Lamarre I., Mattéi M. G., di Clemente N., Tizard R., Carré-Eusèbe D., Belville C., Tragethon L., Tonkin C. Insensitivity to anti-müllerian hormone due to a mutation in the human anti-müllerian hormone receptor. Nat Genet. 1995 Dec;11(4):382–388. doi: 10.1038/ng1295-382. [DOI] [PubMed] [Google Scholar]
  46. Ito M., Mori Y., Oiso Y., Saito H. A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. J Clin Invest. 1991 Feb;87(2):725–728. doi: 10.1172/JCI115052. [DOI] [PMC free article] [PubMed] [Google Scholar]
  47. Jäger R. J., Harley V. R., Pfeiffer R. A., Goodfellow P. N., Scherer G. A familial mutation in the testis-determining gene SRY shared by both sexes. Hum Genet. 1992 Dec;90(4):350–355. doi: 10.1007/BF00220457. [DOI] [PubMed] [Google Scholar]
  48. Kane C., Shepherd R. M., Squires P. E., Johnson P. R., James R. F., Milla P. J., Aynsley-Green A., Lindley K. J., Dunne M. J. Loss of functional KATP channels in pancreatic beta-cells causes persistent hyperinsulinemic hypoglycemia of infancy. Nat Med. 1996 Dec;2(12):1344–1347. doi: 10.1038/nm1296-1344. [DOI] [PubMed] [Google Scholar]
  49. Kopp P., van Sande J., Parma J., Duprez L., Gerber H., Joss E., Jameson J. L., Dumont J. E., Vassart G. Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. N Engl J Med. 1995 Jan 19;332(3):150–154. doi: 10.1056/NEJM199501193320304. [DOI] [PubMed] [Google Scholar]
  50. Kramer M. S., Joseph K. S. Enigma of fetal/infant-origins hypothesis. Lancet. 1996 Nov 9;348(9037):1254–1255. doi: 10.1016/s0140-6736(05)65750-9. [DOI] [PubMed] [Google Scholar]
  51. Kremer H., Kraaij R., Toledo S. P., Post M., Fridman J. B., Hayashida C. Y., van Reen M., Milgrom E., Ropers H. H., Mariman E. Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nat Genet. 1995 Feb;9(2):160–164. doi: 10.1038/ng0295-160. [DOI] [PubMed] [Google Scholar]
  52. Langley S. C., Jackson A. A. Increased systolic blood pressure in adult rats induced by fetal exposure to maternal low protein diets. Clin Sci (Lond) 1994 Feb;86(2):217–121. doi: 10.1042/cs0860217. [DOI] [PubMed] [Google Scholar]
  53. Lee G. H., Proenca R., Montez J. M., Carroll K. M., Darvishzadeh J. G., Lee J. I., Friedman J. M. Abnormal splicing of the leptin receptor in diabetic mice. Nature. 1996 Feb 15;379(6566):632–635. doi: 10.1038/379632a0. [DOI] [PubMed] [Google Scholar]
  54. Lindley K. J., Dunne M. J., Kane C., Shepherd R. M., Squires P. E., James R. F., Johnson P. R., Eckhardt S., Wakeling E., Dattani M. Ionic control of beta cell function in nesidioblastosis. A possible therapeutic role for calcium channel blockade. Arch Dis Child. 1996 May;74(5):373–378. doi: 10.1136/adc.74.5.373. [DOI] [PMC free article] [PubMed] [Google Scholar]
  55. Loche S., Cambiaso P., Setzu S., Carta D., Marini R., Borrelli P., Cappa M. Final height after growth hormone therapy in non-growth-hormone-deficient children with short stature. J Pediatr. 1994 Aug;125(2):196–200. doi: 10.1016/s0022-3476(94)70192-x. [DOI] [PubMed] [Google Scholar]
  56. Maffei M., Halaas J., Ravussin E., Pratley R. E., Lee G. H., Zhang Y., Fei H., Kim S., Lallone R., Ranganathan S. Leptin levels in human and rodent: measurement of plasma leptin and ob RNA in obese and weight-reduced subjects. Nat Med. 1995 Nov;1(11):1155–1161. doi: 10.1038/nm1195-1155. [DOI] [PubMed] [Google Scholar]
  57. Matthes J. W., Lewis P. A., Davies D. P., Bethel J. A. Relation between birth weight at term and systolic blood pressure in adolescence. BMJ. 1994 Apr 23;308(6936):1074–1077. doi: 10.1136/bmj.308.6936.1074. [DOI] [PMC free article] [PubMed] [Google Scholar]
  58. Matthews C. H., Borgato S., Beck-Peccoz P., Adams M., Tone Y., Gambino G., Casagrande S., Tedeschini G., Benedetti A., Chatterjee V. K. Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone. Nat Genet. 1993 Sep;5(1):83–86. doi: 10.1038/ng0993-83. [DOI] [PubMed] [Google Scholar]
