-
1
-
-
0035992791
-
Genetic defects in the development and function of the anterior pituitary gland
-
[Medline]
-
Cushman LJ, Showalter AD, Rhodes SJ. Genetic defects in the development and function of the anterior pituitary gland. Ann Med 2002;34:179-91. [Medline]
-
(2002)
Ann Med
, vol.34
, pp. 179-191
-
-
Cushman, L.J.1
Showalter, A.D.2
Rhodes, S.J.3
-
2
-
-
33847171542
-
The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism
-
[Medline] [CrossRef]
-
Kelberman D, Dattani MT. The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism. Ann Med 2006;38:560-77. [Medline] [CrossRef]
-
(2006)
Ann Med
, vol.38
, pp. 560-577
-
-
Kelberman, D.1
Dattani, M.T.2
-
3
-
-
84655169672
-
Genetic disorders of the pituitary
-
Review. [Medline]
-
Cohen LE. Genetic disorders of the pituitary. Curr Opin Endocrinol Diabetes Obes 2012;19:33-9 Review. [Medline]
-
(2012)
Curr Opin Endocrinol Diabetes Obes
, vol.19
, pp. 33-39
-
-
Cohen, L.E.1
-
4
-
-
79952501538
-
Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency
-
[Medline] [CrossRef]
-
Pfäffle R, Klammt J. Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency. Best Pract Res Clin Endocrinol Metab 2011;25:43-60. [Medline] [CrossRef]
-
(2011)
Best Pract Res Clin Endocrinol Metab
, vol.25
, pp. 43-60
-
-
Pfäffle, R.1
Klammt, J.2
-
5
-
-
82155173540
-
The role of homeodomain transcription factors in heritable pituitary disease
-
[Medline] [CrossRef]
-
Prince KL, Walvoord EC, Rhodes SJ. The role of homeodomain transcription factors in heritable pituitary disease. Nat Rev Endocrinol 2011;7:727-37. [Medline] [CrossRef]
-
(2011)
Nat Rev Endocrinol
, vol.7
, pp. 727-737
-
-
Prince, K.L.1
Walvoord, E.C.2
Rhodes, S.J.3
-
6
-
-
0031571641
-
Lhx4, a LIM homeobox gene
-
[Medline] [CrossRef]
-
Yamashita T, Moriyama K, Sheng HZ, Westphal H. Lhx4, a LIM homeobox gene. Genomics 1997;44:144-6. [Medline] [CrossRef]
-
(1997)
Genomics
, vol.44
, pp. 144-146
-
-
Yamashita, T.1
Moriyama, K.2
Sheng, H.Z.3
Westphal, H.4
-
7
-
-
0034607996
-
Identification of a conserved protein that interacts with specific LIM homeodomain transcription factors
-
[Medline] [CrossRef]
-
Howard PW, Maurer RA. Identification of a conserved protein that interacts with specific LIM homeodomain transcription factors. J Biol Chem 2000;275:13336-42. [Medline] [CrossRef]
-
(2000)
J Biol Chem
, vol.275
, pp. 13336-13342
-
-
Howard, P.W.1
Maurer, R.A.2
-
8
-
-
0030695926
-
Multistep control of pituitary organogenesis
-
[Medline] [CrossRef]
-
Sheng HZ, Moriyama K, Yamashita T, Li H, Potter SS, Mahon KA, et al. Multistep control of pituitary organogenesis. Science. 1997;278:1809-12. [Medline] [CrossRef]
-
(1997)
Science.
