Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism (Q30442563)

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9 January 2020

title

Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism (English)

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9 January 2020

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2

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9 January 2020

Duarte Pignatelli

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9 January 2020

1

Nelly Pitteloud

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9 January 2020

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Lacey Plummer

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9 January 2020

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William F Crowley

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9 January 2020

author name string

Jia-Da Li

4

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9 January 2020

Taneli Raivio

5

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9 January 2020

Lindsay W Cole

6

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9 January 2020

Elka E Jacobson-Dickman

8

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9 January 2020

Pamela L Mellon

9

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9 January 2020

Qun-Yong Zhou

10

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9 January 2020

language of work or name

English

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publication date

24 October 2007

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Proceedings of the National Academy of Sciences of the United States of America

9 January 2020

published in

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9 January 2020

volume

104

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9 January 2020

page(s)

17447-17452

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9 January 2020

issue

44

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Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

9 January 2020

cites work

1 reference

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Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

20 June 2018

1 reference

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Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

20 June 2018

1 reference

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Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2

20 June 2018

1 reference

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Minireview: recent progress in gonadotropin-releasing hormone neuronal migration.

20 June 2018

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Dependence of olfactory bulb neurogenesis on prokineticin 2 signaling

20 June 2018

1 reference

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The GPR54 gene as a regulator of puberty

20 June 2018

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Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54

20 June 2018

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Molecular cloning and characterization of prokineticin receptors

20 June 2018

1 reference

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Isolation and identification of EG-VEGF/prokineticins as cognate ligands for two orphan G-protein-coupled receptors

20 June 2018

1 reference

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Prokineticin 2 transmits the behavioural circadian rhythm of the suprachiasmatic nucleus

20 June 2018

1 reference

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Identification and molecular characterization of two closely related G protein-coupled receptors activated by prokineticins/endocrine gland vascular endothelial growth factor

20 June 2018

1 reference

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Identification of two prokineticin cDNAs: recombinant proteins potently contract gastrointestinal smooth muscle

20 June 2018

1 reference

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Quality control of mRNA function

20 June 2018

1 reference

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A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor

20 June 2018

1 reference

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Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

20 June 2018

1 reference

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A single protocol to detect transcripts of various types and expression levels in neural tissue and cultured cells: in situ hybridization using digoxigenin-labelled cRNA probes

20 June 2018

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A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

20 June 2018

1 reference

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The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

20 June 2018

1 reference

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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

20 June 2018

1 reference

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Structural determinants required for the bioactivities of prokineticins and identification of prokineticin receptor antagonists

21 January 2018

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Prokineticin 2 is a target gene of proneural basic helix-loop-helix factors for olfactory bulb neurogenesis

21 January 2018

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Identification and pharmacological characterization of prokineticin 2 beta as a selective ligand for prokineticin receptor 1.

21 January 2018

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Hypogonadotropic hypogonadism and peripheral neuropathy in Ebf2-null mice.

21 January 2018

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Brain grafts reverse hypogonadism of gonadotropin releasing hormone deficiency.

21 January 2018

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Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

21 January 2018

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Clinical and laboratory heterogeneity in idiopathic hypogonadotropic hypogonadism

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17959774

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.0707173104

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9 January 2020

0 references

1 reference

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9 January 2020

1 reference