Publications:

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Genetic Basis of ACTH-Secreting Adenomas.

International Journal Of Molecular Sciences

Locantore, Pietro P; Paragliola, Rosa Maria RM; Cera, Gianluca G; Novizio, Roberto R; Maggio, Ettore E; Ramunno, Vittoria V; Corsello, Andrea A; Corsello, Salvatore Maria SM

Publication Date: 2022-06-19

Variant appearance in text: AIP: R16H

PubMed Link: 35743266

Variant Present in the following documents:

• Main text
• ijms-23-06824.pdf

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: AIP: R16H

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: AIP: R16H; rs145047094

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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RET signalling provides tumorigenic mechanism and tissue specificity for AIP-related somatotrophinomas.

Oncogene

Garcia-Rendueles, Angela R AR; Chenlo, Miguel M; Oroz-Gonjar, Fernando F; Solomou, Antonia A; Mistry, Anisha A; Barry, Sayka S; Gaston-Massuet, Carles C; Garcia-Lavandeira, Montserrat M; Perez-Romero, Sihara S; Suarez-Fariña, Maria M; Pradilla-Dieste, Alberto A; Dieguez, Carlos C; Mehlen, Patrick P; Korbonits, Márta M; Alvarez, Clara V CV

Publication Date: 2021-11

Variant appearance in text: AIP: R16H

PubMed Link: 34588620

Variant Present in the following documents:

• Main text
• 41388_2021_Article_2009.pdf
• 41388_2021_2009_MOESM1_ESM.pdf

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Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Plos Genetics

Byrjalsen, Anna A; Hansen, Thomas V O TVO; Stoltze, Ulrik K UK; Mehrjouy, Mana M MM; Barnkob, Nanna Moeller NM; Hjalgrim, Lisa L LL; Mathiasen, René R; Lautrup, Charlotte K CK; Gregersen, Pernille A PA; Hasle, Henrik H; Wehner, Peder S PS; Tuckuviene, Ruta R; Sackett, Peter Wad PW; Laspiur, Adrian O AO; Rossing, Maria M; Marvig, Rasmus L RL; Tommerup, Niels N; Olsen, Tina Elisabeth TE; Scheie, David D; Gupta, Ramneek R; Gerdes, Anne-Marie AM; Schmiegelow, Kjeld K; Wadt, Karin K

Publication Date: 2020-12

Variant appearance in text: AIP: 47G>A; Arg16His

PubMed Link: 33332384

Variant Present in the following documents:

• pgen.1009231.s001.xlsx, sheet 2

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Clinical Relevance of Genetic Analysis in Patients With Pituitary Adenomas: A Systematic Review.

Frontiers In Endocrinology

van den Broek, Medard F M MFM; van Nesselrooij, Bernadette P M BPM; Verrijn Stuart, Annemarie A AA; van Leeuwaarde, Rachel S RS; Valk, Gerlof D GD

Publication Date: 2019

Variant appearance in text: AIP: 47G>A; R16H

PubMed Link: 31920960

Variant Present in the following documents:

• Main text
• fendo-10-00837.pdf

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In vivo bioassay to test the pathogenicity of missense human AIP variants.

Journal Of Medical Genetics

Aflorei, Elena Daniela ED; Klapholz, Benjamin B; Chen, Chenghao C; Radian, Serban S; Dragu, Anca Neluta AN; Moderau, Nina N; Prodromou, Chrisostomos C; Ribeiro, Paulo S PS; Stanewsky, Ralf R; Korbonits, Márta M

Publication Date: 2018-08

Variant appearance in text: AIP: 47G>A; R16H

PubMed Link: 29632148

Variant Present in the following documents:

• Main text
• jmedgenet-2017-105191.pdf

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Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.

Journal Of The Endocrine Society

Newey, Paul J PJ; Berg, Jonathan N JN; Zhou, Kaixin K; Palmer, Colin N A CNA; Thakker, Rajesh V RV

Publication Date: 2017-12-01

Variant appearance in text: AIP: Arg16His

PubMed Link: 29308445

Variant Present in the following documents:

• Main text

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AIP mutations in Brazilian patients with sporadic pituitary adenomas: a single-center evaluation.

Endocrine Connections

Araujo, Paula Bruna PB; Kasuki, Leandro L; de Azeredo Lima, Carlos Henrique CH; Ogino, Liana L; Camacho, Aline H S AHS; Chimelli, Leila L; Korbonits, Márta M; Gadelha, Monica R MR

Publication Date: 2017-11

Variant appearance in text: AIP: 47G>A; R16H; rs145047094

PubMed Link: 29074612

Variant Present in the following documents:

• Main text
• ec-6-914.pdf

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Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features.

