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: L250V

PubMed Link: 36142879

Variant Present in the following documents:

• ijms-23-10970.pdf

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Alzheimer's disease and epilepsy: The top 100 cited papers.

Frontiers In Aging Neuroscience

Zhang, Gui-Fen GF; Gong, Wen-Xin WX; Xu, Zheng-Yan-Ran ZY; Guo, Yi Y

Publication Date: 2022

Variant appearance in text: PSEN1: L250V

PubMed Link: 35936776

Variant Present in the following documents:

• Main text
• fnagi-14-926982.pdf

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Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.

Genes

Oishi, Akio A; Fujinami, Kaoru K; Mawatari, Go G; Naoi, Nobuhisa N; Ikeda, Yasuhiro Y; Ueno, Shinji S; Kuniyoshi, Kazuki K; Hayashi, Takaaki T; Kondo, Hiroyuki H; Mizota, Atsushi A; Shinoda, Kei K; Kusuhara, Sentaro S; Nakamura, Makoto M; Iwata, Takeshi T; Tsujikawa, Akitaka A; Tsunoda, Kazushige K

Publication Date: 2021-11-18

Variant appearance in text: PS1: 748T>G

PubMed Link: 34828423

Variant Present in the following documents:

• Main text

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Protein Predictive Modeling and Simulation of Mutations of Presenilin-1 Familial Alzheimer's Disease on the Orthosteric Site.

Frontiers In Molecular Biosciences

Soto-Ospina, Alejandro A; Araque Marín, Pedronel P; Bedoya, Gabriel G; Sepulveda-Falla, Diego D; Villegas Lanau, Andrés A

Publication Date: 2021

Variant appearance in text: PS1: Leu250Val

PubMed Link: 34150846

Variant Present in the following documents:

• Main text
• fmolb-08-649990.pdf

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Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa.

Frontiers In Neurology

You, Chunlin C; Zeng, Weike W; Deng, Lingna L; Lei, Zhihao Z; Gao, Xinyi X; Zhang, Victor Wei VW; Wang, Yidong Y

Publication Date: 2020

Variant appearance in text: PSEN1: L250V

PubMed Link: 32431660

Variant Present in the following documents:

• fneur-11-00319.pdf

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APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

International Journal Of Molecular Sciences

Giau, Vo Van VV; Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019-09-25

Variant appearance in text: PSEN1: Leu250Val

PubMed Link: 31557888

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.

Embo Molecular Medicine

Dunbar, Lucy A LA; Patni, Pranav P; Aguilar, Carlos C; Mburu, Philomena P; Corns, Laura L; Wells, Helena Rr HR; Delmaghani, Sedigheh S; Parker, Andrew A; Johnson, Stuart S; Williams, Debbie D; Esapa, Christopher T CT; Simon, Michelle M MM; Chessum, Lauren L; Newton, Sherylanne S; Dorning, Joanne J; Jeyarajan, Prashanthini P; Morse, Susan S; Lelli, Andrea A; Codner, Gemma F GF; Peineau, Thibault T; Gopal, Suhasini R SR; Alagramam, Kumar N KN; Hertzano, Ronna R; Dulon, Didier D; Wells, Sara S; Williams, Frances M FM; Petit, Christine C; Dawson, Sally J SJ; Brown, Steve Dm SD; Marcotti, Walter W; El-Amraoui, Aziz A; Bowl, Michael R MR

Publication Date: 2019-09

Variant appearance in text: PSEN1: Leu250Val

PubMed Link: 31448880

Variant Present in the following documents:

• Main text
• EMMM-11-e10288.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: L250V

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Clinical Interventions In Aging

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

Publication Date: 2016

Variant appearance in text: PSEN1: Leu250Val

PubMed Link: 27799753

Variant Present in the following documents:

• Main text
• cia-11-1467.pdf

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Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.

Journal Of Human Genetics

Kasuga, Kensaku K; Kikuchi, Masataka M; Tokutake, Takayoshi T; Nakaya, Akihiro A; Tezuka, Toshiyuki T; Tsukie, Tamao T; Hara, Norikazu N; Miyashita, Akinori A; Kuwano, Ryozo R; Ikeuchi, Takeshi T

Publication Date: 2015-05

Variant appearance in text: PSEN1: 748T>G; Leu250Val

PubMed Link: 25694106

Variant Present in the following documents:

• jhg201515x1.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: Leu250Val

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Clinical, biological, and imaging features of monogenic Alzheimer's Disease.

Biomed Research International

Pilotto, Andrea A; Padovani, Alessandro A; Borroni, Barbara B

Publication Date: 2013

Variant appearance in text: PSEN1: L250V

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

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The usefulness of biological and neuroimaging markers for the diagnosis of early-onset Alzheimer's disease.

International Journal Of Alzheimer'S Disease

Padovani, Alessandro A; Gilberti, Nicola N; Borroni, Barbara B

Publication Date: 2011-02-21

Variant appearance in text: PSEN1: L250V

PubMed Link: 21559247

Variant Present in the following documents:

• IJAD2011-296374.pdf

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