6 results on '"Rots, Dmitrijs"'
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2. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
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de Boer, Elke, Ockeloen, Charlotte, Kampen, Rosalie, Hampstead, Juliet, Dingemans, Alexander, Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline, Helm, Benjamin, Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally, Mathijssen, Irene, Mcgowan, Ruth, Monaghan, Kristin, Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs, Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter, Stegmann, Alexander, Swagemakers, Sigrid, Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie, Wéber, Mathys, Gilissen, Christian, Low, Karen, Fisher, Simon, Dingemans, Alexander J.M., Goos, Jacqueline A.C., Mathijssen, Irene M.J., Santen, Gijs W.E., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske, MUMC+: DA KG Lab Specialisten (9), RS: FHML non-thematic output, Pathology, Plastic and Reconstructive Surgery and Hand Surgery, Radboud University [Nijmegen], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hospices Civils de Lyon (HCL), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, This work was financially supported by Aspasia grants of the Dutch Research Council (015.014.036 to T.K. and 015.014.066 to L.E.L.M.V.), Netherlands Organization for Health Research and Development (91718310 to T.K.), and the Max Planck Society (M.M.K.W., S.E.F.). Individual 4 was sequenced at the Scottish Genomes Partnership. The Scottish Genomes Partnership was funded by the Chief Scientist Office of the Scottish Government Health Directorates (SGP/1) and the Medical Research Council Whole Genome Sequencing for Health and Wealth Initiative (MC/PC/15080). The Deciphering Developmental Disorders study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003). This study makes use of Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (https://www.deciphergenomics.org/), which is funded by Wellcome. See Deciphering Developmental Disorders study8 or https://www.ddduk.org/access.html for full acknowledgment., Institut Català de la Salut, [de Boer E, Dingemans AJM, Rots D] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands. [Ockeloen CW] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. [Kampen RA] Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands. [Hampstead JE] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands. [Lasa-Aranzasti A] Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca en Medicina Genètica, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus
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Neuroinformatics ,Proteasome Endopeptidase Complex ,[SDV]Life Sciences [q-bio] ,fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo [FENÓMENOS Y PROCESOS] ,Mutation, Missense ,Genotype-phenotype study ,enfermedades musculoesqueléticas::enfermedades óseas::enfermedades óseas del desarrollo [ENFERMEDADES] ,Ossos - Malalties - Aspectes genètics ,ANKRD11 ,All institutes and research themes of the Radboud University Medical Center ,Missense variants ,Intellectual Disability ,Other subheadings::Other subheadings::/genetics [Other subheadings] ,Humans ,Genotype–phenotype study ,Musculoskeletal Diseases::Bone Diseases::Bone Diseases, Developmental [DISEASES] ,Abnormalities, Multiple ,Genetics (clinical) ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,Bone Diseases, Developmental ,Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Stomatognathic System Abnormalities::Tooth Abnormalities [DISEASES] ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,Otros calificadores::Otros calificadores::/genética [Otros calificadores] ,Tooth Abnormalities ,Neurodevelopmental disorders ,Facies ,Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6] ,KBG syndrome ,Repressor Proteins ,Anomalies cromosòmiques ,Phenotype ,enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::anomalías del sistema estomatognático::anomalías dentarias [ENFERMEDADES] ,Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense [PHENOMENA AND PROCESSES] ,Chromosome Deletion ,Dents - Malformacions - Aspectes genètics ,Transcription Factors - Abstract
KBG syndrome; Missense variants; Neurodevelopmental disorders Síndrome KBG; Variants de missense; Trastorns del neurodesenvolupament Síndrome KBG; Variantes de missense; Trastornos del neurodesarrollo Purpose Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized clinical, molecular, and functional spectra of ANKRD11 missense variants. Methods We collected clinical information of individuals with ANKRD11 missense variants and evaluated phenotypic fit to KBG syndrome. We assessed pathogenicity of variants through in silico analyses and cell-based experiments. Results We identified 20 unique, mostly de novo, ANKRD11 missense variants in 29 individuals, presenting with syndromic neurodevelopmental disorders similar to KBG syndrome caused by ANKRD11 protein truncating variants or 16q24.3 microdeletions. Missense variants significantly clustered in repression domain 2 at the ANKRD11 C-terminus. Of the 10 functionally studied missense variants, 6 reduced ANKRD11 stability. One variant caused decreased proteasome degradation and loss of ANKRD11 transcriptional activity. Conclusion Our study indicates that pathogenic heterozygous ANKRD11 missense variants cause the clinically recognizable KBG syndrome. Disrupted transrepression capacity and reduced protein stability each independently lead to ANKRD11 loss-of-function, consistent with haploinsufficiency. This highlights the diagnostic relevance of ANKRD11 missense variants, but also poses diagnostic challenges because the KBG-associated phenotype may be mild and inherited pathogenic ANKRD11 (missense) variants are increasingly observed, warranting stringent variant classification and careful phenotyping.