  59. Montague C. T., Farooqi I. S., Whitehead J. P., Soos M. A., Rau H., Wareham N. J., Sewter C. P., Digby J. E., Mohammed S. N., Hurst J. A. Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature. 1997 Jun 26;387(6636):903–908. doi: 10.1038/43185. [DOI] [PubMed] [Google Scholar]
  60. Morishima A., Grumbach M. M., Simpson E. R., Fisher C., Qin K. Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. J Clin Endocrinol Metab. 1995 Dec;80(12):3689–3698. doi: 10.1210/jcem.80.12.8530621. [DOI] [PubMed] [Google Scholar]
  61. Mounzih K., Lu R., Chehab F. F. Leptin treatment rescues the sterility of genetically obese ob/ob males. Endocrinology. 1997 Mar;138(3):1190–1193. doi: 10.1210/endo.138.3.5024. [DOI] [PubMed] [Google Scholar]
  62. Muscatelli F., Strom T. M., Walker A. P., Zanaria E., Récan D., Meindl A., Bardoni B., Guioli S., Zehetner G., Rabl W. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature. 1994 Dec 15;372(6507):672–676. doi: 10.1038/372672a0. [DOI] [PubMed] [Google Scholar]
  63. Nilsson K. O., Albertsson-Wikland K., Alm J., Aronson S., Gustafsson J., Hagenäs L., Häger A., Ivarsson S. A., Karlberg J., Kriström B. Improved final height in girls with Turner's syndrome treated with growth hormone and oxandrolone. J Clin Endocrinol Metab. 1996 Feb;81(2):635–640. doi: 10.1210/jcem.81.2.8636281. [DOI] [PubMed] [Google Scholar]
  64. Paneth N., Susser M. Early origin of coronary heart disease (the "Barker hypothesis") BMJ. 1995 Feb 18;310(6977):411–412. doi: 10.1136/bmj.310.6977.411. [DOI] [PMC free article] [PubMed] [Google Scholar]
  65. Parkinson D. B., Thakker R. V. A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Nat Genet. 1992 May;1(2):149–152. doi: 10.1038/ng0592-149. [DOI] [PubMed] [Google Scholar]
  66. Parma J., Duprez L., Van Sande J., Cochaux P., Gervy C., Mockel J., Dumont J., Vassart G. Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature. 1993 Oct 14;365(6447):649–651. doi: 10.1038/365649a0. [DOI] [PubMed] [Google Scholar]
  67. Patten J. L., Johns D. R., Valle D., Eil C., Gruppuso P. A., Steele G., Smallwood P. M., Levine M. A. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N Engl J Med. 1990 May 17;322(20):1412–1419. doi: 10.1056/NEJM199005173222002. [DOI] [PubMed] [Google Scholar]
  68. Pelleymounter M. A., Cullen M. J., Baker M. B., Hecht R., Winters D., Boone T., Collins F. Effects of the obese gene product on body weight regulation in ob/ob mice. Science. 1995 Jul 28;269(5223):540–543. doi: 10.1126/science.7624776. [DOI] [PubMed] [Google Scholar]
  69. Pfäffle R. W., DiMattia G. E., Parks J. S., Brown M. R., Wit J. M., Jansen M., Van der Nat H., Van den Brande J. L., Rosenfeld M. G., Ingraham H. A. Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. Science. 1992 Aug 21;257(5073):1118–1121. doi: 10.1126/science.257.5073.1118. [DOI] [PubMed] [Google Scholar]
  70. Phillips D. I., Barker D. J., Hales C. N., Hirst S., Osmond C. Thinness at birth and insulin resistance in adult life. Diabetologia. 1994 Feb;37(2):150–154. doi: 10.1007/s001250050086. [DOI] [PubMed] [Google Scholar]
  71. Pivnick E. K., Wachtel S., Woods D., Simpson J. L., Bishop C. E. Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis. Hum Genet. 1992 Nov;90(3):308–310. doi: 10.1007/BF00220087. [DOI] [PubMed] [Google Scholar]
  72. Pollak M. R., Brown E. M., Chou Y. H., Hebert S. C., Marx S. J., Steinmann B., Levi T., Seidman C. E., Seidman J. G. Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell. 1993 Dec 31;75(7):1297–1303. doi: 10.1016/0092-8674(93)90617-y. [DOI] [PubMed] [Google Scholar]
