Harini P Tirumala
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Explore the profile of Harini P Tirumala including associated specialties, affiliations and a list of published articles.
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4
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11
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Recent Articles
1.
Bajikar S, Zhou J, OHara R, Tirumala H, Durham M, Trostle A, et al.
Neuron
. 2024 Dec;
113(3):380-395.e8.
PMID: 39689710
Mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene cause Rett syndrome, a severe childhood neurological disorder. MeCP2 is a well-established transcriptional repressor, yet upon its loss, hundreds of genes...
2.
Bajikar S, Sztainberg Y, Trostle A, Tirumala H, Wan Y, Harrop C, et al.
Hum Mol Genet
. 2024 Sep;
33(22):1986-2001.
PMID: 39277796
Genomic copy-number variations (CNVs) that can cause neurodevelopmental disorders often encompass many genes, which complicates our understanding of how individual genes within a CNV contribute to pathology. MECP2 duplication syndrome...
3.
Zhou J, Cattoglio C, Shao Y, Tirumala H, Vetralla C, Bajikar S, et al.
Genes Dev
. 2023 Oct;
37(19-20):883-900.
PMID: 37890975
Loss-of-function mutations in cause Rett syndrome (RTT), a severe neurological disorder that mainly affects girls. Mutations in do occur in males occasionally and typically cause severe encephalopathy and premature lethality....
4.
Shao Y, Bajikar S, Tirumala H, Gutierrez M, Wythe J, Zoghbi H
Genes Dev
. 2021 Mar;
35(7-8):489-494.
PMID: 33737384
While changes in MeCP2 dosage cause Rett syndrome (RTT) and duplication syndrome (MDS), its transcriptional regulation is poorly understood. Here, we identified six putative noncoding regulatory elements of , two...