Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs4646955

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs4646955

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

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Gene-centric analysis of serum cotinine levels in African and European American populations.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology

Hamidovic, Ajna A; Goodloe, Robert J RJ; Bergen, Andrew W AW; Benowitz, Neal L NL; Styn, Mindi A MA; Kasberger, Jay L JL; Choquet, Helene H; Young, Taylor R TR; Meng, Yan Y; Palmer, Cameron C; Pletcher, Mark M; Kertesz, Stefan S; Hitsman, Brian B; Spring, Bonnie B; Jorgenson, Eric E

Publication Date: 2012-03

Variant appearance in text: rs4646955

PubMed Link: 22089314

Variant Present in the following documents:

• Main text

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Multiple insulin degrading enzyme variants alter in vitro reporter gene expression.

Plos One

Belbin, Olivia O; Crump, Michael M; Bisceglio, Gina D GD; Carrasquillo, Minerva M MM; Morgan, Kevin K; Younkin, Steven G SG

Publication Date: 2011

Variant appearance in text: rs4646955

PubMed Link: 21731745

Variant Present in the following documents:

• Main text
• pone.0021429.pdf

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Concordant association of insulin degrading enzyme gene (IDE) variants with IDE mRNA, Abeta, and Alzheimer's disease.

Plos One

Carrasquillo, Minerva M MM; Belbin, Olivia O; Zou, Fanggeng F; Allen, Mariet M; Ertekin-Taner, Nilufer N; Ansari, Morad M; Wilcox, Samantha L SL; Kashino, Mariah R MR; Ma, Li L; Younkin, Linda H LH; Younkin, Samuel G SG; Younkin, Curtis S CS; Dincman, Toros A TA; Howard, Melissa E ME; Howell, Chanley C CC; Stanton, Chloe M CM; Watson, Christopher M CM; Crump, Michael M; Vitart, Veronique V; Hayward, Caroline C; Hastie, Nicholas D ND; Rudan, Igor I; Campbell, Harry H; Polasek, Ozren O; Brown, Kristelle K; Passmore, Peter P; Craig, David D; McGuinness, Bernadette B; Todd, Stephen S; Kehoe, Patrick G PG; Mann, David M DM; Smith, A David AD; Beaumont, Helen H; Warden, Donald D; Holmes, Clive C; Heun, Reinhard R; Kölsch, Heike H; Kalsheker, Noor N; Pankratz, V Shane VS; Dickson, Dennis W DW; Graff-Radford, Neill R NR; Petersen, Ronald C RC; Wright, Alan F AF; Younkin, Steven G SG; Morgan, Kevin K

Publication Date: 2010-01-19

Variant appearance in text: rs4646955

PubMed Link: 20098734

Variant Present in the following documents:

• Main text
• pone.0008764.pdf

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Insulin-degrading enzyme is genetically associated with Alzheimer's disease in the Finnish population.

Journal Of Medical Genetics

Vepsäläinen, Saila S; Parkinson, Michele M; Helisalmi, Seppo S; Mannermaa, Arto A; Soininen, Hilkka H; Tanzi, Rudolph E RE; Bertram, Lars L; Hiltunen, Mikko M

Publication Date: 2007-09

Variant appearance in text: rs4646955

PubMed Link: 17496198

Variant Present in the following documents:

• Main text

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