  73. Pollak M. R., Brown E. M., Estep H. L., McLaine P. N., Kifor O., Park J., Hebert S. C., Seidman C. E., Seidman J. G. Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Nat Genet. 1994 Nov;8(3):303–307. doi: 10.1038/ng1194-303. [DOI] [PubMed] [Google Scholar]
  74. Radovick S., Nations M., Du Y., Berg L. A., Weintraub B. D., Wondisford F. E. A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency. Science. 1992 Aug 21;257(5073):1115–1118. doi: 10.1126/science.257.5073.1115. [DOI] [PubMed] [Google Scholar]
  75. Rao E., Weiss B., Fukami M., Rump A., Niesler B., Mertz A., Muroya K., Binder G., Kirsch S., Winkelmann M. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet. 1997 May;16(1):54–63. doi: 10.1038/ng0597-54. [DOI] [PubMed] [Google Scholar]
  76. Rikken B., Massa G. G., Wit J. M. Final height in a large cohort of Dutch patients with growth hormone deficiency treated with growth hormone. Dutch Growth Hormone Working Group. Horm Res. 1995;43(4):135–137. doi: 10.1159/000184259. [DOI] [PubMed] [Google Scholar]
  77. Rochiccioli P., Battin J., Bertrand A. M., Bost M., Cabrol S., le Bouc Y., Chaussain J. L., Chatelain P., Colle M., Czernichow P. Final height in Turner syndrome patients treated with growth hormone. Horm Res. 1995;44(4):172–176. doi: 10.1159/000184620. [DOI] [PubMed] [Google Scholar]
  78. Rohner-Jeanrenaud F., Cusin I., Sainsbury A., Zakrzewska K. E., Jeanrenaud B. The loop system between neuropeptide Y and leptin in normal and obese rodents. Horm Metab Res. 1996 Dec;28(12):642–648. doi: 10.1055/s-2007-979870. [DOI] [PubMed] [Google Scholar]
  79. Rosenfeld R. G., Frane J., Attie K. M., Brasel J. A., Burstein S., Cara J. F., Chernausek S., Gotlin R. W., Kuntze J., Lippe B. M. Six-year results of a randomized, prospective trial of human growth hormone and oxandrolone in Turner syndrome. J Pediatr. 1992 Jul;121(1):49–55. doi: 10.1016/s0022-3476(05)82540-5. [DOI] [PubMed] [Google Scholar]
  80. Rosenfeld R. G., Rosenbloom A. L., Guevara-Aguirre J. Growth hormone (GH) insensitivity due to primary GH receptor deficiency. Endocr Rev. 1994 Jun;15(3):369–390. doi: 10.1210/edrv-15-3-369. [DOI] [PubMed] [Google Scholar]
  81. Rousseau F., Bonaventure J., Legeai-Mallet L., Pelet A., Rozet J. M., Maroteaux P., Le Merrer M., Munnich A. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature. 1994 Sep 15;371(6494):252–254. doi: 10.1038/371252a0. [DOI] [PubMed] [Google Scholar]
  82. Saladin R., Staels B., Auwerx J., Briggs M. Regulation of ob gene expression in rodents and humans. Horm Metab Res. 1996 Dec;28(12):638–641. doi: 10.1055/s-2007-979869. [DOI] [PubMed] [Google Scholar]
  83. Schipani E., Kruse K., Jüppner H. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science. 1995 Apr 7;268(5207):98–100. doi: 10.1126/science.7701349. [DOI] [PubMed] [Google Scholar]
  84. Schubring C., Kiess W., Englaro P., Rascher W., Dötsch J., Hanitsch S., Attanasio A., Blum W. F. Levels of leptin in maternal serum, amniotic fluid, and arterial and venous cord blood: relation to neonatal and placental weight. J Clin Endocrinol Metab. 1997 May;82(5):1480–1483. doi: 10.1210/jcem.82.5.3935. [DOI] [PubMed] [Google Scholar]
  85. Shenker A., Laue L., Kosugi S., Merendino J. J., Jr, Minegishi T., Cutler G. B., Jr A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature. 1993 Oct 14;365(6447):652–654. doi: 10.1038/365652a0. [DOI] [PubMed] [Google Scholar]
  86. Shenker A., Weinstein L. S., Moran A., Pescovitz O. H., Charest N. J., Boney C. M., Van Wyk J. J., Merino M. J., Feuillan P. P., Spiegel A. M. Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS. J Pediatr. 1993 Oct;123(4):509–518. doi: 10.1016/s0022-3476(05)80943-6. [DOI] [PubMed] [Google Scholar]
