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  1. Article: One person can make a difference: identification of people with a rare genetic lung disease.

    Horani, Amjad / Brody, Steven L

    ERJ open research

    2023  Volume 9, Issue 2

    Abstract: To improve access to care for rare conditions in resource-restricted regions, a concerted effort to establish centres of excellence and training of local physicians is ... ...

    Abstract To improve access to care for rare conditions in resource-restricted regions, a concerted effort to establish centres of excellence and training of local physicians is needed
    Language English
    Publishing date 2023-04-17
    Publishing country England
    Document type Editorial
    ZDB-ID 2827830-6
    ISSN 2312-0541
    ISSN 2312-0541
    DOI 10.1183/23120541.00122-2023
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: One person can make a difference

    Amjad Horani / Steven L. Brody

    ERJ Open Research, Vol 9, Iss

    identification of people with a rare genetic lung disease

    2023  Volume 2

    Keywords Medicine ; R
    Language English
    Publishing date 2023-04-01T00:00:00Z
    Publisher European Respiratory Society
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: Impact of Motile Ciliopathies on Human Development and Clinical Consequences in the Newborn.

    Hyland, Rachael M / Brody, Steven L

    Cells

    2021  Volume 11, Issue 1

    Abstract: Motile cilia are hairlike organelles that project outward from a tissue-restricted subset of cells to direct fluid flow. During human development motile cilia guide determination of the left-right axis in the embryo, and in the fetal and neonatal periods ...

    Abstract Motile cilia are hairlike organelles that project outward from a tissue-restricted subset of cells to direct fluid flow. During human development motile cilia guide determination of the left-right axis in the embryo, and in the fetal and neonatal periods they have essential roles in airway clearance in the respiratory tract and regulating cerebral spinal fluid flow in the brain. Dysregulation of motile cilia is best understood through the lens of the genetic disorder primary ciliary dyskinesia (PCD). PCD encompasses all genetic motile ciliopathies resulting from over 60 known genetic mutations and has a unique but often underrecognized neonatal presentation. Neonatal respiratory distress is now known to occur in the majority of patients with PCD, laterality defects are common, and very rarely brain ventricle enlargement occurs. The developmental function of motile cilia and the effect and pathophysiology of motile ciliopathies are incompletely understood in humans. In this review, we will examine the current understanding of the role of motile cilia in human development and clinical considerations when assessing the newborn for suspected motile ciliopathies.
    MeSH term(s) Cilia/pathology ; Ciliopathies/diagnosis ; Ciliopathies/pathology ; Embryonic Development ; Humans ; Infant, Newborn ; Models, Biological
    Language English
    Publishing date 2021-12-31
    Publishing country Switzerland
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2661518-6
    ISSN 2073-4409 ; 2073-4409
    ISSN (online) 2073-4409
    ISSN 2073-4409
    DOI 10.3390/cells11010125
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Simvastatin as a topical anti-inflammatory: Effect on airway epithelial cell homeostasis.

    Farrell, Nyssa Fox / Pan, Jiehong / Huang, Tao / Piccirillo, Jay F / Goldstein, Bradley J / Brody, Steven L

    International forum of allergy & rhinology

    2023  Volume 13, Issue 9, Page(s) 1817–1820

    MeSH term(s) Humans ; Simvastatin/pharmacology ; Simvastatin/therapeutic use ; Epithelial Cells ; Anti-Inflammatory Agents/therapeutic use ; Respiratory System ; Chronic Disease ; Rhinitis/drug therapy
    Chemical Substances Simvastatin (AGG2FN16EV) ; Anti-Inflammatory Agents
    Language English
    Publishing date 2023-02-21
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2625826-2
    ISSN 2042-6984 ; 2042-6976
    ISSN (online) 2042-6984
    ISSN 2042-6976
    DOI 10.1002/alr.23137
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 6927: Show issues Location:
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    ab Jg. 2022: Lesesaal (EG)

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  5. Article ; Online: Impact of Motile Ciliopathies on Human Development and Clinical Consequences in the Newborn

    Rachael M. Hyland / Steven L. Brody

    Cells, Vol 11, Iss 125, p

    2022  Volume 125

    Abstract: Motile cilia are hairlike organelles that project outward from a tissue-restricted subset of cells to direct fluid flow. During human development motile cilia guide determination of the left-right axis in the embryo, and in the fetal and neonatal periods ...

