Publications:

Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.

Cell Reports

Xie, Shaozhen S; Ni, Jing J; McFaline-Figueroa, J Ricardo JR; Wang, Yanzhi Y; Bronson, Roderick T RT; Ligon, Keith L KL; Wen, Patrick Y PY; Roberts, Thomas M TM; Zhao, Jean J JJ

Publication Date: 2020-09-29

Variant appearance in text: SYNJ1: T1236M

PubMed Link: 32997991

Variant Present in the following documents:

• NIHMS1633676-supplement-2.xlsx, sheet 3

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PERK-Mediated Unfolded Protein Response Activation and Oxidative Stress in PARK20 Fibroblasts.

Frontiers In Neuroscience

Amodio, Giuseppina G; Moltedo, Ornella O; Fasano, Dominga D; Zerillo, Lucrezia L; Oliveti, Marco M; Di Pietro, Paola P; Faraonio, Raffaella R; Barone, Paolo P; Pellecchia, Maria Teresa MT; De Rosa, Anna A; De Michele, Giuseppe G; Polishchuk, Elena E; Polishchuk, Roman R; Bonifati, Vincenzo V; Nitsch, Lucio L; Pierantoni, Giovanna Maria GM; Renna, Maurizio M; Criscuolo, Chiara C; Paladino, Simona S; Remondelli, Paolo P

Publication Date: 2019

Variant appearance in text: PARK20: T1236M

PubMed Link: 31316342

Variant Present in the following documents:

• Main text
• fnins-13-00673.pdf

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Mutation Analysis of Consanguineous Moroccan Patients with Parkinson's Disease Combining Microarray and Gene Panel.

Frontiers In Neurology

Bouhouche, Ahmed A; Tesson, Christelle C; Regragui, Wafaa W; Rahmani, Mounia M; Drouet, Valérie V; Tibar, Houyam H; Souirti, Zouhayr Z; Ben El Haj, Rafiqua R; Bouslam, Naima N; Yahyaoui, Mohamed M; Brice, Alexis A; Benomar, Ali A; Lesage, Suzanne S

Publication Date: 2017

Variant appearance in text: SYNJ1: T1236M; rs145937537

PubMed Link: 29163333

Variant Present in the following documents:

• Main text
• fneur-08-00567.pdf

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Genome-wide assessment of Parkinson's disease in a Southern Spanish population.

Neurobiology Of Aging

Bandrés-Ciga, Sara S; Price, Timothy Ryan TR; Barrero, Francisco Javier FJ; Escamilla-Sevilla, Francisco F; Pelegrina, Javier J; Arepalli, Sampath S; Hernández, Dena D; Gutiérrez, Blanca B; Cervilla, Jorge J; Rivera, Margarita M; Rivera, Alberto A; Ding, Jing-Hui JH; Vives, Francisco F; Nalls, Michael M; Singleton, Andrew A; Durán, Raquel R

Publication Date: 2016-09

Variant appearance in text: SYNJ1: Thr1236Met; rs145937537

PubMed Link: 27393345

Variant Present in the following documents:

• Main text

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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: SYNJ1: T1236M

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 10

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