LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 7 of total 7

Search options

  1. Article ; Online: When Simple Phlebotomy Is the Cure: Porphyria Cutanea Tarda.

    Pavlidou, Despina Christina / Van Winckel, Geraldine / Tran, Christel

    Journal of general internal medicine

    2022  Volume 37, Issue 13, Page(s) 3489–3490

    MeSH term(s) Humans ; Phlebotomy ; Porphyria Cutanea Tarda/diagnosis ; Porphyria Cutanea Tarda/therapy
    Language English
    Publishing date 2022-07-25
    Publishing country United States
    Document type Journal Article
    ZDB-ID 639008-0
    ISSN 1525-1497 ; 0884-8734
    ISSN (online) 1525-1497
    ISSN 0884-8734
    DOI 10.1007/s11606-022-07740-w
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 2205: 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.

  2. Article ; Online: Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant.

    Ricciardiello, Roberto / Forleo, Giulia / Cipolla, Lina / van Winckel, Geraldine / Marconi, Caterina / Nouspikel, Thierry / Halazonetis, Thanos D / Zgheib, Omar / Sabbioneda, Simone

    Scientific reports

    2024  Volume 14, Issue 1, Page(s) 1117

    Abstract: DNA polymerase eta (Polη) is the only translesion synthesis polymerase capable of error-free bypass of UV-induced cyclobutane pyrimidine dimers. A deficiency in Polη function is associated with the human disease Xeroderma pigmentosum variant (XPV). We ... ...

    Abstract DNA polymerase eta (Polη) is the only translesion synthesis polymerase capable of error-free bypass of UV-induced cyclobutane pyrimidine dimers. A deficiency in Polη function is associated with the human disease Xeroderma pigmentosum variant (XPV). We hereby report the case of a 60-year-old woman known for XPV and carrying a Polη Thr191Pro variant in homozygosity. We further characterize the variant in vitro and in vivo, providing molecular evidence that the substitution abrogates polymerase activity and results in UV sensitivity through deficient damage bypass. This is the first functional molecular characterization of a missense variant of Polη, whose reported pathogenic variants have thus far been loss of function truncation or frameshift mutations. Our work allows the upgrading of Polη Thr191Pro from 'variant of uncertain significance' to 'likely pathogenic mutant', bearing direct impact on molecular diagnosis and genetic counseling. Furthermore, we have established a robust experimental approach that will allow a precise molecular analysis of further missense mutations possibly linked to XPV. Finally, it provides insight into critical Polη residues that may be targeted to develop small molecule inhibitors for cancer therapeutics.
    MeSH term(s) Humans ; Middle Aged ; DNA Damage ; Mutation, Missense ; Proline/genetics ; Pyrimidine Dimers ; Ultraviolet Rays ; Xeroderma Pigmentosum/genetics ; Xeroderma Pigmentosum/pathology ; Female
    Chemical Substances Proline (9DLQ4CIU6V) ; Pyrimidine Dimers
    Language English
    Publishing date 2024-01-11
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 2615211-3
    ISSN 2045-2322 ; 2045-2322
    ISSN (online) 2045-2322
    ISSN 2045-2322
    DOI 10.1038/s41598-023-51120-1
    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: Biotinidase deficiency: What have we learned in forty years?

    Tankeu, Aurel T / Van Winckel, Geraldine / Elmers, Jolanda / Jaccard, Evrim / Superti-Furga, Andrea / Wolf, Barry / Tran, Christel

    Molecular genetics and metabolism

    2023  Volume 138, Issue 4, Page(s) 107560

    Abstract: Background: Biotinidase deficiency (BD) is an autosomal recessively inherited disorder that was first described in 1982. Forty years after its first description, we compiled available clinical data on BD with the aim of generating a more comprehensive ... ...

    Abstract Background: Biotinidase deficiency (BD) is an autosomal recessively inherited disorder that was first described in 1982. Forty years after its first description, we compiled available clinical data on BD with the aim of generating a more comprehensive picture of this condition.
    Methods: A systematic search strategy was performed in relevant databases without limits for publication date or languages. We screened 3966 records and included 144 articles reporting individuals with BD and their clinical presentation as well as the outcomes, when available.
    Results: This study included 1113 individuals with BD. More than half (51.5%) of these individuals were diagnosed by newborn screening, 43.3% in presence of clinical symptoms and 5.2% due to family screening. We grouped symptomatic individuals into four main clinical presentations: neonatal-onset (<1 month; 7.9%), early childhood-onset (<2 years; 59.2%), juvenile-onset (2-16 years; 25.1%) and adult-onset (>16 years; 7.7%). BD affected five main organ systems: nervous system (67.2%), skin (53.7%), eye (34.4%), auditory (26.9%) and respiratory system (17.8%). Involvement was mainly multisystemic (82.2%) of individuals, whereas isolated system presentation was seen in only 17.2% of individuals. When reported, metabolic acidosis was present in 42.4% of symptomatic individuals and characteristic abnormal organic acid metabolites were found in 57.1%. Biotin treatment led to clinical stability or improvement in 89.2% of individuals. 1.6% of reported individuals with BD died due to non-availability of treatment or late diagnosis.
    Conclusion: Newborn screening has had a major positive impact on the outcome of many individuals with BD. However, undiagnosed and non-treated BD remains a health concern. Given the risk of mortality or complications associated with late or missed diagnosis if newborn screening is not available, a trial of biotin should be considered in undiagnosed infants and adults exhibiting suspected clinical signs. Enzymatic activity and/or analysis of genetic variants can readily confirm the diagnosis of BD.
    MeSH term(s) Infant ; Infant, Newborn ; Adult ; Child, Preschool ; Humans ; Biotinidase Deficiency/diagnosis ; Biotinidase Deficiency/genetics ; Biotin/therapeutic use ; Biotinidase/genetics ; Biotinidase/metabolism ; Neonatal Screening ; Databases, Factual
    Chemical Substances Biotin (6SO6U10H04) ; Biotinidase (EC 3.5.1.12)
    Language English
    Publishing date 2023-03-24
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1418518-0
    ISSN 1096-7206 ; 1096-7192
    ISSN (online) 1096-7206
    ISSN 1096-7192
    DOI 10.1016/j.ymgme.2023.107560
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 617: 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.

