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Article: Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome-Two Sides of the Same Coin?

Ballardin, Demetra / Cruz-Gamero, Jose M / Bienvenu, Thierry / Rebholz, Heike

2022 Volume 9, Page(s) 850559

Abstract: In recent years, variants in the catalytic and regulatory subunits of the kinase CK2 have been found to underlie two different, yet symptomatically overlapping neurodevelopmental disorders, termed Okur-Chung neurodevelopmental syndrome (OCNDS) and ... ...

Abstract	In recent years, variants in the catalytic and regulatory subunits of the kinase CK2 have been found to underlie two different, yet symptomatically overlapping neurodevelopmental disorders, termed Okur-Chung neurodevelopmental syndrome (OCNDS) and Poirier-Bienvenu neurodevelopmental syndrome (POBINDS). Both conditions are predominantly caused by
Language	English
Publishing date	2022-05-26
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2814330-9
ISSN	2296-889X
ISSN	2296-889X
DOI	10.3389/fmolb.2022.850559
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Article ; Online: Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis.

Dermine, Solène / Masson, Emmanuelle / Girodon-Boulandet, Emmanuelle / Bienvenu, Thierry / Férec, Claude / Lévy, Philippe / Rebours, Vinciane

Clinics and research in hepatology and gastroenterology

2024 Volume 48, Issue 6, Page(s) 102346

Abstract: Genetic testing is performed for unexplained pancreatitis. The aim of this study was to evaluate the diagnostic value of repeating genetic testing in idiopathic pancreatitis when new predisposing genes are identified. We investigated 330 patients who ... ...

Abstract	Genetic testing is performed for unexplained pancreatitis. The aim of this study was to evaluate the diagnostic value of repeating genetic testing in idiopathic pancreatitis when new predisposing genes are identified. We investigated 330 patients who were initially screened for PRSS1, SPINK1 and CFTR genes. A new analysis was performed by Next-Generation Sequencing (NGS) for PRSS1, SPINK1, CFTR, CTRC, CASR, CPA1, TRPV6 genes and the CEL-HYB1 allele in clinical practice, and patients were included in our cohort study. Additional rare variants were identified in 7.3 % of the patients. Screening for new pancreatitis genes is recommended when initial screening is limited. Routine use of NGS is a useful diagnostic tool in these cases.
Language	English
Publishing date	2024-04-22
Publishing country	France
Document type	Journal Article
ZDB-ID	2594333-9
ISSN	2210-741X ; 2210-7401
ISSN (online)	2210-741X
ISSN	2210-7401
DOI	10.1016/j.clinre.2024.102346
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Article ; Online: The value of plasma cell-free DNA levels as biomarker in patients with eating disorders: A preliminary study.

Verebi, Camille / Nectoux, Juliette / Duriez, Philibert / Gorwood, Philip / Ramoz, Nicolas / Bienvenu, Thierry

Psychoneuroendocrinology

2023 Volume 160, Page(s) 106918

Abstract: Objective: Circulating cell-free DNA (cfDNA) holds promise as a rapid and convenient biomarker for identifying individuals with eating disorders. To investigate this hypothesis, we measured plasma cfDNA in patients with different eating disorders.: ... ...

Abstract	Objective: Circulating cell-free DNA (cfDNA) holds promise as a rapid and convenient biomarker for identifying individuals with eating disorders. To investigate this hypothesis, we measured plasma cfDNA in patients with different eating disorders. Methods: In this study, 110 participants (98 patients with eating disorders divided into 30 patients with bulimia nervosa, 33 patients with anorexia nervosa (AN) Restricting subtype, 35 patients with AN Binge-eating/purging subtype and 12 controls) were enrolled. We measured both cell-free nuclear DNA (cf-nDNA) and cell-free mitochondrial DNA (cf-mtDNA) from plasma using two specific droplet digital PCR assays each, referring to two amplicon sizes. Results: Levels of plasma cf-nDNA and cf-mtDNA showed no significant differences between control participants and those with eating disorders. However, we observed a higher proportion of long cf-nDNA fragments in patients with eating disorders, suggesting its potential as a biomarker for eating disorders. Conclusion: This is the first study of cfDNA in patients with eating disorders. Our findings highlight the potential for qualitative exploration of cfDNA, although not of quantitative interest. Full characterization of cfDNA may serve as a valuable biomarker for eating disorders and provide some insights into the hidden mechanisms underlying the chronic development of these conditions. Future studies are needed to confirm or refute this hypothesis.
MeSH term(s)	Humans ; Feeding and Eating Disorders/diagnosis ; Feeding and Eating Disorders/genetics ; Anorexia Nervosa/diagnosis ; Anorexia Nervosa/genetics ; Biomarkers ; DNA, Mitochondrial/genetics ; Cell-Free Nucleic Acids
Chemical Substances	Biomarkers ; DNA, Mitochondrial ; Cell-Free Nucleic Acids
Language	English
Publishing date	2023-12-06
Publishing country	England
Document type	Journal Article
ZDB-ID	197636-9
ISSN	1873-3360 ; 0306-4530
ISSN (online)	1873-3360
ISSN	0306-4530
DOI	10.1016/j.psyneuen.2023.106918
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Article: Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges

