LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 1257

Search options

  1. Article ; Online: A Scalable, Cell-based Method for the Functional Assessment of Ube3a Variants.

    Stelzer, Jalin A / Yi, Jason J

    Journal of visualized experiments : JoVE

    2022  , Issue 188

    Abstract: The increased use of sequencing in medicine has identified millions of coding variants in the human genome. Many of these variants occur in genes associated with neurodevelopmental disorders, but the functional significance of the vast majority of ... ...

    Abstract The increased use of sequencing in medicine has identified millions of coding variants in the human genome. Many of these variants occur in genes associated with neurodevelopmental disorders, but the functional significance of the vast majority of variants remains unknown. The present protocol describes the study of variants for Ube3a, a gene that encodes an E3 ubiquitin ligase linked to both autism and Angelman syndrome. Duplication or triplication of Ube3a is strongly linked to autism, whereas its deletion causes Angelman syndrome. Thus, understanding the valence of changes in UBE3A protein activity is important for clinical outcomes. Here, a rapid, cell-based method that pairs Ube3a variants with a Wnt pathway reporter is described. This simple assay is scalable and can be used to determine the valence and magnitude of activity changes in any Ube3a variant. Moreover, the facility of this method allows the generation of a wealth of structure-function information, which can be used to gain deep insights into the enzymatic mechanisms of UBE3A.
    MeSH term(s) Humans ; Angelman Syndrome/genetics ; Angelman Syndrome/metabolism ; Ubiquitin-Protein Ligases/genetics ; Ubiquitin-Protein Ligases/metabolism ; Autistic Disorder ; Wnt Signaling Pathway ; Gene Expression
    Chemical Substances Ubiquitin-Protein Ligases (EC 2.3.2.27) ; UBE3A protein, human (EC 2.3.2.26)
    Language English
    Publishing date 2022-10-10
    Publishing country United States
    Document type Journal Article ; Video-Audio Media ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 2259946-0
    ISSN 1940-087X ; 1940-087X
    ISSN (online) 1940-087X
    ISSN 1940-087X
    DOI 10.3791/64454
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article: Weak correlation between osteoporotic-like vertebral fracture severity and densitometric T-scores in older Chinese men.

    Wáng, Yì Xiáng J / Leung, Jason C S / Lam, Patti M S / Kwok, Timothy C Y

    Annals of translational medicine

    2023  Volume 11, Issue 10, Page(s) 374

    Language English
    Publishing date 2023-06-21
    Publishing country China
    Document type Journal Article
    ZDB-ID 2893931-1
    ISSN 2305-5847 ; 2305-5839
    ISSN (online) 2305-5847
    ISSN 2305-5839
    DOI 10.21037/atm-23-639
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  3. Article ; Online: Melvin is a conversational voice interface for cancer genomics data.

    Perera, Akila R / Warrier, Vinay / Sundararaman, Shwetha / Hsiao, Yi / Ghosh, Soumita / Kularatnarajah, Linganesan / Pitt, Jason J

    Communications biology

    2024  Volume 7, Issue 1, Page(s) 30

    MeSH term(s) Communication ; Neoplasms/genetics
    Language English
    Publishing date 2024-01-05
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 2399-3642
    ISSN (online) 2399-3642
    DOI 10.1038/s42003-023-05688-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  4. Article ; Online: Melvin is a conversational voice interface for cancer genomics data

    Akila R. Perera / Vinay Warrier / Shwetha Sundararaman / Yi Hsiao / Soumita Ghosh / Linganesan Kularatnarajah / Jason J. Pitt

    Communications Biology, Vol 7, Iss 1, Pp 1-

    2024  Volume 6

    Abstract: Despite large collections of cancer genomics data being openly available, the inability to quickly interrogate this information remains a barrier for researchers and oncologists. Here we present Melvin, an Amazon Alexa skill to explore cancer genomics ... ...

    Abstract Despite large collections of cancer genomics data being openly available, the inability to quickly interrogate this information remains a barrier for researchers and oncologists. Here we present Melvin, an Amazon Alexa skill to explore cancer genomics data through simple conversations.
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2024-01-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  5. Article ; Online: Conversion of osteoporotic-like vertebral fracture severity score to osteoporosis T-score equivalent status: A framework study for older Chinese men.

