Publications:

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Alterations in homologous recombination repair genes in prostate cancer brain metastases.

Nature Communications

Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA

Publication Date: 2022-05-03

Variant appearance in text: SIAE: Tyr349Cys; rs749579541

PubMed Link: 35504881

Variant Present in the following documents:

• 41467_2022_30003_MOESM5_ESM.xlsx, sheet 1

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: SIAE: Y349C

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: SIAE: Y349C

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

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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: Y349C

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: Y349C

PubMed Link: 23011869

Variant Present in the following documents:

• Main text
• EJE120579.pdf

View BVdb publication page

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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: Y349C

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: 1046A>G; Y349C

PubMed Link: 20555325

Variant Present in the following documents:

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

View BVdb publication page

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