  87. Shiang R., Thompson L. M., Zhu Y. Z., Church D. M., Fielder T. J., Bocian M., Winokur S. T., Wasmuth J. J. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell. 1994 Jul 29;78(2):335–342. doi: 10.1016/0092-8674(94)90302-6. [DOI] [PubMed] [Google Scholar]
  88. Smith E. P., Boyd J., Frank G. R., Takahashi H., Cohen R. M., Specker B., Williams T. C., Lubahn D. B., Korach K. S. Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. N Engl J Med. 1994 Oct 20;331(16):1056–1061. doi: 10.1056/NEJM199410203311604. [DOI] [PubMed] [Google Scholar]
  89. Sobrier M. L., Dastot F., Duquesnoy P., Kandemir N., Yordam N., Goossens M., Amselem S. Nine novel growth hormone receptor gene mutations in patients with Laron syndrome. J Clin Endocrinol Metab. 1997 Feb;82(2):435–437. doi: 10.1210/jcem.82.2.3725. [DOI] [PubMed] [Google Scholar]
  90. Stephens T. W., Basinski M., Bristow P. K., Bue-Valleskey J. M., Burgett S. G., Craft L., Hale J., Hoffmann J., Hsiung H. M., Kriauciunas A. The role of neuropeptide Y in the antiobesity action of the obese gene product. Nature. 1995 Oct 12;377(6549):530–532. doi: 10.1038/377530a0. [DOI] [PubMed] [Google Scholar]
  91. Sunthornthepvarakui T., Gottschalk M. E., Hayashi Y., Refetoff S. Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med. 1995 Jan 19;332(3):155–160. doi: 10.1056/NEJM199501193320305. [DOI] [PubMed] [Google Scholar]
  92. Superti-Furga A., Hästbacka J., Wilcox W. R., Cohn D. H., van der Harten H. J., Rossi A., Blau N., Rimoin D. L., Steinmann B., Lander E. S. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet. 1996 Jan;12(1):100–102. doi: 10.1038/ng0196-100. [DOI] [PubMed] [Google Scholar]
  93. Taback S. P., Collu R., Deal C. L., Guyda H. J., Salisbury S., Dean H. J., Van Vliet G. Does growth-hormone supplementation affect adult height in Turner's syndrome? Lancet. 1996 Jul 6;348(9019):25–27. doi: 10.1016/s0140-6736(96)01267-6. [DOI] [PubMed] [Google Scholar]
  94. Takahashi Y., Kaji H., Okimura Y., Goji K., Abe H., Chihara K. Brief report: short stature caused by a mutant growth hormone. N Engl J Med. 1996 Feb 15;334(7):432–436. doi: 10.1056/NEJM199602153340704. [DOI] [PubMed] [Google Scholar]
  95. Tartaglia L. A., Dembski M., Weng X., Deng N., Culpepper J., Devos R., Richards G. J., Campfield L. A., Clark F. T., Deeds J. Identification and expression cloning of a leptin receptor, OB-R. Cell. 1995 Dec 29;83(7):1263–1271. doi: 10.1016/0092-8674(95)90151-5. [DOI] [PubMed] [Google Scholar]
  96. Tatsumi K., Miyai K., Notomi T., Kaibe K., Amino N., Mizuno Y., Kohno H. Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene. Nat Genet. 1992 Apr;1(1):56–58. doi: 10.1038/ng0492-56. [DOI] [PubMed] [Google Scholar]
  97. Tavormina P. L., Shiang R., Thompson L. M., Zhu Y. Z., Wilkin D. J., Lachman R. S., Wilcox W. R., Rimoin D. L., Cohn D. H., Wasmuth J. J. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet. 1995 Mar;9(3):321–328. doi: 10.1038/ng0395-321. [DOI] [PubMed] [Google Scholar]
  98. Thomas P. M., Cote G. J., Wohllk N., Haddad B., Mathew P. M., Rabl W., Aguilar-Bryan L., Gagel R. F., Bryan J. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science. 1995 Apr 21;268(5209):426–429. doi: 10.1126/science.7716548. [DOI] [PubMed] [Google Scholar]
  99. Tsigos C., Arai K., Hung W., Chrousos G. P. Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. J Clin Invest. 1993 Nov;92(5):2458–2461. doi: 10.1172/JCI116853. [DOI] [PMC free article] [PubMed] [Google Scholar]
  100. Tsigos C., Arai K., Latronico A. C., DiGeorge A. M., Rapaport R., Chrousos G. P. A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome. J Clin Endocrinol Metab. 1995 Jul;80(7):2186–2189. doi: 10.1210/jcem.80.7.7608277. [DOI] [PubMed] [Google Scholar]