Bienvenu, Thierry / Lopez, Maureen / Girodon, Emmanuelle

Genes. 2020 June 04, v. 11, no. 6

2020

Abstract: Identification of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and its numerous variants opened the way to fantastic breakthroughs in diagnosis, research and treatment of cystic fibrosis (CF). The current and future challenges of ... ...

Abstract	Identification of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and its numerous variants opened the way to fantastic breakthroughs in diagnosis, research and treatment of cystic fibrosis (CF). The current and future challenges of molecular diagnosis of CF and CFTR-related disorders and of genetic counseling are here reviewed. Technological advances have enabled to make a diagnosis of CF with a sensitivity of 99% by using next generation sequencing in a single step. The detection of heretofore unidentified variants and ethnic-specific variants remains challenging, especially for newborn screening (NBS), CF carrier testing and genotype-guided therapy. Among the criteria for assessing the impact of variants, population genetics data are insufficiently taken into account and the penetrance of CF associated with CFTR variants remains poorly known. The huge diversity of diagnostic and genetic counseling indications for CFTR studies makes assessment of variant disease-liability critical. This is especially discussed in the perspective of wide genome analyses for NBS and CF carrier screening in the general population, as future challenges.
Keywords	counseling ; cystic fibrosis ; cystic fibrosis transmembrane conductance regulator ; genes ; high-throughput nucleotide sequencing ; neonates ; penetrance ; population genetics ; screening ; therapeutics
Language	English
Dates of publication	2020-0604
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes11060619
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Article ; Online: Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.

Bienvenu, Thierry / Lopez, Maureen / Girodon, Emmanuelle

Genes

2020 Volume 11, Issue 6

Abstract: Identification of the cystic fibrosis transmembrane conductance ... ...

Abstract	Identification of the cystic fibrosis transmembrane conductance regulator
MeSH term(s)	Cystic Fibrosis/diagnosis ; Cystic Fibrosis/genetics ; Cystic Fibrosis/pathology ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Genetic Counseling ; Genotype ; Humans ; Infant, Newborn ; Neonatal Screening ; Pathology, Molecular ; Penetrance
Chemical Substances	Cystic Fibrosis Transmembrane Conductance Regulator (126880-72-6)
Language	English
Publishing date	2020-06-04
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes11060619
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Article ; Online: A systematic literature review and meta-analysis of circulating nucleic acids as biomarkers in psychiatry.

Verebi, Camille / Nectoux, Juliette / Gorwood, Philip / Le Strat, Yann / Duriez, Philibert / Ramoz, Nicolas / Bienvenu, Thierry

Progress in neuro-psychopharmacology & biological psychiatry

2023 Volume 125, Page(s) 110770

Abstract: Common mental disorders (CMDs) such as depression, anxiety and post-traumatic stress disorders account for 40% of the global burden of disease. In most psychiatric disorders, both diagnosis and monitoring can be challenging, frequently requiring long- ... ...

