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  1. Article: AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithms.

    Ljungdahl, Alicia / Kohani, Sayeh / Page, Nicholas F / Wells, Eloise S / Wigdor, Emilie M / Dong, Shan / Sanders, Stephan J

    bioRxiv : the preprint server for biology

    2023  

    Abstract: Missense variants that alter a single amino acid in the encoded protein contribute to many human disorders but pose a substantial challenge in interpretation. Though these variants can be reliably identified through sequencing, distinguishing the ... ...

    Abstract Missense variants that alter a single amino acid in the encoded protein contribute to many human disorders but pose a substantial challenge in interpretation. Though these variants can be reliably identified through sequencing, distinguishing the clinically significant ones remains difficult, such that "Variants of Unknown Significance" outnumber those classified as "Pathogenic" or "Likely Pathogenic." Numerous
    Language English
    Publishing date 2023-10-27
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.10.24.562294
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Origin of wiring specificity in an olfactory map revealed by neuron type-specific, time-lapse imaging of dendrite targeting.

    Wong, Kenneth Kin Lam / Li, Tongchao / Fu, Tian-Ming / Liu, Gaoxiang / Lyu, Cheng / Kohani, Sayeh / Xie, Qijing / Luginbuhl, David J / Upadhyayula, Srigokul / Betzig, Eric / Luo, Liqun

    eLife

    2023  Volume 12

    Abstract: How does wiring specificity of neural maps emerge during development? Formation of the ... ...

    Abstract How does wiring specificity of neural maps emerge during development? Formation of the adult
    MeSH term(s) Animals ; Drosophila melanogaster/genetics ; Olfactory Pathways ; Olfactory Receptor Neurons/physiology ; Dendrites/physiology ; Drosophila Proteins/genetics ; Drosophila Proteins/metabolism ; Time-Lapse Imaging ; Drosophila/metabolism
    Chemical Substances Drosophila Proteins
    Language English
    Publishing date 2023-03-28
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 2687154-3
    ISSN 2050-084X ; 2050-084X
    ISSN (online) 2050-084X
    ISSN 2050-084X
    DOI 10.7554/eLife.85521
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Transcription factor Acj6 controls dendrite targeting via a combinatorial cell-surface code.

    Xie, Qijing / Li, Jiefu / Li, Hongjie / Udeshi, Namrata D / Svinkina, Tanya / Orlin, Daniel / Kohani, Sayeh / Guajardo, Ricardo / Mani, D R / Xu, Chuanyun / Li, Tongchao / Han, Shuo / Wei, Wei / Shuster, S Andrew / Luginbuhl, David J / Quake, Stephen R / Murthy, Swetha E / Ting, Alice Y / Carr, Steven A /
    Luo, Liqun

    Neuron

    2022  Volume 110, Issue 14, Page(s) 2299–2314.e8

    Abstract: Transcription factors specify the fate and connectivity of developing neurons. We investigate how a lineage-specific transcription factor, Acj6, controls the precise dendrite targeting of Drosophila olfactory projection neurons (PNs) by regulating the ... ...

    Abstract Transcription factors specify the fate and connectivity of developing neurons. We investigate how a lineage-specific transcription factor, Acj6, controls the precise dendrite targeting of Drosophila olfactory projection neurons (PNs) by regulating the expression of cell-surface proteins. Quantitative cell-surface proteomic profiling of wild-type and acj6 mutant PNs in intact developing brains, and a proteome-informed genetic screen identified PN surface proteins that execute Acj6-regulated wiring decisions. These include canonical cell adhesion molecules and proteins previously not associated with wiring, such as Piezo, whose mechanosensitive ion channel activity is dispensable for its function in PN dendrite targeting. Comprehensive genetic analyses revealed that Acj6 employs unique sets of cell-surface proteins in different PN types for dendrite targeting. Combined expression of Acj6 wiring executors rescued acj6 mutant phenotypes with higher efficacy and breadth than expression of individual executors. Thus, Acj6 controls wiring specificity of different neuron types by specifying distinct combinatorial expression of cell-surface executors.
    MeSH term(s) Animals ; Dendrites/physiology ; Drosophila/metabolism ; Drosophila Proteins/metabolism ; Ion Channels/metabolism ; Membrane Proteins/metabolism ; Nerve Tissue Proteins/metabolism ; Olfactory Pathways/physiology ; Olfactory Receptor Neurons/metabolism ; POU Domain Factors/metabolism ; Proteomics ; Transcription Factors/genetics ; Transcription Factors/metabolism
    Chemical Substances Drosophila Proteins ; Ion Channels ; Membrane Proteins ; Nerve Tissue Proteins ; POU Domain Factors ; Piezo protein, Drosophila ; Transcription Factors ; acj6 protein, Drosophila (138157-26-3)
    Language English
    Publishing date 2022-05-24
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 808167-0
    ISSN 1097-4199 ; 0896-6273
    ISSN (online) 1097-4199
    ISSN 0896-6273
    DOI 10.1016/j.neuron.2022.04.026
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Temporal evolution of single-cell transcriptomes of

    Xie, Qijing / Brbic, Maria / Horns, Felix / Kolluru, Sai Saroja / Jones, Robert C / Li, Jiefu / Reddy, Anay R / Xie, Anthony / Kohani, Sayeh / Li, Zhuoran / McLaughlin, Colleen N / Li, Tongchao / Xu, Chuanyun / Vacek, David / Luginbuhl, David J / Leskovec, Jure / Quake, Stephen R / Luo, Liqun / Li, Hongjie

    eLife

    2021  Volume 10

    Abstract: Neurons undergo substantial morphological and functional changes during development to form precise synaptic connections and acquire specific physiological properties. What are the underlying transcriptomic bases? Here, we obtained the single-cell ... ...

    Abstract Neurons undergo substantial morphological and functional changes during development to form precise synaptic connections and acquire specific physiological properties. What are the underlying transcriptomic bases? Here, we obtained the single-cell transcriptomes of
    MeSH term(s) Animals ; Drosophila melanogaster/metabolism ; Neurites/metabolism ; Olfactory Nerve/metabolism ; Single-Cell Analysis ; Time Factors ; Transcriptome
    Language English
    Publishing date 2021-01-11
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2687154-3
    ISSN 2050-084X ; 2050-084X
    ISSN (online) 2050-084X
    ISSN 2050-084X
    DOI 10.7554/eLife.63450
    Database MEDical Literature Analysis and Retrieval System OnLINE

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