    Abstract Motile cilia are hairlike organelles that project outward from a tissue-restricted subset of cells to direct fluid flow. During human development motile cilia guide determination of the left-right axis in the embryo, and in the fetal and neonatal periods they have essential roles in airway clearance in the respiratory tract and regulating cerebral spinal fluid flow in the brain. Dysregulation of motile cilia is best understood through the lens of the genetic disorder primary ciliary dyskinesia (PCD). PCD encompasses all genetic motile ciliopathies resulting from over 60 known genetic mutations and has a unique but often underrecognized neonatal presentation. Neonatal respiratory distress is now known to occur in the majority of patients with PCD, laterality defects are common, and very rarely brain ventricle enlargement occurs. The developmental function of motile cilia and the effect and pathophysiology of motile ciliopathies are incompletely understood in humans. In this review, we will examine the current understanding of the role of motile cilia in human development and clinical considerations when assessing the newborn for suspected motile ciliopathies.
    Keywords motile cilia ; human development ; primary ciliary dyskinesia ; neonate ; Biology (General) ; QH301-705.5
    Subject code 610
    Language English
    Publishing date 2022-12-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  6. Article ; Online: Frequenting Sequencing: How Genetics Teaches Us Cilia Biology.

    Horani, Amjad / Brody, Steven L

    American journal of respiratory cell and molecular biology

    2019  Volume 61, Issue 4, Page(s) 403–404

    MeSH term(s) Cilia ; Dyneins ; Humans ; Kartagener Syndrome ; Mutation
    Chemical Substances Dyneins (EC 3.6.4.2)
    Language English
    Publishing date 2019-03-21
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 1025960-0
    ISSN 1535-4989 ; 1044-1549
    ISSN (online) 1535-4989
    ISSN 1044-1549
    DOI 10.1165/rcmb.2019-0103ED
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2851: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  7. Article ; Online: HY-DIN' in the Cilia: Discovery of Central Pair-related Mutations in Primary Ciliary Dyskinesia.

    Dutcher, Susan K / Brody, Steven L

    American journal of respiratory cell and molecular biology

    2019  Volume 62, Issue 3, Page(s) 281–282

    MeSH term(s) Axoneme ; Cilia ; Ciliary Motility Disorders ; Humans ; Microfilament Proteins ; Mutation
    Chemical Substances HYDIN protein, human ; Microfilament Proteins
    Language English
    Publishing date 2019-09-30
    Publishing country United States
    Document type Editorial ; Research Support, N.I.H., Extramural ; Comment
    ZDB-ID 1025960-0
    ISSN 1535-4989 ; 1044-1549
    ISSN (online) 1535-4989
    ISSN 1044-1549
    DOI 10.1165/rcmb.2019-0316ED
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2851: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    ab Jg. 2022: Lesesaal (EG)

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  8. Article ; Online: Neuraminidase Activity Modulates Cellular Coinfection during Influenza A Virus Multicycle Growth.

    Guo, Zijian / He, Yuanyuan / Xu, Jian / Benegal, Ananya N / Brody, Steven L / Vahey, Michael D

    mBio

    2023  Volume 14, Issue 3, Page(s) e0359122

    Abstract: Infection of individual cells by multiple virions plays critical roles in the replication and spread of many viruses, but mechanisms that control cellular coinfection during multicycle viral growth remain unclear. Here, we investigate virus-intrinsic ... ...

