491 related articles for article (PubMed ID: 22596160)
1. KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.
Golzio C; Willer J; Talkowski ME; Oh EC; Taniguchi Y; Jacquemont S; Reymond A; Sun M; Sawa A; Gusella JF; Kamiya A; Beckmann JS; Katsanis N
Nature; 2012 May; 485(7398):363-7. PubMed ID: 22596160
[TBL] [Abstract][Full Text] [Related]
2. The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.
Loviglio MN; Arbogast T; Jønch AE; Collins SC; Popadin K; Bonnet CS; Giannuzzi G; Maillard AM; Jacquemont S; ; Yalcin B; Katsanis N; Golzio C; Reymond A
Am J Hum Genet; 2017 Oct; 101(4):564-577. PubMed ID: 28965845
[TBL] [Abstract][Full Text] [Related]
3. A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
Migliavacca E; Golzio C; Männik K; Blumenthal I; Oh EC; Harewood L; Kosmicki JA; Loviglio MN; Giannuzzi G; Hippolyte L; Maillard AM; Alfaiz AA; ; van Haelst MM; Andrieux J; Gusella JF; Daly MJ; Beckmann JS; Jacquemont S; Talkowski ME; Katsanis N; Reymond A
Am J Hum Genet; 2015 May; 96(5):784-96. PubMed ID: 25937446
[TBL] [Abstract][Full Text] [Related]
4. Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes.
Blaker-Lee A; Gupta S; McCammon JM; De Rienzo G; Sive H
Dis Model Mech; 2012 Nov; 5(6):834-51. PubMed ID: 22566537
[TBL] [Abstract][Full Text] [Related]
5. Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models.
Martin Lorenzo S; Nalesso V; Chevalier C; Birling MC; Herault Y
Mol Autism; 2021 Jan; 12(1):1. PubMed ID: 33436060
[TBL] [Abstract][Full Text] [Related]
6. Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases.
Lin GN; Corominas R; Lemmens I; Yang X; Tavernier J; Hill DE; Vidal M; Sebat J; Iakoucheva LM
Neuron; 2015 Feb; 85(4):742-54. PubMed ID: 25695269
[TBL] [Abstract][Full Text] [Related]
7. Kctd13 deletion reduces synaptic transmission via increased RhoA.
Escamilla CO; Filonova I; Walker AK; Xuan ZX; Holehonnur R; Espinosa F; Liu S; Thyme SB; López-García IA; Mendoza DB; Usui N; Ellegood J; Eisch AJ; Konopka G; Lerch JP; Schier AF; Speed HE; Powell CM
Nature; 2017 Nov; 551(7679):227-231. PubMed ID: 29088697
[TBL] [Abstract][Full Text] [Related]
8. Genetics: Fish heads and human disease.
Malhotra D; Sebat J
Nature; 2012 May; 485(7398):318-9. PubMed ID: 22596152
[No Abstract] [Full Text] [Related]
9. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
Loviglio MN; Leleu M; Männik K; Passeggeri M; Giannuzzi G; van der Werf I; Waszak SM; Zazhytska M; Roberts-Caldeira I; Gheldof N; Migliavacca E; Alfaiz AA; Hippolyte L; Maillard AM; ; ; Van Dijck A; Kooy RF; Sanlaville D; Rosenfeld JA; Shaffer LG; Andrieux J; Marshall C; Scherer SW; Shen Y; Gusella JF; Thorsteinsdottir U; Thorleifsson G; Dermitzakis ET; Deplancke B; Beckmann JS; Rougemont J; Jacquemont S; Reymond A
Mol Psychiatry; 2017 Jun; 22(6):836-849. PubMed ID: 27240531
[TBL] [Abstract][Full Text] [Related]
10. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Jacquemont S; Reymond A; Zufferey F; Harewood L; Walters RG; Kutalik Z; Martinet D; Shen Y; Valsesia A; Beckmann ND; Thorleifsson G; Belfiore M; Bouquillon S; Campion D; de Leeuw N; de Vries BB; Esko T; Fernandez BA; Fernández-Aranda F; Fernández-Real JM; Gratacòs M; Guilmatre A; Hoyer J; Jarvelin MR; Kooy RF; Kurg A; Le Caignec C; Männik K; Platt OS; Sanlaville D; Van Haelst MM; Villatoro Gomez S; Walha F; Wu BL; Yu Y; Aboura A; Addor MC; Alembik Y; Antonarakis SE; Arveiler B; Barth M; Bednarek N; Béna F; Bergmann S; Beri M; Bernardini L; Blaumeiser B; Bonneau D; Bottani A; Boute O; Brunner HG; Cailley D; Callier P; Chiesa J; Chrast J; Coin L; Coutton C; Cuisset JM; Cuvellier JC; David A; de Freminville B; Delobel B; Delrue MA; Demeer B; Descamps D; Didelot G; Dieterich K; Disciglio V; Doco-Fenzy M; Drunat S; Duban-Bedu B; Dubourg C; El-Sayed Moustafa JS; Elliott P; Faas BH; Faivre L; Faudet A; Fellmann F; Ferrarini A; Fisher R; Flori E; Forer L; Gaillard D; Gerard M; Gieger C; Gimelli S; Gimelli G; Grabe HJ; Guichet A; Guillin O; Hartikainen AL; Heron D; Hippolyte L; Holder M; Homuth G; Isidor B; Jaillard S; Jaros Z; Jiménez-Murcia S; Helas GJ; Jonveaux P; Kaksonen S; Keren B; Kloss-Brandstätter A; Knoers NV; Koolen DA; Kroisel PM; Kronenberg F; Labalme A; Landais E; Lapi E; Layet V; Legallic S; Leheup B; Leube B; Lewis S; Lucas J; MacDermot KD; Magnusson P; Marshall C; Mathieu-Dramard M; McCarthy MI; Meitinger T; Mencarelli MA; Merla G; Moerman A; Mooser V; Morice-Picard F; Mucciolo M; Nauck M; Ndiaye NC; Nordgren A; Pasquier L; Petit F; Pfundt R; Plessis G; Rajcan-Separovic E; Ramelli GP; Rauch A; Ravazzolo R; Reis A; Renieri A; Richart C; Ried JS; Rieubland C; Roberts W; Roetzer KM; Rooryck C; Rossi M; Saemundsen E; Satre V; Schurmann C; Sigurdsson E; Stavropoulos DJ; Stefansson H; Tengström C; Thorsteinsdóttir U; Tinahones FJ; Touraine R; Vallée L; van Binsbergen E; Van der Aa N; Vincent-Delorme C; Visvikis-Siest S; Vollenweider P; Völzke H; Vulto-van Silfhout AT; Waeber G; Wallgren-Pettersson C; Witwicki RM; Zwolinksi S; Andrieux J; Estivill X; Gusella JF; Gustafsson O; Metspalu A; Scherer SW; Stefansson K; Blakemore AI; Beckmann JS; Froguel P
Nature; 2011 Aug; 478(7367):97-102. PubMed ID: 21881559
[TBL] [Abstract][Full Text] [Related]
