Article
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
Human molecular genetics - 1 Sept 2018
Ashikov Angel, Abu Bakar Nurulamin, Wen Xiao-Yan, Niemeijer Marco, Rodrigues Pinto Osorio Glentino, Brand-Arzamendi Koroboshka, Hasadsri Linda, Hansikova Hana, Raymond Kimiyo, Vicogne Dorothée, Ondruskova Nina, Simon Marleen E H, Pfundt Rolph, Timal Sharita, Beumers Roel, Biot Christophe, Smeets Roel, Kersten Marjan, Huijben Karin, Linders Peter T A, van den Bogaart Geert, van Hijum Sacha A F T, Rodenburg Richard, van den Heuvel Lambertus P, van Spronsen Francjan, Honzik Tomas, Foulquier Francois, van Scherpenzeel Monique, Lefeber Dirk J, Mirjam Wamelink, Han Brunner, Helen Mundy, Helen Michelakakis, Peter van Hasselt, Jiddeke van de Kamp, Diego Martinelli, Lars Morkrid, Katja Brocke Holmefjord, Jozef Hertecant, Majid Alfadhel, Kevin Carpenter, Johann Te Water Naude
Abstract excerpt
Genomics methodologies have significantly improved elucidation of Mendelian disorders. The combination with high-throughput functional-omics technologies potentiates the identification and confirmation of causative genetic variants, especially in singleton families of recessive inheritance. In a cohort of 99 individuals with abnormal Golgi glycosylation, 47 of which being unsolved, glycomics profiling was...
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