, vol.278
, pp. 1809-1812
-
-
Sheng, H.Z.1
Moriyama, K.2
Yamashita, T.3
Li, H.4
Potter, S.S.5
Mahon, K.A.6
-
9
-
-
0036745788
-
Lhx4 and Prop1 are required for cell survival and expansion of the pituitary primordia
-
[Medline]
-
Raetzman LT, Ward R, Camper SA. Lhx4 and Prop1 are required for cell survival and expansion of the pituitary primordia. Development 2002;129:4229-39. [Medline]
-
(2002)
Development
, vol.129
, pp. 4229-4239
-
-
Raetzman, L.T.1
Ward, R.2
Camper, S.A.3
-
10
-
-
0034760533
-
Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4
-
[Medline] [CrossRef]
-
Machinis K, Pantel J, Netchine I, Léger J, Camand OJ, Sobrier ML, et al. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. Am J Hum Genet 2001;69:961-8. [Medline] [CrossRef]
-
(2001)
Am J Hum Genet
, vol.69
, pp. 961-968
-
-
McHinis, K.1
Pantel, J.2
Netchine, I.3
Léger, J.4
Camand, O.J.5
Sobrier, M.L.6
-
11
-
-
24344466913
-
Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects
-
[Medline] [CrossRef]
-
Machinis K, Amselem S. Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects. J Clin Endocrinol Metab 2005;90:5456-62. [Medline] [CrossRef]
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 5456-5462
-
-
McHinis, K.1
Amselem, S.2
-
12
-
-
40849095909
-
Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies
-
[Medline] [CrossRef]
-
Pfaeffle RW, Hunter CS, Savage JJ, Duran-Prado M, Mullen RD, Neeb ZP, et al. Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies. J Clin Endocrinol Metab 2008;93:1062-71. [Medline] [CrossRef]
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 1062-1071
-
-
Pfaeffle, R.W.1
Hunter, C.S.2
Savage, J.J.3
Duran-Prado, M.4
Mullen, R.D.5
Neeb, Z.P.6
-
13
-
-
47549088662
-
A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism
-
[Medline] [CrossRef]
-
Castinetti F, Saveanu A, Reynaud R, Quentien MH, Buffin A, Brauner R, et al. A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism. J Clin Endocrinol Metab 2008;93:2790-9. [Medline] [CrossRef]
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 2790-2799
-
-
Castinetti, F.1
Saveanu, A.2
Reynaud, R.3
Quentien, M.H.4
Buffin, A.5
Brauner, R.6
-
14
-
-
77955391808
-
Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: Identification of a single patient with LHX4 deletion
-
[Medline] [CrossRef]
-
Dateki S, Fukami M, Uematsu A, Kaji M, Iso M, Ono M, et al. Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion. J Clin Endocrinol Metab 2010;95:4043-7. [Medline] [CrossRef]
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 4043-4047
-
-
Dateki, S.1
Fukami, M.2
Uematsu, A.3
Kaji, M.4
Iso, M.5
Ono, M.6
-
15
-
-
84856531407
-
Panhypopituitarism presenting as lifethreatening heart failure caused by an inherited microdeletion in 1q25 including LHX4
-
[Medline] [CrossRef]
-
Filges I, Bischof-Renner A, Röthlisberger B, Potthoff C, Glanzmann R, Günthard J, et al. Panhypopituitarism presenting as lifethreatening heart failure caused by an inherited microdeletion in 1q25 including LHX4. Pediatrics 2012;129:e529-34. [Medline] [CrossRef]
-
(2012)
Pediatrics
, vol.129
-
-
Filges, I.1
Bischof-Renner, A.2
Röthlisberger, B.3
Potthoff, C.4
Glanzmann, R.5
Günthard, J.6
-
16
-
-
84866683883
-
Gradual loss of ACTH due to a novel mutation in LHX4: Comprehensive mutation screening in Japanese patients with congenital hypopituitarism
-
[Medline] [CrossRef]
-
Takagi M, Ishii T, Inokuchi M, Amano N, Narumi S, Asakura Y, et al. Gradual loss of ACTH due to a novel mutation in LHX4: Comprehensive mutation screening in Japanese patients with congenital hypopituitarism. PLoS One. 2012;7:e46008. [Medline] [CrossRef]
-
(2012)
PLoS One.
, vol.7
-
-
Takagi, M.1
Ishii, T.2
Inokuchi, M.3
Amano, N.4
Narumi, S.5
Asakura, Y.6
-
17
-
-
34548696653
-
A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica
-
[Medline] [CrossRef]
-
Tajima T, Hattori T, Nakajima T, Okuhara K, Tsubaki J, Fujieda K. A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica. Endocr J 2007;54:637-41. [Medline] [CrossRef]
-
(2007)
Endocr J
, vol.54
, pp. 637-641
-
-
Tajima, T.1
Hattori, T.2
Nakajima, T.3
Okuhara, K.4
Tsubaki, J.5
Fujieda, K.6
-
18
-
-
77954882469
-
A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency
