| 1 | AVP, DIR3
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| Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene.
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| de Fost M, van Trotsenburg AS, van Santen HM, Endert E, van den Elzen C, Kamsteeg EJ, Swaab DF, Fliers E.
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| Eur J Endocrinol 165(1):161-5. Epub 2011 Apr 15.
2011
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| 2 | AVP, DIR3
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| A novel splice site mutation of the arginine vasopressin-neurophysin II gene identified in a kindred with autosomal dominant familial neurohypophyseal diabetes insipidus.
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| Tae HJ, Baek KH, Shim SM, Yoo SJ, Kang MI, Cha BY, Lee KW, Son HY, Kang SK.
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| Mol Genet Metab 86(1-2):307-13. Epub 2005 Jul 11. 2005
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| 3 | AVP, DIR3
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| Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis.
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| Christensen JH, Siggaard C, Corydon TJ, deSanctis L, Kovacs L, Robertson GL, Gregersen N, Rittig S.
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| Eur J Hum Genet 12(1):44-51.
2004
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| 4 | AVP, DIR3
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| Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine(2) in the vasopressin moiety of the hormone precursor.
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| Rittig S, Siggaard C, Ozata M, Yetkin I, Gregersen N, Pedersen EB, Robertson GL.
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| J Clin Endocrinol Metab 87(7):3351-5. 2002
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| 5 | AVP, DIR3
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| Familial neurohypophyseal diabetes insipidus associated with a novel mutation in the vasopressin-neurophysin II gene.
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| Fujii H, Iida S, Moriwaki K.
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| Int J Mol Med 5(3):229-34. 2000
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| 6 | AVP, DIR3
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| A novel mutation (R97C) in the neurophysin moiety of prepro-vasopressin-neurophysin II associated with autosomal-dominant neurohypophyseal diabetes insipidus.
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| Rutishauser J, et al.
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| Mol Genet Metab 67(1):89-92. 1999
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| 7 | AVP, DIR3
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| Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin.
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| Willcutts MD, et al.
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| Hum Mol Genet 8(7):1303-1307. 1999
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| 8 | AVP, DIR3
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| Mutant vasopressin precursors that cause autosomal dominant neurohypophyseal diabetes insipidus retain dimerization and impair the secretion of wild-type proteins.
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| Ito M, et al.
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| J Biol Chem 274(13):9029-37. 1999
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| 9 | AVP, DIR3
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| Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation.
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| Siggaard C, et al.
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| J Clin Endocrinol Metab 84(8):2933-41 1999
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| 10 | AVP, DIR3
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| Two novel mutations of the vasopressin gene associated with familial diabetes insipidus and identification of an asymptomatic carrier infant.
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| Grant FD, Ahmadi A, Hosley CM, Majzoub JA.
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| J Clin Endocrinol Metab 83 : 3958-3964. 1998
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| 11 | AVP, DIR3
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| Heterogeneity in clinical manifestation of autosomal dominant neurohypophyseal diabetes insipidus caused by a mutation encoding Ala-1-Val in the signal peptide of the arginine vasopressin/neurophysin II/copeptin precursor.
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| Repaske DR, et al.
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| J Clin Endocrinol Metab 82 : 51-56. 1997
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| 12 | AVP, DIR3
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| Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23-->Val in neurophysin II.
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| Gagliardi PC, Bernasconi S, Repaske DR.
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| J Clin Endocrinol Metab 82(11):3643-6. 1997
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| 13 | AVP, DIR3
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| Idenditification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus.
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| Rittig S, et al.
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| Am J Hum Genet 58 : 107-117. 1996
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| 14 | AVP, DIR3
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| A novel point mutation in the translation initiation codon of the pre-pro-vasopressin-neurophysin II gene : cosegregation with morphological abnormalities and clinical symptoms in autosomal dominant neurohypophyseal diabetes insipidus.
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| Rutishauser J, et al.
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| J Clin Endocrinol Metab 81 : 192-198. 1996
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| 15 | AVP, DIR3
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| A new type of familial central diabetes insipidus caused by a single base substitution in the neurophysin II coding region of the vasopressin gene.
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| Ueta Y, et al.
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| J Clin Endocrinol Metab 81 : 1787-1790. 1996
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| 16 | AVP, DIR3
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| Recurrent mutations in the vasopressin-neurophysin II gene cause autosomal dominant neurohypophyseal diabetes insipidus.
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| Repaske DR, et al.
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| J Clin Endocrinol Metab 81 : 2328-2334. 1996
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| 17 | AVP, DIR3
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| Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus.
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| Nagasaki H, et al.
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| J Clin Endocrinol Metab 80 : 1352-1356. 1995
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| 18 | AVP, DIR3
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| Recurring dominant-negative mutations in the AVP-NPII gene cause neurohypophyseal diabetes insipidus. (abstr)
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| Repaske DR, et al.
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| Am J Hum Genet 55 : A239. 1994
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| 19 | AVP, DIR3
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| A De novo mutation in the coding sequence for neurophysin-II (Pro24-Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus.
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| Repaske DR, et al.
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| J Clin Endocrinol Metab 79 : 421-427. 1994
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| 20 | AVP, DIR3
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| Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation.
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| McLeod JF, et al.
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| J Clin Endocrinol Metab 77 : 599A-599G. 1993
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| 21 | AVP, DIR3
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| Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus.
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| Ito M, et al.
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| J Clin Invest 91 : 2565-2571. 1993
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| 22 | AVP, DIR3
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| A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus.
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| Bahnsen U, et al.
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| EMBO J 11 : 19-23. 1992
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| 23 | AVP, DIR3
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| A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus.
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| Ito M, et al.
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| J Clin Invest 87 : 725-728. 1991
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| 24 | AVP, DIR3
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| Molecular analysis of autosomal dominant neurohypophyseal diabetes insipidus.
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| Repaske DR, et al.
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| J Clin Endocrinol Metab 70 : 752-757. 1990
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