Detalhe da pesquisa
1.
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
Am J Hum Genet
; 106(1): 58-70, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883645
2.
DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.
Hum Mol Genet
; 27(2): 359-372, 2018 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29202173
3.
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
Am J Hum Genet
; 92(5): 725-43, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23643382
4.
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.
Genet Med
; 17(8): 651-9, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25394172
5.
Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression.
Nat Genet
; 38(5): 531-9, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16604073
6.
A genetic basis for functional hypothalamic amenorrhea.
N Engl J Med
; 364(3): 215-25, 2011 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-21247312
7.
Structure of myostatin·follistatin-like 3: N-terminal domains of follistatin-type molecules exhibit alternate modes of binding.
J Biol Chem
; 287(2): 1043-53, 2012 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22052913
8.
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.
J Clin Invest
; 118(8): 2822-31, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18596921
9.
Modulation of bone morphogenetic protein signaling in vivo regulates systemic iron balance.
J Clin Invest
; 117(7): 1933-9, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17607365
10.
Hemojuvelin regulates hepcidin expression via a selective subset of BMP ligands and receptors independently of neogenin.
Blood
; 111(10): 5195-204, 2008 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18326817
11.
Differential antagonism of activin, myostatin and growth and differentiation factor 11 by wild-type and mutant follistatin.
Endocrinology
; 149(9): 4589-95, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18535106
12.
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
J Clin Endocrinol Metab
; 93(9): 3551-9, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18559922
13.
Activin receptor-like kinase-2 inhibits activin signaling by blocking the binding of activin to its type II receptor.
J Endocrinol
; 195(1): 95-103, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17911401
14.
KLB, encoding ß-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
EMBO Mol Med
; 9(10): 1379-1397, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28754744
15.
Biological activity of follistatin isoforms and follistatin-like-3 is dependent on differential cell surface binding and specificity for activin, myostatin, and bone morphogenetic proteins.
Endocrinology
; 147(7): 3586-97, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16627583
16.
Heparin and activin-binding determinants in follistatin and FSTL3.
Endocrinology
; 146(1): 130-6, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15471966
17.
Differential biosynthesis and intracellular transport of follistatin isoforms and follistatin-like-3.
Endocrinology
; 146(12): 5052-62, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16150905
18.
Localization and action of Dragon (repulsive guidance molecule b), a novel bone morphogenetic protein coreceptor, throughout the reproductive axis.
Endocrinology
; 146(8): 3614-21, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15890774
19.
Overexpression of follistatin-like 3 in gonads causes defects in gonadal development and function in transgenic mice.
Mol Endocrinol
; 18(4): 979-94, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-14739256
20.
The role of follistatin domains in follistatin biological action.
Mol Endocrinol
; 18(1): 228-40, 2004 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-14563935