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  1. Article ; Online: Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population.

    Goljan, Ewa / Abouelhoda, Mohammed / Tahir, Asma / ElKalioby, Mohamed / Meyer, Brian / Monies, Dorota

    Human genomics

    2024  Volume 18, Issue 1, Page(s) 30

    Abstract: Background: SLCO1B1 plays an important role in mediating hepatic clearance of many different drugs including statins, angiotensin-converting enzyme inhibitors, chemotherapeutic agents and antibiotics. Several variants in SLCO1B1 have been shown to have ... ...

    Abstract Background: SLCO1B1 plays an important role in mediating hepatic clearance of many different drugs including statins, angiotensin-converting enzyme inhibitors, chemotherapeutic agents and antibiotics. Several variants in SLCO1B1 have been shown to have a clinically significant impact, in relation to efficacy of these medications. This study provides a comprehensive overview of SLCO1B1 variation in Saudi individuals, one of the largest Arab populations in the Middle East.
    Methods: The dataset of 11,889 (9,961 exomes and 1,928 pharmacogenetic gene panel) Saudi nationals, was used to determine the presence and frequencies of SLCO1B1 variants, as described by the Clinical Pharmacogenetic Implementation Consortium (CPIC).
    Results: We identified 141 previously described SNPs, of which rs2306283 (50%) and rs4149056 (28%), were the most common. In addition, we observed six alleles [*15 (24.7%) followed by *20 (8.04%), *14 (5.86%), *5 (3.84%), *31 (0.21%) and *9 (0.03%)] predicted to be clinically actionable. Allele diplotype to phenotype conversion revealed 41 OATP1B1 diplotypes. We estimated the burden of rare, and novel predicted deleterious variants, resulting from 17 such alterations.
    Conclusions: The data we present, from one of the largest Arab cohorts studied to date, provides the most comprehensive overview of SLCO1B1 variants, and the subsequent OATP1B1 activity of this ethnic group, which thus far remains relatively underrepresented in available international genomic databases. We believe that the presented data provides a basis for further clinical investigations and the application of personalized statin drug therapy guidance in Arabs.
    MeSH term(s) Humans ; Pharmacogenetics ; High-Throughput Nucleotide Sequencing ; Saudi Arabia ; Liver-Specific Organic Anion Transporter 1/genetics ; Polymorphism, Single Nucleotide/genetics
    Chemical Substances Liver-Specific Organic Anion Transporter 1 ; SLCO1B1 protein, human
    Language English
    Publishing date 2024-03-25
    Publishing country England
    Document type Review ; Journal Article
    ZDB-ID 2147618-4
    ISSN 1479-7364 ; 1479-7364
    ISSN (online) 1479-7364
    ISSN 1479-7364
    DOI 10.1186/s40246-024-00594-9
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  2. Article ; Online: Molecular classification of blood and bleeding disorder genes.

    Baz, Batoul / Abouelhoda, Mohamed / Owaidah, Tarek / Dasouki, Majed / Monies, Dorota / Al Tassan, Nada

    NPJ genomic medicine

    2021  Volume 6, Issue 1, Page(s) 62

    Abstract: The advances and development of sequencing techniques and data analysis resulted in a pool of informative genetic data, that can be analyzed for informing decision making in designing national screening, prevention programs, and molecular diagnostic ... ...