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- 2022
3. Clinical Phenotyping and Biomarkers in Kennedy Disease
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Priedite Viktorija, Millere Elina, Gailite Linda, Rots Dmitrijs, Zetterberg Henrik, Taurina Gita, Blennow Kaj, Kenina Viktorija, Glazere Ieva, and Kurjane Natalja
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Oncology ,medicine.medical_specialty ,business.industry ,Internal medicine ,medicine ,Disease ,business - Published
- 2020
4. Association of in-vitro fertilization twin pregnancy with maternal and perinatal complications
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Miltina Inara, Purina-Liberte Katrina, Rezeberga Dace, Rots Dmitrijs, and Grasmane Adele
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Gestational hypertension ,medicine.medical_specialty ,medicine.medical_treatment ,Intrauterine growth restriction ,lcsh:Medicine ,Plant Science ,medicine ,Pregnancy induced hypertension ,Twin Pregnancy ,reproductive and urinary physiology ,Gestational diabetes ,Fetus ,In vitro fertilisation ,General Veterinary ,Obstetrics ,business.industry ,Confounding ,lcsh:R ,Obstetrics and Gynecology ,medicine.disease ,Exact test ,Reproductive Medicine ,Animal Science and Zoology ,business ,IVF twins - Abstract
Objective: To analyze maternal and perinatal complication rates in in-vitro fertilization (IVF) twins and spontaneous twin pregnancies. Methods: The information on obstetric and perinatal outcomes and complications covering 95 IVF twins and 165 spontaneous twin pregnancies was collected from the medical records of Riga Maternity Hospital. Statistical analysis and adjustment for confounders was performed using the SPSS v24.0 software. The continuous data were compared using the t-test and Mann-Whitney U test for parametrical and non-parametrical data accordingly. The nominal data were analyzed using Pearson’s Chi-square test and Fisher’s exact test. Results: The preterm labor risk, intrauterine growth restriction, fetus weight between IVF and spontaneous twins were not statistically significant (P>0.005). At the same time our study revealed a statistically significant association of gestational diabetes and pregnancy induced hypertension with IVF twin pregnancies (P=0.025 and P=0.003, respectively). Moreover, IVF twins had higher odds to be delivered by cesarean section (P=0.001). Conclusions: IVF twin pregnancies are associated with a higher risk of development of gestational diabetes and gestational hypertension than spontaneous twin pregnancies.
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- 2018
5. Association of ARID5B Genetic Variants with Risk of Childhood B Cell Precursor Acute Lymphoblastic Leukaemia in Latvia
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Kreile, Madara, Rots, Dmitrijs, Zarina, Agnese, Rautiainen, Linda, Visnevska-Preciniece, Zelma, Kovalova, Zhanna, and Gailite, Linda
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Childhood ALL ,genetic variants ,ARID5B ,Latvia ,susceptibility ,Research Article - Abstract
Background: Acute lymphoblastic leukaemia (ALL) is the most common malignancy in childhood. Despite numerous investigations very little is still known about its aetiology. However, in one genome wide association study conducted to identify the possible genetic risk factors, two allelic variations rs10821936 and rs10994982 in the 3rd intron of the ARID5B gene were identified as possible ALL risk alleles. Association between ARID5B gene variants and ALL risk was also been confirmed for different ethnic groups. Materials and Methods: Eight genetic variants in the gene ARID5B were genotyped - rs10994982, rs7908445, rs7923074, rs10821936, rs10821937, rs7896246, rs10821938 and rs7089424 in 77 ALL patients in remission and in 122 age and gender matched controls; parental samples were also genotyped in 50 cases. Results: Six out of the eight (rs7908445, rs7923074, rs10821936, rs10821937, rs7896246 and rs7089424) analysed allelic variations were identified in the case-control analysis as statistically significant risk alleles for ALL development. In the family study and using hybrid analysis, all allelic variations were significantly associated with ALL. During the study, risk haplotype was identified rs10994982/rs7908445/rs7923074/ rs10821936/ rs10821937/rs7896246/rs10821938/rs7089424 – ATACCAAG – with a frequency in cases of 0.17 and in the control group at 0.29 (chi square = 6.69, p value = 0.009). In the family association study the same haplotype showed statistical significance (chi squared = 10.3, p value = 0.001). Conclusions: Results of the study replicate and extend previously published findings for ARID5B localized allelic variants, but do not explain the mechanism of action related to the pathogenesis of ALL.
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- 2018
6. A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
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Blok, Lot Snijders, Verseput, Jolijn, Rots, Dmitrijs, Venselaar, Hanka, Innes, A. M., Stumpel, Connie, KATRIN OUNAP, Reinson, Karit, Seaby, Eleanor G., Mckee, Shane, Burton, Barbara, Hagen, Johanna M., Waisfisz, Quinten, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Li, Dong, Zackai, Elaine, Sheppard, Sarah, Keena, Beth, Hakonarson, Hakon, Roos, Andreas, Kohlschmidt, Nicolai, Cereda, Anna, Iascone, Maria, Rebessi, Erika, Kernohan, Kristin D., Campeau, Philippe M., Millan, Francisca, Taylor, Jesse A., Bernhard, Birgitta, Fisher, Simon E., Brunner, Han G., and Kleefstra, Tjitske
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