Rechercher
Results
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PROKR2
PROKR2 PROKINETICIN RECEPTOR 2 OMIM 607123 Located at chromosome 20p12.3 Encodes the G protein-coupled prokineticin receptor 2. PROKR2 comprises 3 exons and the corresponding mRNA (NM_144773.2) encodes a 384 amino acid protein. Human genetics Mutations in PROKR2 cause congenital hypogonadotropic hyp
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HS6ST1
HS6ST1 HEPARAN SULFATE 6-O-SULFOTRANSFERASE 1 OMIM 604846 Located at chromosome 2q14.3 Encodes heparan sulfate 6-O-sulfotransferase 1 that catalyzes the transfer of sulfate from 3-prime-phosphoadenosine 5-prime-phosphosulfate to position 6 of the N-sulfoglucosamine residue of heparan sulfate. HS6ST1
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SEMA3A
SEMA3A SEMAPHORIN 3A OMIM 603961 Located at chromosome 7q21.11 Encodes semaphorin 3A, a member of the semaphorin family. SEMA3A comprises 17 exons and the corresponding mRNA (NM_006080.2) encodes a 771 amino acid chemotropic molecule that modulates neurite growth. Human genetics Mutations in SEMA3A
chuv.ch/en/hhn/hhn-home/research/gene-curation/sema3a
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GNRHR
GNRHR GONADOTROPIN-RELEASING HORMONE RECEPTOR OMIM 138850 Located at chromosome 4q21.22 Encodes the gonadotropin-releasing hormone receptor, a member of the G protein-coupled, Ca 2+ -dependent family of receptors. Located on the cell surface of pituitary gonadotropes, GnRHR transduces GnRH signals a
chuv.ch/en/hhn/hhn-home/research/gene-curation/gnrhr
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Publications
Publications ESPE Presidential Poster Award Awarded to a poster outlining our ACTION at the 51st Annual Meeting of the European Society for Paediatric Endocrinology, Leipzig, Germany, September 2012. This poster is available for all COST investigators for showcasing this Action. Please contact Andre
chuv.ch/en/hhn/hhn-home/neuroendocrine-control-of-reproduction/publications
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About COST
About COST Our funding is through COST , an intergovernmental framework for European Cooperation in Science and Technology. Its goal is to ensure that Europe holds a strong position in the fields of scientific and technical research. COST funding is based on Actions , which are networks of coordinat
chuv.ch/en/hhn/hhn-home/neuroendocrine-control-of-reproduction/about-cost
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Our Mission
Our Mission Aims Build an international network of investigators in the field of neuroendocrine control of reproduction Create an international registry of patients with congenital GnRH deficiency Identify genes and pathways responsible for sexual maturation by studying rare patients with congenital
chuv.ch/en/hhn/hhn-home/neuroendocrine-control-of-reproduction/our-mission
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TAC3
TAC3 TACHYKININ 3 OMIM 162330 Located at chromosome 12q13-q21 Encodes neurokinin B (NKB), a member of the tachykinin family of neurotransmitter peptides. TAC3 comprises 7 exons (5 coding exons) and the corresponding mRNA (NM_013251.3) encodes a 121 amino acid protein NKB is the ligand of TACR3/NK3R
chuv.ch/en/hhn/hhn-home/research/gene-curation/tac3
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TAC3R
TAC3R TACHYKININ RECEPTOR 3 OMIM 162332 Located at chromosome 4q25. Encodes the G protein-coupled receptor tachykinin receptor 3 (TACR3) also called neurokinin B (NKB) receptor. TACR3 comprises 5 exons and the corresponding mRNA (NM_001059.2) encodes a 465 amino acid protein Human genetics Mutations
chuv.ch/en/hhn/hhn-home/research/gene-curation/tac3r
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Meetings
Meetings Cost Action BM1105 meetings Kickoff COST Office, Brussels, Belgium 5 April 2012 Meeting Minutes Management committee and Core Working Groups COST Office, Brussels, Belgium 11-12 Feb 2013 Meeting Minutes Working Group Chairs Paris, France 23-24 Jun 2013 Meeting Minutes Working Group Chairs L
chuv.ch/en/hhn/hhn-home/neuroendocrine-control-of-reproduction/meetings