Publications:

Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants.

International Journal Of Molecular Sciences

Perego, Sara S; Alari, Valentina V; Pietra, Gianluca G; Lamperti, Andrea A; Vimercati, Alessandro A; Camporeale, Nicole N; Garzo, Maria M; Cogliati, Francesca F; Milani, Donatella D; Vignoli, Aglaia A; Peron, Angela A; Larizza, Lidia L; Pizzorusso, Tommaso T; Russo, Silvia S

Publication Date: 2022-11-21

Variant appearance in text: PC: R270*

PubMed Link: 36430969

Variant Present in the following documents:

• Main text
• ijms-23-14491.pdf

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Assessment of the gut bacterial microbiome and metabolome of girls and women with Rett Syndrome.

Plos One

Thapa, Santosh S; Venkatachalam, Alamelu A; Khan, Nabeel N; Naqvi, Mohammed M; Balderas, Miriam M; Runge, Jessica K JK; Haag, Anthony A; Hoch, Kathleen M KM; Glaze, Daniel G DG; Luna, Ruth Ann RA; Motil, Kathleen J KJ

Publication Date: 2021

Variant appearance in text: PC: R270X

PubMed Link: 33956889

Variant Present in the following documents:

• Main text

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Detection of neurophysiological features in female R255X MeCP2 mutation mice.

Neurobiology Of Disease

Dong, Hong-Wei HW; Erickson, Kirsty K; Lee, Jessica R JR; Merritt, Jonathan J; Fu, Cary C; Neul, Jeffrey L JL

Publication Date: 2020-11

Variant appearance in text: PC: R270X

PubMed Link: 32927061

Variant Present in the following documents:

• Main text
• nihms-1629982.pdf

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Transcriptome level analysis in Rett syndrome using human samples from different tissues.

Orphanet Journal Of Rare Diseases

Shovlin, Stephen S; Tropea, Daniela D

Publication Date: 2018-07-11

Variant appearance in text: PC: R270X

PubMed Link: 29996871

Variant Present in the following documents:

• Main text

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The protocadherins, PCDHB1 and PCDH7, are regulated by MeCP2 in neuronal cells and brain tissues: implication for pathogenesis of Rett syndrome.

Bmc Neuroscience

Miyake, Kunio K; Hirasawa, Takae T; Soutome, Masaki M; Itoh, Masayuki M; Goto, Yu-ichi Y; Endoh, Kazushi K; Takahashi, Kenichiro K; Kudo, Shinichi S; Nakagawa, Takayuki T; Yokoi, Sana S; Taira, Takahiro T; Inazawa, Johji J; Kubota, Takeo T

Publication Date: 2011-08-08

Variant appearance in text: PC: R270X

PubMed Link: 21824415

Variant Present in the following documents:

• 1471-2202-12-81.pdf

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