| Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features. | Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features.
Bayat A, Krett B, Dunø M, Torring PM, Vissing J., Free PMC Article | 06/18/2022 |
| Silencing FYVE, RhoGEF, and PH domain containing 1 (FGD1) suppresses melanoma progression by inhibiting PI3K/AKT signaling pathway. | Silencing FYVE, RhoGEF, and PH domain containing 1 (FGD1) suppresses melanoma progression by inhibiting PI3K/AKT signaling pathway.
Niu Z, Li Y, Xu Y, Jiang W, Tao R, Chen Y, Han Y., Free PMC Article | 02/19/2022 |
| A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly. | A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.
Kessel I, German A, Peleg A, Regeneron Genetics Center, Gonzaga-Jauregui C, Paperna T, Ekhilevitch N, Kurolap A, Baris Feldman H, Sagi-Dain L. | 01/22/2022 |
| Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1. | Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1.
Wang Q, Chen P, Liu J, Lou J, Liu Y, Yuan H., Free PMC Article | 05/15/2021 |
| FGD1 promotes tumor progression and regulates tumor immune response in osteosarcoma via inhibiting PTEN activity. | FGD1 promotes tumor progression and regulates tumor immune response in osteosarcoma via inhibiting PTEN activity.
Wu W, Jing D, Meng Z, Hu B, Zhong B, Deng X, Jin X, Shao Z., Free PMC Article | 05/15/2021 |
| Intersection of TKS5 and FGD1/CDC42 signaling cascades directs the formation of invadopodia. | Intersection of TKS5 and FGD1/CDC42 signaling cascades directs the formation of invadopodia.
Zagryazhskaya-Masson A, Monteiro P, Macé AS, Castagnino A, Ferrari R, Infante E, Duperray-Susini A, Dingli F, Lanyi A, Loew D, Génot E, Chavrier P., Free PMC Article | 03/27/2021 |
| Sequencing analyses in numerous types of cancer have found missense mutations in the FGD1 gene in metastatic tumors. | Minireview: Role of genetic changes of faciogenital dysplasia protein 1 in human disease.
Pedigo NG, Van Delden D, Walters L, Farrell CL. | 01/27/2018 |
| A novel variant in FGD1 (a novel hemizygous mutation in FGD1 c.53del (p.Pro18Argfs*106) for which the mother is heterozygous) was found in an Emirati family with two brothers suffering from Aarskog-Scott syndrome. The variant is predicted to be a null mutation, and this is the first report of its kind from the United Arab Emirates. | A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.
Hamzeh AR, Saif F, Nair P, Binjab AJ, Mohamed M, Al-Ali MT, Bastaki F., Free PMC Article | 12/30/2017 |
| Splice site mutation of FGD1 gene is associated with Aarskog-Scott syndrome patient with a large anterior fontanel. | A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.
Parıltay E, Hazan F, Ataman E, Demir K, Etlik Ö, Özbek E, Özkan B. | 05/6/2017 |
| Results identify a novel mutation of FDG1 in a family with Aarskog syndrome and underscore the phenotypical variability of this condition. | Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia.
Völter C, Martínez R, Hagen R, Kress W. | 05/30/2015 |
| 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. | No association between FGD1 gene polymorphisms and intellectual developmental disability in the Qinba mountain area.
Li JL, Li YJ, Zhang KJ, Lan L, Shi JG, Yang X, Zhang MJ, Zhang FC, Gao XC. | 09/27/2014 |
| branch point variant in FGD1 identified by exome sequencing in Aarskog-Scott syndrome | Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome.
Aten E, Sun Y, Almomani R, Santen GW, Messemaker T, Maas SM, Breuning MH, den Dunnen JT. | 08/31/2013 |
| Mutational analyses revealed a novel mutation (c.308-2G), hemizygous in the boy and heterozygous in the mother with Aarskog syndrome. | A novel mutation in a mother and a son with Aarskog-Scott syndrome.
Altıncık A, Kaname T, Demir K, Böber E. | 08/10/2013 |
| 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. | Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy.
Al-Semari A, Wakil SM, Al-Muhaizea MA, Dababo M, Al-Amr R, Alkuraya F, Meyer BF. | 05/18/2013 |
| 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. | FGD1 as a central regulator of extracellular matrix remodelling--lessons from faciogenital dysplasia.
Genot E, Daubon T, Sorrentino V, Buccione R. | 03/30/2013 |
| The faciogenital dysplasia 1 (FGD1)gene encodes for a protein involved in skeletal and neuronal development. | X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotype.
Verhoeven WM, Egger JI, Hoogeboom AJ. | 09/1/2012 |
| This is the first report of inheritance by germline mosaicism for the FGD1 gene | Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.
Pilozzi-Edmonds L, Maher TA, Basran RK, Milunsky A, Al-Thihli K, Braverman NE, Alfares A. | 11/26/2011 |
| These results demonstrate an important role for FGD1/Cdc42 signaling in human mesenchymal stem cells osteogenesis. | The Cdc42 guanine nucleotide exchange factor FGD1 regulates osteogenesis in human mesenchymal stem cells.
Gao L, Gorski JL, Chen CS., Free PMC Article | 05/28/2011 |
| 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. | Role of FGD1, a Cdc42 guanine nucleotide exchange factor, in epidermal growth factor-stimulated c-Jun NH2-terminal kinase activation and cell migration.
Oshima T, Fujino T, Ando K, Hayakawa M. | 05/21/2011 |
| Mutations in the FGD1 gene is not associated with Aarskog syndrome. | Familial syndrome resembling Aarskog syndrome.
Xu M, Qi M, Zhou H, Yong J, Qiu H, Cong P, Hong X, Li C, Jiang Y, Chen X, Yu Y. | 11/27/2010 |
| analysis of nine novel mutations of the FGD1 gene in Aarskog-Scott syndrome | Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
Orrico A, Galli L, Faivre L, Clayton-Smith J, Azzarello-Burri SM, Hertz JM, Jacquemont S, Taurisano R, Arroyo Carrera I, Tarantino E, Devriendt K, Melis D, Thelle T, Meinhardt U, Sorrentino V. | 04/12/2010 |
| First case of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. | First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.
Bedoyan JK, Friez MJ, DuPont B, Ahmad A. | 01/21/2010 |
| FGD1 is preferentially associated with the trans-Golgi network (TGN), suggesting its involvement in export of proteins from the Golgi. | Faciogenital dysplasia protein (FGD1) regulates export of cargo proteins from the golgi complex via Cdc42 activation.
Egorov MV, Capestrano M, Vorontsova OA, Di Pentima A, Egorova AV, Mariggiò S, Ayala MI, Tetè S, Gorski JL, Luini A, Buccione R, Polishchuk RS., Free PMC Article | 01/21/2010 |
| Findings suggest a central role for Fgd1 in the focal degradation of the ECM in vitro and, for the first time, show a connection between Fgd1 and cancer progression, proposing that it might function during tumorigenesis. | Faciogenital dysplasia protein Fgd1 regulates invadopodia biogenesis and extracellular matrix degradation and is up-regulated in prostate and breast cancer.
Ayala I, Giacchetti G, Caldieri G, Attanasio F, Mariggiò S, Tetè S, Polishchuk R, Castronovo V, Buccione R. | 01/21/2010 |
| Brain cortex malformations such as PMG could be initiated by mutations in the evolutionary conserved RhoGEF domain of FGD1, by perturbing the signaling via Rho GTPases | Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1.
Bottani A, Orrico A, Galli L, Karam O, Haenggeli CA, Ferey S, Conrad B. | 01/21/2010 |