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  1. Article ; Online: The

    Wu, Sih-Rong / Zoghbi, Huda Y

    eNeuro

    2023  Volume 10, Issue 11

    Abstract: The retina has diverse neuronal cell types derived from a common pool of retinal progenitors. Many molecular drivers, mostly transcription factors, have been identified to promote different cell fates. ... ...

    Abstract The retina has diverse neuronal cell types derived from a common pool of retinal progenitors. Many molecular drivers, mostly transcription factors, have been identified to promote different cell fates. In
    MeSH term(s) Mice ; Animals ; Amacrine Cells/metabolism ; Mice, Transgenic ; Alleles ; Retina/metabolism ; Basic Helix-Loop-Helix Transcription Factors/genetics ; Basic Helix-Loop-Helix Transcription Factors/metabolism
    Chemical Substances Cre recombinase (EC 2.7.7.-) ; Atoh1 protein, mouse ; Basic Helix-Loop-Helix Transcription Factors
    Language English
    Publishing date 2023-11-03
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2800598-3
    ISSN 2373-2822 ; 2373-2822
    ISSN (online) 2373-2822
    ISSN 2373-2822
    DOI 10.1523/ENEURO.0307-23.2023
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Strategy to selectively remove mutant proteins could combat neurodegeneration.

    Zoghbi, Huda Y

    Nature

    2019  Volume 575, Issue 7781, Page(s) 57–58

    MeSH term(s) Alleles ; Mutant Proteins
    Chemical Substances Mutant Proteins
    Language English
    Publishing date 2019-11-05
    Publishing country England
    Document type News ; Comment
    ZDB-ID 120714-3
    ISSN 1476-4687 ; 0028-0836
    ISSN (online) 1476-4687
    ISSN 0028-0836
    DOI 10.1038/d41586-019-03243-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 26: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MG 9: Show issues
    Zs.MO 244: Show issues

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  3. Article ; Online: Purkinje cells and their trees.

    Zoghbi, Huda Y / Mehta, Arpan R

    The Lancet. Neurology

    2021  Volume 20, Issue 9, Page(s) 706

    Language English
    Publishing date 2021-08-18
    Publishing country England
    Document type Journal Article
    ZDB-ID 2081241-3
    ISSN 1474-4465 ; 1474-4422
    ISSN (online) 1474-4465
    ISSN 1474-4422
    DOI 10.1016/S1474-4422(21)00243-X
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5955: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  4. Article ; Online: Solving the puzzle of neurological diseases: an interview with Huda Zoghbi.

    Zoghbi, Huda Y

    Disease models & mechanisms

    2017  Volume 10, Issue 5, Page(s) 503–507

    Abstract: Huda Zoghbi's achievements in the field of neurology are internationally acclaimed. She is best ...

    Abstract Huda Zoghbi's achievements in the field of neurology are internationally acclaimed. She is best known for elucidating the genetic basis of two complex neurological disorders, spinocerebellar ataxia type 1 and Rett syndrome, and has been honored with many prizes, including The Shaw Prize in Life Science and Medicine in 2016 and the 2017 Breakthrough Prize for Life Sciences. A diligent and creative research scientist at the bench, a respected lab mentor and founding Director of the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, her inspiration has always been the burning need to help patients faced with devastating neurological problems. Her pursuit of the mechanisms mediating spinocerebellar ataxia and Rett syndrome has been dogged, requiring 30 years of focused effort. As highlighted in this interview, her work is now paying dividends by starting to reveal potential therapeutic targets for these intractable and complex disorders.
    MeSH term(s) Animals ; Disease Models, Animal ; Humans ; Nervous System Diseases/genetics ; Nervous System Diseases/physiopathology
    Language English
    Publishing date 2017--01
    Publishing country England
    Document type Interview
    ISSN 1754-8411
    ISSN (online) 1754-8411
    DOI 10.1242/dmm.029751
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Rett Syndrome and the Ongoing Legacy of Close Clinical Observation.

    Zoghbi, Huda Y

    Cell

    2016  Volume 167, Issue 2, Page(s) 293–297

    Abstract: This year marks the ... ...

    Abstract This year marks the 50
    MeSH term(s) Child ; Female ; History, 20th Century ; Humans ; Methyl-CpG-Binding Protein 2/genetics ; Mutation ; Neurobiology/trends ; Phenotype ; Rett Syndrome/diagnosis ; Rett Syndrome/drug therapy ; Rett Syndrome/genetics ; Rett Syndrome/history
    Chemical Substances MECP2 protein, human ; Methyl-CpG-Binding Protein 2
    Language English
    Publishing date 2016-10-06
    Publishing country United States
    Document type Historical Article ; Journal Article
    ZDB-ID 187009-9
    ISSN 1097-4172 ; 0092-8674
    ISSN (online) 1097-4172
    ISSN 0092-8674
    DOI 10.1016/j.cell.2016.09.039
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1167: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MG 58: Show issues

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  6. Article ; Online: Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome.

    Achilly, Nathan P / Wang, Wei / Zoghbi, Huda Y

    Nature

    2021  Volume 592, Issue 7855, Page(s) 596–600

    Abstract: Mutations in the X-linked gene MECP2 cause Rett syndrome, a progressive neurological disorder in which children develop normally for the first one or two years of life before experiencing profound motor and cognitive ... ...