    Abstract The advances and development of sequencing techniques and data analysis resulted in a pool of informative genetic data, that can be analyzed for informing decision making in designing national screening, prevention programs, and molecular diagnostic tests. The accumulation of molecular data from different populations widen the scope of utilization of this information. Bleeding disorders are a heterogeneous group of clinically overlapping disorders. We analyzed the targeted sequencing data from ~1285 Saudi individuals in 17 blood and bleeding disorders genes, to determine the frequency of mutations and variants. We used a replication set of ~5000 local exomes to validate pathogenicity and determine allele frequencies. We identified a total of 821 variants, of these 98 were listed in HGMD as disease related variants and 140 were novel variants. The majority of variants were present in VWF, followed by F5, F8, and G6PD genes, while FGG, FGB, and HBA1 had the lowest number of variants. Our analysis generated a priority list of genes, mutations and novel variants. This data will have an impact on informing decisions for screening and prevention programs and in management of vulnerable patients admitted to emergency, surgery, or interventions with bleeding side effects.
    Language English
    Publishing date 2021-07-16
    Publishing country England
    Document type Journal Article
    ZDB-ID 2813848-X
    ISSN 2056-7944 ; 2056-7944
    ISSN (online) 2056-7944
    ISSN 2056-7944
    DOI 10.1038/s41525-021-00228-2
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  3. Article ; Online: Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.

    Goljan, Ewa / Abouelhoda, Mohammed / ElKalioby, Mohamed M / Jabaan, Amjad / Alghithi, Nada / Meyer, Brian F / Monies, Dorota

    PloS one

    2022  Volume 17, Issue 1, Page(s) e0263137

    Abstract: It is well documented that drug responses are related to Absorption, Distribution, Metabolism, and Excretion (ADME) characteristics of individual patients. Several studies have identified genetic variability in pharmacogenes, that are either directly ... ...

    Abstract It is well documented that drug responses are related to Absorption, Distribution, Metabolism, and Excretion (ADME) characteristics of individual patients. Several studies have identified genetic variability in pharmacogenes, that are either directly responsible for or are associated with ADME, giving rise to individualized treatments. Our objective was to provide a comprehensive overview of pharmacogenetic variation in the Saudi population. We mined next generation sequencing (NGS) data from 11,889 unrelated Saudi nationals, to determine the presence and frequencies of known functional SNP variants in 8 clinically relevant pharmacogenes (CYP2C9, CYP2C19, CYP3A5, CYP4F2, VKORC1, DPYD, TPMT and NUDT15), recommended by the Clinical Pharmacogenetics Implementation Consortium (CPIC), and collectively identified 82 such star alleles. Functionally significant pharmacogenetic variants were prevalent especially in CYP genes (excluding CYP3A5), with 10-44.4% of variants predicted to be inactive or to have decreased activity. In CYP3A5, inactive alleles (87.5%) were the most common. Only 1.8%, 0.7% and 0.7% of NUDT15, TPMT and DPYD variants respectively, were predicted to affect gene activity. In contrast, VKORC1 was found functionally, to be highly polymorphic with 53.7% of Saudi individuals harboring variants predicted to result in decreased activity and 31.3% having variants leading to increased metabolic activity. Furthermore, among the 8 pharmacogenes studied, we detected six rare variants with an aggregated frequency of 1.1%, that among several other ethnicities, were uniquely found in Saudi population. Similarly, within our cohort, the 8 pharmacogenes yielded forty-six novel variants predicted to be deleterious. Based upon our findings, 99.2% of individuals from the Saudi population carry at least one actionable pharmacogenetic variant.
    MeSH term(s) Female ; Gene Frequency ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Pharmacogenetics ; Pharmacogenomic Testing ; Pharmacogenomic Variants ; Polymorphism, Single Nucleotide ; Saudi Arabia
    Language English
    Publishing date 2022-01-28
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2267670-3
    ISSN 1932-6203 ; 1932-6203
    ISSN (online) 1932-6203
    ISSN 1932-6203
    DOI 10.1371/journal.pone.0263137
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  4. Article ; Online: Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders.

    Bohlega, Saeed / Abusrair, Ali H / Al-Qahtani, Zainah / Guzmán-Vega, Francisco J / Ramakrishnan, Reshmi / Aldosari, Haya / Aldakheel, Amaal / Al-Qahtani, Salma / Monies, Dorota / Arold, Stefan T

    Parkinsonism & related disorders

    2023  Volume 108, Page(s) 105323

    Abstract: Background: Phosphodiesterase 10A (PDE10A) controls body movements by regulating cyclic adenosine monophosphate signaling in the basal ganglia. Two classes of PDE10A variants are reported with distinctive genotype-phenotype correlation. The autosomal ... ...

