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63 results

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CNTN5(-)(/+)or EHMT2(-)(/+)human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks.
Deneault E, Faheem M, White SH, Rodrigues DC, Sun S, Wei W, Piekna A, Thompson T, Howe JL, Chalil L, Kwan V, Walker S, Pasceri P, Roth FP, Yuen RK, Singh KK, Ellis J, Scherer SW. Deneault E, et al. Elife. 2019 Feb 12;8:e40092. doi: 10.7554/eLife.40092. Elife. 2019. PMID: 30747104 Free PMC article.
Our most compelling new results revealed a consistent spontaneous network hyperactivity in neurons deficient for CNTN5 or EHMT2. The biobank of iPSC-derived neurons and accompanying genomic data are available to accelerate ASD research. ...
Our most compelling new results revealed a consistent spontaneous network hyperactivity in neurons deficient for CNTN5 or EHMT2. The …
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al Saud BK, Kurdi W, Makhseed N, Alqasim T, El Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout R, Dabbagh O, Shagrani M, Broering D, Tulbah M, Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh H, AlGhonaium A, Alkharfy TM, Al Mutairi F, Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, Alenizi AS, Hussein MH, Hassan S, Khalil M, Tabarki B, Alshahwan S, Oshi A, Sabr Y, Alsaadoun S, Salih MA, Mohamed S, Sultana H, Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S, Shah … See abstract for full author list ➔ Monies D, et al. Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9. Hum Genet. 2017. PMID: 28600779 Free PMC article.
Finally, we have encountered candidate variants in 75 genes (ABHD6, ACY3, ADGRB2, ADGRG7, AGTPBP1, AHNAK2, AKAP6, ASB3, ATXN1L, C17orf62, CABP1, CCDC186, CCP110, CLSTN2, CNTN3, CNTN5, CTNNA2, CWC22, DMAP1, DMKN, DMXL1, DSCAM, DVL2, ECI1, EP400, EPB41L5, FBXL22, GAP43, GEMI …
Finally, we have encountered candidate variants in 75 genes (ABHD6, ACY3, ADGRB2, ADGRG7, AGTPBP1, AHNAK2, AKAP6, ASB3, ATXN1L, C17orf62, CA …
Contactin-5 expression during development and wiring of the thalamocortical system.
Kleijer KT, Zuko A, Shimoda Y, Watanabe K, Burbach JP. Kleijer KT, et al. Neuroscience. 2015 Dec 3;310:106-13. doi: 10.1016/j.neuroscience.2015.09.039. Epub 2015 Sep 29. Neuroscience. 2015. PMID: 26391921
So far, most research has focused on its early postnatal expression in the auditory system, where the absence of Cntn5 causes abnormal responses to acoustic stimuli and a decrease in fiber density. The current study shows that the Cntn5 gene is expressed in forebrai …
So far, most research has focused on its early postnatal expression in the auditory system, where the absence of Cntn5 causes abnorma …
[Pathophysiological mechanisms of autism in children].
Chernov AN. Chernov AN. Zh Nevrol Psikhiatr Im S S Korsakova. 2020;120(3):97-108. doi: 10.17116/jnevro202012003197. Zh Nevrol Psikhiatr Im S S Korsakova. 2020. PMID: 32323951 Review. Russian.
The results of some studies confirm the involvement of aberrant expression of genes and proteins of synaptic contacts, cell adhesion molecules p120ctn, CNTN5, CNTN6, activation of NMDA glutamate, TrkB, p75 receptors, Ca(2+)-input, BDNF, serotonin and testosterone. ...
The results of some studies confirm the involvement of aberrant expression of genes and proteins of synaptic contacts, cell adhesion molecul …
Loss of primary cilia and dopaminergic neuroprotection in pathogenic LRRK2-driven and idiopathic Parkinson's disease.
Khan SS, Jaimon E, Lin YE, Nikoloff J, Tonelli F, Alessi DR, Pfeffer SR. Khan SS, et al. Proc Natl Acad Sci U S A. 2024 Aug 6;121(32):e2402206121. doi: 10.1073/pnas.2402206121. Epub 2024 Aug 1. Proc Natl Acad Sci U S A. 2024. PMID: 39088390 Free PMC article.
In parallel with decreased striatal dopaminergic neurite density, LRRK2 G2019S neurons show increased autism-linked CNTN5 adhesion protein expression; glial cells show significant loss of ferritin heavy chain. ...