    Abstract Infection of individual cells by multiple virions plays critical roles in the replication and spread of many viruses, but mechanisms that control cellular coinfection during multicycle viral growth remain unclear. Here, we investigate virus-intrinsic factors that control cellular coinfection by influenza A virus (IAV). Using quantitative fluorescence to track the spread of virions from single infected cells, we identify the IAV surface protein neuraminidase (NA) as a key determinant of cellular coinfection. We map this effect to NA's ability to deplete viral receptors from both infected and neighboring uninfected cells. In cases in which viral infectious potential is low, genetic or pharmacological inhibition of NA increases the local spread of infection by increasing the viral load received by neighboring cells. These results identify virus-intrinsic factors that contribute to cellular multiplicity of infection and suggest that optimal levels of NA activity depend on the infectious potential of the virus in question.
    MeSH term(s) Animals ; Dogs ; Humans ; Influenza A virus/physiology ; Neuraminidase/genetics ; Coinfection ; Influenza, Human ; Madin Darby Canine Kidney Cells
    Chemical Substances Neuraminidase (EC 3.2.1.18)
    Language English
    Publishing date 2023-04-20
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2557172-2
    ISSN 2150-7511 ; 2161-2129
    ISSN (online) 2150-7511
    ISSN 2161-2129
    DOI 10.1128/mbio.03591-22
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Variations in infection control practices suggest a need for guidelines in primary ciliary dyskinesia patient care.

    Caliskan, Ayse B / Horani, Amjad / Manion, Michele / Brody, Steven L

    Pediatric pulmonology

    2022  Volume 57, Issue 4, Page(s) 1072–1075

    Abstract: Primary ciliary dyskinesis (PCD) is an autosomal recessive disorder associated with impaired mucociliary clearance caused by defects in ciliary structure and function. The major clinical feature of PCD is recurring or persistent respiratory tract ... ...

    Abstract Primary ciliary dyskinesis (PCD) is an autosomal recessive disorder associated with impaired mucociliary clearance caused by defects in ciliary structure and function. The major clinical feature of PCD is recurring or persistent respiratory tract infection. Respiratory tract colonization with drug-resistant organisms impacts the frequency of infections and lung function decline. Protective gear has been employed by caregivers in an attempt to control respiratory tract bacterial spread between patients with cystic fibrosis, but use in PCD is not known. We conducted a web-based survey to investigate infection control and prevention practices of PCD centers in North America, and how practices have been influenced by the COVID-19 pandemic. The response rate was 87.0%. Before the COVID-19 pandemic, glove, gown, and mask use were variable, and only 3.7% of centers used masks during encounters with PCD outpatients. After COVID-19 mandates are lifted, 48.1% of centers plan to continue to use masks during outpatient care, while the practice regarding the use of gloves and gowns was not influenced by the current pandemic. There is no uniform practice for infection control in PCD care indicating the need for practice guidelines. Mitigation of respiratory virus transmission learned during the COVID-19 pandemic may impact future infection control approaches used for patients with PCD and other lung diseases.
    MeSH term(s) COVID-19/prevention & control ; Ciliary Motility Disorders/complications ; Cystic Fibrosis/complications ; Humans ; Infection Control ; Kartagener Syndrome/complications ; Kartagener Syndrome/therapy ; Pandemics/prevention & control ; Patient Care
    Language English
    Publishing date 2022-01-28
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 632784-9
    ISSN 1099-0496 ; 8755-6863
    ISSN (online) 1099-0496
    ISSN 8755-6863
    DOI 10.1002/ppul.25836
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    Zs.A 2143: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (1.OG)
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  10. Article: Loss of an extensive ciliary connectome induces proteostasis and cell fate switching in a severe motile ciliopathy.

    Brody, Steven L / Pan, Jiehong / Huang, Tao / Xu, Jian / Xu, Huihui / Koenitizer, Jeffrey / Brennan, Steven K / Nanjundappa, Rashmi / Saba, Thomas G / Berical, Andrew / Hawkins, Finn J / Wang, Xiangli / Zhang, Rui / Mahjoub, Moe R / Horani, Amjad / Dutcher, Susan K

    bioRxiv : the preprint server for biology

    2024  

    Abstract: Motile cilia have essential cellular functions in development, reproduction, and homeostasis. Genetic causes for motile ciliopathies have been identified, but the consequences on cellular functions beyond impaired motility remain unknown. Variants ... ...

    Abstract Motile cilia have essential cellular functions in development, reproduction, and homeostasis. Genetic causes for motile ciliopathies have been identified, but the consequences on cellular functions beyond impaired motility remain unknown. Variants in
    Language English
    Publishing date 2024-03-21
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2024.03.20.585965
    Database MEDical Literature Analysis and Retrieval System OnLINE

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