James S Acierno Jr
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Explore the profile of James S Acierno Jr including associated specialties, affiliations and a list of published articles.
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13
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1410
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Recent Articles
1.
Somm E, Henry H, Bruce S, Aeby S, Rosikiewicz M, Sykiotis G, et al.
JCI Insight
. 2017 Apr;
2(8).
PMID: 28422755
β-Klotho (encoded by Klb) is the obligate coreceptor mediating FGF21 and FGF15/19 signaling. Klb-/- mice are refractory to beneficial action of pharmacological FGF21 treatment including stimulation of glucose utilization and...
2.
Pitteloud N, Meysing A, Quinton R, Acierno Jr J, Dwyer A, Plummer L, et al.
Mol Cell Endocrinol
. 2006 Jun;
254-255:60-9.
PMID: 16764984
Background: Kallmann's syndrome (KS) is a clinically and genetically heterogeneous disorder consisting of idiopathic hypogonadotropic hypogonadism (IHH) and anosmia. Mutations in KAL1 causing the X-linked form of KS have been...
3.
Pitteloud N, Acierno Jr J, Meysing A, Eliseenkova A, Ma J, Ibrahimi O, et al.
Proc Natl Acad Sci U S A
. 2006 Apr;
103(16):6281-6.
PMID: 16606836
Mutations in KAL1 and FGFR1 cause Kallmann syndrome (KS), whereas mutations in the GNRHR and GPR54 genes cause idiopathic hypogonadotropic hypogonadism with normal olfaction (nIHH). Mixed pedigrees containing both KS...
4.
Zeng W, Al-Yamani E, Acierno Jr J, Slaugenhaupt S, Gillis T, MacDonald M, et al.
Am J Hum Genet
. 2005 May;
77(1):16-26.
PMID: 15871139
Biotin-responsive basal ganglia disease (BBGD) is a recessive disorder with childhood onset that presents as a subacute encephalopathy, with confusion, dysarthria, and dysphagia, and that progresses to severe cogwheel rigidity,...
5.
Pitteloud N, Acierno Jr J, Meysing A, Dwyer A, Hayes F, Crowley Jr W
J Clin Endocrinol Metab
. 2004 Dec;
90(3):1317-22.
PMID: 15613419
Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder. Recently, loss-of-function mutations in the fibroblast growth factor receptor 1 (FGFR1) gene have been shown to cause autosomal dominant KS....
6.
Miura K, Acierno Jr J, Seminara S
J Hum Genet
. 2004 Sep;
49(5):265-8.
PMID: 15362570
As the mouse nasal embryonic LHRH factor gene (Nelf) encodes a guidance molecule for the migration of the olfactory axon and gonadotropin-releasing hormone neurons, its human homolog, NELF, is a...
7.
Meysing A, Kanasaki H, Bedecarrats G, Acierno Jr J, Conn P, Martin K, et al.
J Clin Endocrinol Metab
. 2004 Jul;
89(7):3189-98.
PMID: 15240592
Mutations in the GnRH receptor gene (GNRHR) are a cause of idiopathic hypogonadotropic hypogonadism. We describe a normosmic female subject with congenital idiopathic hypogonadotropic hypogonadism in whom treatment with pulsatile...
8.
Seminara S, Messager S, Chatzidaki E, Thresher R, Acierno Jr J, Shagoury J, et al.
N Engl J Med
. 2003 Oct;
349(17):1614-27.
PMID: 14573733
Background: Puberty, a complex biologic process involving sexual development, accelerated linear growth, and adrenal maturation, is initiated when gonadotropin-releasing hormone begins to be secreted by the hypothalamus. We conducted studies...
9.
Acierno Jr J, Shagoury J, Bo-Abbas Y, Crowley Jr W, Seminara S
J Clin Endocrinol Metab
. 2003 Jun;
88(6):2947-50.
PMID: 12788910
Idiopathic hypogonadotropic hypogonadism (IHH) is traditionally established by 1) the absence of spontaneous pubertal development by age 18 yr and 2) low sex steroids with inappropriately low gonadotropins in the...
10.
Bo-Abbas Y, Acierno Jr J, Shagoury J, Crowley Jr W, Seminara S
J Clin Endocrinol Metab
. 2003 Jun;
88(6):2730-7.
PMID: 12788881
Failure of the normal pattern of episodic secretion of GnRH from the hypothalamus results in the clinical syndrome of idiopathic hypogonadotropic hypogonadism (IHH), with failure of pubertal development and infertility....