    Wáng, Yì Xiáng J / Leung, Jason C S / Lam, Patti M S / Kwok, Timothy C Y

    Osteoporosis and sarcopenia

    2023  Volume 9, Issue 1, Page(s) 14–21

    Abstract: Objectives: To define what portion of older community men with what severity of radiographic osteoporotic-like vertebral fracture (OLVF) correspond to what low T-score status.: Methods: There were 755 community Chinese men (age: 76.4 ± 6.7 years) ... ...

    Abstract Objectives: To define what portion of older community men with what severity of radiographic osteoporotic-like vertebral fracture (OLVF) correspond to what low T-score status.
    Methods: There were 755 community Chinese men (age: 76.4 ± 6.7 years) with thoracic and lumbar spine radiographs, and hip and lumbar spine bone mineral density measures. For each vertebra in a subject, a score of 0, -0.5, -1, -1.5, -2, -2.5, and -3 was assigned for no OLVF or OLVF of <20%, ≥ 20-25%, ≥ 2 5%-1/3, ≥ 1/3-40%, ≥ 40%-2/3, and ≥ 2/3 vertebral height loss, respectively. OLVFss was defined as the summed score of vertebrae T4 to L5. OLVFss and T-scores were ranked from the smallest to the largest values.
    Results: OLVFss of -2, -2.5, -3, corresponded to a mean femoral neck T-score of -2.297 (range: -2.355∼-2.247), -2.494 (range: -2.637∼ -2.363), and -2.773 (range: -2.898∼-2.643), a mean hip T-score of-2.311 (range: -2.420∼-2.234), -2.572 (range: -2.708∼-2.432), -2.911 (range: -3.134∼-2.708), a mean lumbar spine T-score of -2.495 (range: -2.656∼-2.403), -2.931 (range: -3.255∼-2.664), and -3.369 (range: -3.525∼-3.258). The Pearson correlation value of OLVFss and T-score of femoral neck, hip and lumbar spine was
    Conclusions: A single severe grade radiological OLVF (≥ 40% height loss) or OLVFss ≤ -2.5 suggest the subject is osteoporotic, and a single collapse grade (≥ 2/3 height loss) OLVF or OLVFss ≤ -3 meets osteoporosis diagnosis criterion. The results highlight the difficulty of diagnosing osteoporotic vertebral fractures among Chinese older men.
    Language English
    Publishing date 2023-03-24
    Publishing country Netherlands
    Document type Journal Article
    ISSN 2405-5263
    ISSN (online) 2405-5263
    DOI 10.1016/j.afos.2023.03.004
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  6. Article ; Online: Influence of three different closure techniques on leakage pressures and leakage location following partial cystectomies in normal dogs

    Jason M. Haas / Daniel J. Duffy / Allison Kendall / Yi‐Jen Chang / George E. Moore

    Veterinary Medicine and Science, Vol 9, Iss 4, Pp 1513-

    2023  Volume 1520

    Abstract: Abstract Background Transitional cell carcinoma (TCC) is the most common neoplasia affecting the canine urinary bladder. Partial cystectomy, when used adjuctively with medical management, has been shown to meaningfully extend medial survival time. ... ...

