Results 91 to 100 of about 2,015 (159)

A Large Deletion of <i>PROP1</i> Gene in Patients with Combined Pituitary Hormone Deficiency from Two Unrelated Chinese Pedigrees

, 2010
<i>Background:</i> Familial combined pituitary hormone deficiency (CPHD) appears to have a genetic cause, <i>PROP1</i> gene mutations being the most common one.
Yi Wang, Dingping Shi, Lianshu Han, Huiwen Zhang, Xuefan Gu   +4 more
core   +1 more source

Combining transcriptomics and proteomics to unveil possible PROP1 interactors during embryonic pituitary development

Congenital hypopituitarism (CH) is a deficiency of one or more hormones produced by the anterior pituitary. The most frequently mutated gene in CH is PROP1, which has a very dynamic expression pattern.
Mercogliano, María Florencia, Camper, Sally, Schuster, Claudio David, Cheung, Leonard, Pérez Millán, María Inés, Marti, Marcelo Adrian, Iglesias García, Lucía Candela   +6 more
core   +1 more source

Analysis of PROP1 gene in patients with hypopituitarism: study in DNA from blood and oral cells extracted with NaCl.

, 2005
As mutações no gene PROP1 são a causa genética mais comum da deficiência combinada de hormônios hipofisários. Até o momento, diversas mutações missense e pequenas deleções foram descritas sendo a mutação 301-302 delAG a mais freqüente.
Milena Garcia Abrão, Abrão, Milena Garcia   +1 more
core   +1 more source

한국 소아 뇌하수체기능저하증 환자에서의 PROP1 유전자 분석에 관한 연구

, 2009
Purpose: Mutations of the PROP1 (Prophet of PIT1) gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of growth hormone (GH), thyroid stimulating hormone (TSH), luteinizing hormone (LH)/follicle stimulating ...
이, 효성, 황, 일태, 황, 진순
core   +1 more source

Recombinant Human Growth Hormone Replacement in a Japanese Man with a Novel PROP1 Gene Mutation (R112X)

Congenital combined pituitary hormone deficiency (CPHD) is associated with deficiencies of anterior pituitary hormones. PROP1 gene mutations are often responsible for CPHD, but few such cases have been reported in Japan.
イデ, チハル, Shimatsu, Akira, Hiramatsu, Shinsuke, 島津, 章, 臼井, 健, 小河, 淳, オゴウ, アツシ, Sakai, Yoshiyuki, 的場, ゆか, Matoba, Yuka, Ide, Chiharu, マルタ, テツシ, 酒井, 義之, 井手, 千晴, Ogo, Atsushi, シマツ, アキラ, Usui, Takeshi, 成瀬, 光栄, サカイ, ヨシユキ, Naruse, Mitsuhide, ナルセ, ミツヒデ, Maruta, Tetsushi, ウスイ, タケシ, ヒラマツ, シンスケ, 丸田, 哲史, マトバ, ユカ, 平松, 真祐   +26 more
core  

Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/ or pituitary hormone deficiency

, 2010
Objective: The present study aimed at evaluating the PROP1 and HESX1 genes in a group of patients with septo-optic dysplasia (SOD) and pituitary hormone deficiency (combined – CPHD; isolated GH deficiency – GHD).
Perone, Denise, Clara, Sueli A., Kopp, Peter, Cruz, Juliana B., Nunes, Vania dos Santos, Nogueira, Célia R.   +5 more
core  

Comparative genomics reveals functional transcriptional control sequences in the \u3ci\u3eProp1\u3c/i\u3e gene [PDF]

, 2007
Mutations in PROP1 are a common genetic cause of multiple pituitary hormone deficiency (MPHD). We used a comparative genomics approach to predict the transcriptional regulatory domains of Prop1 and tested them in cell culture and mice.
Rubin, Edward M., Ward, Robert D., Cho, MinChul, Raetzman, Lori T., Lyons, Robert H., Smith, Timothy P.L., Cheng, Jan-Fang, Camper, S. A., Esposito, Constance, Rhodes, Simon J., Davis, Shannon W.   +10 more
core  

Prolonged jaundice and hypothyroidism as the presenting symptoms in a neonate with a novel Prop1 gene mutation (Q83X)

, 2004
Objective: To identify the genetic defect in a neonate presented with prolonged jaundice and central hypothyroidism. Design: Central hypothyroidism was detected in a neonate initially examined for prolonged jaundice, and levothyroxine therapy was ...
Maniati-Christidi, M, C, Dacou-Voutetakis, Kanaka-Gantenbein, C, Livadas, S, Sertedaki, A, Dracopoulou, M, Argyropoulou, M, Voutetakis, A   +8 more
core   +1 more source

[Corrigendum] Circulating microRNA profiles and the identification of miR‑593 and miR‑511 which directly target the PROP1 gene in children with combined pituitary hormone deficiency. [PDF]

Int J Mol Med
Hu Y, Wang Q, Wang Z, Wang F, Guo X, Li G.   +5 more
europepmc   +1 more source

Role of Snord116 in pituitary growth hormone deficiency of Prader-Willi syndrome. [PDF]

JCI Insight
Batzli GF, Guo K, Erol FMB, LeDuc CA, Burnett LC, Leibel RL, Zhang Y.   +6 more
europepmc   +1 more source