Plos One

Pardi, Elena E; Borsari, Simona S; Saponaro, Federica F; Bogazzi, Fausto F; Urbani, Claudio C; Mariotti, Stefano S; Pigliaru, Francesca F; Satta, Chiara C; Pani, Fabiana F; Materazzi, Gabriele G; Miccoli, Paolo P; Grantaliano, Lorena L; Marcocci, Claudio C; Cetani, Filomena F

Publication Date: 2017

Variant appearance in text: AIP: 47G>A; Arg16His

PubMed Link: 29036195

Variant Present in the following documents:

• Main text
• pone.0186485.pdf

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A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Breast Cancer Research : Bcr

Melloni, Giorgio E M GEM; Mazzarella, Luca L; Bernard, Loris L; Bodini, Margherita M; Russo, Anna A; Luzi, Lucilla L; Pelicci, Pier Giuseppe PG; Riva, Laura L

Publication Date: 2017-05-31

Variant appearance in text: AIP: R16H; rs145047094

PubMed Link: 28569218

Variant Present in the following documents:

• 13058_2017_854_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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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: AIP: 47G>A; R16H; rs145047094

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

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Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations.

The Journal Of Clinical Endocrinology And Metabolism

Hernández-Ramírez, Laura C LC; Martucci, Federico F; Morgan, Rhodri M L RM; Trivellin, Giampaolo G; Tilley, Daniel D; Ramos-Guajardo, Nancy N; Iacovazzo, Donato D; D'Acquisto, Fulvio F; Prodromou, Chrisostomos C; Korbonits, Márta M

Publication Date: 2016-08

Variant appearance in text: AIP: 47G>A; R16H

PubMed Link: 27253664

Variant Present in the following documents:

• Main text

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs145047094

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.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: AIP: R16H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs145047094

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Regulation of aryl hydrocarbon receptor interacting protein (AIP) protein expression by MiR-34a in sporadic somatotropinomas.

Plos One

Dénes, Judit J; Kasuki, Leandro L; Trivellin, Giampaolo G; Colli, Leandro M LM; Takiya, Christina M CM; Stiles, Craig E CE; Barry, Sayka S; de Castro, Margaret M; Gadelha, Mônica R MR; Korbonits, Márta M

Publication Date: 2015

Variant appearance in text: AIP: R16H

PubMed Link: 25658813

Variant Present in the following documents:

• Main text

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An unusual case of an ACTH-secreting macroadenoma with a germline variant in the aryl hydrocarbon receptor-interacting protein (AIP) gene.

Endocrinology, Diabetes & Metabolism Case Reports

Dinesen, Pia T PT; Dal, Jakob J; Gabrovska, Plamena P; Gaustadnes, Mette M; Gravholt, Claus H CH; Stals, Karen K; Denes, Judit J; Asa, Sylvia L SL; Korbonits, Márta M; Jørgensen, Jens O L JO

Publication Date: 2015

Variant appearance in text: AIP: 47G>A; R16H

PubMed Link: 25614825

Variant Present in the following documents:

• Main text
• edmcr-2015-140105.pdf

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: AIP: R16H

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: AIP: R16H

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 41

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A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology

Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R

Publication Date: 2014-09

Variant appearance in text: AIP: R16H

PubMed Link: 25188385

Variant Present in the following documents:

• pcbi.1003825.s014.xlsx, sheet 1

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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: AIP: R16H

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene.

Endocrine Reviews

Beckers, Albert A; Aaltonen, Lauri A LA; Daly, Adrian F AF; Karhu, Auli A

Publication Date: 2013-04

Variant appearance in text: AIP: R16H

PubMed Link: 23371967

Variant Present in the following documents:

• Main text

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Familial isolated pituitary adenomas: from genetics to therapy.

Clinical And Translational Science

Guaraldi, Federica F; Salvatori, Roberto R

Publication Date: 2011-02

Variant appearance in text: AIP: R16H

PubMed Link: 21348957

Variant Present in the following documents:

• Main text

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Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families.

Human Mutation

Igreja, Susana S; Chahal, Harvinder S HS; King, Peter P; Bolger, Graeme B GB; Srirangalingam, Umasuthan U; Guasti, Leonardo L; Chapple, J Paul JP; Trivellin, Giampaolo G; Gueorguiev, Maria M; Guegan, Katie K; Stals, Karen K; Khoo, Bernard B; Kumar, Ajith V AV; Ellard, Sian S; Grossman, Ashley B AB; Korbonits, Márta M; ,

Publication Date: 2010-08

Variant appearance in text: AIP: 47G>A; R16H

PubMed Link: 20506337

Variant Present in the following documents:

• Main text

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Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Georgitsi, Marianthi M; Raitila, Anniina A; Karhu, Auli A; Tuppurainen, Karoliina K; Mäkinen, Markus J MJ; Vierimaa, Outi O; Paschke, Ralf R; Saeger, Wolfgang W; van der Luijt, Rob B RB; Sane, Timo T; Robledo, Mercedes M; De Menis, Ernesto E; Weil, Robert J RJ; Wasik, Anna A; Zielinski, Grzegorz G; Lucewicz, Olga O; Lubinski, Jan J; Launonen, Virpi V; Vahteristo, Pia P; Aaltonen, Lauri A LA

Publication Date: 2007-03-06

Variant appearance in text:

PubMed Link: 17360484

Variant Present in the following documents:

• Main text

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Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers.

British Journal Of Cancer

Georgitsi, M M; Karhu, A A; Winqvist, R R; Visakorpi, T T; Waltering, K K; Vahteristo, P P; Launonen, V V; Aaltonen, L A LA

Publication Date: 2007-01-29

Variant appearance in text: AIP: R16H

PubMed Link: 17242703

Variant Present in the following documents:

• Main text
• 6603573a.pdf

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