-
[Medline] [CrossRef]
-
Tajima T, Yorifuji T, Ishizu K, Fujieda K. A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency. Exp Clin Endocrinol Diabetes 2010;118:405-9. [Medline] [CrossRef]
-
(2010)
Exp Clin Endocrinol Diabetes
, vol.118
, pp. 405-409
-
-
Tajima, T.1
Yorifuji, T.2
Ishizu, K.3
Fujieda, K.4
-
19
-
-
0027981567
-
Chromosome locations of human EMX and OTX genes
-
[Medline] [CrossRef]
-
Kastury K, Druck T, Huebner K, Barletta C, Acampora D, Simeone A, et al. Chromosome locations of human EMX and OTX genes. Genomics 1994;22:41-5. [Medline] [CrossRef]
-
(1994)
Genomics
, vol.22
, pp. 41-45
-
-
Kastury, K.1
Druck, T.2
Huebner, K.3
Barletta, C.4
Acampora, D.5
Simeone, A.6
-
20
-
-
33745611379
-
Molecular dissection reveals decreased activity and not dominant negative effect in human OTX2 mutants
-
[Medline] [CrossRef]
-
Chatelain G, Fossat N, Brun G, Lamonerie T. Molecular dissection reveals decreased activity and not dominant negative effect in human OTX2 mutants. J Mol Med 2006;84:604-15. [Medline] [CrossRef]
-
(2006)
J Mol Med
, vol.84
, pp. 604-615
-
-
Chatelain, G.1
Fossat, N.2
Brun, G.3
Lamonerie, T.4
-
21
-
-
0028807157
-
Forebrain and midbrain regions are deleted in Otx2-/-mutants due to a defective anterior neuroectoderm specification during gastrulation
-
[Medline]
-
Acampora D, Mazan S, Lallemand Y, Avantaggiato V, Maury M, Simeone A, et al. Forebrain and midbrain regions are deleted in Otx2-/-mutants due to a defective anterior neuroectoderm specification during gastrulation. Development 1995;121:3279-90. [Medline]
-
(1995)
Development
, vol.121
, pp. 3279-3290
-
-
Acampora, D.1
Mazan, S.2
Lallemand, Y.3
Avantaggiato, V.4
Maury, M.5
Simeone, A.6
-
22
-
-
0030050751
-
A targeted mouse Otx2 mutation leads to severe defects in gastrulation and formation of axial mesoderm and to deletion of rostral brain
-
[Medline]
-
Ang SL, Jin O, Rhinn M, Daigle N, Stevenson L, Rossant J. A targeted mouse Otx2 mutation leads to severe defects in gastrulation and formation of axial mesoderm and to deletion of rostral brain. Development 1996;122:243-52. [Medline]
-
(1996)
Development
, vol.122
, pp. 243-252
-
-
Ang, S.L.1
Jin, O.2
Rhinn, M.3
Daigle, N.4
Stevenson, L.5
Rossant, J.6
-
23
-
-
4243198352
-
Regulation of Otx2 expression and its functions in mouse forebrain and midbrain
-
[Medline] [CrossRef]
-
Kurokawa D, Kiyonari H, Nakayama R, Kimura-Yoshida C, Matsuo I, Aizawa S, et al. Regulation of Otx2 expression and its functions in mouse forebrain and midbrain. Development 2004;131:3319-31. [Medline] [CrossRef]
-
(2004)
Development
, vol.131
, pp. 3319-3331
-
-
Kurokawa, D.1
Kiyonari, H.2
Nakayama, R.3
Kimura-Yoshida, C.4
Matsuo, I.5
Aizawa, S.6
-
24
-
-
0036744490
-
Genetic modifiers of otocephalic phenotypes in Otx2 heterozygous mutant mice
-
[Medline]
-
Hide T, Hatakeyama J, Kimura-Yoshida C, Tian E, Takeda N, Ushio Y, et al. Genetic modifiers of otocephalic phenotypes in Otx2 heterozygous mutant mice. Development 2002;129:4347-57. [Medline]
-
(2002)
Development
, vol.129
, pp. 4347-4357
-
-
Hide, T.1
Hatakeyama, J.2
Kimura-Yoshida, C.3
Tian, E.4
Takeda, N.5
Ushio, Y.6
-
25
-
-
21044452878
-
Heterozygous mutations of OTX2 cause severe ocular malformations
-
[Medline] [CrossRef]
-
Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, et al. Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet 2005;76:1008-22. [Medline] [CrossRef]
-
(2005)
Am J Hum Genet
, vol.76
, pp. 1008-1022
-
-
Ragge, N.K.1
Brown, A.G.2
Poloschek, C.M.3
Lorenz, B.4
Henderson, R.A.5
Clarke, M.P.6
-
26
-
-
0027468587
-
A case of deletion 14(q22.1→q22.3) associated with anophthalmia and pituitary abnormalities
-
[Medline] [CrossRef]
-
Elliott J, Maltby EL, Reynolds B. A case of deletion 14(q22.1→q22.3) associated with anophthalmia and pituitary abnormalities. J Med Genet 1993;30:251-2. [Medline] [CrossRef]
-
(1993)
J Med Genet
, vol.30
, pp. 251-252
-
-
Elliott, J.1
Maltby, E.L.2
Reynolds, B.3
-
27
-
-
33746611539
-
Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies
-
[Medline]
-
Nolen LD, Amor D, Haywood A, St Heaps L, Willcock C, Mihelec M, et al. Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. Am J Med Genet A 2006;140:1711-8. [Medline]
