The role of somatic mosaicism in brain disease.
The role of somatic mosaicism in brain disease.
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DOI：
10.1016/j.gde.2020.05.002
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发表时间：
2020-12
影响因子：
4
通讯作者：
Vaccarino FM
中科院分区：
文献类型：
--
作者：
Jourdon A;Fasching L;Scuderi S;Abyzov A;Vaccarino FM
In this review we discuss the importance of genetic somatic mosaicism and its impact on brain diseases. We start from introducing the different types of somatic mutations, their frequencies and abundances across development and lifespan. We then describe how weakness in DNA repair mechanisms influence their prevalence. Finally, we address their functional consequences in the brain and review recent research showing their unsuspected importance in several neurodevelopmental, psychiatric, and neurodegenerative diseases.
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影响因子：
4
作者：
Ansari M;Poke G;Ferry Q;Williamson K;Aldridge R;Meynert AM;Bengani H;Chan CY;Kayserili H;Avci S;Hennekam RC;Lampe AK;Redeker E;Homfray T;Ross A;Falkenberg Smeland M;Mansour S;Parker MJ;Cook JA;Splitt M;Fisher RB;Fryer A;Magee AC;Wilkie A;Barnicoat A;Brady AF;Cooper NS;Mercer C;Deshpande C;Bennett CP;Pilz DT;Ruddy D;Cilliers D;Johnson DS;Josifova D;Rosser E;Thompson EM;Wakeling E;Kinning E;Stewart F;Flinter F;Girisha KM;Cox H;Firth HV;Kingston H;Wee JS;Hurst JA;Clayton-Smith J;Tolmie J;Vogt J;Tatton-Brown K;Chandler K;Prescott K;Wilson L;Behnam M;McEntagart M;Davidson R;Lynch SA;Sisodiya S;Mehta SG;McKee SA;Mohammed S;Holden S;Park SM;Holder SE;Harrison V;McConnell V;Lam WK;Green AJ;Donnai D;Bitner-Glindzicz M;Donnelly DE;Nellåker C;Taylor MS;FitzPatrick DR
通讯作者：
FitzPatrick DR
影响因子：
3.8
作者：
Alt, Frederick W.;Schwer, Bjoern
通讯作者：
Schwer, Bjoern
影响因子：
2
作者：
Ben-Omran, TI;Cerosaletti, K;Nezarati, MM
通讯作者：
Nezarati, MM
影响因子：
30.8
作者：
Date, H;Onodera, O;Tsuji, S
通讯作者：
Tsuji, S
影响因子：
7.6
作者：
Doyle, Glenn A.;Crist, Richard C.;Berrettini, Wade H.
通讯作者：
Berrettini, Wade H.