UBE3A-mediated regulation of imprinted genes and epigenome-wide marks in human neurons

Autor: S. Jesse Lopez, Keith Dunaway, M. Saharul Islam, Charles Mordaunt, Annie Vogel Ciernia, Makiko Meguro-Horike, Shin-ichi Horike, David J. Segal, Janine M. LaSalle

Publikováno v: Epigenetics, Vol 12, Iss 11, Pp 982-990 (2017)

The dysregulation of genes in neurodevelopmental disorders that lead to social and cognitive phenotypes is a complex, multilayered process involving both genetics and epigenetics. Parent-of-origin effects of deletion and duplication of the 15q11-q13

Externí odkaz: https://doaj.org/article/4fbf819a357d429da83796bc124fa9fe

A Data-Driven Hybrid Optimization Based Deep Network Model for Short-Term Residential Load Forecasting

Autor: Shadman Sakib, Khan Md. Hasib, Ihtyaz Kader Tasawar, Abyaz Kader Tanzeem, Md. Fahim Arefin, Saharul Islam, Mohammad Shafiul Alam

Publikováno v: 2021 IEEE 12th Annual Information Technology, Electronics and Mobile Communication Conference (IEMCON).

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4fd9d5b2094ccbe5f07e9824fca315f4
https://doi.org/10.1109/iemcon53756.2021.9623080

Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome

Autor: Nycole A. Copping, Sarah G. B. Christian, Dylan J Ritter, Elizabeth L. Berg, Nathalie Buscher, Jason P. Lerch, Janine M. LaSalle, M. Saharul Islam, Dorota Zolkowska, Lawrence T. Reiter, Jill L. Silverman, Michael C. Pride, Scott V. Dindot, Jacob Ellegood

Publikováno v: Human molecular genetics, vol 26, iss 20

Maternally derived copy number gains of human chromosome 15q11.2-q13.3 (Dup15q syndrome or Dup15q) cause intellectual disability, epilepsy, developmental delay, hypotonia, speech impairments, and minor dysmorphic features. Dup15q syndrome is one of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::232c40670c942fc06c44c5d0ceca1bc3
https://doi.org/10.1093/hmg/ddx289

Integrated analysis of a compendium of RNA-Seq datasets for splicing factors

Autor: Peng, Yu, Jin, Li, Su-Ping, Deng, Feiran, Zhang, Petar N, Grozdanov, Eunice W M, Chin, Sheree D, Martin, Laurent, Vergnes, M Saharul, Islam, Deqiang, Sun, Janine M, LaSalle, Sean L, McGee, Eyleen, Goh, Clinton C, MacDonald, Peng, Jin

Publikováno v: Scientific Data

A vast amount of public RNA-sequencing datasets have been generated and used widely to study transcriptome mechanisms. These data offer precious opportunity for advancing biological research in transcriptome studies such as alternative splicing. We r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::99af9c926e1df0592b6bfcb81f010226
https://pubmed.ncbi.nlm.nih.gov/32769981

Cumulative Impact of Polychlorinated Biphenyl and Large Chromosomal Duplications on DNA Methylation, Chromatin, and Expression of Autism Candidate Genes

Autor: Shin-ichi Horike, Paul Lott, Rochelle L. Coulson, Roy G. Chu, S. Jesse Lopez, Janine M. LaSalle, M. Saharul Islam, Keith W. Dunaway, Annie Vogel Ciernia, Makiko Meguro-Horike, Isaac N. Pessah, Charles E. Mordaunt, Dag H. Yasui, Ian F Korf

Publikováno v: Dunaway, KW; Islam, MS; Coulson, RL; Lopez, SJ; Vogel Ciernia, A; Chu, RG; et al.(2016). Cumulative Impact of Polychlorinated Biphenyl and Large Chromosomal Duplications on DNA Methylation, Chromatin, and Expression of Autism Candidate Genes. Cell Reports, 17(11), 3035-3048. doi: 10.1016/j.celrep.2016.11.058. UC Davis: Retrieved from: http://www.escholarship.org/uc/item/4tx8d5kt
Cell reports, vol 17, iss 11

© 2016 The Author(s) Rare variants enriched for functions in chromatin regulation and neuronal synapses have been linked to autism. How chromatin and DNA methylation interact with environmental exposures at synaptic genes in autism etiologies is cur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bbf05bb4588356b42f7254a70bdc3ae
http://www.escholarship.org/uc/item/4tx8d5kt