11. The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles.
Kusenda M; Vacic V; Malhotra D; Rodgers L; Pavon K; Meth J; Kumar RA; Christian SL; Peeters H; Cho SS; Addington A; Rapoport JL; Sebat J
J Child Neurol; 2015 Dec; 30(14):1947-53. PubMed ID: 26391891
[TBL] [Abstract][Full Text] [Related]
12. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Shinawi M; Liu P; Kang SH; Shen J; Belmont JW; Scott DA; Probst FJ; Craigen WJ; Graham BH; Pursley A; Clark G; Lee J; Proud M; Stocco A; Rodriguez DL; Kozel BA; Sparagana S; Roeder ER; McGrew SG; Kurczynski TW; Allison LJ; Amato S; Savage S; Patel A; Stankiewicz P; Beaudet AL; Cheung SW; Lupski JR
J Med Genet; 2010 May; 47(5):332-41. PubMed ID: 19914906
[TBL] [Abstract][Full Text] [Related]
13. Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism.
Urresti J; Zhang P; Moran-Losada P; Yu NK; Negraes PD; Trujillo CA; Antaki D; Amar M; Chau K; Pramod AB; Diedrich J; Tejwani L; Romero S; Sebat J; Yates Iii JR; Muotri AR; Iakoucheva LM
Mol Psychiatry; 2021 Dec; 26(12):7560-7580. PubMed ID: 34433918
[TBL] [Abstract][Full Text] [Related]
14. Psychotic symptoms in 16p11.2 copy-number variant carriers.
Jutla A; Turner JB; Green Snyder L; Chung WK; Veenstra-VanderWeele J
Autism Res; 2020 Feb; 13(2):187-198. PubMed ID: 31724820
[TBL] [Abstract][Full Text] [Related]
15. Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.
Blumenthal I; Ragavendran A; Erdin S; Klei L; Sugathan A; Guide JR; Manavalan P; Zhou JQ; Wheeler VC; Levin JZ; Ernst C; Roeder K; Devlin B; Gusella JF; Talkowski ME
Am J Hum Genet; 2014 Jun; 94(6):870-83. PubMed ID: 24906019
[TBL] [Abstract][Full Text] [Related]
16. Gene dosage changes in KCTD13 result in penile and testicular anomalies via diminished androgen receptor function.
Seth A; Rivera A; Chahdi A; Choi IS; Medina-Martinez O; Lewis S; O'Neill M; Ridgeway A; Moore J; Jorgez C; Lamb DJ
FASEB J; 2022 Nov; 36(11):e22567. PubMed ID: 36196997
[TBL] [Abstract][Full Text] [Related]
17. Cellular Phenotypes in Human iPSC-Derived Neurons from a Genetic Model of Autism Spectrum Disorder.
Deshpande A; Yadav S; Dao DQ; Wu ZY; Hokanson KC; Cahill MK; Wiita AP; Jan YN; Ullian EM; Weiss LA
Cell Rep; 2017 Dec; 21(10):2678-2687. PubMed ID: 29212016
[TBL] [Abstract][Full Text] [Related]
18. Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism.
Horev G; Ellegood J; Lerch JP; Son YE; Muthuswamy L; Vogel H; Krieger AM; Buja A; Henkelman RM; Wigler M; Mills AA
Proc Natl Acad Sci U S A; 2011 Oct; 108(41):17076-81. PubMed ID: 21969575
[TBL] [Abstract][Full Text] [Related]
19. Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2.
Degenhardt F; Heinemann B; Strohmaier J; Pfohl MA; Giegling I; Hofmann A; Ludwig KU; Witt SH; Ludwig M; Forstner AJ; Albus M; Schwab SG; Borrmann-Hassenbach M; Lennertz L; Wagner M; Hoffmann P; Rujescu D; Maier W; Cichon S; Rietschel M; Nöthen MM
Psychiatr Genet; 2016 Dec; 26(6):293-296. PubMed ID: 27668412
[TBL] [Abstract][Full Text] [Related]
20. 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.
Steinman KJ; Spence SJ; Ramocki MB; Proud MB; Kessler SK; Marco EJ; Green Snyder L; D'Angelo D; Chen Q; Chung WK; Sherr EH;
Am J Med Genet A; 2016 Nov; 170(11):2943-2955. PubMed ID: 27410714
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
