Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Cell Reports. Medicine
Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10
Variant appearance in text: GALNT2: 941A>C; Asp314Ala
Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.
Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13
Variant appearance in text: GALNT2: 941A>C; Asp314Ala; rs78164071
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: GALNT2: D314A; rs78164071
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15
Variant appearance in text: GALNT2: D314A; rs78164071
Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents.
Cell Metabolism
Khetarpal, Sumeet A SA; Schjoldager, Katrine T KT; Christoffersen, Christina C; Raghavan, Avanthi A; Edmondson, Andrew C AC; Reutter, Heiko M HM; Ahmed, Bouhouche B; Ouazzani, Reda R; Peloso, Gina M GM; Vitali, Cecilia C; Zhao, Wei W; Somasundara, Amritha Varshini Hanasoge AV; Millar, John S JS; Park, YoSon Y; Fernando, Gayani G; Livanov, Valentin V; Choi, Seungbum S; Noé, Eric E; Patel, Pritesh P; Ho, Siew Peng SP; , ; Kirchgessner, Todd G TG; Wandall, Hans H HH; Hansen, Lars L; Bennett, Eric P EP; Vakhrushev, Sergey Y SY; Saleheen, Danish D; Kathiresan, Sekar S; Brown, Christopher D CD; Abou Jamra, Rami R; LeGuern, Eric E; Clausen, Henrik H; Rader, Daniel J DJ
Multiple Hepatic Regulatory Variants at the GALNT2 GWAS Locus Associated with High-Density Lipoprotein Cholesterol.
American Journal Of Human Genetics
Roman, Tamara S TS; Marvelle, Amanda F AF; Fogarty, Marie P MP; Vadlamudi, Swarooparani S; Gonzalez, Arlene J AJ; Buchkovich, Martin L ML; Huyghe, Jeroen R JR; Fuchsberger, Christian C; Jackson, Anne U AU; Wu, Ying Y; Civelek, Mete M; Lusis, Aldons J AJ; Gaulton, Kyle J KJ; Sethupathy, Praveen P; Kangas, Antti J AJ; Soininen, Pasi P; Ala-Korpela, Mika M; Kuusisto, Johanna J; Collins, Francis S FS; Laakso, Markku M; Boehnke, Michael M; Mohlke, Karen L KL
Publication Date: 2015-12-03
Variant appearance in text: GALNT2: 941A>C; Asp314Ala
A glycogene mutation map for discovery of diseases of glycosylation.
Glycobiology
Hansen, Lars L; Lind-Thomsen, Allan A; Joshi, Hiren J HJ; Pedersen, Nis Borbye NB; Have, Christian Theil CT; Kong, Yun Y; Wang, Shengjun S; Sparso, Thomas T; Grarup, Niels N; Vester-Christensen, Malene Bech MB; Schjoldager, Katrine K; Freeze, Hudson H HH; Hansen, Torben T; Pedersen, Oluf O; Henrissat, Bernard B; Mandel, Ulla U; Clausen, Henrik H; Wandall, Hans H HH; Bennett, Eric P EP
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014
Variant appearance in text: GALNT2: D314A; rs78164071
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Segregation of LIPG, CETP, and GALNT2 mutations in Caucasian families with extremely high HDL cholesterol.
Plos One
Tietjen, Ian I; Hovingh, G Kees GK; Singaraja, Roshni R RR; Radomski, Chris C; Barhdadi, Amina A; McEwen, Jason J; Chan, Elden E; Mattice, Maryanne M; Legendre, Annick A; Franchini, Patrick L PL; Dubé, Marie-Pierre MP; Kastelein, John J P JJ; Hayden, Michael R MR
Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man.
Cell Metabolism
Holleboom, Adriaan G AG; Karlsson, Helen H; Lin, Ruei-Shiuan RS; Beres, Thomas M TM; Sierts, Jeroen A JA; Herman, Daniel S DS; Stroes, Erik S G ES; Aerts, Johannes M JM; Kastelein, John J P JJ; Motazacker, Mohammad M MM; Dallinga-Thie, Geesje M GM; Levels, Johannes H M JH; Zwinderman, Aeilko H AH; Seidman, Jonathan G JG; Seidman, Christine E CE; Ljunggren, Stefan S; Lefeber, Dirk J DJ; Morava, Eva E; Wevers, Ron A RA; Fritz, Timothy A TA; Tabak, Lawrence A LA; Lindahl, Mats M; Hovingh, G Kees GK; Kuivenhoven, Jan Albert JA