  4. Article: Classical homocystinuria, is it safe to exercise?

    Tankeu, Aurel T / Van Winckel, Geraldine / Campos-Xavier, Belinda / Braissant, Olivier / Pedro, Rosette / Superti-Furga, Andrea / Amati, Francesca / Tran, Christel

    Molecular genetics and metabolism reports

    2021  Volume 27, Page(s) 100746

    Abstract: Background Cystationine β-synthase (CBS) deficiency is a genetic disorder characterized by severe hyperhomocysteinemia and thrombotic complications. In healthy individuals, physical exercise may result in a transient increase in plasma total homocysteine ...

    Abstract Background Cystationine β-synthase (CBS) deficiency is a genetic disorder characterized by severe hyperhomocysteinemia and thrombotic complications. In healthy individuals, physical exercise may result in a transient increase in plasma total homocysteine (tHcy) raising the possibility that exercise might be detrimental in CBS deficiency. Our main objective was to determine plasma tHcy kinetics in response to physical exercise in homocystinuria patients. Methods Six adult patients (2 males, 4 females) with homocystinuria and 6 age- and gender-matched controls completed a 30-min aerobic exercise of moderate-intensity with fixed power output (50 W for women and 100 W for men). Blood samples were drawn before, immediately, 180 min and 24 h after exercise. tHcy levels were determined by standard procedures; substrate oxidation and energy expenditure were measured using indirect calorimetry. Results Acute exercise was well tolerated and safe in patients and controls. During the exercise bout, heart rate and energy expenditure increased equally in both groups. tHcy levels were higher in patients compared to controls at all time points (
    Language English
    Publishing date 2021-03-26
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2821908-9
    ISSN 2214-4269
    ISSN 2214-4269
    DOI 10.1016/j.ymgmr.2021.100746
    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.

  5. Article: Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy.

    Van Winckel, Géraldine / Ballhausen, Diana / Wolf, Barry / Procter, Melinda / Mao, Rong / Burda, Patricie / Strambo, Davide / Kuntzer, Thierry / Tran, Christel

    Frontiers in neurology

    2020  Volume 11, Page(s) 516799

    Abstract: Biotinidase deficiency is an autosomal recessive disorder in which affected individuals are unable to recycle biotin. Untreated, children usually exhibit hypotonia, seizures, ataxia, developmental delay, and/or hearing loss. Individuals diagnosed by ... ...

    Abstract Biotinidase deficiency is an autosomal recessive disorder in which affected individuals are unable to recycle biotin. Untreated, children usually exhibit hypotonia, seizures, ataxia, developmental delay, and/or hearing loss. Individuals diagnosed by newborn screening have an excellent prognosis with life-long biotin supplementation. We report a young adult diagnosed with profound biotinidase deficiency by newborn screening who was asymptomatic while on therapy. At 18 years of age, 6 months after voluntarily discontinuation of biotin, he developed a progressive distal muscle weakness. Molecular analysis of the
    Language English
    Publishing date 2020-10-26
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2020.516799
    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.

  6. Article ; Online: Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.

    El Mouatani, Ahmed / Van Winckel, Géraldine / Zaafrane-Khachnaoui, Khaoula / Whalen, Sandra / Achaiaa, Amale / Kaltenbach, Sophie / Superti-Furga, Andrea / Vekemans, Michel / Fodstad, Heidi / Giuliano, Fabienne / Attie-Bitach, Tania

    American journal of medical genetics. Part A

    2021  Volume 185, Issue 12, Page(s) 3831–3837

    Abstract: Polydactyly is a hallmark of GLI3 pathogenic variants, with Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome being the two main associated clinical presentations. Homozygous GLI3 variants are rare instances in the literature, and ... ...

