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Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1pathogenic alleles worldwide

Autor: Gonzaga-Jauregui, Claudia, Yesil, Gozde, Nistala, Harikiran, Gezdirici, Alper, Bayram, Yavuz, Nannuru, Kalyan C., Pehlivan, Davut, Yuan, Bo, Jimenez, Johanna, Sahin, Yavuz, Paine, Ingrid S., Akdemir, Zeynep Coban, Rajamani, Saathyaki, Staples, Jeffrey, Dronzek, John, Howell, Kristen, Fatih, Jawid M., Smaldone, Silvia, Schlesinger, Alan E., Ramírez, Norman, Cornier, Alberto S., Kelly, Melissa A., Haber, Robert, Chim, Shek Man, Nieman, Kristy, Wu, Nan, Walls, Johnathon, Poueymirou, William, Siao, Chia-Jen, Sutton, V. Reid, Williams, Marc S., Posey, Jennifer E., Gibbs, Richard A., Carlo, Simon, Tegay, David H., Economides, Aris N., Lupski, James R.

Publikováno v: European Journal of Human Genetics: EJHG; September 2020, Vol. 28 Issue: 9 p1243-1264, 22p

NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.

Autor: Nistala H; Regeneron Genetics Center, Tarrytown, NY 10591, USA., Dronzek J; Regeneron Genetics Center, Tarrytown, NY 10591, USA., Gonzaga-Jauregui C; Regeneron Genetics Center, Tarrytown, NY 10591, USA., Chim SM; Regeneron Genetics Center, Tarrytown, NY 10591, USA., Rajamani S; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Nuwayhid S; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Delgado D; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Burke E; Undiagnosed Diseases Program Translational Laboratory, NHGRI, National Institutes of Health, Bethesda, MD 20892, USA., Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Franklin MC; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Sarangapani P; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Podgorski M; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Tang Y; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Dominguez MG; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Withers M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Deckelbaum RA; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Scheonherr CJ; Regeneron Genetics Center, Tarrytown, NY 10591, USA., Gahl WA; Undiagnosed Diseases Program Translational Laboratory, NHGRI, National Institutes of Health, Bethesda, MD 20892, USA., Malicdan MC; Undiagnosed Diseases Program Translational Laboratory, NHGRI, National Institutes of Health, Bethesda, MD 20892, USA., Zambrowicz B; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Gale NW; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Chung WK; Columbia University Medical Center, New York, NY 10032, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA., Economides AN; Regeneron Genetics Center, Tarrytown, NY 10591, USA.; Regeneron Pharmaceuticals, Inc., Tarrytown, NY 10591, USA.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2021 Jan 06; Vol. 29 (21), pp. 3516-3531.