DNA Polymerase epsilon deficiency causes IMAGe Syndrome with variable immunodeficiency

Autor: Clare V, Logan, Jennie E, Murray, David A, Parry, Andrea, Robertson, Roberto, Bellelli, Žygimantė, Tarnauskaitė, Rachel, Challis, Louise, Cleal, Valerie, Borel, Adeline, Fluteau, Javier, Santoyo-Lopez, Tim, Aitman, Inês, Barroso, Donald, Basel, Louise S, Bicknell, Himanshu, Goel, Hao, Hu, Chad, Huff, Michele, Hutchison, Caroline, Joyce, Rachel, Knox, Amy E, Lacroix, Sylvie, Langlois, Shawn, McCandless, Julie, McCarrier, Kay A, Metcalfe, Rose, Morrissey, Nuala, Murphy, Irène, Netchine, Susan M, O'Connell, Ann Haskins, Olney, Nandina, Paria, Jill A, Rosenfeld, Mark, Sherlock, Erin, Syverson, Perrin C, White, Carol, Wise, Yao, Yu, Margaret, Zacharin, Indraneel, Banerjee, Martin, Reijns, Michael B, Bober, Robert K, Semple, Simon J, Boulton, Jonathan J, Rios, Nicola, Williams

Publikováno v: Logan, C, Murray, J, Parry, D, Robertson, A, Bellelli, R, Tarnauskaite, Z, Challis, R, Cleal, L, Borel, V, Fluteau, A, Santoyo-Lopez, J, SGP Consortium,, Aitman, T, Barroso, I, Basel, D, Bicknell, L, Goel, H, Hu, H, Huff, C, Hutchison, M, Joyce, C, Knox, R, Langlois, S, McCandless, S, McCarrier, J, Morrissey, R, Murphy, N, Netchine, I, O'Connell, S M, Olney, A H, Paria, N, Rosenfeld, J A, Sherlock, M, Syverson, E, White, P, Wise, C, Yu, Y, Zacharin, M, Banerjee, I, Reijns, M, Bober, M B, Semple, R, Boulton, S J, Rios, J J, Jackson, A & Robertson, A 2018, ' DNA Polymerase epsilon deficiency causes IMAGe Syndrome with variable immunodeficiency ', American Journal of Human Genetics, vol. 103, no. 6, pp. 1038-1044 . https://doi.org/10.1016/j.ajhg.2018.10.024
American Journal of Human Genetics

During genome replication, polymerase epsilon (Pol ε) acts as the major leading-strand DNA polymerase. Here we report the identification of biallelic mutations in POLE, encoding the Pol ε catalytic subunit POLE1, in 15 individuals from 12 families.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5251341d775fe05227776575d532ec23
https://hdl.handle.net/20.500.11820/a5b9ba45-d8e4-483e-867c-a0708daa62f5

A Four-Year, Open-Label, Multi-Center, Randomized, Two-Arm Study of Genotropin® in Patients with Idiopathic Short Stature: Comparison of an Individualized, Target-Driven Treatment Regimen to Standard Dosing of Genotropin® - Analysis of Two-Year Data

Autor: D R, Counts, L A, Silverman, M E, Geffner, N, Rajicic, J, Hey-Hadavi, P S, Thornton, M P, Wajnrajch, Michele, Hutchison

Publikováno v: Hormone Research in Paediatrics. 80:242-251

Background: Several models have been developed to predict growth response to growth hormone (GH) based on auxological and biochemical parameters for children with non-GH-deficient, idiopathic short stature (ISS). Objective: To demonstrate if an indiv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5b2a5663f1d1c5e94c2e6fb2636b94a
https://doi.org/10.1159/000354126