Gene analysis of PROP1 in dwarfism with combined pituitary hormone deficiency

被引：7

作者：

Takamura, N

Fofanova, OV

Kinoshita, E

Yamashita, S

机构：

[1] Nagasaki Univ, Sch Med, Atom Bomb Dis Inst, Dept Int Hlth & Radiat Res, Nagasaki, Japan

[2] Med Genet Res Ctr, Endocrinol Res Ctr, Moscow, Russia

[3] Nagasaki Univ, Sch Med, Dept Pediat, Nagasaki 852, Japan

来源：

GROWTH HORMONE & IGF RESEARCH | 1999年 / 9卷

关键词：

combined pituitary hormone deficiency (CPHD); PROP1; POU1F1;

D O I：

10.1016/S1096-6374(99)80075-6

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

The prophet of Pit-1 gene (PROP1), a novel pituitary-specific homeodomain factor, has been proved to be one of the causative genes for combined pituitary hormone deficiency (CPHD). Recently, PROP1 mutations have been identified in CPHD families, including our Russian cohort. The 2-bp deletion, 296delGA (A301G302del), is the most common mutational hot spot. Furthermore, in our cohort, PROP1 mutations are more common in comparison with human POU1F1 gene mutations. Here we review the gene analysis of PROP1 in patients with CPHD. (C) 1999 Harcourt Publishers Ltd.

引用

页码：12 / 17

页数：6

共 50 条

[1] Gene analysis of PROP1 in dwarfism with combined pituitary hormone deficiency -: Summary of discussion following presentation
Takamura, N
GROWTH HORMONE & IGF RESEARCH, 1999, 9 : 17 - 17
[2] PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency
Lemos, Manuel C.
Gomes, Leonor
Bastos, Margarida
Leite, Valeriano
Limbert, Edward
Carvalho, Davide
Bacelar, Conceicao
Monteiro, Mariana
Fonseca, Fernando
Agapito, Ana
Castro, Joao J.
Regateiro, Fernando J.
Carvalheiro, Manuela
CLINICAL ENDOCRINOLOGY, 2006, 65 (04) : 479 - 485
[3] Hot spot in the PROP1 gene responsible for combined pituitary hormone deficiency
Deladoëy, J
Flück, C
Büyükgebiz, A
Kuhlmann, BV
Eblé, A
Hindmarsh, PC
Wu, W
Mullis, PE
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1999, 84 (05): : 1645 - 1650
[4] Analysis of ProP1 Gene in a Cohort of Tunisian Patients with Congenital Combined Pituitary Hormone Deficiency
Moalla, Mariam
Mnif-Feki, Mouna
Safi, Wajdi
Charfi, Nadia
Mejdoub-Rekik, Nabila
Abid, Mohamed
Kacem, Faten Hadj
Kacem, Hassen Hadj
JOURNAL OF CLINICAL MEDICINE, 2022, 11 (24)
[5] Late Referral of Siblings with Combined Pituitary Hormone Deficiency (PROP1)
Hasanbegovic, Snijezana
Kljucic, Amila
HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 472 - 472
[6] Mutations in PROP1 cause familial combined pituitary hormone deficiency
Wu, W
Cogan, JD
Pfäffle, RW
Dasen, JS
Frisch, H
O'Connell, SM
Flynn, SE
Brown, MR
Mullis, PE
Parks, JS
Phillips, JA
Rosenfeld, MG
NATURE GENETICS, 1998, 18 (02) : 147 - 149
[7] PROP1 MUTATIONS IN PORTUGUESE PATIENTS WITH COMBINED PITUITARY HORMONE DEFICIENCY
Ribeiro, Ana C.
Coutinho, Eduarda
Goncalves, Catarina I.
Saraiva, Luis R.
Lemos, Manuel C.
MEDICINE, 2025, 104 (04)
[8] Mutations in PROP1 cause familial combined pituitary hormone deficiency
Wei Wu
Joy D. Cogan
Roland W. Pfäffle
Jeremy S. Dasen
Herwig Frisch
Shawn M. O'Connell
Sarah E. Flynn
Milton R. Brown
Primus E. Mullis
John S. Parks
John A. Phillips III
Michael G. Rosenfeld
Nature Genetics, 1998, 18 : 147 - 149
[9] Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion
Abrao, M. G.
Leite, V.
Carvalho, L. R.
Billerbeck, A. E. C.
Nishi, M. Y.
Barbosa, A. S.
Martin, R. M.
Arnhold, I. J. P.
Mendonca, B. B.
CLINICAL ENDOCRINOLOGY, 2006, 65 (03) : 294 - 300
[10] Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD)
Kelberman, D.
Turton, J. P. G.
Woods, K. S.
Mehta, A.
Al-Khawari, M.
Greening, J.
Swift, P. G. F.
Otonkoski, T.
Rhodes, S. J.
Dattani, M. T.
CLINICAL ENDOCRINOLOGY, 2009, 70 (01) : 96 - 103

← 1 2 3 4 5 →