Structural deficits in key domains of Shank2 lead to alterations in postsynaptic nanoclusters and to a neurodevelopmental disorder in humans.
Hassani Nia F, Woike D, Bento I, Niebling S, Tibbe D, Schulz K, Hirnet D, Skiba M, Hönck HH, Veith K, Günther C, Scholz T, Bierhals T, Driemeyer J, Bend R, Failla AV, Lohr C, Alai MG, Kreienkamp HJ., Free PMC Article

Autism patient-derived SHANK2B(Y29X) mutation affects the development of ALDH1A1 negative dopamine neuron.
Lai W, Zhao Y, Chen Y, Dai Z, Chen R, Niu Y, Chen X, Chen S, Huang G, Shan Z, Zheng J, Hu Y, Chen Q, Gong S, Kang S, Guo H, Ma X, Song Y, Xia K, Wang J, Zhou L, So KF, Wang K, Qiu S, Zhang L, Chen J, Shi L., Free PMC Article

Expression profiles of the autism-related SHANK proteins in the human brain.
Woelfle S, Pedro MT, Wagner J, Schön M, Boeckers TM., Free PMC Article

Remote ischemic conditioning alleviates chronic cerebral hypoperfusion-induced cognitive decline and synaptic dysfunction via the miR-218a-5p/SHANK2 pathway.
Li N, Ren C, Li S, Yu W, Jin K, Ji X.

Genetic Analysis Implicates Dysregulation of SHANK2 in Renal Cell Carcinoma Progression.
Chang CF, Huang SP, Hsueh YM, Geng JH, Huang CY, Bao BY., Free PMC Article

Somatic structural variation targets neurodevelopmental genes and identifies SHANK2 as a tumor suppressor in neuroblastoma.
Lopez G, Conkrite KL, Doepner M, Rathi KS, Modi A, Vaksman Z, Farra LM, Hyson E, Noureddine M, Wei JS, Smith MA, Asgharzadeh S, Seeger RC, Khan J, Guidry Auvil J, Gerhard DS, Maris JM, Diskin SJ., Free PMC Article

SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells.
Unsicker C, Cristian FB, von Hahn M, Eckstein V, Rappold GA, Berkel S., Free PMC Article

Identification of SHANK2 Pathogenic Variants in a Chinese Uygur Population with Schizophrenia.
Zhang H, Wang D, Chen J, Li X, Yi Q, Shi Y.

meQTL and ncRNA functional analyses of 102 GWAS-SNPs associated with depression implicate HACE1 and SHANK2 genes.
Ciuculete DM, Voisin S, Kular L, Jonsson J, Rask-Andersen M, Mwinyi J, Schiöth HB., Free PMC Article

Phenotypic spectrum of SHANK2-related neurodevelopmental disorder.
Caumes R, Smol T, Thuillier C, Balerdi M, Lestienne-Roche C, Manouvrier-Hanu S, Ghoumid J.

Dynamic Change of Shanks Gene mRNA Expression and DNA Methylation in Epileptic Rat Model and Human Patients.
Fu Y, Liu D, Guo J, Long H, Xiao W, Xiao W, Feng L, Luo Z, Xiao B.

A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders.
de Sena Cortabitarte A, Berkel S, Cristian FB, Fischer C, Rappold GA., Free PMC Article

Genetic association between SHANK2 polymorphisms and susceptibility to autism spectrum disorder.
Bai Y, Qiu S, Li Y, Li Y, Zhong W, Shi M, Zhu X, Jiang H, Yu Y, Cheng Y, Liu Y.

SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons.
Zaslavsky K, Zhang WB, McCready FP, Rodrigues DC, Deneault E, Loo C, Zhao M, Ross PJ, El Hajjar J, Romm A, Thompson T, Piekna A, Wei W, Wang Z, Khattak S, Mufteev M, Pasceri P, Scherer SW, Salter MW, Ellis J., Free PMC Article

De novo 11q deletion including SHANK2 in a patient with global developmental delay.
Marcou CA, Studinski Jones AL, Murphree MI, Kirmani S, Hoppman NL.

Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.
Homann OR, Misura K, Lamas E, Sandrock RW, Nelson P, McDonough SI, DeLisi LE., Free PMC Article

Depletion of SHANK2 inhibited the osteo/dentinogenic differentiation potentials of stem cells from apical papilla.
Guo L, Jin L, Du J, Zhang C, Fan Z, Wang S.

Identification and functional characterization of rare SHANK2 variants in schizophrenia.
Peykov S, Berkel S, Schoen M, Weiss K, Degenhardt F, Strohmaier J, Weiss B, Proepper C, Schratt G, Nöthen MM, Boeckers TM, Rietschel M, Rappold GA., Free PMC Article

Serum- and glucocorticoid-induced protein kinase 1 (SGK1) increases the cystic fibrosis transmembrane conductance regulator (CFTR) in airway epithelial cells by phosphorylating Shank2E protein.
Koeppen K, Coutermarsh BA, Madden DR, Stanton BA., Free PMC Article

ProSAP1 and membrane nanodomain-associated syndapin I promote postsynapse formation and function.
Schneider K, Seemann E, Liebmann L, Ahuja R, Koch D, Westermann M, Hübner CA, Kessels MM, Qualmann B., Free PMC Article

Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population.
Liu Y, Du Y, Liu W, Yang C, Liu Y, Wang H, Gong X., Free PMC Article

Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2.
Schmeisser MJ, Ey E, Wegener S, Bockmann J, Stempel AV, Kuebler A, Janssen AL, Udvardi PT, Shiban E, Spilker C, Balschun D, Skryabin BV, Dieck St, Smalla KH, Montag D, Leblond CS, Faure P, Torquet N, Le Sourd AM, Toro R, Grabrucker AM, Shoichet SA, Schmitz D, Kreutz MR, Bourgeron T, Gundelfinger ED, Boeckers TM.

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Leblond CS, Heinrich J, Delorme R, Proepper C, Betancur C, Huguet G, Konyukh M, Chaste P, Ey E, Rastam M, Anckarsäter H, Nygren G, Gillberg IC, Melke J, Toro R, Regnault B, Fauchereau F, Mercati O, Lemière N, Skuse D, Poot M, Holt R, Monaco AP, Järvelä I, Kantojärvi K, Vanhala R, Curran S, Collier DA, Bolton P, Chiocchetti A, Klauck SM, Poustka F, Freitag CM, Waltes R, Kopp M, Duketis E, Bacchelli E, Minopoli F, Ruta L, Battaglia A, Mazzone L, Maestrini E, Sequeira AF, Oliveira B, Vicente A, Oliveira G, Pinto D, Scherer SW, Zelenika D, Delepine M, Lathrop M, Bonneau D, Guinchat V, Devillard F, Assouline B, Mouren MC, Leboyer M, Gillberg C, Boeckers TM, Bourgeron T., Free PMC Article

Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology.
Berkel S, Tang W, Treviño M, Vogt M, Obenhaus HA, Gass P, Scherer SW, Sprengel R, Schratt G, Rappold GA., Free PMC Article

Functional impact of global rare copy number variation in autism spectrum disorders.
Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Sequeira AF, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stein O, Sykes N, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Webber C, Weksberg R, Wing K, Wittemeyer K, Wood S, Wu J, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Devlin B, Ennis S, Gallagher L, Geschwind DH, Gill M, Haines JL, Hallmayer J, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Scherer SW, Sutcliffe JS, Betancur C., Free PMC Article