Výsledky vyhledávání - "Neurodevelopmental Disorders pathology"

Further delineation of the SCAF4-associated neurodevelopmental disorder

Autoři: Cosima M. Schmid Anne Gregor Anna Ruiz a další

Přispěvatelé: Cosima M. Schmid Anne Gregor Anna Ruiz a další

Zdroj: Eur J Hum Genet
European Journal of Human Genetics, 33, 5, pp. 588-594
European journal of human genetics, vol. 33, no. 5, pp. 588-594
Schmid, C M, Gregor, A, Ruiz, A, Manso Bazús, C, Herman, I, Ammouri, F, Kotzaeridou, U, McNiven, V, Dupuis, L, Steindl, K, Begemann, A, Rauch, A, Suter, A A, Isidor, B, Mercier, S, Nizon, M, Cogné, B, Deb, W, Besnard, T, Haack, T B, Falb, R J, Müller, A J, Linden, T, Haldeman-Englert, C R, Ockeloen, C W, Mattioli, F, Reymond, A, Ibrahim, N, Naz, S, Lacaze, E, Bassetti, J A, Hoefele, J, Brunet, T, Riedhammer, K M, Elloumi, H Z, Person, R, Zou, F, Kahle, J J, Cremer, K, Schmidt, A, Delrue, M A, Almeida, P M, Ramos, F, Srivastava, S, Quinlan, A, Robertson, S, Manka, E, Kuechler, A, Spranger, S, Nowaczyk, M J M, Elshafie, R M, Alsharhan, H, Hillman, P R, Dunnington, L A, Braakman, H M H, McKee, S, Moresco, A, Ignat, A D, Newbury-Ecob, R, Banneau, G, Patat, O, Kuerbitz, J, Rzucidlo, S, Sell, S S, Gordon, P, Schuhmann, S, Reis, A, Halleb, Y, Stoeva, R, Keren, B, Al Masseri, Z, Tümer, Z, Hammer-Hansen, S, Krüger Sølyst, S, Steigerwald, C G, Abreu, N J, Faust, H, Müller-Nedebock, A, Tran Mau-Them, F, Sticht, H & Zweier, C 2025, ' Further delineation of the SCAF4-associated neurodevelopmental disorder ', European Journal of Human Genetics, vol. 33, no. 5, pp. 588-594 . https://doi.org/10.1038/s41431-024-01760-2

Témata: Male, Adult, 0301 basic medicine, 2716 Genetics (clinical), Adolescent, 10039 Institute of Medical Genetics, Medizin, Mutation, Missense, 610 Medicine & health, Humans, Female, Neurodevelopmental Disorders/genetics, Neurodevelopmental Disorders/pathology, Child, Preschool, Child, Phenotype, Infant, Article, 03 medical and health sciences, 1311 Genetics, Genetics research, Genetics, Genetics (clinical), 0303 health sciences, Paediatrics - Development and lifelong plasticity, Autism spectrum disorders, Neurodevelopmental Disorders, 570 Life sciences, biology, Human Genetics - Development and lifelong plasticity

Popis souboru: application/pdf; s41431_024_01760_2.pdf - application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39668183
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/318974
https://hdl.handle.net/2066/318974
https://repository.ubn.ru.nl//bitstream/handle/2066/318974/318974.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C4EA3A0740C86
https://serval.unil.ch/notice/serval:BIB_C4EA3A0740C8
https://serval.unil.ch/resource/serval:BIB_C4EA3A0740C8.P001/REF.pdf
https://curis.ku.dk/ws/files/449711814/s41431-024-01760-2.pdf
https://www.zora.uzh.ch/id/eprint/266396/
https://doi.org/10.5167/uzh-266396
https://www.ncbi.nlm.nih.gov/pubmed/39668183
https://doi.org/10.1038/s41431-024-01760-2
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85211941491

