Zobrazeno 1 - 10
of 91
pro vyhledávání: '"David J Picketts"'
Publikováno v:
PLoS Biology, Vol 18, Iss 1, p e3000594 (2020)
Alpha thalassemia/mental retardation syndrome X-linked chromatin remodeler (ATRX), a DAXX (death domain-associated protein) interacting protein, is often lost in cells using the alternative lengthening of telomeres (ALT) pathway, but it is not known
Externí odkaz:
https://doaj.org/article/6305feaaad94470f9d5501a0e2e77e4b
Publikováno v:
PLoS ONE, Vol 12, Iss 11, p e0186989 (2017)
Reduced muscle mass due to pathological development can occur through several mechanisms, including the loss or reduced proliferation of muscle stem cells. Muscle-specific ablation of the α-thalassemia mental retardation syndrome mutant protein, Atr
Externí odkaz:
https://doaj.org/article/2d60244ad36f4c36a93cd93610000456
Publikováno v:
PLoS ONE, Vol 7, Iss 12, p e52167 (2012)
Prevalent cell death in forebrain- and Sertoli cell-specific Atrx knockout mice suggest that Atrx is important for cell survival. However, conditional ablation in other tissues is not associated with increased death indicating that diverse cell types
Externí odkaz:
https://doaj.org/article/0cd1acc35d0940fba915eebf382ff07e
Publikováno v:
Journal of Neuroinflammation, Vol 16, Iss 1, Pp 1-15 (2019)
Abstract Background Conditional ablation of the Smarca5 gene in mice severely impairs the postnatal growth of the cerebellum and causes an ataxic phenotype. Comparative gene expression studies indicated that complement-related proteins were upregulat
Externí odkaz:
https://doaj.org/article/f0efe60264d4403e974ff5c9e8051cbe
Autor:
Matías Alvarez-Saavedra, Keqin Yan, Yves De Repentigny, Lukas E. Hashem, Nidhi Chaudary, Shihab Sarwar, Doo Yang, Ilya Ioshikhes, Rashmi Kothary, Teruyoshi Hirayama, Takeshi Yagi, David J. Picketts
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 12 (2019)
Alterations in the homeostasis of either cortical progenitor pool, namely the apically located radial glial (RG) cells or the basal intermediate progenitors (IPCs) can severely impair cortical neuron production. Such changes are reflected by microcep
Externí odkaz:
https://doaj.org/article/d7220e31b12f4750869ddc345c3882b8
Autor:
Rebekah Tillotson, Keqin Yan, Julie Ruston, Taylor de Young, Alex Córdova, Valérie Turcotte- Cardin, Yohan Yee, Christine Taylor, Shagana Visuvanathan, Christian Babbs, Evgueni A Ivakine, John G Sled, Brian J Nieman, David J Picketts, Monica J Justice
Publikováno v:
Human Molecular Genetics.
ATRX is a chromatin remodelling ATPase that is involved in transcriptional regulation, DNA damage repair and heterochromatin maintenance. It has been widely studied for its role in ALT-positive cancers, but its role in neurological function remains e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5deafe9293a06140aac6f5c50adfcedd
https://doi.org/10.1093/hmg/ddad075
https://doi.org/10.1093/hmg/ddad075
Publikováno v:
Hum Mol Genet
Heterozygous variants in bromodomain and plant homeodomain containing transcription factor (BPTF) cause the neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) syndrome (MIM#617755) characterized by intellectual disa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95039255004c90f41c0c9e60a963d8d4
https://doi.org/10.1093/hmg/ddac119
https://doi.org/10.1093/hmg/ddac119
Autor:
Aalaa S Abdallah, Herminio J Cardona, Samantha L Gadd, Daniel J Brat, Plamena P Powla, Waleed S Alruwalli, Chen Shen, David J Picketts, Xiao-Nan Li, Oren J Becher
Publikováno v:
Neuro-Oncology Advances. 5
BackgroundPediatric high-grade gliomas (pHGGs) are aggressive pediatric CNS tumors and an important subset are characterized by mutations in H3F3A, the gene that encodes Histone H3.3 (H3.3). Substitution of Glycine at position 34 of H3.3 with either
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7828e8c50944fb0c1f50f5bcd935972f
https://doi.org/10.1093/noajnl/vdad003
https://doi.org/10.1093/noajnl/vdad003
Autor:
Keqin Yan, Jozef Gecz, Lucianne Vandeleur, Jinghua Hu, David J. Picketts, Shihab Sarwar, Jason P. Lerch, Raies Ahmed, Lily R. Qiu, Mark A. Corbett, Valérie Cardin, Gerardo Zapata
Publikováno v:
Hum Mol Genet
The PHF6 mutation c.1024C > T; p.R342X, is a recurrent cause of Börjeson–Forssman–Lehmann Syndrome (BFLS), a neurodevelopmental disorder characterized by moderate–severe intellectual disability, truncal obesity, gynecomastia, hypogonadism, lon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f27aab0d3b375b7560a76916998b89d4
https://doi.org/10.1093/hmg/ddab081
https://doi.org/10.1093/hmg/ddab081
Autor:
Hannah L. Gillis, Alena Kalinina, Yingben Xue, Keqin Yan, Valérie Turcotte-Cardin, Matthew A.M. Todd, Kevin G. Young, Diane Lagace, David J. Picketts
Publikováno v:
Experimental Neurology. 362:114326
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c192d6d4da829c1fa7df5693ec19b3f2
https://doi.org/10.1016/j.expneurol.2023.114326
https://doi.org/10.1016/j.expneurol.2023.114326