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10.1002/mgg3.376 http://scihub22266oqcxt.onion/10.1002/mgg3.376 C6014450!6014450 !29500860     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=29500860 &cmd=llinks): Failed to open stream: HTTP request failed! 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Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease s mechanism |pdf=|usr=}}{{29500860 }} gab.com Text Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease s mechanism JO: Mol Genet Genomic Med http://www.kidney.de/pget.php?&tw=1&pmid=29500860 #FOAvip BACKGROUND: Fowler syndrome is a rare autosomal recessive disorder characterized by hydranencephaly-hydrocephaly and multiple pterygium due to fetal akinesia. To date, around 45 cases from 27 families have been reported, and the pathogenic bi-allelic mutations in FLVCR2 gene described in 15 families. The pathogenesis of this condition has not been fully elucidated so far. METHODS: We report on an additional family with two affected fetuses carrying a novel homozygous mutation in FLVCR2 gene, and describe the impact of known mutants on the protein structural and functional impairment. RESULTS: The present report confirms the genetic homogeneity of Fowler syndrome and describes a new FLVCR2 mutation affecting the protein function. The structural analysis of the present and previously published FLVCR2 mutations supports the hypothesis of a reduced heme import as the underlying disease's mechanism due to the stabilization of the occluded conformation or a protein misfolding. CONCLUSION: Our data suggest the hypothesis of heme deficiency as the major pathogenic mechanism of Fowler syndrome. Twit Text FOAVip Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease s mechanism ????Mol Genet Genomic Med http://www.kidney.de/pget.php?&tw=1&pmid=29500860 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29500860 #FOAvip English Wikipedia <ref>{{Cite pmid|29500860 }}</ref> Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease s mechanism #MMPMID29500860 Radio FC ; Di Meglio L ; Agolini E ; Bellacchio E ; Rinelli M ; Toscano P ; Boldrini R ; Novelli A ; Di Meglio A ; Dallapiccola B Mol Genet Genomic Med 2018[May]; 6 (3 ): 446-451 PMID29500860 show ga BACKGROUND: Fowler syndrome is a rare autosomal recessive disorder characterized by hydranencephaly-hydrocephaly and multiple pterygium due to fetal akinesia. To date, around 45 cases from 27 families have been reported, and the pathogenic bi-allelic mutations in FLVCR2 gene described in 15 families. The pathogenesis of this condition has not been fully elucidated so far. METHODS: We report on an additional family with two affected fetuses carrying a novel homozygous mutation in FLVCR2 gene, and describe the impact of known mutants on the protein structural and functional impairment. RESULTS: The present report confirms the genetic homogeneity of Fowler syndrome and describes a new FLVCR2 mutation affecting the protein function. The structural analysis of the present and previously published FLVCR2 mutations supports the hypothesis of a reduced heme import as the underlying disease's mechanism due to the stabilization of the occluded conformation or a protein misfolding. CONCLUSION: Our data suggest the hypothesis of heme deficiency as the major pathogenic mechanism of Fowler syndrome. |Alleles [MESH] |Amino Acid Sequence/genetics [MESH] |Fetus/pathology [MESH] |Heme/genetics/metabolism [MESH] |Humans [MESH] |Hydranencephaly/*genetics/physiopathology [MESH] |Hydrocephalus/genetics [MESH] |Membrane Transport Proteins/*genetics/physiology [MESH] |Mutation [MESH] |Receptors, Virus/*genetics/physiology [MESH]Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome o(epmc).pdf DeepDyve Pubget Overpricing