    Abstract Background: Phosphodiesterase 10A (PDE10A) controls body movements by regulating cyclic adenosine monophosphate signaling in the basal ganglia. Two classes of PDE10A variants are reported with distinctive genotype-phenotype correlation. The autosomal recessive mutations in the GAF-A and catalytic domains are associated with compromised membrane localization, and manifest with infantile onset chorea, developmental, and cognition delay with normal brain MRI. Conversely, autosomal dominant mutations in the GAF-B domain cause protein aggregates which results in childhood onset chorea in the context of normal cognition and development, with striatal lesions.
    Methods: Phenotypic characteristics of affected individuals with PDE10A mutations belonging to a single family were recorded. In addition, Sanger sequencing and in silico analysis were used to identify the mutations. Homozygosity mapping was applied together with whole exome sequencing.
    Results: Four individuals from a consanguineous family affected with PDE10A mutations were observed for up to 40 years. Although these individuals displayed a clinical phenotype attributed to the recessive GAF-A mutations, they revealed a bi-allelic GAF-B mutation (c.883G > A:p. D295 N; p.Asp295Asn) that was segregated with all affected individuals. In addition to chorea, we observed peculiar foot deformities and pronounced social phobia, with normal brain MRI. In silico structural analysis suggested that the GAF-B mutation blocked allosteric PDE10A activation. The resulting lack of PDE10A activity likely phenocopies GAF-A mutations, and this is achieved through a distinct mechanism.
    Conclusions: Collectively, our findings demonstrate the association of recessive and dominant phenotypes of known variants, and further expands the genotype-phenotype landscape of PDE10A-associated movement disorders.
    MeSH term(s) Humans ; Chorea/genetics ; Phosphoric Diester Hydrolases/genetics ; Movement Disorders ; Genotype ; Phenotype
    Chemical Substances Phosphoric Diester Hydrolases (EC 3.1.4.-) ; PDE10A protein, human (EC 3.1.4.-)
    Language English
    Publishing date 2023-02-13
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2023.105323
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    Zs.A 4553: Show issues Location:
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  5. Article ; Online: PLACK syndrome is potentially treatable with intralipids.

    Sawan, Zinab A / Almehaidib, Ali / Binamer, Yousef / Monies, Dorota / Alsaleem, Khalid A / Aldekhail, Wajeeh / Alkuraya, Fowzan S / Abanemai, Mohammed

    Clinical genetics

    2021  Volume 99, Issue 4, Page(s) 572–576

    Abstract: We describe an 11-year-old girl with PLACK Syndrome (peeling skin, leukonychia, acral punctate keratosis, cheilitis, and knuckle pads), who was found to have a novel homozygous variant in CAST, the pathogenicity of which was confirmed using blood-derived ...

