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  1. Article: Reciprocal Translocation T(Y;16) in a Male Patient With Non-obstructive Azoospermia: A Case Report and Literature Review.

    Alharbi, Yasser H / Alqurashi, Thamer M / Azher, Zohor A / Baazeem, Abdulazziz S

    Cureus

    2022  Volume 14, Issue 8, Page(s) e28365

    Abstract: Translocation of sex/autosome chromosomes is uncommon, but they have a stronger impact on fertility than autosome/autosome translocation. ...

    Abstract Translocation of sex/autosome chromosomes is uncommon, but they have a stronger impact on fertility than autosome/autosome translocation.
    Language English
    Publishing date 2022-08-24
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.28365
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Sequence Variants in PSMB8/PSMB9 Immunoproteasome Genes and Risk of Urothelial Bladder Carcinoma.

    Elhawary, Nasser A / Ekram, Samar N / Abumansour, Iman S / Azher, Zohor A / AlJahdali, Imad A / Alyamani, Najiah M / Naffadi, Hind M / Sindi, Ikhlas A / Baazeem, Abdulaziz / Nassir, Anmar M / Mufti, Ahmad H

    Cureus

    2023  Volume 15, Issue 3, Page(s) e36293

    Abstract: Background: The : Methods: Samples of genomic DNA were taken from buccal cells of 111 patients with UBC and 78 healthy controls. TaqMan Real-Time PCR was used to determine genotype distributions and allele frequencies for the : Results: The : ... ...

    Abstract Background: The 
    Methods: Samples of genomic DNA were taken from buccal cells of 111 patients with UBC and 78 healthy controls. TaqMan Real-Time PCR was used to determine genotype distributions and allele frequencies for the 
    Results: The 
    Conclusion: These results suggest a potential role for
    Language English
    Publishing date 2023-03-17
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.36293
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    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: Phenotypic variability to medication management: an update on fragile X syndrome.

    Elhawary, Nasser A / AlJahdali, Imad A / Abumansour, Iman S / Azher, Zohor A / Falemban, Alaa H / Madani, Wefaq M / Alosaimi, Wafaa / Alghamdi, Ghydda / Sindi, Ikhlas A

    Human genomics

    2023  Volume 17, Issue 1, Page(s) 60

    Abstract: This review discusses the discovery, epidemiology, pathophysiology, genetic etiology, molecular diagnosis, and medication-based management of fragile X syndrome (FXS). It also highlights the syndrome's variable expressivity and common comorbid and ... ...

    Abstract This review discusses the discovery, epidemiology, pathophysiology, genetic etiology, molecular diagnosis, and medication-based management of fragile X syndrome (FXS). It also highlights the syndrome's variable expressivity and common comorbid and overlapping conditions. FXS is an X-linked dominant disorder associated with a wide spectrum of clinical features, including but not limited to intellectual disability, autism spectrum disorder, language deficits, macroorchidism, seizures, and anxiety. Its prevalence in the general population is approximately 1 in 5000-7000 men and 1 in 4000-6000 women worldwide. FXS is associated with the fragile X messenger ribonucleoprotein 1 (FMR1) gene located at locus Xq27.3 and encodes the fragile X messenger ribonucleoprotein (FMRP). Most individuals with FXS have an FMR1 allele with > 200 CGG repeats (full mutation) and hypermethylation of the CpG island proximal to the repeats, which silences the gene's promoter. Some individuals have mosaicism in the size of the CGG repeats or in hypermethylation of the CpG island, both produce some FMRP and give rise to milder cognitive and behavioral deficits than in non-mosaic individuals with FXS. As in several monogenic disorders, modifier genes influence the penetrance of FMR1 mutations and FXS's variable expressivity by regulating the pathophysiological mechanisms related to the syndrome's behavioral features. Although there is no cure for FXS, prenatal molecular diagnostic testing is recommended to facilitate early diagnosis. Pharmacologic agents can reduce some behavioral features of FXS, and researchers are investigating whether gene editing can be used to demethylate the FMR1 promoter region to improve patient outcomes. Moreover, clustered regularly interspaced palindromic repeats (CRISPR)/Cas9 and developed nuclease defective Cas9 (dCas9) strategies have promised options of genome editing in gain-of-function mutations to rewrite new genetic information into a specified DNA site, are also being studied.
    MeSH term(s) Male ; Humans ; Female ; Fragile X Syndrome/drug therapy ; Fragile X Syndrome/epidemiology ; Fragile X Syndrome/genetics ; Autism Spectrum Disorder/genetics ; DNA Methylation/genetics ; Mosaicism ; Biological Variation, Population ; Fragile X Mental Retardation Protein/genetics ; Fragile X Mental Retardation Protein/metabolism
    Chemical Substances FMR1 protein, human ; Fragile X Mental Retardation Protein (139135-51-6)
    Language English
    Publishing date 2023-07-07
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2147618-4
    ISSN 1479-7364 ; 1479-7364
    ISSN (online) 1479-7364
    ISSN 1479-7364
    DOI 10.1186/s40246-023-00507-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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