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  1. AU=Henderson Lindsay B.
  2. AU="Le Duff, Johanne"
  3. AU="Mutsvangwa, T"
  4. AU="Dowsey, Andrew W."
  5. AU="López-Méndez, Rosalía"
  6. AU="Maisano, Valerio"
  7. AU="Chen, Du"
  8. AU="Thomas J. LaSalle"
  9. AU=Misra Lopa
  10. AU="Rachel P. L. van Swelm"
  11. AU=Sheik Amamuddy Olivier
  12. AU="Régis Resende Paulinelli"
  13. AU=Saxon Jamie A.
  14. AU="Jarvis, Casey M"
  15. AU="Karki, Sudesha"
  16. AU="Caregnato-Neto, Angelo"
  17. AU=Iwakura Katsuomi
  18. AU="Lin, Shengyun"
  19. AU=Huang Jun
  20. AU="Leng, Jiancai"
  21. AU="Rutgers van der Loeff, Michiel M"
  22. AU="Penak, Bianca"
  23. AU="Shao, Shiliang"
  24. AU="Haro-Barceló, Júlia"
  25. AU="Jian Zeng"
  26. AU="Toyoda, Masanori"
  27. AU=Levine Ross L
  28. AU="Michael N. Antoniou"
  29. AU="Mushtaq, Rabeea"
  30. AU="Elwany Elsnosy"
  31. AU="Bertilacchi, Maria Sofia"
  32. AU="I.C.F.Wong, "
  33. AU="Pootrakul, Llana"
  34. AU="Heydari Beni, Nargess"
  35. AU="Pinter, Emily N"
  36. AU="Hogan, William J"
  37. AU="Tikute, Sanjaykumar"
  38. AU="Lu Shi"
  39. AU="A.Allocca, "
  40. AU="Collinge, Mark"
  41. AU="Fullaondo, Asier"
  42. AU="Yang, Jingrui"

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  1. Artikel ; Online: Statewide Survey of Primary Care and Subspecialty Providers on Hepatocellular Carcinoma Risk-Stratification and Surveillance Practices.

    Moon, Andrew M / Swier, Rachel M / Lane, Lindsay M / Barritt, A Sidney / Sanoff, Hanna K / Olshan, Andrew F / Wheeler, Stephanie B / Ioannou, George N / Kim, Nicole J / Hagan, Scott / Vutien, Philip / Benefield, Thad / Henderson, Louise M

    Digestive diseases and sciences

    2024  

    Abstract: Background: Hepatocellular carcinoma (HCC) surveillance in patients with cirrhosis is associated with improved survival. Provision of HCC surveillance is low in the US, particularly in primary care settings.: Aims: To evaluate current hepatitis C ... ...

    Abstract Background: Hepatocellular carcinoma (HCC) surveillance in patients with cirrhosis is associated with improved survival. Provision of HCC surveillance is low in the US, particularly in primary care settings.
    Aims: To evaluate current hepatitis C virus (HCV) and HCC surveillance practices and physician attitudes regarding HCC risk-stratification among primary care and subspecialty providers.
    Methods: Using the Tailored Design Method, we delivered a 34-item online survey to 7654 North Carolina-licensed internal/family medicine or gastroenterology/hepatology physicians and advanced practice providers in 2022. We included the domains of HCV treatment, cirrhosis diagnosis, HCC surveillance practices, barriers to surveillance, and interest in risk-stratification tools. We performed descriptive analyses to summarize responses. Tabulations were weighted based on sampling weights accounting for non-response and inter-specialty comparisons were made using chi-squared or t test statistics.
    Results: After exclusions, 266 responses were included in the final sample (response rate 3.8%). Most respondents (78%) diagnosed cirrhosis using imaging and a minority used non-invasive tests that were blood-based (~ 15%) or transient elastography (31%). Compared to primary care providers, subspecialists were more likely to perform HCC surveillance every 6-months (vs annual) (98% vs 35%, p < 0.0001). Most respondents (80%) believed there were strong data to support HCC surveillance, but primary care providers did not know which liver disease patients needed surveillance. Most providers (> 70%) expressed interest in potential solutions to improve HCC risk-stratification.
    Conclusions: In this statewide survey, there were great knowledge gaps in HCC surveillance among PCPs and most respondents expressed interest in strategies to increase appropriate HCC surveillance.
    Sprache Englisch
    Erscheinungsdatum 2024-04-23
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 304250-9
    ISSN 1573-2568 ; 0163-2116
    ISSN (online) 1573-2568
    ISSN 0163-2116
    DOI 10.1007/s10620-024-08442-5
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: EphrinB2 knockdown in cervical spinal cord preserves diaphragm innervation in a mutant SOD1 mouse model of ALS.

