Property Summary

NCBI Gene PubMed Count 39
Grant Count 22
R01 Count 19
Funding $14,541,295.85
PubMed Score 105.61
PubTator Score 67.81

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma 2.250 0.000

Gene RIF (20)

PMID Text
24770546 Results identify a novel mutation of FDG1 in a family with Aarskog syndrome and underscore the phenotypical variability of this condition.
24446295 No significant association was observed between IDD and allele or genotype frequencies, or the haplotype of the 5 SNPs of the FGD1 gene in the Chinese population.
23443263 Mutational analyses revealed a novel mutation (c.308-2G), hemizygous in the boy and heterozygous in the mother with Aarskog syndrome.
23211637 A novel mutation in exon 6 (G1341A substituting tryptophan with a stop codon at amino acid position 447) may have influenced the clinical phenotype of these 5 patients with Aarskog-Scott syndrome.
23169394 branch point variant in FGD1 identified by exome sequencing in Aarskog-Scott syndrome
22876573 The faciogenital dysplasia 1 (FGD1)gene encodes for a protein involved in skeletal and neuronal development.
22854039 Authors discuss the hypothesis that FGD1 might be an important regulator of events controlling extracellular matrix remodelling and possibly cell invasion in physiological and pathological settings.
21739585 This is the first report of inheritance by germline mosaicism for the FGD1 gene
21356349 These results demonstrate an important role for FGD1/Cdc42 signaling in human mesenchymal stem cells osteogenesis.
21212517 This study showed that the proline-rich doman of FGD1 is critical for persistent cell migration; FGD1 also augments EGF-stimulated c-Jun NH(2)-terminal kinase (JNK) activation.
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AA Sequence

MHGHRAPGGAGPSEPEHPATNPPGAAPPACADSDPGASEPGLLARRGSGSALGGPLDPQFVGPSDTSLGA      1 - 70
APGHRVLPCGPSPQHHRALRFSYHLEGSQPRPGLHQGNRILVKSLSLDPGQSLEPHPEGPQRLRSDPGPP     71 - 140
TETPSQRPSPLKRAPGPKPQVPPKPSYLQMPRMPPPLEPIPPPPSRPLPADPRVAKGLAPRAEASPSSAA    141 - 210
VSSLIEKFEREPVIVASDRPVPGPSPGPPEPVMLPQPTSQPPVPQLPEGEASRCLFLLAPGPRDGEKVPN    211 - 280
RDSGIDSISSPSNSEETCFVSDDGPPSHSLCPGPPALASVPVALADPHRPGSQEVDSDLEEEDDEEEEEE    281 - 350
KDREIPVPLMERQESVELTVQQKVFHIANELLQTEKAYVSRLHLLDQVFCARLLEEARNRSSFPADVVHG    351 - 420
IFSNICSIYCFHQQFLLPELEKRMEEWDRYPRIGDILQKLAPFLKMYGEYVKNFDRAVELVNTWTERSTQ    421 - 490
FKVIIHEVQKEEACGNLTLQHHMLEPVQRIPRYELLLKDYLLKLPHGSPDSKDAQKSLELIATAAEHSNA    491 - 560
AIRKMERMHKLLKVYELLGGEEDIVSPTKELIKEGHILKLSAKNGTTQDRYLILFNDRLLYCVPRLRLLG    561 - 630
QKFSVRARIDVDGMELKESSNLNLPRTFLVSGKQRSLELQARTEEEKKDWVQAINSTLLKHEQTLETFKL    631 - 700
LNSTNREDEDTPPNSPNVDLGKRAPTPIREKEVTMCMRCQEPFNSITKRRHHCKACGHVVCGKCSEFRAR    701 - 770
LVYDNNRSNRVCTDCYVALHGVPGSSPACSQHTPQRRRSILEKQASVAAENSVICSFLHYMEKGGKGWHK    771 - 840
AWFVVPENEPLVLYIYGAPQDVKAQRSLPLIGFEVGPPEAGERPDRRHVFKITQSHLSWYFSPETEELQR    841 - 910
RWMAVLGRAGRGDTFCPGPTLSEDREMEEAPVAALGATAEPPESPQTRDKT                       911 - 961
//

Text Mined References (43)

PMID Year Title
24770546 2014 Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia.
24446295 2014 No association between FGD1 gene polymorphisms and intellectual developmental disability in the Qinba mountain area.
23443263 2013 A novel mutation in a mother and a son with Aarskog-Scott syndrome.
23211637 2013 Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23169394 2013 Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome.
22876573 2012 X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotype.
22854039 2012 FGD1 as a central regulator of extracellular matrix remodelling--lessons from faciogenital dysplasia.
21739585 2011 Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.
21356349 2011 The Cdc42 guanine nucleotide exchange factor FGD1 regulates osteogenesis in human mesenchymal stem cells.
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