    Abstract Mutations in the X-linked gene MECP2 cause Rett syndrome, a progressive neurological disorder in which children develop normally for the first one or two years of life before experiencing profound motor and cognitive decline
    MeSH term(s) Animals ; Biomedical Enhancement/methods ; Disease Models, Animal ; Electrophysiology ; Female ; Male ; Mice ; Morris Water Maze Test ; Neurons/physiology ; Prodromal Symptoms ; Psychomotor Performance ; Rett Syndrome/physiopathology ; Rett Syndrome/prevention & control ; Rotarod Performance Test ; Spatial Learning ; Time Factors
    Language English
    Publishing date 2021-03-24
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 120714-3
    ISSN 1476-4687 ; 0028-0836
    ISSN (online) 1476-4687
    ISSN 0028-0836
    DOI 10.1038/s41586-021-03369-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 26: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MG 9: Show issues
    Zs.MO 244: Show issues

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  7. Article ; Online: The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis.

    Lavery, Laura A / Zoghbi, Huda Y

    Current opinion in neurobiology

    2019  Volume 59, Page(s) 180–188

    Abstract: Rett syndrome (RTT) is one of the most common causes of intellectual and developmental disabilities in girls, and is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). Here we will review our current understanding of RTT, the ... ...

    Abstract Rett syndrome (RTT) is one of the most common causes of intellectual and developmental disabilities in girls, and is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). Here we will review our current understanding of RTT, the landscape of pathogenic mutations and function of MeCP2, and culminate with recent advances elucidating the distinct DNA methylation landscape in the brain that may explain why disease symptoms are delayed and selective to the nervous system.
    MeSH term(s) Brain ; Female ; Humans ; Methyl-CpG-Binding Protein 2 ; Methylation ; Mutation ; Neurons ; Rett Syndrome
    Chemical Substances Methyl-CpG-Binding Protein 2
    Language English
    Publishing date 2019-09-19
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1078046-4
    ISSN 1873-6882 ; 0959-4388
    ISSN (online) 1873-6882
    ISSN 0959-4388
    DOI 10.1016/j.conb.2019.08.001
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    Zs.A 3260: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  8. Article ; Online: Solving the puzzle of neurological diseases

    Huda Y. Zoghbi

    Disease Models & Mechanisms, Vol 10, Iss 5, Pp 503-

    an interview with Huda Zoghbi

    2017  Volume 507

    Abstract: Huda Zoghbi's achievements in the field of neurology are internationally acclaimed. She is best ...

    Abstract Huda Zoghbi's achievements in the field of neurology are internationally acclaimed. She is best known for elucidating the genetic basis of two complex neurological disorders, spinocerebellar ataxia type 1 and Rett syndrome, and has been honored with many prizes, including The Shaw Prize in Life Science and Medicine in 2016 and the 2017 Breakthrough Prize for Life Sciences. A diligent and creative research scientist at the bench, a respected lab mentor and founding Director of the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, her inspiration has always been the burning need to help patients faced with devastating neurological problems. Her pursuit of the mechanisms mediating spinocerebellar ataxia and Rett syndrome has been dogged, requiring 30 years of focused effort. As highlighted in this interview, her work is now paying dividends by starting to reveal potential therapeutic targets for these intractable and complex disorders.
    Keywords Medicine ; R ; Pathology ; RB1-214
    Language English
    Publishing date 2017-05-01T00:00:00Z
    Publisher The Company of Biologists
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  9. Article ; Online: MeCP2 regulates

    Bajikar, Sameer S / Anderson, Ashley G / Zhou, Jian / Durham, Mark A / Trostle, Alexander J / Wan, Ying-Wooi / Liu, Zhandong / Zoghbi, Huda Y

    eLife

    2023  Volume 12

    Abstract: Loss- and gain-of-function of MeCP2 causes Rett syndrome (RTT) ... ...

    Abstract Loss- and gain-of-function of MeCP2 causes Rett syndrome (RTT) and
    MeSH term(s) Animals ; Mice ; Rett Syndrome ; Nervous System Physiological Phenomena ; Aging ; Disease Models, Animal ; Growth Differentiation Factors/genetics ; Bone Morphogenetic Proteins/genetics ; Methyl-CpG-Binding Protein 2/genetics
    Chemical Substances Growth Differentiation Factors ; Gdf11 protein, mouse ; Bone Morphogenetic Proteins ; Mecp2 protein, mouse ; Methyl-CpG-Binding Protein 2
    Language English
    Publishing date 2023-02-27
    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.83806
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  10. Article ; Online: Atoh1

    Wu, Sih-Rong / Butts, Jessica C / Caudill, Matthew S / Revelli, Jean-Pierre / Dhindsa, Ryan S / Durham, Mark A / Zoghbi, Huda Y

    Science advances

    2023  Volume 9, Issue 26, Page(s) eadg1671

    Abstract: Pontine nuclei (PN) neurons mediate the communication between the cerebral cortex andthe cerebellum to refine skilled motor functions. Prior studies showed that PN neurons fall into two subtypes based on their anatomic location and region-specific ... ...

    Abstract Pontine nuclei (PN) neurons mediate the communication between the cerebral cortex andthe cerebellum to refine skilled motor functions. Prior studies showed that PN neurons fall into two subtypes based on their anatomic location and region-specific connectivity, but the extent of their heterogeneity and its molecular drivers remain unknown.
    MeSH term(s) Animals ; Mice ; Cell Differentiation ; Cerebellum ; Cell Cycle ; Cell Division ; Neurons ; Basic Helix-Loop-Helix Transcription Factors/genetics
    Chemical Substances Atoh1 protein, mouse ; Basic Helix-Loop-Helix Transcription Factors
    Language English
    Publishing date 2023-06-30
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2810933-8
    ISSN 2375-2548 ; 2375-2548
    ISSN (online) 2375-2548
    ISSN 2375-2548
    DOI 10.1126/sciadv.adg1671
    Database MEDical Literature Analysis and Retrieval System OnLINE

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