-
(2006)
Am J Med Genet A
, vol.140
, pp. 1711-1718
-
-
Nolen, L.D.1
Amor, D.2
Haywood, A.3
St Heaps, L.4
Willcock, C.5
Mihelec, M.6
-
28
-
-
57349103617
-
A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency
-
[Medline] [CrossRef]
-
Diaczok D, Romero C, Zunich J, Marshall I, Radovick S. A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. J Clin Endocrinol Metab 2008;93:4351-9. [Medline] [CrossRef]
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 4351-4359
-
-
Diaczok, D.1
Romero, C.2
Zunich, J.3
Marshall, I.4
Radovick, S.5
-
29
-
-
1942456876
-
Involvement of Pax6 and Otx2 in the forebrainspecific regulation of the vertebrate homeobox gene ANF/Hesx1
-
[Medline] [CrossRef]
-
Spieler D, Baumer N, Stebler J, Koprunner M, Reichman-Fried M, Teichmann U, et al. Involvement of Pax6 and Otx2 in the forebrainspecific regulation of the vertebrate homeobox gene ANF/Hesx1. Dev Biol 2004;269:567-9. [Medline] [CrossRef]
-
(2004)
Dev Biol
, vol.269
, pp. 567-569
-
-
Spieler, D.1
Baumer, N.2
Stebler, J.3
Koprunner, M.4
Reichman-Fried, M.5
Teichmann, U.6
-
30
-
-
53749102565
-
OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: Functional studies using the IRBP, HESX1, and POU1F1 promoters
-
[Medline] [CrossRef]
-
Dateki S, Fukami M, Sato N, Muroya K, Adachi M, Ogata T. 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 2008;93:3697-702. [Medline] [CrossRef]
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 3697-3702
-
-
Dateki, S.1
Fukami, M.2
Sato, N.3
Muroya, K.4
Adachi, M.5
Ogata, T.6
-
31
-
-
76149146697
-
Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype
-
[Medline] [CrossRef]
-
Dateki S, Kosaka K, Hasegawa K, Tanaka H, Azuma N, Yokoya S, et al. Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype. J Clin Endocrinol Metab 2010;95:756-64. [Medline] [CrossRef]
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 756-764
-
-
Dateki, S.1
Kosaka, K.2
Hasegawa, K.3
Tanaka, H.4
Azuma, N.5
Yokoya, S.6
-
32
-
-
58149383817
-
OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary
-
[Medline] [CrossRef]
-
Tajima T, Ohtake A, Hoshino M, Amemiya S, Sasaki N, Ishizu K, et al. OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary. J Clin Endocrinol Metab 2009;94:314-9. [Medline] [CrossRef]
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 314-319
-
-
Tajima, T.1
Ohtake, A.2
Hoshino, M.3
Amemiya, S.4
Sasaki, N.5
Ishizu, K.6
-
33
-
-
77953402842
-
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency
-
[Medline] [CrossRef]
-
Ashkenazi-Hoffnung L, Lebenthal Y, Wyatt AW, Ragge NK, Dateki S, Fukami M, et al. A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. Hum Genet 2010;127:721-9. [Medline] [CrossRef]
-
(2010)
Hum Genet
, vol.127
, pp. 721-729
-
-
Ashkenazi-Hoffnung, L.1
Lebenthal, Y.2
Wyatt, A.W.3
Ragge, N.K.4
Dateki, S.5
Fukami, M.6
-
34
-
-
73449095474
-
A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction
-
[Medline]
-
Henderson RH, Williamson KA, Kennedy JS, Webster AR, Holder GE, Robson AG, et al. A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction. Mol Vis 2009;15:2442-7. [Medline]
-
(2009)
Mol Vis
, vol.15
, pp. 2442-2447
-
-
Henderson, R.H.1
Williamson, K.A.2
Kennedy, J.S.3
Webster, A.R.4
Holder, G.E.5
Robson, A.G.6
-
35
-
-
78650917524
-
OTX2 microphthalmia syndrome: Four novel mutations and delineation of a phenotype
-
[Medline] [CrossRef]
-
Schilter KF, Schneider A, Bardakjian T, Soucy JF, Tyler RC, Reis LM, et al. OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype. Clin Genet 2011;79:158-68. [Medline] [CrossRef]
-
(2011)
Clin Genet
, vol.79
, pp. 158-168
-
-
Schilter, K.F.1
Schneider, A.2
Bardakjian, T.3
Soucy, J.F.4
Tyler, R.C.5
Reis, L.M.6
-
36
-
-
84865708461
-
A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve
-
[Medline] [CrossRef]
-
Gorbenko Del Blanco D, Romero CJ, Diaczok D, de Graaff LC, Radovick S, Hokken-Koelega AC. A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve. Eur J Endocrinol 2012;167:441-52. [Medline] [CrossRef]
-
(2012)
Eur J Endocrinol
, vol.167
, pp. 441-452
-
-
Gorbenko del Blanco, D.1
Romero, C.J.2
Diaczok, D.3
de Graaff, L.C.4
Radovick, S.5
Hokken-Koelega, A.C.6
|