Publications:

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SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies.

Journal Of Immunology Research

Sevdali, Eirini E; Tsitsami, Elena E; Tsinti, Maria M; Farmaki, Evangelia E; Papadopoulou-Alataki, Efimia E; Germenis, Anastasios E AE; Speletas, Matthaios M

Publication Date: 2017

Variant appearance in text: SIAE: 1211T>C; F404S; rs201877149

PubMed Link: 28900629

Variant Present in the following documents:

• Main text
• JIR2017-1514294.pdf

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: SIAE: 1211T>C; F404S

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SIAE: F404S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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M89V Sialic acid Acetyl Esterase (SIAE) and all other non-synonymous common variants of this gene are catalytically normal.

Plos One

Chellappa, Vasant V; Taylor, Kendra N KN; Pedrick, Kathryn K; Donado, Carlos C; Netravali, Ilka Arun IA; Haider, Khaleda K; Cariappa, Annaiah A; Dalomba, Natasha F NF; Pillai, Shiv S

Publication Date: 2013

Variant appearance in text: SIAE: F404S

PubMed Link: 23308225

Variant Present in the following documents:

• Main text

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The role of functionally defective rare germline variants of sialic acid acetylesterase in autoimmune Addison's disease.

European Journal Of Endocrinology

Gan, Earn H EH; MacArthur, Katie K; Mitchell, Anna L AL; Pearce, Simon H S SH

Publication Date: 2012-12

Variant appearance in text: SIAE: F404S

PubMed Link: 23011869

Variant Present in the following documents:

• Main text
• EJE120579.pdf

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Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes.

Genes And Immunity

Hirschfield, G M GM; Xie, G G; Lu, E E; Sun, Y Y; Juran, B D BD; Chellappa, V V; Coltescu, C C; Mason, A L AL; Milkiewicz, P P; Myers, R P RP; Odin, J A JA; Luketic, V A VA; Bacon, B B; Bodenheimer, H H; Liakina, V V; Vincent, C C; Levy, C C; Pillai, S S; Lazaridis, K N KN; Amos, C I CI; Siminovitch, K A KA

Publication Date: 2012-06

Variant appearance in text: SIAE: F404S

PubMed Link: 22257840

Variant Present in the following documents:

• Main text

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Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry.

Nature Genetics

Hunt, Karen A KA; Smyth, Deborah J DJ; Balschun, Tobias T; Ban, Maria M; Mistry, Vanisha V; Ahmad, Tariq T; Anand, Vidya V; Barrett, Jeffrey C JC; Bhaw-Rosun, Leena L; Bockett, Nicholas A NA; Brand, Oliver J OJ; Brouwer, Elisabeth E; Concannon, Patrick P; Cooper, Jason D JD; Dias, Kerith-Rae M KR; van Diemen, Cleo C CC; Dubois, Patrick C PC; Edkins, Sarah S; Fölster-Holst, Regina R; Fransen, Karin K; Glass, David N DN; Heap, Graham A R GA; Hofmann, Sylvia S; Huizinga, Tom W J TW; Hunt, Sarah S; Langford, Cordelia C; Lee, James J; Mansfield, John J; Marrosu, Maria Giovanna MG; Mathew, Christopher G CG; Mein, Charles A CA; Müller-Quernheim, Joachim J; Nutland, Sarah S; Onengut-Gumuscu, Suna S; Ouwehand, Willem W; Pearce, Kerra K; Prescott, Natalie J NJ; Posthumus, Marcel D MD; Potter, Simon S; Rosati, Giulio G; Sambrook, Jennifer J; Satsangi, Jack J; Schreiber, Stefan S; Shtir, Corina C; Simmonds, Matthew J MJ; Sudman, Marc M; Thompson, Susan D SD; Toes, Rene R; Trynka, Gosia G; Vyse, Timothy J TJ; Walker, Neil M NM; Weidinger, Stephan S; Zhernakova, Alexandra A; Zoledziewska, Magdalena M; , ; , ; , ; Weersma, Rinse K RK; Gough, Stephen C L SC; Sawcer, Stephen S; Wijmenga, Cisca C; Parkes, Miles M; Cucca, Francesco F; Franke, Andre A; Deloukas, Panos P; Rich, Stephen S SS; Todd, John A JA; van Heel, David A DA

Publication Date: 2011-12-27

Variant appearance in text: SIAE: F404S

PubMed Link: 22200769

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.

Nature

Surolia, Ira I; Pirnie, Stephan P SP; Chellappa, Vasant V; Taylor, Kendra N KN; Cariappa, Annaiah A; Moya, Jesse J; Liu, Haoyuan H; Bell, Daphne W DW; Driscoll, David R DR; Diederichs, Sven S; Haider, Khaleda K; Netravali, Ilka I; Le, Sheila S; Elia, Roberto R; Dow, Ethan E; Lee, Annette A; Freudenberg, Jan J; De Jager, Philip L PL; Chretien, Yves Y; Varki, Ajit A; MacDonald, Marcy E ME; Gillis, Tammy T; Behrens, Timothy W TW; Bloch, Donald D; Collier, Deborah D; Korzenik, Joshua J; Podolsky, Daniel K DK; Hafler, David D; Murali, Mandakolathur M; Sands, Bruce B; Stone, John H JH; Gregersen, Peter K PK; Pillai, Shiv S

Publication Date: 2010-07-08

Variant appearance in text: SIAE: 1211T>C; F404S

PubMed Link: 20555325

Variant Present in the following documents:

• Main text
• nihms199054.pdf
• NIHMS199054-supplement-1.pdf

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