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@ARTICLE{Oleari:166386,
      author       = {R. Oleari and V. Andrè and A. Lettieri and S. Tahir and L.
                      Roth and A. Paganoni and I. Eberini and C. Parravicini and
                      V. Scagliotti and L. Cotellessa and F. Bedogni and L. B. De
                      Martini and M. V. Corridori and S. Gulli and H. G.
                      Augustin$^*$ and C. Gaston-Massuet and K. Hussain and A.
                      Cariboni},
      title        = {{A} novel {SEMA}3{G} mutation in two siblings affected by
                      syndromic {G}n{RH} deficiency.},
      journal      = {Neuroendocrinology},
      volume       = {111},
      number       = {5},
      issn         = {1423-0194},
      address      = {Basel},
      publisher    = {Karger},
      reportid     = {DKFZ-2020-02874},
      pages        = {421-441},
      year         = {2021},
      note         = {2021;111(5):421-441},
      abstract     = {Gonadotropin-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.},
      cin          = {A190},
      ddc          = {610},
      cid          = {I:(DE-He78)A190-20160331},
      pnm          = {311 - Zellbiologie und Tumorbiologie (POF4-311)},
      pid          = {G:(DE-HGF)POF4-311},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:32365351},
      doi          = {10.1159/000508375},
      url          = {https://inrepo02.dkfz.de/record/166386},
}