Online Mendelian Inheritance in Man (OMIM) (original) (raw)

  1. Calderwood, L., Holm, I. A., Teot, L. A., Anselm, I.Adrenal insufficiency in mitochondrial disease: a rare case of GFER-related mitochondrial encephalomyopathy and review of the literature. J. Child Neurol. 31: 190-194, 2016. [PubMed: 26018198] [Full Text: https://doi.org/10.1177/0883073815587327\]
  2. Ceh-Pavia, E., Ang, S. K., Spiller, M. P., Lu, H.The disease-associated mutation of the mitochondrial thiol oxidase Erv1 impairs cofactor binding during its catalytic reaction. Biochem. J. 464: 449-459, 2014. [PubMed: 25269795] [Full Text: https://doi.org/10.1042/BJ20140679\]
  3. Daithankar, V. N., Schaefer, S. A., Dong, M., Bahnson, B. J., Thorpe, C.Structure of the human sulfhydryl oxidase augmenter of liver regeneration and characterization of a human mutation causing an autosomal recessive myopathy. Biochemistry 49: 6737-6745, 2010. [PubMed: 20593814] [Full Text: https://doi.org/10.1021/bi100912m\]
  4. Di Fonzo, A., Ronchi, D., Lodi, T., Fassone, E., Tigano, M., Lamperti, C., Corti, S., Bordoni, A., Fortunato, F., Nizzardo, M., Napoli, L., Donadoni, C., Salani, S., Saladino, F., Moggio, M., Bresolin, N., Ferrero, I., Comi, G. P.The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am. J. Hum. Genet. 84: 594-604, 2009. [PubMed: 19409522] [Full Text: https://doi.org/10.1016/j.ajhg.2009.04.004\]
  5. Francavilla, A., Hagiya, M., Porter, K. A., Polimeno, L., Ihara, I., Starzl, T. E.Augmenter of liver regeneration: its place in the universe of hepatic growth factors. Hepatology 20: 747-757, 1994. [PubMed: 8076931]
  6. Giorda, R., Hagiya, M., Seki, T., Shimonishi, M., Sakai, H., Michaelson, J., Francavilla, A., Starzl, T. E., Trucco, M.Analysis of the structure and expression of the augmenter of liver regeneration (ALR) gene. Molec. Med. 2: 97-108, 1996. [PubMed: 8900538]
  7. Gross, M. B.Personal Communication. Baltimore, Md. 3/12/2021.
  8. Hagiya, M., Francavilla, A., Polimeno, L., Ihara, I., Sakai, H., Seki, T., Shimonishi, M., Porter, K. A., Starzl, T. E.Cloning and sequence analysis of the rat augmenter of liver regeneration (ALR) gene: expression of biologically active recombinant ALR and demonstration of tissue distribution. Proc. Nat. Acad. Sci. 91: 8142-8146, 1994. Note: Erratum Proc. Nat. Acad. Sci. 92, p. 3076 only, 1995. [PubMed: 8058770] [Full Text: https://doi.org/10.1073/pnas.91.17.8142\]
  9. Li, Y., Wei, K., Lu, C., Li, Y., Li, M., Xing, G., Wei, H., Wang, Q., Chen, J., Wu, C., Chen, H., Yang, S., He, F.Identification of hepatopoietin dimerization, its interacting regions and alternative splicing of its transcription. Europ. J. Biochem. 269: 3888-3893, 2002. [PubMed: 12180965] [Full Text: https://doi.org/10.1046/j.1432-1033.2002.03054.x\]
  10. Lisowsky, T., Weinstat-Saslow, D. L., Barton, N., Reeders, S. T., Schneider, M. C.A new human gene located in the PKD1 region of chromosome 16 is a functional homologue to ERV1 of yeast. Genomics 29: 690-697, 1995. [PubMed: 8575761] [Full Text: https://doi.org/10.1006/geno.1995.9950\]
  11. Nambot, S., Gavrilov, D., Thevenon, J., Bruel, A. L., Bainbridge, M., Rio, M., Goizet, C., Rotig, A., Jaeken, J., Niu, N., Xia, F., Vital, A., Houcinat, N., Mochel, F., Kuentz, P., Lehalle, D., Duffourd, Y., Riviere, J. B., Thauvin-Robinet, C., Beaudet, A. L., Faivre, L.Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data. Clin. Genet. 92: 188-198, 2017. [PubMed: 28155230] [Full Text: https://doi.org/10.1111/cge.12985\]
  12. North, K., Korson, M. S., Krawiecki, N., Shoffner, J. M., Holm, I. A.Oxidative phosphorylation defect associated with primary adrenal insufficiency. J. Pediat. 128: 688-692, 1996. [PubMed: 8627443] [Full Text: https://doi.org/10.1016/s0022-3476(96)80136-3\]
  13. Thevenon, J., Duffourd, Y., Masurel-Paulet, A., Lefebvre, M., Feillet, F., El Chehadeh-Djebbar, S., St-Onge, J., Steinmetz, A., Huet, F., Chouchane, M., Darmency-Stamboul, V., Callier, P., Thauvin-Robinet, C., Faivre, L., Riviere, J. F.Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test. Clin. Genet. 89: 700-707, 2016. [PubMed: 26757139] [Full Text: https://doi.org/10.1111/cge.12732\]