    Abstract We describe an 11-year-old girl with PLACK Syndrome (peeling skin, leukonychia, acral punctate keratosis, cheilitis, and knuckle pads), who was found to have a novel homozygous variant in CAST, the pathogenicity of which was confirmed using blood-derived RNA. There is no established treatment for PLACK syndrome. However, we demonstrate for the first time that this condition is associated with low levels of vitamin A and essential fatty acids, which prompted us to consider a potential treatment strategy. Indeed, we initiated this patient on intravenous lipid infusion (Vitalipid®; an emulsion of fat-soluble vitamins and lipofundin-MCT/LCT 20%) and the response was dramatic. Following the fourth monthly course of treatment, pruritis disappeared and the skin lesions showed remarkable objective improvement. PLACK syndrome is a very rare genodermatosis and only six families have been described to date with pathogenic CAST variants. This is the first report of an objective response to a therapeutic agent, which suggests that PLACK is a potentially treatable condition. The remarkable response we report and the relative safety of the intervention should prompt healthcare providers who care for PLACK syndrome patients to explore this as a potential treatment strategy in future studies.
    MeSH term(s) Blister/etiology ; Calcium-Binding Proteins/genetics ; Cheilitis/drug therapy ; Cheilitis/genetics ; Child ; Consanguinity ; Dermatitis, Exfoliative/drug therapy ; Dermatitis, Exfoliative/genetics ; Emulsions/administration & dosage ; Emulsions/therapeutic use ; Female ; Humans ; Hypopigmentation/drug therapy ; Hypopigmentation/genetics ; Infusions, Intravenous ; Keratosis/drug therapy ; Keratosis/genetics ; Nail Diseases/congenital ; Nail Diseases/drug therapy ; Nail Diseases/genetics ; Pedigree ; Phospholipids/administration & dosage ; Phospholipids/therapeutic use ; Pruritus/drug therapy ; Pruritus/genetics ; Remission Induction ; Skin Diseases, Genetic/drug therapy ; Skin Diseases, Genetic/genetics ; Soybean Oil/administration & dosage ; Soybean Oil/therapeutic use ; Syndrome ; Treatment Outcome
    Chemical Substances CAST protein, human ; Calcium-Binding Proteins ; Emulsions ; Phospholipids ; soybean oil, phospholipid emulsion ; Soybean Oil (8001-22-7)
    Language English
    Publishing date 2021-01-20
    Publishing country Denmark
    Document type Case Reports ; Journal Article
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.13919
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  6. Article ; Online: Implications of mosaicism in variant interpretation: A case of a de novo homozygous NF1 variant.

    Alghamdi, Malak / Monies, Dorota / Alsohime, Fahad / Temsah, Hani / Almodaihsh, Fahad / Aldawasri, Mana / Alsultan, Abdulrahman / Alkuraya, Fowzan S

    European journal of medical genetics

    2021  Volume 64, Issue 7, Page(s) 104236

    Abstract: Neurofibromatosis type 1 is a common multisystem autosomal dominant syndrome caused by pathogenic heterozygous variants in the neurofibromin gene (NF1). It is associated with a substantially increased cancer risk. Mosaicism for NF1 has been clinically ... ...

    Abstract Neurofibromatosis type 1 is a common multisystem autosomal dominant syndrome caused by pathogenic heterozygous variants in the neurofibromin gene (NF1). It is associated with a substantially increased cancer risk. Mosaicism for NF1 has been clinically well-established for "second hit" variants in skin lesions and tumor tissues. Here, we report on a 3-month-old boy with multiple café au lait macules (CAMs) and juvenile myelomonocytic leukemia (JMML) who was found to carry a previously established pathogenic NF1 variant (c.586+5G>A), as revealed by whole-exome sequencing. Surprisingly, however, this variant was detected in the homozygous state in the patient and was absent in the parents and siblings. Deep sequencing of this variant using blood, buccal swabs and skin samples was performed. As expected for an NF1 gene mutation promoting JMML, the variant was detected in 90.6% of the blood DNA reads, in sharp contrast to the mere 5% and 0.74% of reads in the saliva- and skin fibroblast-derived DNA, respectively. Our analysis, therefore, confirmed postzygotic origin of the variant followed by a mitotic event resulting in its homozygosity, although we could not differentiate between the possibilities of a gene conversion and mitotic crossover. Apparently de novo homozygous variants should trigger a careful investigation into mosaicism to achieve accurate interpretation.
    MeSH term(s) Bone Marrow Cells/metabolism ; Cafe-au-Lait Spots/genetics ; Cafe-au-Lait Spots/pathology ; Cells, Cultured ; Crossing Over, Genetic ; Fibroblasts/metabolism ; Gene Conversion ; Genetic Testing/methods ; Homozygote ; Humans ; Infant ; Leukemia, Myelomonocytic, Juvenile/genetics ; Leukemia, Myelomonocytic, Juvenile/pathology ; Male ; Mitosis ; Mosaicism ; Mutation ; Neurofibromin 1/genetics ; Pedigree
    Chemical Substances NF1 protein, human ; Neurofibromin 1
    Language English
    Publishing date 2021-05-20
    Publishing country Netherlands
    Document type Case Reports ; Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2021.104236
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  7. Article ; Online: Familial Clustering of Juvenile Psoriatic Arthritis Associated with a Hemizygous FOXP3 Mutation.