A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia

Autoři: Tess Holling Ibrahim M. Abdelrazek Ghada M. Elhady a další

Zdroj: J Hum Genet

Témata: 0301 basic medicine, 0303 health sciences, 38/77, 45/90, Neurodevelopmental Disorders/pathology [MeSH], Cerebellum/abnormalities [MeSH], Cerebellum/metabolism [MeSH], Codon, Nonsense [MeSH], Neurodevelopmental Disorders/genetics [MeSH], Alternative Splicing/genetics [MeSH], Magnetic Resonance Imaging [MeSH], Cerebellum/diagnostic imaging [MeSH], 45/22, Phenotype [MeSH], 692/699/375, Child [MeSH], Nervous System Malformations/genetics [MeSH], Cerebellum/pathology [MeSH], Homozygote [MeSH], Female [MeSH], Nonsense Mediated mRNA Decay/genetics [MeSH], Exons/genetics [MeSH], 692/308/2056, Humans [MeSH], Developmental Disabilities [MeSH], Article, Pedigree [MeSH], Nervous System Malformations/pathology [MeSH], 45/23, Receptors, LDL/genetics [MeSH], article, Developmental Disabilities, Homozygote, Exons, Nervous System Malformations, Magnetic Resonance Imaging, Pedigree, Nonsense Mediated mRNA Decay, 3. Good health, Alternative Splicing, 03 medical and health sciences, Phenotype, Receptors, LDL, Codon, Nonsense, Neurodevelopmental Disorders, Cerebellum, Humans, Female, Child

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/39085459
https://repository.publisso.de/resource/frl:6492449

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Autoři: Dana E. Layo-Carris Emily E. Lubin Annabel K. Sangree a další

Přispěvatelé: Dana E. Layo-Carris Emily E. Lubin Annabel K. Sangree a další

Zdroj: Eur J Hum Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
European journal of human genetics
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; ... (2024). Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), pp. 928-937. Springer Nature 10.1038/s41431-024-01610-1 <http://dx.doi.org/10.1038/s41431-024-01610-1>

Témata: Male, 0301 basic medicine, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, Intellectual disability, Gene, Histones, Genetic heterogeneity, FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo, PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype, Genetics(clinical), Missense mutation, Child, 0303 health sciences, Life Sciences, Neurodegenerative Diseases, 16. Peace & justice, Genomic Rearrangements and Copy Number Variations, 3. Good health, Fenotip, Chemistry, Phenotype, Child, Preschool, Molecular Basis of Rett Syndrome and Related Disorders, Female, Epigenetics, Trastorns del desenvolupament - Aspectes genètics, Adult, Adolescent, 610 Medicine & health, Hypotonia, Adolescent [MeSH], Female [MeSH], Adult [MeSH], Histones/genetics [MeSH], Humans [MeSH], Neurodevelopmental Disorders/pathology [MeSH], Intellectual Disability/genetics [MeSH], 631/208/1516, Neurodegenerative Diseases/pathology [MeSH], Neurodevelopmental Disorders/genetics [MeSH], Neurodegenerative Diseases/genetics [MeSH], Intellectual Disability/pathology [MeSH], 631/208/366, Article, Male [MeSH], Phenotype [MeSH], Child [MeSH], article, Child, Preschool [MeSH], 03 medical and health sciences, Neurodevelopmental disorder, Intellectual Disability, Biochemistry, Genetics and Molecular Biology, Journal Article, Genetics, DISEASES::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability, ENFERMEDADES::afecciones patológicas, signos y síntomas::signos y síntomas::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual, Humans, Discapacitat intel·lectual, Biology, Brain Development, Standards and Guidelines for Genetic Variant Interpretation, Neurodevelopmental Disorders, FOS: Biological sciences, Human medicine, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38678163
https://hdl.handle.net/11351/11842
https://dspace.library.uu.nl/handle/1874/454819
https://hdl.handle.net/1887/4210177
https://hdl.handle.net/10067/2058020151162165141
https://repository.uantwerpen.be/docstore/d:irua:23508
https://boris.unibe.ch/196319/
https://repository.publisso.de/resource/frl:6492310
https://discovery-pp.ucl.ac.uk/id/eprint/10191954/

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology: deep insights into phenotype-genotype spectrum and underlying pathology