    Urban, Mark W / Charsar, Brittany A / Heinsinger, Nicolette M / Markandaiah, Shashirekha S / Sprimont, Lindsay / Zhou, Wei / Brown, Eric V / Henderson, Nathan T / Thomas, Samantha J / Ghosh, Biswarup / Cain, Rachel E / Trotti, Davide / Pasinelli, Piera / Wright, Megan C / Dalva, Matthew B / Lepore, Angelo C

    eLife

    2024  Band 12

    Abstract: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by motor neuron loss. Importantly, non-neuronal cell types such as astrocytes also play significant roles in disease pathogenesis. However, mechanisms of astrocyte ... ...

    Abstract Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by motor neuron loss. Importantly, non-neuronal cell types such as astrocytes also play significant roles in disease pathogenesis. However, mechanisms of astrocyte contribution to ALS remain incompletely understood. Astrocyte involvement suggests that transcellular signaling may play a role in disease. We examined contribution of transmembrane signaling molecule ephrinB2 to ALS pathogenesis, in particular its role in driving motor neuron damage by spinal cord astrocytes. In symptomatic SOD1
    Mesh-Begriff(e) Animals ; Humans ; Mice ; Amyotrophic Lateral Sclerosis/pathology ; Astrocytes/metabolism ; Cervical Cord/metabolism ; Cervical Cord/pathology ; Diaphragm/innervation ; Disease Models, Animal ; Ephrin-B2/genetics ; Mice, Transgenic ; Neurodegenerative Diseases/pathology ; Superoxide Dismutase-1/genetics ; Superoxide Dismutase-1/metabolism
    Chemische Substanzen Ephrin-B2 ; Superoxide Dismutase-1 (EC 1.15.1.1) ; EFNB2 protein, mouse
    Sprache Englisch
    Erscheinungsdatum 2024-01-15
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 2687154-3
    ISSN 2050-084X ; 2050-084X
    ISSN (online) 2050-084X
    ISSN 2050-084X
    DOI 10.7554/eLife.89298
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder.

    Cross, Laura A / McWalter, Kirsty / Keller-Ramey, Jennifer / Henderson, Lindsay B / Amudhavalli, Shivarajan M

    Clinical dysmorphology

    2020  Band 29, Heft 3, Seite(n) 161–164

    Mesh-Begriff(e) Gonads/embryology ; Humans ; Infant ; Infant, Newborn ; Male ; Mosaicism/embryology ; Mutation ; Mutation, Missense/genetics ; Neurodevelopmental Disorders/genetics ; RNA Helicases/genetics ; RNA Helicases/metabolism
    Chemische Substanzen DHX30 protein, human (EC 2.7.7.-) ; RNA Helicases (EC 3.6.4.13)
    Sprache Englisch
    Erscheinungsdatum 2020-01-15
    Erscheinungsland England
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 1121482-x
    ISSN 1473-5717 ; 0962-8827
    ISSN (online) 1473-5717
    ISSN 0962-8827
    DOI 10.1097/MCD.0000000000000316
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: Intellectual disability syndrome associated with a homozygous founder variant in

    Birnbaum, Rivka / Ezer, Shlomit / Lotan, Nava Shaul / Eilat, Avital / Sternlicht, Keren / Benyamini, Lilach / Reish, Orit / Falik-Zaccai, Tzipora / Ben-Gad, Gali / Rod, Raya / Segel, Reeval / Kim, Katherine / Burton, Barabra / Keegan, Catherine E / Wagner, Mallory / Henderson, Lindsay B / Mor, Nofar / Barel, Ortal / Hirsch, Yoel /
    Meiner, Vardiella / Elpeleg, Orly / Harel, Tamar / Mor-Shakad, Hagar

    Journal of medical genetics

    2024  Band 61, Heft 3, Seite(n) 289–293

    Abstract: Background: Neurodevelopmental disorders (NDDs) impact both the development and functioning of the brain and exhibit clinical and genetic variability. RAP and RAB proteins, belonging to the RAS superfamily, are identified as established contributors to ... ...

