000166386 001__ 166386
000166386 005__ 20240229133520.0
000166386 0247_ $$2doi$$a10.1159/000508375
000166386 0247_ $$2pmid$$apmid:32365351
000166386 0247_ $$2ISSN$$a0028-3835
000166386 0247_ $$2ISSN$$a1423-0194
000166386 0247_ $$2altmetric$$aaltmetric:102578248
000166386 037__ $$aDKFZ-2020-02874
000166386 041__ $$aeng
000166386 082__ $$a610
000166386 1001_ $$aOleari, Roberto$$b0
000166386 245__ $$aA novel SEMA3G mutation in two siblings affected by syndromic GnRH deficiency.
000166386 260__ $$aBasel$$bKarger$$c2021
000166386 3367_ $$2DRIVER$$aarticle
000166386 3367_ $$2DataCite$$aOutput Types/Journal article
000166386 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1641806389_31476
000166386 3367_ $$2BibTeX$$aARTICLE
000166386 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000166386 3367_ $$00$$2EndNote$$aJournal Article
000166386 500__ $$a2021;111(5):421-441
000166386 520__ $$aGonadotropin-releasing hormone (GnRH) deficiency causes hypogonadotropic hypogonadism (HH), a rare genetic disorder that impairs sexual reproduction. HH can be due to defective GnRH-secreting neuron development or function and may be associated with other clinical signs in overlapping genetic syndromes. With most of the cases being idiopathic, genetics underlying HH is still largely unknown.To assess the contribution of mutated Semaphorin 3G (SEMA3G) gene in the onset of a syndromic form of HH, characterized by intellectual disabilities and facial dysmorphic features.By combining homozygosity mapping with exome sequencing, we identified a novel variant in SEMA3G gene. We then applied mouse as a model organism to examine SEMA3G expression and its functional requirement in vivo. Further, we applied homology modelling in silico and cell culture assays in vitro to validate the pathogenicity of the identified gene variant.We found that: SEMA3G is expressed along the migratory route of GnRH neurons and in the developing pituitary; SEMA3G affects GnRH neuron development, but is redundant in the adult hypothalamic-pituitary-gonadal axis; mutated SEMA3G alters binding properties in silico and in vitro to its PlexinAs receptors and attenuates its effect on the migration of immortalized GnRH neurons.In silico, in vitro and in vivo models revealed that SEMA3G regulates GnRH neuron migration and that its mutation affecting receptor selectivity may be responsible for the HH-related defects.
000166386 536__ $$0G:(DE-HGF)POF4-311$$a311 - Zellbiologie und Tumorbiologie (POF4-311)$$cPOF4-311$$fPOF IV$$x0
000166386 588__ $$aDataset connected to CrossRef, PubMed,
000166386 7001_ $$aAndrè, Valentina$$b1
000166386 7001_ $$aLettieri, Antonella$$b2
000166386 7001_ $$aTahir, Sophia$$b3
000166386 7001_ $$aRoth, Lise$$b4
000166386 7001_ $$aPaganoni, Alyssa$$b5
000166386 7001_ $$aEberini, Ivano$$b6
000166386 7001_ $$aParravicini, Chiara$$b7
000166386 7001_ $$aScagliotti, Valeria$$b8
000166386 7001_ $$aCotellessa, Ludovica$$b9
000166386 7001_ $$aBedogni, Francesco$$b10
000166386 7001_ $$aDe Martini, Lisa Benedetta$$b11
000166386 7001_ $$aCorridori, Maria Vittoria$$b12
000166386 7001_ $$aGulli, Simona$$b13
000166386 7001_ $$0P:(DE-He78)2e92d0ae281932fc7347d819fec36b0b$$aAugustin, Hellmut G$$b14$$udkfz
000166386 7001_ $$aGaston-Massuet, Carles$$b15
000166386 7001_ $$aHussain, Khalid$$b16
000166386 7001_ $$aCariboni, Anna$$b17
000166386 773__ $$0PERI:(DE-600)1483028-0$$a10.1159/000508375$$n5$$p421-441$$tNeuroendocrinology$$v111$$x1423-0194$$y2021
000166386 909CO $$ooai:inrepo02.dkfz.de:166386$$pVDB
000166386 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)2e92d0ae281932fc7347d819fec36b0b$$aDeutsches Krebsforschungszentrum$$b14$$kDKFZ
000166386 9131_ $$0G:(DE-HGF)POF4-311$$1G:(DE-HGF)POF4-310$$2G:(DE-HGF)POF4-300$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lKrebsforschung$$vZellbiologie und Tumorbiologie$$x0
000166386 9130_ $$0G:(DE-HGF)POF3-321$$1G:(DE-HGF)POF3-320$$2G:(DE-HGF)POF3-300$$3G:(DE-HGF)POF3$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lHerz-Kreislauf-Stoffwechselerkrankungen$$vBasic Concepts$$x0
000166386 9141_ $$y2021
000166386 915__ $$0StatID:(DE-HGF)0410$$2StatID$$aAllianz-Lizenz$$d2020-08-26$$wger
000166386 915__ $$0StatID:(DE-HGF)0420$$2StatID$$aNationallizenz$$d2020-08-26$$wger
000166386 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bNEUROENDOCRINOLOGY : 2018$$d2020-08-26
000166386 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2020-08-26
000166386 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2020-08-26
000166386 915__ $$0StatID:(DE-HGF)0320$$2StatID$$aDBCoverage$$bPubMed Central$$d2020-08-26
000166386 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search$$d2020-08-26
000166386 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC$$d2020-08-26
000166386 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2020-08-26
000166386 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences$$d2020-08-26
000166386 915__ $$0StatID:(DE-HGF)0160$$2StatID$$aDBCoverage$$bEssential Science Indicators$$d2020-08-26
000166386 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews$$d2020-08-26
000166386 915__ $$0StatID:(DE-HGF)1190$$2StatID$$aDBCoverage$$bBiological Abstracts$$d2020-08-26
000166386 915__ $$0StatID:(DE-HGF)0113$$2StatID$$aWoS$$bScience Citation Index Expanded$$d2020-08-26
000166386 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2020-08-26
000166386 915__ $$0StatID:(DE-HGF)9905$$2StatID$$aIF >= 5$$bNEUROENDOCRINOLOGY : 2018$$d2020-08-26
000166386 9201_ $$0I:(DE-He78)A190-20160331$$kA190$$lA190 Vaskuläre Onkologie und Metastasierung$$x0
000166386 980__ $$ajournal
000166386 980__ $$aVDB
000166386 980__ $$aI:(DE-He78)A190-20160331
000166386 980__ $$aUNRESTRICTED