In parallel with decreased striatal dopaminergic neurite density, LRRK2 G2019S neurons show increased autism-linked CNTN5 adhesion pr …
Contactins in the neurobiology of autism.
Zuko A, Kleijer KTE, Oguro-Ando A, Kas MJH, van Daalen E, van der Zwaag B, Burbach JPH. Zuko A, et al. Eur J Pharmacol. 2013 Nov 5;719(1-3):63-74. doi: 10.1016/j.ejphar.2013.07.016. Epub 2013 Jul 17. Eur J Pharmacol. 2013. PMID: 23872404 Review.
The contactin (CNTN) family of Ig cell adhesion molecules (IgCAMs) harbours at least three members that have genetically been implicated in autism: CNTN4, CNTN5, and CNTN6. In this chapter we review the genetic and neurobiological data underpinning their role in normal and …
The contactin (CNTN) family of Ig cell adhesion molecules (IgCAMs) harbours at least three members that have genetically been implicated in …
Genetic Alterations in a Large Population of Italian Patients Affected by Neurodevelopmental Disorders.
Ranieri A, La Monica I, Di Iorio MR, Lombardo B, Pastore L. Ranieri A, et al. Genes (Basel). 2024 Mar 28;15(4):427. doi: 10.3390/genes15040427. Genes (Basel). 2024. PMID: 38674362 Free PMC article.
Some alterations contain genes potentially related to neurodevelopmental disorders including CHRNA7, ANKS1B, ANKRD11, RBFOX1, ASTN2, GABRG3, SHANK2, KIF1A SETBP1, SNTG2, CTNNA2, TOP3B, CNTN4, CNTN5, and CNTN6. The identification of interesting significant genes related to …
Some alterations contain genes potentially related to neurodevelopmental disorders including CHRNA7, ANKS1B, ANKRD11, RBFOX1, ASTN2, GABRG3, …
Structural abnormalities in the primary somatosensory cortex and a normal behavioral profile in Contactin-5 deficient mice.
Kleijer KTE, van Nieuwenhuize D, Spierenburg HA, Gregorio-Jordan S, Kas MJH, Burbach JPH. Kleijer KTE, et al. Cell Adh Migr. 2018 Jan 2;12(1):5-18. doi: 10.1080/19336918.2017.1288788. Epub 2017 Mar 27. Cell Adh Migr. 2018. PMID: 28346043 Free PMC article.
In view of its association with neurodevelopmental disorders, particularly autism spectrum disorder (ASD), this study focused on Cntn5-positive areas in the forebrain and aimed to explore the morphological and behavioral phenotypes of the Cntn5 null mutant (Cntn5 …
In view of its association with neurodevelopmental disorders, particularly autism spectrum disorder (ASD), this study focused on Cntn5 …
Unexpected phenotypic effects of a transgene integration causing a knockout of the endogenous Contactin-5 gene in mice.
Smirnov AV, Kontsevaya GV, Feofanova NA, Anisimova MV, Serova IA, Gerlinskaya LA, Battulin NR, Moshkin MP, Serov OL. Smirnov AV, et al. Transgenic Res. 2018 Feb;27(1):1-13. doi: 10.1007/s11248-017-0053-y. Epub 2017 Dec 20. Transgenic Res. 2018. PMID: 29264679
We report a novel Cntn5 knockout mouse line generated by a random transgene integration as an outcome of pronuclear microinjection. Investigation of the transgene integration site revealed that the 6Kbp transgene construct coding for the human granulocyte-macrophage colony …
We report a novel Cntn5 knockout mouse line generated by a random transgene integration as an outcome of pronuclear microinjection. I …
Sex-Specific Genetic and Transcriptomic Liability to Neuroticism.
Wendt FR, Pathak GA, Singh K, Stein MB, Koenen KC, Krystal JH, Gelernter J, Davis LK, Polimanti R. Wendt FR, et al. Biol Psychiatry. 2023 Feb 1;93(3):243-252. doi: 10.1016/j.biopsych.2022.07.019. Epub 2022 Aug 5. Biol Psychiatry. 2023. PMID: 36244801 Free PMC article.
RESULTS: The single nucleotide polymorphism heritability of neuroticism was not statistically different between males (h(2) = 10.6%) and females (h(2) = 11.85%). Four female-specific (rs10736549-CNTN5, rs6507056-ASXL3, rs2087182-MMS22L, and rs72995548-HSPB2) and 2 male-spe …
RESULTS: The single nucleotide polymorphism heritability of neuroticism was not statistically different between males (h(2) = 10.6%) and fem …
63 results