Abstract	Common mental disorders (CMDs) such as depression, anxiety and post-traumatic stress disorders account for 40% of the global burden of disease. In most psychiatric disorders, both diagnosis and monitoring can be challenging, frequently requiring long-term investigation and follow-up. The discovery of better methods to facilitate accurate and fast diagnosis and monitoring of psychiatric disorders is therefore crucial. Circulating nucleic acids (CNAs) are among these new tools. CNAs (DNA or RNA) can be found circulating in body biofluids, and can be isolated from biological samples such as plasma. They can serve as biomarkers for diagnosis and prognoses. They appear to be promising for disorders (such as psychiatric disorders) that involve organs or structures that are difficult to assess. This review presents an accurate assessment of the current literature about the use of plasma and serum cell-free DNA (cfDNA) as biomarkers for several aspects of psychiatric disorders: diagnosis, prognosis, treatment response, and monitor disease progression. For each psychiatric disorder, we examine the effect sizes to give insights on the efficacy of CNAs as biomarkers. The global effect size for plasma nuclear and mitochondrial cfDNA studies was generally moderate for psychiatric disorders. In addition, we discuss future applications of CNAs and particularly cfDNA as non-invasive biomarkers for these diseases.
MeSH term(s)	Humans ; Cell-Free Nucleic Acids/genetics ; Biomarkers ; Prognosis ; DNA ; Psychiatry
Chemical Substances	Cell-Free Nucleic Acids ; Biomarkers ; DNA (9007-49-2)
Language	English
Publishing date	2023-04-15
Publishing country	England
Document type	Systematic Review ; Meta-Analysis ; Journal Article ; Review
ZDB-ID	781181-0
ISSN	1878-4216 ; 0278-5846
ISSN (online)	1878-4216
ISSN	0278-5846
DOI	10.1016/j.pnpbp.2023.110770
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Article ; Online: Rheumatoid arthritis-associated bronchiectasis.

Puéchal, Xavier / Bienvenu, Thierry / Dusser, Daniel

Lancet (London, England)

2019 Volume 393, Issue 10185, Page(s) 2035–2036

MeSH term(s)	Arthritis, Rheumatoid ; Bronchiectasis ; Humans ; Microbiota
Language	English
Publishing date	2019-06-13
Publishing country	England
Document type	Letter ; Comment
ZDB-ID	3306-6
ISSN	1474-547X ; 0023-7507 ; 0140-6736
ISSN (online)	1474-547X
ISSN	0023-7507 ; 0140-6736
DOI	10.1016/S0140-6736(19)30020-0
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Article ; Online: Génétique des kératodermies palmoplantaires complexes et syndromiques.

Sperelakis-Beedham, Brian / Lopez, Maureen / Girodon, Emmanuelle / Hickman, Geoffroy / Bourrat, Emmanuelle / Bienvenu, Thierry

Annales de biologie clinique

2021 Volume 79, Issue 6, Page(s) 551–565

Abstract: Palmoplantar keratodermas (PPK) comprise a heterogenous group of acquired and hereditary disorders marked by excessive thickening of the epidermis of palms and soles. Hereditary PPKs can be classified into 3 groups: 1) isolated non-syndromic PPKs; 2) ... ...

Title translation	Genetics of complex and syndromic palmoplantar keratoderma.
Abstract	Palmoplantar keratodermas (PPK) comprise a heterogenous group of acquired and hereditary disorders marked by excessive thickening of the epidermis of palms and soles. Hereditary PPKs can be classified into 3 groups: 1) isolated non-syndromic PPKs; 2) complex non-syndromic PPKs associated with other ectodermal defects; and 3) syndromic PPKs associated with extracutaneous manifestations. All types of inheritance have been observed: autosomal dominant, autosomal recessive, X-linked recessive, and mitochondrial. Some of these disorders are restricted to geographic isolates. This review describes the different genetic causes of hereditary syndromic and complex PPKs for which the genes have been identified. The identification of pathogenic variants has consequences in terms of genetic counseling, appropriate medical care and follow-up, especially for PPKs predisposing to hearing loss, cardiomyopathies, benign tumors or carcinomas. In addition, the development of targeted therapies based on pathophysiology of disorders should allow a more effective treatment of these conditions in the near future.
MeSH term(s)	Humans ; Keratoderma, Palmoplantar/diagnosis ; Keratoderma, Palmoplantar/genetics ; Pedigree
Language	French
Publishing date	2021-12-24
Publishing country	France
Document type	Journal Article ; Review
ZDB-ID	418098-7
ISSN	1950-6112 ; 0003-3898
ISSN (online)	1950-6112
ISSN	0003-3898
DOI	10.1684/abc.2021.1688
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Article ; Online: HDAC inhibitor ameliorates behavioral deficits in Mecp2

Lebrun, Nicolas / Delépine, Chloé / Selloum, Mohamed / Meziane, Hamid / Nectoux, Juliette / Herault, Yann / Bienvenu, Thierry

Brain research

2021 Volume 1772, Page(s) 147670

Abstract: Rett syndrome (RTT) is a rare X-linked neurodevelopmental disorder. More than 95% of classic RETT syndrome cases result from pathogenic variants in the methyl-CpG binding protein 2 (MECP2) gene. Nevertheless, it has been established that a spectrum of ... ...

