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  1. Article ; Online: Non-invasive

    Rosenblum, Jared S / Cappadona, Anthony J / Lookian, Pashayar P / Chandrashekhar, Vikram / Bryant, Jean-Paul / Chandrashekhar, Vibhu / Zhao, David Y / Knutsen, Russell H / Donahue, Danielle R / McGavern, Dorian B / Kozel, Beth / Heiss, John D / Zhuang, Zhengping

    Cell reports methods

    2022  Volume 2, Issue 1

    Abstract: Understanding physiologic and pathologic central nervous system function depends on our ability to map the ... ...

    Abstract Understanding physiologic and pathologic central nervous system function depends on our ability to map the entire
    MeSH term(s) Mice ; Animals ; X-Ray Microtomography/methods ; Cardiovascular System ; Skull/diagnostic imaging
    Language English
    Publishing date 2022-03-30
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Intramural
    ISSN 2667-2375
    ISSN (online) 2667-2375
    DOI 10.1016/j.crmeth.2021.100151
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Tentorial venous anatomy of mice and humans.

    Lookian, Pashayar P / Chandrashekhar, Vikram / Cappadona, Anthony / Bryant, Jean-Paul / Chandrashekhar, Vibhu / Tunacao, Jessa M / Donahue, Danielle R / Munasinghe, Jeeva P / Smirniotopoulos, James G / Heiss, John D / Zhuang, Zhengping / Rosenblum, Jared S

    JCI insight

    2021  Volume 6, Issue 21

    Abstract: We recently described a transtentorial venous system (TTVS), which to our knowledge was previously unknown, connecting venous drainage throughout the brain in humans. Prior to this finding, it was believed that the embryologic tentorial plexus regresses, ...

    Abstract We recently described a transtentorial venous system (TTVS), which to our knowledge was previously unknown, connecting venous drainage throughout the brain in humans. Prior to this finding, it was believed that the embryologic tentorial plexus regresses, resulting in a largely avascular tentorium. Our finding contradicted this understanding and necessitated further investigation into the development of the TTVS. Herein, we sought to investigate mice as a model to study the development of this system. First, using vascular casting and ex vivo micro-CT, we demonstrated that this TTVS is conserved in adult mice. Next, using high-resolution MRI, we identified the primitive tentorial venous plexus in the murine embryo at day 14.5. We also found that, at this embryologic stage, the tentorial plexus drains the choroid plexus. Finally, using vascular casting and micro-CT, we found that the TTVS is the dominant venous drainage in the early postnatal period (P8). Herein, we demonstrated that the TTVS is conserved between mice and humans, and we present a longitudinal study of its development. In addition, our findings establish mice as a translational model for further study of this system and its relationship to intracranial physiology.
    MeSH term(s) Animals ; Humans ; Mice ; Veins/anatomy & histology ; Veins/diagnostic imaging
    Language English
    Publishing date 2021-11-08
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
    ISSN 2379-3708
    ISSN (online) 2379-3708
    DOI 10.1172/jci.insight.151222
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Multimodal Atlas of the Murine Inner Ear: From Embryo to Adult.

    Bryant, Jean-Paul / Chandrashekhar, Vikram / Cappadona, Anthony J / Lookian, Pashayar P / Chandrashekhar, Vibhu / Donahue, Danielle R / Munasinghe, Jeeva B / Kim, H Jeffrey / Vortmeyer, Alexander O / Heiss, John D / Zhuang, Zhengping / Rosenblum, Jared S

    Frontiers in neurology

    2021  Volume 12, Page(s) 699674

    Abstract: The inner ear is a complex organ housed within the petrous bone of the skull. Its intimate relationship with the brain enables the transmission of auditory and vestibular signals via cranial nerves. Development of this structure from neural crest ... ...

    Abstract The inner ear is a complex organ housed within the petrous bone of the skull. Its intimate relationship with the brain enables the transmission of auditory and vestibular signals via cranial nerves. Development of this structure from neural crest begins
    Language English
    Publishing date 2021-07-15
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2021.699674
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Neuraxial dysraphism in

    Rosenblum, Jared S / Cappadona, Anthony J / Argersinger, Davis P / Pang, Ying / Wang, Herui / Nazari, Matthew A / Munasinghe, Jeeva P / Donahue, Danielle R / Jha, Abhishek / Smirniotopoulos, James G / Miettinen, Markku M / Knutsen, Russell H / Kozel, Beth A / Zhuang, Zhengping / Pacak, Karel / Heiss, John D

    Neurology. Genetics

    2020  Volume 6, Issue 3, Page(s) e414

    Abstract: Objective: To investigate the effect of somatic, postzygotic, gain-of-function mutation of Endothelial Per-Arnt-Sim (PAS) domain protein 1 (: Methods: Patients referred to our institution for evaluation of new, recurrent, and/or metastatic ... ...