    Abstract Background: Neurodevelopmental disorders (NDDs) impact both the development and functioning of the brain and exhibit clinical and genetic variability. RAP and RAB proteins, belonging to the RAS superfamily, are identified as established contributors to NDDs. However, the involvement of SGSM (small G protein signalling modulator), another member of the RAS family, in NDDs has not been previously documented.
    Methods: Proband-only or trio exome sequencing was performed on DNA samples obtained from affected individuals and available family members. The variant prioritisation process focused on identifying rare deleterious variants. International collaboration aided in the identification of additional affected individuals.
    Results: We identified 13 patients from 8 families of Ashkenazi Jewish origin who all carried the same homozygous frameshift variant in
    Conclusions: An Ashkenazi Jewish homozygous founder variant in
    Mesh-Begriff(e) Humans ; Intellectual Disability/genetics ; Jews/genetics ; Homozygote ; Syndrome ; Neurodevelopmental Disorders
    Sprache Englisch
    Erscheinungsdatum 2024-02-21
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmg-2023-109504
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel ; Online: Biallelic Loss-of-Function Variants in

    Hirsch, Yoel / Chung, Wendy K / Novoselov, Sergey / Weimer, Louis H / Rossor, Alexander / LeDuc, Charles A / McPartland, Amanda J / Cabrera, Ernesto / Ekstein, Josef / Scher, Sholem / Nelson, Rick F / Schiavo, Giampietro / Henderson, Lindsay B / Booth, Kevin T A

    International journal of molecular sciences

    2023  Band 24, Heft 10

    Abstract: Hearing loss and peripheral neuropathy are two clinical entities that are genetically and phenotypically heterogeneous and sometimes co-occurring. Using exome sequencing and targeted segregation analysis, we investigated the genetic etiology of ... ...

    Abstract Hearing loss and peripheral neuropathy are two clinical entities that are genetically and phenotypically heterogeneous and sometimes co-occurring. Using exome sequencing and targeted segregation analysis, we investigated the genetic etiology of peripheral neuropathy and hearing loss in a large Ashkenazi Jewish family. Moreover, we assessed the production of the candidate protein via western blotting of lysates from fibroblasts from an affected individual and an unaffected control. Pathogenic variants in known disease genes associated with hearing loss and peripheral neuropathy were excluded. A homozygous frameshift variant in the
    Mesh-Begriff(e) Humans ; Adaptor Proteins, Signal Transducing/genetics ; Cytoskeletal Proteins/genetics ; Deafness/genetics ; Hearing Loss/genetics ; Pedigree ; Peripheral Nervous System Diseases/genetics ; Phenotype
    Chemische Substanzen Adaptor Proteins, Signal Transducing ; BICD1 protein, human ; Cytoskeletal Proteins
    Sprache Englisch
    Erscheinungsdatum 2023-05-17
    Erscheinungsland Switzerland
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms24108897
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  6. Artikel ; Online: In Vivo Functional Effects of

    Henderson, Lindsay M / Hopkins, Scarlett E / Boyer, Bert B / Thornton, Timothy A / Rettie, Allan E / Thummel, Kenneth E

    Drug metabolism and disposition: the biological fate of chemicals

    2021  Band 49, Heft 5, Seite(n) 345–352

    Abstract: Alaska Native people are under-represented in genetic research but have unique gene variation that may critically impact their response to pharmacotherapy. Full resequencing ... ...

    Abstract Alaska Native people are under-represented in genetic research but have unique gene variation that may critically impact their response to pharmacotherapy. Full resequencing of
    Mesh-Begriff(e) Adult ; Alaska Natives/genetics ; Anti-Inflammatory Agents, Non-Steroidal/administration & dosage ; Anti-Inflammatory Agents, Non-Steroidal/urine ; Cross-Sectional Studies ; Cytochrome P-450 CYP2C9/genetics ; Cytochrome P-450 CYP2C9/metabolism ; Female ; Genetic Variation/genetics ; Humans ; Leucine/genetics ; Male ; Methionine/genetics ; Naproxen/administration & dosage ; Naproxen/urine ; Young Adult
    Chemische Substanzen Anti-Inflammatory Agents, Non-Steroidal ; Naproxen (57Y76R9ATQ) ; Methionine (AE28F7PNPL) ; CYP2C9 protein, human (EC 1.14.13.-) ; Cytochrome P-450 CYP2C9 (EC 1.14.13.-) ; Leucine (GMW67QNF9C)
    Sprache Englisch
    Erscheinungsdatum 2021-02-25
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 186795-7
    ISSN 1521-009X ; 0090-9556
    ISSN (online) 1521-009X
    ISSN 0090-9556
    DOI 10.1124/dmd.120.000301
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  7. Artikel ; Online: EphrinB2 knockdown in cervical spinal cord preserves diaphragm innervation in a mutant SOD1 mouse model of ALS