Abstract	Rett syndrome (RTT) is a rare X-linked neurodevelopmental disorder. More than 95% of classic RETT syndrome cases result from pathogenic variants in the methyl-CpG binding protein 2 (MECP2) gene. Nevertheless, it has been established that a spectrum of neuropsychiatric phenotypes is associated with MECP2 variants in both females and males. We previously reported that microtubule growth velocity and vesicle transport directionality are altered in Mecp2-deficient astrocytes from newborn Mecp2-deficient mice compared to that of their wild-type littermates suggesting deficit in microtubule dynamics. In this study, we report that administration of tubastatin A, a selective HDAC6 inhibitor, restored microtubule dynamics in Mecp2-deficient astrocytes. We furthermore report that daily doses of tubastatin A reversed early impaired exploratory behavior in male Mecp2
MeSH term(s)	Animals ; Astrocytes/metabolism ; Behavior, Animal ; Exploratory Behavior ; Female ; Histone Deacetylase 6/antagonists & inhibitors ; Histone Deacetylase Inhibitors/pharmacology ; Histone Deacetylase Inhibitors/therapeutic use ; Hydroxamic Acids/therapeutic use ; Indoles/therapeutic use ; Male ; Methyl-CpG-Binding Protein 2/genetics ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Microtubules/drug effects ; Psychomotor Performance/drug effects ; Rett Syndrome/drug therapy ; Rett Syndrome/psychology ; Social Behavior
Chemical Substances	Histone Deacetylase Inhibitors ; Hydroxamic Acids ; Indoles ; Mecp2 protein, mouse ; Methyl-CpG-Binding Protein 2 ; tubastatin A (2XTSOX1NF8) ; Hdac6 protein, mouse (EC 3.5.1.98) ; Histone Deacetylase 6 (EC 3.5.1.98)
Language	English
Publishing date	2021-09-25
Publishing country	Netherlands
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1200-2
ISSN	1872-6240 ; 0006-8993
ISSN (online)	1872-6240
ISSN	0006-8993
DOI	10.1016/j.brainres.2021.147670
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Article: Loss of the KH1 domain of FMR1 in humans due to a synonymous variant causes global developmental retardation

Carion, Nathalie / Briand, Audrey / Cuisset, Laurence / Pacot, Laurence / Afenjar, Alexandra / Bienvenu, Thierry

Gene. 2020 Aug. 30, v. 753

2020

Abstract: Fragile X syndrome (FXS) is a monogenic disorder and a common cause of intellectual disability (ID). Up to now, very few pathological variants other than the typical CGG-repeat expansion have been reported in the FMR1 gene.A panel of 56 intellectual ... ...

Abstract	Fragile X syndrome (FXS) is a monogenic disorder and a common cause of intellectual disability (ID). Up to now, very few pathological variants other than the typical CGG-repeat expansion have been reported in the FMR1 gene.A panel of 56 intellectual disability (ID) genes including the FMR1 gene was sequenced in a cohort of 300 patients with unexplained ID. To determine the effect of a new FMR1 variant, total RNA from peripheral blood cells was reverse transcribed, amplified by polymerase chain reaction and sequenced.We report a novel G to A point variant (c.801G > A) located at the last nucleotide of exon 8 in the FMR1 gene in one patient with ID. Direct sequencing of the RT-PCR products revealed that the transcript from the allele with G to A variant skips exon 8 entirely, resulting in a joining of exons 7 and 9. Skipping of exon 8 may result in an abnormal FMR1 protein (FMRP), which removes the highly conserved region that encoding the KH1 domain of FMRP.This report describes for the first time that a synonymous variant in the FMR1 gene is associated with an error in mRNA processing, leading preferentially to the production of an aberrant transcript without exon 8. This splice variant was associated with an unspecific clinical presentation, suggesting the need for more detailed investigation of silent variants in ID patients with a large spectrum of phenotypes.
Keywords	RNA ; alleles ; blood cells ; exons ; humans ; patients ; phenotype ; polymerase chain reaction
Language	English
Dates of publication	2020-0830
Publishing place	Elsevier B.V.
Document type	Article
Note	NAL-light
ZDB-ID	391792-7
ISSN	1879-0038 ; 0378-1119
ISSN (online)	1879-0038
ISSN	0378-1119
DOI	10.1016/j.gene.2020.144793
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