    Abstract Abstract Background Transitional cell carcinoma (TCC) is the most common neoplasia affecting the canine urinary bladder. Partial cystectomy, when used adjuctively with medical management, has been shown to meaningfully extend medial survival time. Surgical stapling devices have a wide variety of uses and advantages over traditional closure methods and, to date, investigation into their use in canine partial cystectomies has not been documented. Objective To determine the influence of three closure techniques on ex vivo leakage pressures and leakage location following canine partial cystectomy. Methods Specimens were assigned to one of three closure techniques: simple continuous appositional closure with 3‐0 suture, closure with a 60 mm gastrointestinal stapler with a 3.5 mm cartridge, and placement of a Cushing suture to augment the stapled closure, with each group containing 12 specimens. Mean initial leakage pressure (ILP), maximum leakage pressure (MLP), and leakage location at the time that ILP was recorded were compared between groups. Results Oversewn stapled constructs leaked at significantly higher ILP (28.5 mmHg) than those in the sutured (17 mmHg) or stapled (22.8 mmHg) group, respectively. MLP was greater in the oversewn stapled construct group compared to other groups. Leakage was detected in 97% partial cystectomies, with leakage occurring from the needle holes in 100% of the sutured closure group, from the staple holes in 100% of the stapled only group, and from the incisional line in 83% and from bladder wall rupture in 8% of the augmented staple closure group. All closure methods withstood normal physiologic cystic pressures. Conclusions Placement of a Cushing suture to augment stapled closures improved the ability of partial cystectomies to sustain higher intravesicular pressures compared with sutured or stapled bladder closures alone. Further in vivo studies are required to determine the clinical significance of these findings and the role of stapling equipment for partial cystectomy, as well ...
    Keywords canine ; closure techniques ; leakage pressures ; partial cystectomies ; Veterinary medicine ; SF600-1100
    Subject code 630
    Language English
    Publishing date 2023-07-01T00:00:00Z
    Publisher Wiley
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  7. Article: Fine-tuning the cutpoint T-score as an epidemiological index with high specificity for osteoporosis: methodological considerations for the Chinese population.

    Wáng, Yì Xiáng J / Xiao, Ben-Heng / Su, Yi / Leung, Jason C S / Lam, Patti M S / Kwok, Timothy C Y

    Quantitative imaging in medicine and surgery

    2022  Volume 12, Issue 2, Page(s) 882–885

    Language English
    Publishing date 2022-01-19
    Publishing country China
    Document type Editorial
    ZDB-ID 2653586-5
    ISSN 2223-4306 ; 2223-4292
    ISSN (online) 2223-4306
    ISSN 2223-4292
    DOI 10.21037/qims-21-845
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  8. Article ; Online: Influence of three different closure techniques on leakage pressures and leakage location following partial cystectomies in normal dogs.

    Haas, Jason M / Duffy, Daniel J / Kendall, Allison / Chang, Yi-Jen / Moore, George E

    Veterinary medicine and science

    2023  Volume 9, Issue 4, Page(s) 1513–1520

    Abstract: Background: Transitional cell carcinoma (TCC) is the most common neoplasia affecting the canine urinary bladder. Partial cystectomy, when used adjuctively with medical management, has been shown to meaningfully extend medial survival time. Surgical ... ...

    Abstract Background: Transitional cell carcinoma (TCC) is the most common neoplasia affecting the canine urinary bladder. Partial cystectomy, when used adjuctively with medical management, has been shown to meaningfully extend medial survival time. Surgical stapling devices have a wide variety of uses and advantages over traditional closure methods and, to date, investigation into their use in canine partial cystectomies has not been documented.
    Objective: To determine the influence of three closure techniques on ex vivo leakage pressures and leakage location following canine partial cystectomy.
    Methods: Specimens were assigned to one of three closure techniques: simple continuous appositional closure with 3-0 suture, closure with a 60 mm gastrointestinal stapler with a 3.5 mm cartridge, and placement of a Cushing suture to augment the stapled closure, with each group containing 12 specimens. Mean initial leakage pressure (ILP), maximum leakage pressure (MLP), and leakage location at the time that ILP was recorded were compared between groups.
    Results: Oversewn stapled constructs leaked at significantly higher ILP (28.5 mmHg) than those in the sutured (17 mmHg) or stapled (22.8 mmHg) group, respectively. MLP was greater in the oversewn stapled construct group compared to other groups. Leakage was detected in 97% partial cystectomies, with leakage occurring from the needle holes in 100% of the sutured closure group, from the staple holes in 100% of the stapled only group, and from the incisional line in 83% and from bladder wall rupture in 8% of the augmented staple closure group. All closure methods withstood normal physiologic cystic pressures.
    Conclusions: Placement of a Cushing suture to augment stapled closures improved the ability of partial cystectomies to sustain higher intravesicular pressures compared with sutured or stapled bladder closures alone. Further in vivo studies are required to determine the clinical significance of these findings and the role of stapling equipment for partial cystectomy, as well as the clinical significance of suture penetration through the urinary bladder mucosa during closure.
    MeSH term(s) Animals ; Dogs ; Cystectomy/veterinary ; Dog Diseases/surgery ; Sutures/veterinary ; Urinary Bladder/surgery
    Language English
    Publishing date 2023-06-08
    Publishing country England
    Document type Journal Article
    ZDB-ID 2819409-3
    ISSN 2053-1095 ; 2053-1095
    ISSN (online) 2053-1095
    ISSN 2053-1095
    DOI 10.1002/vms3.1137
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  9. Article ; Online: Further evidence supports a much lower prevalence of radiographic osteoporotic vertebral fracture in Hong Kong Chinese women than in Italian Caucasian women.