    Abstract Polydactyly is a hallmark of GLI3 pathogenic variants, with Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome being the two main associated clinical presentations. Homozygous GLI3 variants are rare instances in the literature, and mendelian dominance is the accepted framework for GLI3-related diseases. Herein, we report three unrelated probands, presenting with polydactyly, and homozygous variants in the GLI3 gene. First, a 10-year-old girl, whose parents were first-degree cousins, presented with bilateral postaxial polydactyly of the hands, developmental delay and multiple malformations. Second, a male newborn, whose parents were first-degree cousins, presented with isolated bilateral postaxial polysyndactyly of the hands and the feet. Third, an adult male, whose parents were first-degree cousins, had bilateral mesoaxial polydactyly of the hands, with severe intellectual disability and multiple malformations. All three probands carried homozygous GLI3 variants. Strikingly, the parents also carried the child's variant, in the heterozygous state, without any clinical sign of GLI3 disease. Given the clinical presentation of our patients, the rarity and predicted high pathogenicity of the variants observed, and the absence of other pathogenic variants, we suggest that these GLI3 homozygous variants are causal. Moreover, the parents were heterozygous for the observed variants, but were clinically unremarkable, suggesting that these variants are hypomorphic alleles.
    MeSH term(s) Adult ; Child ; Female ; Genetic Predisposition to Disease ; Heterozygote ; Homozygote ; Humans ; Infant, Newborn ; Male ; Nerve Tissue Proteins/genetics ; Pedigree ; Polydactyly/genetics ; Polydactyly/pathology ; Zinc Finger Protein Gli3/genetics
    Chemical Substances GLI3 protein, human ; Nerve Tissue Proteins ; Zinc Finger Protein Gli3
    Language English
    Publishing date 2021-07-23
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.62426
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 1376/A: 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.

  7. Article ; Online: De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.

    Royer-Bertrand, Beryl / Jequier Gygax, Marine / Cisarova, Katarina / Rosenfeld, Jill A / Bassetti, Jennifer A / Moldovan, Oana / O'Heir, Emily / Burrage, Lindsay C / Allen, Jake / Emrick, Lisa T / Eastman, Emma / Kumps, Camille / Abbas, Safdar / Van Winckel, Geraldine / Chabane, Nadia / Zackai, Elaine H / Lebon, Sebastien / Keena, Beth / Bhoj, Elizabeth J /
    Umair, Muhammad / Li, Dong / Donald, Kirsten A / Superti-Furga, Andrea

    Molecular autism

    2021  Volume 12, Issue 1, Page(s) 69

    Abstract: Background: De novo variants in the voltage-gated calcium channel subunit α1 E gene (CACNA1E) have been described as causative of epileptic encephalopathy with contractures, macrocephaly and dyskinesias.: Methods: Following the observation of an ... ...

    Abstract Background: De novo variants in the voltage-gated calcium channel subunit α1 E gene (CACNA1E) have been described as causative of epileptic encephalopathy with contractures, macrocephaly and dyskinesias.
    Methods: Following the observation of an index patient with developmental delay and autism spectrum disorder (ASD) without seizures who had a de novo deleterious CACNA1E variant, we screened GeneMatcher for other individuals with CACNA1E variants and neurodevelopmental phenotypes without epilepsy. The spectrum of pathogenic CACNA1E variants was compared to the mutational landscape of variants in the gnomAD control population database.
    Results: We identified seven unrelated individuals with intellectual disability, developmental regression and ASD-like behavioral profile, and notably without epilepsy, who had de novo heterozygous putatively pathogenic variants in CACNA1E. Age of onset of clinical manifestation, presence or absence of regression and degree of severity were variable, and no clear-cut genotype-phenotype association could be recognized. The analysis of disease-associated variants and their comparison to benign variants from the control population allowed for the identification of regions in the CACNA1E protein that seem to be intolerant to substitutions and thus more likely to harbor pathogenic variants. As in a few reported cases with CACNA1E variants and epilepsy, one patient showed a positive clinical behavioral response to topiramate, a specific calcium channel modulator.
    Limitations: The significance of our study is limited by the absence of functional experiments of the effect of identified variants, the small sample size and the lack of systematic ASD assessment in all participants. Moreover, topiramate was given to one patient only and for a short period of time.
    Conclusions: Our results indicate that CACNA1E variants may result in neurodevelopmental disorders without epilepsy and expand the mutational and phenotypic spectrum of this gene. CACNA1E deserves to be included in gene panels for non-specific developmental disorders, including ASD, and not limited to patients with seizures, to improve diagnostic recognition and explore the possible efficacy of topiramate.
    MeSH term(s) Autism Spectrum Disorder/genetics ; Calcium Channels, R-Type/genetics ; Cation Transport Proteins/genetics ; Child ; Developmental Disabilities ; Humans ; Intellectual Disability/genetics ; Phenotype ; Seizures/genetics ; Social Cognition
    Chemical Substances CACNA1E protein, human ; Calcium Channels, R-Type ; Cation Transport Proteins
    Language English
    Publishing date 2021-10-26
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2540930-X
    ISSN 2040-2392 ; 2040-2392
    ISSN (online) 2040-2392
    ISSN 2040-2392
    DOI 10.1186/s13229-021-00473-3
    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.

To top