  101. Tönshoff B., Fine R. N. Recombinant human growth hormone for children with renal failure. Adv Ren Replace Ther. 1996 Jan;3(1):37–47. doi: 10.1016/s1073-4449(96)80039-2. [DOI] [PubMed] [Google Scholar]
  102. Van den Broeck J., Massa G. G., Attanasio A., Matranga A., Chaussain J. L., Price D. A., Aarskog D., Wit J. M. Final height after long-term growth hormone treatment in Turner syndrome. European Study Group. J Pediatr. 1995 Nov;127(5):729–735. doi: 10.1016/s0022-3476(95)70161-3. [DOI] [PubMed] [Google Scholar]
  103. Wajnrajch M. P., Gertner J. M., Harbison M. D., Chua S. C., Jr, Leibel R. L. Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nat Genet. 1996 Jan;12(1):88–90. doi: 10.1038/ng0196-88. [DOI] [PubMed] [Google Scholar]
  104. Weber A., Toppari J., Harvey R. D., Klann R. C., Shaw N. J., Ricker A. T., Näntö-Salonen K., Bevan J. S., Clark A. J. Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families. J Clin Endocrinol Metab. 1995 Jan;80(1):65–71. doi: 10.1210/jcem.80.1.7829641. [DOI] [PubMed] [Google Scholar]
  105. Weigle D. S., Bukowski T. R., Foster D. C., Holderman S., Kramer J. M., Lasser G., Lofton-Day C. E., Prunkard D. E., Raymond C., Kuijper J. L. Recombinant ob protein reduces feeding and body weight in the ob/ob mouse. J Clin Invest. 1995 Oct;96(4):2065–2070. doi: 10.1172/JCI118254. [DOI] [PMC free article] [PubMed] [Google Scholar]
  106. Weinstein L. S., Gejman P. V., Friedman E., Kadowaki T., Collins R. M., Gershon E. S., Spiegel A. M. Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci U S A. 1990 Nov;87(21):8287–8290. doi: 10.1073/pnas.87.21.8287. [DOI] [PMC free article] [PubMed] [Google Scholar]
  107. Weinstein L. S., Shenker A., Gejman P. V., Merino M. J., Friedman E., Spiegel A. M. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med. 1991 Dec 12;325(24):1688–1695. doi: 10.1056/NEJM199112123252403. [DOI] [PubMed] [Google Scholar]
  108. Weiss J., Axelrod L., Whitcomb R. W., Harris P. E., Crowley W. F., Jameson J. L. Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone. N Engl J Med. 1992 Jan 16;326(3):179–183. doi: 10.1056/NEJM199201163260306. [DOI] [PubMed] [Google Scholar]
  109. Wit J. M., Boersma B., de Muinck Keizer-Schrama S. M., Nienhuis H. E., Oostdijk W., Otten B. J., Delemarre-Van de Waal H. A., Reeser M., Waelkens J. J., Rikken B. Long-term results of growth hormone therapy in children with short stature, subnormal growth rate and normal growth hormone response to secretagogues. Dutch Growth Hormone Working Group. Clin Endocrinol (Oxf) 1995 Apr;42(4):365–372. doi: 10.1111/j.1365-2265.1995.tb02644.x. [DOI] [PubMed] [Google Scholar]
  110. Woodall S. M., Breier B. H., Johnston B. M., Gluckman P. D. A model of intrauterine growth retardation caused by chronic maternal undernutrition in the rat: effects on the somatotrophic axis and postnatal growth. J Endocrinol. 1996 Aug;150(2):231–242. doi: 10.1677/joe.0.1500231. [DOI] [PubMed] [Google Scholar]
  111. Woods K. A., Camacho-Hübner C., Savage M. O., Clark A. J. Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. N Engl J Med. 1996 Oct 31;335(18):1363–1367. doi: 10.1056/NEJM199610313351805. [DOI] [PubMed] [Google Scholar]
  112. Zhang Y., Proenca R., Maffei M., Barone M., Leopold L., Friedman J. M. Positional cloning of the mouse obese gene and its human homologue. Nature. 1994 Dec 1;372(6505):425–432. doi: 10.1038/372425a0. [DOI] [PubMed] [Google Scholar]
  113. van Lieburg A. F., Verdijk M. A., Knoers V. V., van Essen A. J., Proesmans W., Mallmann R., Monnens L. A., van Oost B. A., van Os C. H., Deen P. M. Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. Am J Hum Genet. 1994 Oct;55(4):648–652. [PMC free article] [PubMed] [Google Scholar]

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