    Alzyoud, Raed / Alansari, Shahad / Maaitah, Heba / AlDossari, Haya / Monies, Dorota / Al-Mayouf, Sulaiman M

    Current rheumatology reports

    2021  Volume 23, Issue 8, Page(s) 64

    Abstract: Purpose of review: We describe the clinical and genetic findings in four patients from a single family who presented with refractory psoriatic arthritis and were hemizygous in the forkhead box protein 3 (FOXP3) gene (c.1222G>A).: Recent findings: We ... ...

    Abstract Purpose of review: We describe the clinical and genetic findings in four patients from a single family who presented with refractory psoriatic arthritis and were hemizygous in the forkhead box protein 3 (FOXP3) gene (c.1222G>A).
    Recent findings: We report four siblings with hemizygous mutation in the FOXP3 gene (c.1222G>A) who presented with type 1 diabetes mellitus and psoriatic arthritis poorly responsive to treatment. Our findings expand the phenotype spectrum of FOXP3 mutations. Immune dysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by mutations in FOXP3 gene, which lead to early onset of constellation of autoimmune manifestations. This report highlights the influence of immune dysregulation in juvenile arthritis.
    MeSH term(s) Arthritis, Juvenile/genetics ; Cluster Analysis ; Forkhead Transcription Factors/genetics ; Genetic Diseases, X-Linked/genetics ; Humans ; Mutation ; T-Lymphocytes, Regulatory
    Chemical Substances FOXP3 protein, human ; Forkhead Transcription Factors
    Language English
    Publishing date 2021-07-03
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2057357-1
    ISSN 1534-6307 ; 1523-3774
    ISSN (online) 1534-6307
    ISSN 1523-3774
    DOI 10.1007/s11926-021-01026-6
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    Zs.A 5531: Show issues Location:
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  8. Article ; Online: Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.

    Abouelhoda, Mohamed / Mohty, Dania / Alayary, Islam / Meyer, Brian F / Arold, Stefan T / Fadel, Bahaa M / Monies, Dorota

    Human genomics

    2021  Volume 15, Issue 1, Page(s) 52

    Abstract: Background: Familial transthyretin (TTR) amyloidosis (ATTR) is an autosomal dominant disease with significant phenotypic heterogeneity. Its prevalence in Saudi Arabia has not previously been investigated. An existing exome variant database of Saudi ... ...

    Abstract Background: Familial transthyretin (TTR) amyloidosis (ATTR) is an autosomal dominant disease with significant phenotypic heterogeneity. Its prevalence in Saudi Arabia has not previously been investigated. An existing exome variant database of Saudi individuals, sequenced to globally investigate rare diseases in the population, was mined for TTR variants and filtered for missense mutations resulting in single amino acid changes. A total of 13,906 Saudi exomes from unrelated individuals were analyzed blindly.
    Results: Three TTR variants known to be associated with ATTR amyloidosis were identified. Additionally, three novel TTR mutations were identified. Structural analysis of the three novel variants suggests that at least two could be amyloidogenic. The most common variant associated with amyloidosis was p.Val142Ile (allele frequency 0.001). Further investigation of these variants and their translation to clinical practice may help to diagnose, monitor, and manage patients with ATTR amyloidosis.
    Conclusion: Multiple TTR variants potentially associated with systemic ATTR amyloidosis were identified in the Saudi population. Early diagnosis and intervention, facilitated by familial genetic testing of patients with ATTR amyloidosis, may benefit in the management of this disease. Early diagnosis could be enhanced through inclusion of ATTR variants in existing population-based screening programs.
    MeSH term(s) Adolescent ; Adult ; Aged ; Amyloid Neuropathies, Familial/epidemiology ; Amyloid Neuropathies, Familial/genetics ; Amyloid Neuropathies, Familial/pathology ; Child ; Data Mining ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genetic Testing ; Genetic Variation/genetics ; Humans ; Male ; Middle Aged ; Mutation, Missense/genetics ; Prealbumin/genetics ; Saudi Arabia/epidemiology ; Young Adult
    Chemical Substances Prealbumin ; TTR protein, human
    Language English
    Publishing date 2021-08-11
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2147618-4
    ISSN 1479-7364 ; 1479-7364
    ISSN (online) 1479-7364
    ISSN 1479-7364
    DOI 10.1186/s40246-021-00351-2
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  9. Article ; Online: SARS-CoV-2-Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency Disease.

