Publications:

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Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

International Journal Of Molecular Sciences

Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-09-19

Variant appearance in text: PSEN1: Met233Ile

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: PSEN1: M233I

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3

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Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.

Molecular Psychiatry

Petit, Dieter D; Fernández, Sara Gutiérrez SG; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Ryan, Natalie S NS; O'Connor, Antoinette A; Szaruga, Maria M; Hill, Elizabeth E; Vandenberghe, Rik R; Fox, Nick C NC; Chávez-Gutiérrez, Lucía L

Publication Date: 2022-06

Variant appearance in text: PSEN1: M233I

PubMed Link: 35365805

Variant Present in the following documents:

• Main text
• 41380_2022_Article_1518.pdf

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Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: PSEN1: M233I

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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A New Presenilin 1 (Psen1) Mutation (p.Cys263Trp) as a Cause of Both Early and Late-Onset Alzheimer's Disease in a Large Italian Family.

International Journal Of Molecular Sciences

Tortelli, Rosanna R; Seripa, Davide D; Zecca, Chiara C; Dell'Abate, Maria Teresa MT; Bisceglia, Paola P; Barulli, Maria Rosaria MR; De Blasi, Roberto R; Logroscino, Giancarlo G

Publication Date: 2021-06-09

Variant appearance in text: PSEN1: M233I

PubMed Link: 34207526

Variant Present in the following documents:

• Main text
• ijms-22-06215.pdf

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Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.

Molecular Genetics & Genomic Medicine

Qin, Qi Q; Yin, Yunsi Y; Wang, Yan Y; Lu, Yuanyuan Y; Tang, Yi Y; Jia, Jianping J

Publication Date: 2020-10

Variant appearance in text: PSEN1: M233I

PubMed Link: 32767553

Variant Present in the following documents:

• Main text
• MGG3-8-e1443.pdf

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Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications

Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH

Publication Date: 2019-07-12

Variant appearance in text: PSEN1: M233I

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

View BVdb publication page

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The role of de novo mutations in adult-onset neurodegenerative disorders.

Acta Neuropathologica

Nicolas, Gaël G; Veltman, Joris A JA

Publication Date: 2019-02

Variant appearance in text: PSEN1: 699G>C; Met233Ile

PubMed Link: 30478624

Variant Present in the following documents:

• 401_2018_1939_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.

Journal Of Movement Disorders

Appel-Cresswell, Silke S; Guella, Ilaria I; Lehman, Anna A; Foti, Dean D; Farrer, Matthew J MJ

Publication Date: 2018-01

Variant appearance in text: PSEN1: Met233Ile

PubMed Link: 29316780

Variant Present in the following documents:

• Main text
• jmd-17066.pdf

View BVdb publication page

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Assessing the Risk for Resistance and Elucidating the Genetics of Colletotrichum truncatum That Is Only Sensitive to Some DMI Fungicides.

Frontiers In Microbiology

Zhang, Can C; Diao, Yongzhao Y; Wang, Weizhen W; Hao, Jianjun J; Imran, Muhammad M; Duan, Hongxia H; Liu, Xili X

Publication Date: 2017

Variant appearance in text: PS1: M233I

PubMed Link: 28970822

Variant Present in the following documents:

• fmicb-08-01779.pdf

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APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

Plos Medicine

Lanoiselée, Hélène-Marie HM; Nicolas, Gaël G; Wallon, David D; Rovelet-Lecrux, Anne A; Lacour, Morgane M; Rousseau, Stéphane S; Richard, Anne-Claire AC; Pasquier, Florence F; Rollin-Sillaire, Adeline A; Martinaud, Olivier O; Quillard-Muraine, Muriel M; de la Sayette, Vincent V; Boutoleau-Bretonniere, Claire C; Etcharry-Bouyx, Frédérique F; Chauviré, Valérie V; Sarazin, Marie M; le Ber, Isabelle I; Epelbaum, Stéphane S; Jonveaux, Thérèse T; Rouaud, Olivier O; Ceccaldi, Mathieu M; Félician, Olivier O; Godefroy, Olivier O; Formaglio, Maite M; Croisile, Bernard B; Auriacombe, Sophie S; Chamard, Ludivine L; Vincent, Jean-Louis JL; Sauvée, Mathilde M; Marelli-Tosi, Cecilia C; Gabelle, Audrey A; Ozsancak, Canan C; Pariente, Jérémie J; Paquet, Claire C; Hannequin, Didier D; Campion, Dominique D; ,

Publication Date: 2017-03

Variant appearance in text: PSEN1: 699G>C; Met233Ile

PubMed Link: 28350801

Variant Present in the following documents:

• Main text
• pmed.1002270.pdf

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The genetics of Alzheimer's disease.

Clinical Interventions In Aging

Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2014

Variant appearance in text: PSEN1: Met233Ile

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.

Neurobiology Of Aging

Guerreiro, Rita Joao RJ; Baquero, Miquel M; Blesa, Rafael R; Boada, Mercè M; Brás, Jose Miguel JM; Bullido, Maria J MJ; Calado, Ana A; Crook, Richard R; Ferreira, Carla C; Frank, Ana A; Gómez-Isla, Teresa T; Hernández, Isabel I; Lleó, Alberto A; Machado, Alvaro A; Martínez-Lage, Pablo P; Masdeu, José J; Molina-Porcel, Laura L; Molinuevo, José L JL; Pastor, Pau P; Pérez-Tur, Jordi J; Relvas, Rute R; Oliveira, Catarina Resende CR; Ribeiro, Maria Helena MH; Rogaeva, Ekaterina E; Sa, Alfredo A; Samaranch, Lluís L; Sánchez-Valle, Raquel R; Santana, Isabel I; Tàrraga, Lluís L; Valdivieso, Fernando F; Singleton, Andrew A; Hardy, John J; Clarimón, Jordi J

Publication Date: 2010-05

Variant appearance in text: N/A

PubMed Link: 18667258

Variant Present in the following documents:

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