    Mark W Urban / Brittany A Charsar / Nicolette M Heinsinger / Shashirekha S Markandaiah / Lindsay Sprimont / Wei Zhou / Eric V Brown / Nathan T Henderson / Samantha J Thomas / Biswarup Ghosh / Rachel E Cain / Davide Trotti / Piera Pasinelli / Megan C Wright / Matthew B Dalva / Angelo C Lepore

    eLife, Vol

    2024  Band 12

    Abstract: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by motor neuron loss. Importantly, non-neuronal cell types such as astrocytes also play significant roles in disease pathogenesis. However, mechanisms of astrocyte ... ...

    Abstract Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by motor neuron loss. Importantly, non-neuronal cell types such as astrocytes also play significant roles in disease pathogenesis. However, mechanisms of astrocyte contribution to ALS remain incompletely understood. Astrocyte involvement suggests that transcellular signaling may play a role in disease. We examined contribution of transmembrane signaling molecule ephrinB2 to ALS pathogenesis, in particular its role in driving motor neuron damage by spinal cord astrocytes. In symptomatic SOD1G93A mice (a well-established ALS model), ephrinB2 expression was dramatically increased in ventral horn astrocytes. Reducing ephrinB2 in the cervical spinal cord ventral horn via viral-mediated shRNA delivery reduced motor neuron loss and preserved respiratory function by maintaining phrenic motor neuron innervation of diaphragm. EphrinB2 expression was also elevated in human ALS spinal cord. These findings implicate ephrinB2 upregulation as both a transcellular signaling mechanism in mutant SOD1-associated ALS and a promising therapeutic target.
    Schlagwörter ALS ; astrocyte ; motor neuron ; ephrin ; respiratory ; Medicine ; R ; Science ; Q ; Biology (General) ; QH301-705.5
    Sprache Englisch
    Erscheinungsdatum 2024-01-01T00:00:00Z
    Verlag eLife Sciences Publications Ltd
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  8. Artikel ; Online: Exercise, programmed cell death and exhaustion of cardiomyocyte proliferation in aging zebrafish.

    Murphy, Lindsay B / Santos-Ledo, Adrian / Dhanaseelan, Tamilvendhan / Eley, Lorraine / Burns, David / Henderson, Deborah J / Chaudhry, Bill

    Disease models & mechanisms

    2021  Band 14, Heft 7

    Abstract: Exercise may ameliorate the eventual heart failure inherent in human aging. In this study, we use zebrafish to understand how aging and exercise affect cardiomyocyte turnover and myocardial remodelling. We show that cardiomyocyte proliferation remains ... ...

    Abstract Exercise may ameliorate the eventual heart failure inherent in human aging. In this study, we use zebrafish to understand how aging and exercise affect cardiomyocyte turnover and myocardial remodelling. We show that cardiomyocyte proliferation remains constant throughout life but that onset of fibrosis is associated with a late increase in apoptosis. These findings correlate with decreases in voluntary swimming activity, critical swimming speed (Ucrit), and increases in biomarkers of cardiac insufficiency. The ability to respond to severe physiological stress is also impaired with age. Although young adult fish respond with robust cardiomyocyte proliferation in response to enforced swimming, this is dramatically impaired in older fish and served by a smaller proliferation-competent cardiomyocyte population. Finally, we show that these aging responses can be improved through increased activity throughout adulthood. However, despite improvement in Ucrit and the proliferative response to stress, the size of the proliferating cardiomyocyte population remained unchanged. The zebrafish heart models human aging and reveals the important trade-off between preserving cardiovascular fitness through exercise at the expense of accelerated fibrotic change.
    Mesh-Begriff(e) Aging/physiology ; Animals ; Apoptosis ; Cell Proliferation ; Heart/physiology ; Myocytes, Cardiac/metabolism ; Zebrafish/metabolism
    Sprache Englisch
    Erscheinungsdatum 2021-07-22
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2451104-3
    ISSN 1754-8411 ; 1754-8403
    ISSN (online) 1754-8411
    ISSN 1754-8403
    DOI 10.1242/dmm.049013
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  9. Artikel: EphrinB2 knockdown in cervical spinal cord preserves diaphragm innervation in a mutant SOD1 mouse model of ALS.