Autoři: Henry Oppermann Elia Marcos-Grañeda Linnea A. Weiss a další

Přispěvatelé: Henry Oppermann Elia Marcos-Grañeda Linnea A. Weiss a další

Zdroj: Eur J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
European journal of human genetics, vol. 31, no. 11, pp. 1251-1260
Oppermann, H, Marcos-Grañeda, E, Weiss, L A, Gurnett, C A, Jelsig, A M, Vineke, S H, Isidor, B, Mercier, S, Magnussen, K, Zacher, P, Hashim, M, Pagnamenta, A T, Race, S, Srivastava, S, Frazier, Z, Maiwald, R, Pergande, M, Milani, D, Rinelli, M, Levy, J, Krey, I, Fontana, P, Lonardo, F, Riley, S, Kretzer, J, Rankin, J, Reis, L M, Semina, E V, Reuter, M S, Scherer, S W, Iascone, M, Weis, D, Fagerberg, C R, Brasch-Andersen, C, Hansen, L K, Kuechler, A, Noble, N, Gardham, A, Tenney, J, Rathore, G, Beck-Woedl, S, Haack, T B, Pavlidou, D C, Atallah, I, Vodopiutz, J, Janecke, A R, Hsieh, T-C, Lesmann, H, Klinkhammer, H, Krawitz, P M, Lemke, J R, Jamra, R A, Nieto, M, Tümer, Z & Platzer, K 2023, ' CUX1-related neurodevelopmental disorder : deep insights into phenotype-genotype spectrum and underlying pathology ', European journal of human genetics : EJHG, vol. 31, no. 11, pp. 1251-1260 . https://doi.org/10.1038/s41431-023-01445-2

Témata: Adult, Homeodomain Proteins, Repressor Proteins/genetics, Heterozygote, Epilepsy, Neurodevelopmental disorders, ICTS (Institute of Clinical and Translational Sciences), Medizin, Transcription Factors/genetics, Neurodevelopmental Disorders/genetics, Intellectual Disability/genetics, Article, 3. Good health, Repressor Proteins, Mice, Phenotype, Neurodevelopmental Disorders, Seizures, Intellectual Disability, Medicine and Health Sciences, Animals, Humans, Homeodomain Proteins/genetics, Intellectual Disability/diagnosis, Neurodevelopmental Disorders/pathology, Transcription Factors/metabolism, Transcription Factors

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/37644171
http://hdl.handle.net/10261/341970
https://serval.unil.ch/notice/serval:BIB_483D54F3B66F
https://serval.unil.ch/resource/serval:BIB_483D54F3B66F.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_483D54F3B66F6
https://curis.ku.dk/ws/files/387700368/s41431_023_01445_2.pdf

Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release

Autoři: Simon Früh Sami Boudkkazi Peter Koppensteiner a další

Zdroj: Sci Adv
Science Advances, 10, 28, pp. eadk5462
Science advances, vol. 10, no. 28, pp. eadk5462
Früh, S, Boudkkazi, S, Koppensteiner, P, Sereikaite, V, Chen, L Y, Fernandez-Fernandez, D, Rem, P D, Ulrich, D, Schwenk, J, Chen, Z, Monnier, E L, Fritzius, T, Innocenti, S M, Besseyrias, V, Trovò, L, Stawarski, M, Argilli, E, Sherr, E H, van Bon, B, Kamsteeg, E J, Iascone, M, Pilotta, A, Cutrì, M R, Azamian, M S, Hernández-García, A, Lalani, S R, Rosenfeld, J A, Zhao, X, Vogel, T P, Ona, H, Scott, D A, Scheiffele, P, Strømgaard, K, Tafti, M, Gassmann, M, Fakler, B, Shigemoto, R & Bettler, B 2024, ' Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release ', Science Advances, vol. 10, no. 28, adk5462 . https://doi.org/10.1126/sciadv.adk5462
Science Advances, vol 10, iss 28

Témata: Male, Medical Sciences, Knockout, Human Genetics - Radboud University Medical Center - DCMN, Synaptic Transmission, Biomedical Informatics, Mice, Loss of Function Mutation, Medical Specialties, Medicine and Health Sciences, and Immunity, Animals, Humans, Alleles, Biological Phenomena, Mice, Knockout, Neurons, Neurotransmitter Agents, Epilepsy, Neuronal Plasticity, Cell Phenomena, Life Sciences, Genetics and Genomics, 3. Good health, Neurodevelopmental Disorders, Medical Molecular Biology, Synapses, Female, Epilepsy/metabolism, Epilepsy/genetics, Epilepsy/pathology, Neurodevelopmental Disorders/metabolism, Neurodevelopmental Disorders/genetics, Neurodevelopmental Disorders/pathology, Neurons/metabolism, Neurotransmitter Agents/metabolism, Synapses/metabolism, Cell Adhesion Molecules/genetics, Cell Adhesion Molecules/metabolism, Medical Genetics, Cell Adhesion Molecules, Neuroscience