    Abstract Objective: To investigate the effect of somatic, postzygotic, gain-of-function mutation of Endothelial Per-Arnt-Sim (PAS) domain protein 1 (
    Methods: Patients referred to our institution for evaluation of new, recurrent, and/or metastatic paragangliomas/pheochromocytoma were confirmed for
    Results: All 8 patients with
    Conclusions: This study characterized posterior fossa and spinal malformations seen in
    Language English
    Publishing date 2020-04-01
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2818607-2
    ISSN 2376-7839
    ISSN 2376-7839
    DOI 10.1212/NXG.0000000000000414
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Developmental vascular malformations in EPAS1 gain-of-function syndrome.

    Rosenblum, Jared S / Wang, Herui / Dmitriev, Pauline M / Cappadona, Anthony J / Mastorakos, Panagiotis / Xu, Chen / Jha, Abhishek / Edwards, Nancy / Donahue, Danielle R / Munasinghe, Jeeva / Nazari, Matthew A / Knutsen, Russell H / Rosenblum, Bruce R / Smirniotopoulos, James G / Pappo, Alberto / Spetzler, Robert F / Vortmeyer, Alexander / Gilbert, Mark R / McGavern, Dorian B /
    Chew, Emily / Kozel, Beth A / Heiss, John D / Zhuang, Zhengping / Pacak, Karel

    JCI insight

    2021  Volume 6, Issue 5

    Abstract: Mutations in EPAS1, encoding hypoxia-inducible factor-2α (HIF-2α), were previously identified in a syndrome of multiple paragangliomas, somatostatinoma, and polycythemia. HIF-2α, when dimerized with HIF-1β, acts as an angiogenic transcription factor. ... ...

    Abstract Mutations in EPAS1, encoding hypoxia-inducible factor-2α (HIF-2α), were previously identified in a syndrome of multiple paragangliomas, somatostatinoma, and polycythemia. HIF-2α, when dimerized with HIF-1β, acts as an angiogenic transcription factor. Patients referred to the NIH for new, recurrent, and/or metastatic paraganglioma or pheochromocytoma were confirmed for EPAS1 gain-of-function mutation; imaging was evaluated for vascular malformations. We evaluated the Epas1A529V transgenic syndrome mouse model, corresponding to the mutation initially detected in the patients (EPAS1A530V), for vascular malformations via intravital 2-photon microscopy of meningeal vessels, terminal vascular perfusion with Microfil silicate polymer and subsequent intact ex vivo 14T MRI and micro-CT, and histologic sectioning and staining of the brain and identified pathologies. Further, we evaluated retinas from corresponding developmental time points (P7, P14, and P21) and the adult dura via immunofluorescent labeling of vessels and confocal imaging. We identified a spectrum of vascular malformations in all 9 syndromic patients and in all our tested mutant mice. Patient vessels had higher variant allele frequency than adjacent normal tissue. Veins of the murine retina and intracranial dura failed to regress normally at the expected developmental time points. These findings add vascular malformation as a new clinical feature of EPAS1 gain-of-function syndrome.
    MeSH term(s) Adolescent ; Adult ; Animals ; Basic Helix-Loop-Helix Transcription Factors/genetics ; Female ; Gain of Function Mutation ; Gene Expression Regulation ; Humans ; Male ; Mice ; Mice, Transgenic ; Middle Aged ; Neuroendocrine Tumors/genetics ; Polycythemia/genetics ; Vascular Malformations/genetics ; Young Adult
    Chemical Substances Basic Helix-Loop-Helix Transcription Factors ; endothelial PAS domain-containing protein 1 (1B37H0967P)
    Language English
    Publishing date 2021-03-08
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Intramural
    ISSN 2379-3708
    ISSN (online) 2379-3708
    DOI 10.1172/jci.insight.144368
    Database MEDical Literature Analysis and Retrieval System OnLINE

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