    Urban, Mark W / Charsar, Brittany A / Heinsinger, Nicolette M / Markandaiah, Shashirekha S / Sprimont, Lindsay / Zhou, Wei / Brown, Eric V / Henderson, Nathan T / Thomas, Samantha J / Ghosh, Biswarup / Cain, Rachel E / Trotti, Davide / Pasinelli, Piera / Wright, Megan C / Dalva, Matthew B / Lepore, Angelo C

    bioRxiv : the preprint server for biology

    2023  

    Abstract: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by motor neuron loss. Importantly, non-neuronal cell types such as astrocytes also play significant roles in disease pathogenesis. However, mechanisms of astrocyte ... ...

    Abstract Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by motor neuron loss. Importantly, non-neuronal cell types such as astrocytes also play significant roles in disease pathogenesis. However, mechanisms of astrocyte contribution to ALS remain incompletely understood. Astrocyte involvement suggests that transcellular signaling may play a role in disease. We examined contribution of transmembrane signaling molecule ephrinB2 to ALS pathogenesis, in particular its role in driving motor neuron damage by spinal cord astrocytes. In symptomatic SOD1-G93A mice (a well-established ALS model), ephrinB2 expression was dramatically increased in ventral horn astrocytes. Reducing ephrinB2 in the cervical spinal cord ventral horn via viral-mediated shRNA delivery reduced motor neuron loss and preserved respiratory function by maintaining phrenic motor neuron innervation of diaphragm. EphrinB2 expression was also elevated in human ALS spinal cord. These findings implicate ephrinB2 upregulation as both a transcellular signaling mechanism in mutant SOD1-associated ALS and a promising therapeutic target.
    Sprache Englisch
    Erscheinungsdatum 2023-10-30
    Erscheinungsland United States
    Dokumenttyp Preprint
    DOI 10.1101/2023.05.10.538887
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  10. Artikel ; Online: Exercise, programmed cell death and exhaustion of cardiomyocyte proliferation in aging zebrafish

    Lindsay B. Murphy / Adrian Santos-Ledo / Tamilvendhan Dhanaseelan / Lorraine Eley / David Burns / Deborah J. Henderson / Bill Chaudhry

    Disease Models & Mechanisms, Vol 14, Iss

    2021  Band 7

    Abstract: Exercise may ameliorate the eventual heart failure inherent in human aging. In this study, we use zebrafish to understand how aging and exercise affect cardiomyocyte turnover and myocardial remodelling. We show that cardiomyocyte proliferation remains ... ...

    Abstract Exercise may ameliorate the eventual heart failure inherent in human aging. In this study, we use zebrafish to understand how aging and exercise affect cardiomyocyte turnover and myocardial remodelling. We show that cardiomyocyte proliferation remains constant throughout life but that onset of fibrosis is associated with a late increase in apoptosis. These findings correlate with decreases in voluntary swimming activity, critical swimming speed (Ucrit), and increases in biomarkers of cardiac insufficiency. The ability to respond to severe physiological stress is also impaired with age. Although young adult fish respond with robust cardiomyocyte proliferation in response to enforced swimming, this is dramatically impaired in older fish and served by a smaller proliferation-competent cardiomyocyte population. Finally, we show that these aging responses can be improved through increased activity throughout adulthood. However, despite improvement in Ucrit and the proliferative response to stress, the size of the proliferating cardiomyocyte population remained unchanged. The zebrafish heart models human aging and reveals the important trade-off between preserving cardiovascular fitness through exercise at the expense of accelerated fibrotic change.
    Schlagwörter cardiomyocyte turnover ; fibrosis ; aging ; zebrafish heart ; exercise ; Medicine ; R ; Pathology ; RB1-214
    Sprache Englisch
    Erscheinungsdatum 2021-07-01T00:00:00Z
    Verlag The Company of Biologists
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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