Popis souboru: application/pdf; pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38985877
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/308531
https://repository.ubn.ru.nl//bitstream/handle/2066/308531/308531.pdf
https://hdl.handle.net/2066/308531
https://serval.unil.ch/notice/serval:BIB_7A8C59E2CF12
https://serval.unil.ch/resource/serval:BIB_7A8C59E2CF12.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_7A8C59E2CF124
https://curis.ku.dk/ws/files/399667393/sciadv.adk5462.pdf
https://escholarship.org/content/qt82d7f1n3/qt82d7f1n3.pdf
https://escholarship.org/uc/item/82d7f1n3

Exploring pseudouridylation: dysregulation in disease and therapeutic potential.

Autoři: Guillen-Angel, M. Roignant, J.Y.

Zdroj: Current opinion in genetics & development, vol. 87, pp. 102210

Témata: Humans, Pseudouridine/metabolism, Pseudouridine/genetics, COVID-19/genetics, Neoplasms/genetics, Neoplasms/therapy, Neoplasms/metabolism, Neoplasms/pathology, SARS-CoV-2/genetics, RNA Processing, Post-Transcriptional/genetics, RNA, Messenger/genetics, Messenger/metabolism, Animals, Neurodevelopmental Disorders/genetics, Neurodevelopmental Disorders/therapy, Neurodevelopmental Disorders/metabolism, Neurodevelopmental Disorders/pathology, COVID-19 Vaccines, Protein Biosynthesis, RNA Splicing/genetics, Transfer/genetics, Transfer/metabolism

Popis souboru: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/38833893; info:eu-repo/semantics/altIdentifier/eissn/1879-0380; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_5728369E06963; https://serval.unil.ch/notice/serval:BIB_5728369E0696; https://serval.unil.ch/resource/serval:BIB_5728369E0696.P001/REF.pdf

Dostupnost: https://serval.unil.ch/notice/serval:BIB_5728369E0696
https://doi.org/10.1016/j.gde.2024.102210
https://serval.unil.ch/resource/serval:BIB_5728369E0696.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5728369E06963

Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability

Autoři: Authier, Florence Ondruskova, Nina Ferenbach, Andrew T. a další

Zdroj: Authier, F, Ondruskova, N, Ferenbach, A T, McNeilly, A D & van Aalten, D M F 2024, 'Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability', Disease Models & Mechanisms, vol. 17, no. 4, dmm050671. https://doi.org/10.1242/dmm.050671

Témata: O-GlcNAcylation, Intellectual disability, Vertebrate development, Body Weight, N-Acetylglucosaminyltransferases/metabolism, Glycosylation, Neurodevelopmental Disorders/pathology, Intellectual Disability/genetics, Brain/pathology, Phenotype, Animals, Mice, beta-N-Acetylhexosaminidases/metabolism, Disease Models, Animal

Dostupnost: https://pure.au.dk/portal/en/publications/16b547c1-4f94-4258-8dbb-e205a50ac255
https://doi.org/10.1242/dmm.050671
http://www.scopus.com/inward/record.url?scp=85191398464&partnerID=8YFLogxK

Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability

Autoři: Florence Authier Nina Ondruskova Andrew T. Ferenbach a další

Zdroj: Dis Model Mech
Disease Models & Mechanisms, Vol 17, Iss 4 (2024)
Authier, F, Ondruskova, N, Ferenbach, A T, McNeilly, A D & van Aalten, D M F 2024, 'Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability', Disease Models & Mechanisms, vol. 17, no. 4, dmm050671. https://doi.org/10.1242/dmm.050671

Témata: Glycosylation, beta-N-Acetylhexosaminidases/metabolism, Intellectual disability, N-Acetylglucosaminyltransferases/metabolism, Neurodevelopmental Disorders/pathology, N-Acetylglucosaminyltransferases, name=Immunology and Microbiology (miscellaneous), Mice, O-GlcNAcylation, Intellectual Disability, name=General Biochemistry,Genetics and Molecular Biology, vertebrate development, Pathology, RB1-214, Animals, Brain/pathology, name=Medicine (miscellaneous), name=Neuroscience (miscellaneous), Body Weight, Brain, o-glcnacylation, Intellectual Disability/genetics, beta-N-Acetylhexosaminidases, Disease Models, Animal, Phenotype, intellectual disability, Neurodevelopmental Disorders, Medicine, Vertebrate development, Research Article