    Al-Saud, Bandar / Hazzazi, Khaled M / Mohammed, Reem / Al Najjar, Alaa / Al Hazmi, Tariq / Monies, Dorota / Alkuraya, Fowzan S

    Journal of clinical immunology

    2021  Volume 41, Issue 7, Page(s) 1507–1510

    MeSH term(s) COVID-19/complications ; COVID-19/diagnosis ; Humans ; Infant ; Male ; Respiratory Distress Syndrome/complications ; Respiratory Distress Syndrome/diagnosis ; SARS-CoV-2/physiology ; Severe Combined Immunodeficiency/complications ; Severe Combined Immunodeficiency/diagnosis
    Language English
    Publishing date 2021-06-25
    Publishing country Netherlands
    Document type Case Reports ; Letter
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-021-01063-x
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  10. Article ; Online: Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification.

    Monies, Dorota / Vågbø, Cathrine Broberg / Al-Owain, Mohammad / Alhomaidi, Suzan / Alkuraya, Fowzan S

    American journal of human genetics

    2019  Volume 104, Issue 6, Page(s) 1202–1209

    Abstract: The wobble hypothesis was proposed to explain the presence of fewer tRNAs than possible codons. The wobble nucleoside position in the anticodon stem-loop undergoes a number of modifications that help maintain the efficiency and fidelity of translation. ... ...

    Abstract The wobble hypothesis was proposed to explain the presence of fewer tRNAs than possible codons. The wobble nucleoside position in the anticodon stem-loop undergoes a number of modifications that help maintain the efficiency and fidelity of translation. AlkB homolog 8 (ALKBH8) is an atypical member of the highly conserved AlkB family of dioxygenases and is involved in the formation of mcm5s2U, (S)-mchm5U, (R)-mchm5U, mcm5U, and mcm5Um at the anticodon wobble uridines of specific tRNAs. In two multiplex consanguineous families, we identified two homozygous truncating ALKBH8 mutations causing intellectual disability. Analysis of tRNA derived from affected individuals showed the complete absence of these modifications, consistent with the presumptive loss of function of the variants. Our results highlight the sensitivity of the brain to impaired wobble modification and expand the list of intellectual-disability syndromes caused by mutations in genes related to tRNA modification.
    MeSH term(s) Adolescent ; Adult ; AlkB Homolog 8, tRNA Methyltransferase/genetics ; Child ; Child, Preschool ; Codon/genetics ; Codon/metabolism ; Female ; Genes, Recessive/genetics ; Humans ; Intellectual Disability/etiology ; Intellectual Disability/pathology ; Male ; Mutation ; RNA, Transfer/genetics ; RNA, Transfer/metabolism ; Uridine/chemistry ; Uridine/genetics ; Uridine/metabolism ; Young Adult ; tRNA Methyltransferases/metabolism
    Chemical Substances Codon ; RNA, Transfer (9014-25-9) ; ALKBH8 protein, human (EC 1.14.11.-) ; AlkB Homolog 8, tRNA Methyltransferase (EC 1.14.11.-) ; tRNA Methyltransferases (EC 2.1.1.-) ; Uridine (WHI7HQ7H85)
    Language English
    Publishing date 2019-05-09
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2019.03.026
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