    Wáng, Yì Xiáng J / Diacinti, Davide / Leung, Jason C S / Iannacone, Antonio / Kripa, Endi / Kwok, Timothy C Y / Diacinti, Daniele

    Archives of osteoporosis

    2022  Volume 17, Issue 1, Page(s) 13

    MeSH term(s) Female ; Hong Kong/epidemiology ; Humans ; Osteoporotic Fractures/diagnostic imaging ; Osteoporotic Fractures/epidemiology ; Prevalence ; Spinal Fractures/diagnostic imaging ; Spinal Fractures/epidemiology ; Spine
    Language English
    Publishing date 2022-01-06
    Publishing country England
    Document type Letter
    ZDB-ID 2253231-6
    ISSN 1862-3514 ; 1862-3522
    ISSN (online) 1862-3514
    ISSN 1862-3522
    DOI 10.1007/s11657-021-01056-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  10. Article ; Online: Closed system processing variables affect post-thaw quality characteristics of cryopreserved red cell concentrates.

    Howell, Anita / Turner, Tracey R / Hansen, Adele / Lautner, Larissa J / Yi, Qilong / Acker, Jason P

    Transfusion

    2022  Volume 62, Issue 12, Page(s) 2577–2586

    Abstract: Background: Differences in manufacturing conditions using the Haemonetics ACP 215 cell processor result in cryopreserved red cell concentrates (RCCs) of varying quality. This work studied the effect of processing method, additive solution, and storage ... ...

    Abstract Background: Differences in manufacturing conditions using the Haemonetics ACP 215 cell processor result in cryopreserved red cell concentrates (RCCs) of varying quality. This work studied the effect of processing method, additive solution, and storage duration on RCC quality to identify an optimal protocol for the manufacture of cryopreserved RCCs.
    Materials and methods: RCCs were pooled-and-split and stored for 7, 14, or 21 days before cryopreservation. Units were glycerolized with the ACP 215 using a single or double centrifugation method. After thawing, the RCCs were deglycerolized, suspended in AS-3, SAGM, ESOL, or SOLX/AS-7, and stored for 0, 3, 7, 14, or 21 days before quality testing. Quality assessments included hemoglobin content, hematocrit, hemolysis, adenosine triphosphate (ATP), supernatant potassium, and mean cell volume.
    Results: Both glycerolization methods produced RCCs that met regulatory standards for blood quality. Dual centrifugation resulted in higher hemoglobin content, fewer processing alerts, and a shorter deglycerolization time than single centrifugation processing. Units processed with AS-3 and ESOL met regulatory standards when stored for up to 21 days pre-cryopreservation and 21 days post-deglycerolization. However, ESOL demonstrated superior maintenance of ATP over RBCs in AS-3. Some RCCs suspended in SAGM and SOLX exceeded acceptable hemolysis values after 7 days of post-deglycerolization storage regardless of pre-processing storage length.
    Conclusions: When manufacturing cryopreserved RCCs using the ACP 215, dual centrifugation processing with AS-3 or ESOL additive solutions is preferred, with storage periods of up to 21 days both pre-processing and post-deglycerolization.
    MeSH term(s) Humans ; Hemoglobins
    Chemical Substances Hemoglobins
    Language English
    Publishing date 2022-10-05
    Publishing country United States
    Document type Journal Article
    ZDB-ID 208417-x
    ISSN 1537-2995 ; 0041-1132
    ISSN (online) 1537-2995
    ISSN 0041-1132
    DOI 10.1111/trf.17138
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 284: 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)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top