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@ARTICLE{Inta:125990,
      author       = {I. M. Inta and D. Choukair and S. Bender$^*$ and C. Kneppo
                      and S. Knauer-Fischer and K. Meyenburg and B. Ivandic and S.
                      Pfister$^*$ and M. Bettendorf},
      title        = {{G}uanine nucleotide-binding protein α subunit
                      hypofunction in children with short stature and
                      disproportionate shortening of the 4th and 5th metacarpals.},
      journal      = {Hormone research in paediatrics},
      volume       = {81},
      number       = {3},
      issn         = {1663-2826},
      address      = {Basel},
      publisher    = {Karger},
      reportid     = {DKFZ-2017-02105},
      pages        = {196 - 203},
      year         = {2014},
      abstract     = {GNAS encodes the α subunit of the stimulatory G protein
                      (Gsα). Maternal inherited Gsα mutations cause
                      pseudohypoparathyroidism type Ia (PHP-Ia), associated with
                      shortening of the 4th and 5th metacarpals.Here we
                      investigated the Gsα pathway in short patients with
                      distinct shortening of the 4th and 5th metacarpals.In 571
                      children with short stature and 4 patients with PHP-Ia
                      metacarpal bone lengths were measured. In identified
                      patients we analysed the Gsα protein function in platelets,
                      performed GNAS sequencing, and epigenetic analysis of four
                      significant differentially methylated regions.In 51 patients
                      $(8.9\%)$ shortening of the 4th and 5th metacarpals was more
                      pronounced than their height deficit. No GNAS coding
                      mutations were identified in 20 analysed patients, except in
                      2 PHP-Ia patients. Gsα activity was reduced in all PHP-Ia
                      patients and in $25\%$ of the analysed patients. No
                      significant methylation changes were identified.Our findings
                      suggest that patients with short stature and distinct
                      metacarpal bone shortening could be part of the wide variety
                      of PHP/PPHP, therefore it was worthwhile analysing the Gsα
                      protein function and GNAS gene in these patients in order to
                      further elucidate the phenotype and genotype of Gsα
                      dysfunction.},
      cin          = {B062},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:24481334},
      doi          = {10.1159/000356928},
      url          = {https://inrepo02.dkfz.de/record/125990},
}