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38566589
https://doaj.org/article/efc22cabbb364e4299dad3bb5b55dac5
https://pure.au.dk/portal/en/publications/16b547c1-4f94-4258-8dbb-e205a50ac255
http://www.scopus.com/inward/record.url?scp=85191398464&partnerID=8YFLogxK
https://doi.org/10.1242/dmm.050671

Behavioural characterization of AnkyrinG deficient mice, a model for ANK3 related disorders.

Autoři: van der Werf, I.M. Van Dam, D. Missault, S. a další

Témata: Animals, Ankyrins/deficiency, Ankyrins/genetics, Anxiety/metabolism, Anxiety/pathology, Brain/metabolism, Brain/pathology, Cognition/physiology, Disease Models, Animal, Heterozygote, Male, Mice, Inbred C57BL, Knockout, Motor Activity/physiology, Neurodevelopmental Disorders/metabolism, Neurodevelopmental Disorders/pathology, Neurodevelopmental Disorders/psychology, Phenotype, Protein Isoforms, Sensory Gating/physiology, Social Behavior, Ank3, AnkyrinG, Behavioural testing, Mouse model, Neurodevelopmental disorders

Relation: Behavioural Brain Research; https://iris.unil.ch/handle/iris/219762; serval:BIB_8900B5ABEBA4; 000403983400024

Dostupnost: https://iris.unil.ch/handle/iris/219762
https://doi.org/10.1016/j.bbr.2017.04.014

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

Autoři: Qebibo, L. Davakan, A. Nesson-Dauphin, M. a další

Témata: Humans, Calcium Channels, T-Type/genetics, T-Type/metabolism, Female, Male, Child, Phenotype, Mutation, Missense/genetics, Neurodevelopmental Disorders/genetics, Neurodevelopmental Disorders/pathology, Preschool, Genetic Association Studies, Adolescent, Heterozygote, Infant, CACNA1G gene, Cerebellum, Neurodevelopment, Spinocerebellar ataxia, T-type voltage-gated calcium channel

Relation: Genetics in Medicine; https://iris.unil.ch/handle/iris/178366; serval:BIB_B7F418138EEF; 001425153800001

Dostupnost: https://iris.unil.ch/handle/iris/178366
https://doi.org/10.1016/j.gim.2024.101337

Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.

Autoři: Sønderby, Ida E Ching, Christopher R K Ayesa-Arriola, Rosa a další

Zdroj: Human brain mapping 43(1), 300-328 (2022). doi:10.1002/hbm.25354

Témata: info:eu-repo/classification/ddc/610, Brain: diagnostic imaging, Brain: growth & development, Brain: pathology, DNA Copy Number Variations, Humans, Magnetic Resonance Imaging, Mental Disorders: diagnostic imaging, Mental Disorders: genetics, Mental Disorders: pathology, Multicenter Studies as Topic, Neurodevelopmental Disorders: diagnostic imaging, Neurodevelopmental Disorders: genetics, Neurodevelopmental Disorders: pathology, Neuroimaging, brain structural imaging, copy number variant, diffusion tensor imaging, evolution, genetics-first approach, neurodevelopmental disorders, psychiatric disorders

Geografické téma: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:33615640; info:eu-repo/semantics/altIdentifier/issn/1065-9471; info:eu-repo/semantics/altIdentifier/issn/1097-0193; https://pub.dzne.de/record/155631

Dostupnost: https://pub.dzne.de/record/155631
https://pub.dzne.de/search?p=id:%22DZNE-2021-00799%22

Essential genetic findings in neurodevelopmental disorders

Autoři: Cardoso, AR Lopes-Marques, M Silva, RM a další

Přispěvatelé: Cardoso, AR Lopes-Marques, M Silva, RM a další

Témata: Brain-related genes, de novo mutations, Deleterious mutations, Gene interaction, Neurodevelopmental disorders, Polymorphisms, Risk alleles, DNA Copy Number Variations / genetics, Gene-Environment Interaction, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Humans, Mutation / genetics, Neurodevelopmental Disorders / genetics, Neurodevelopmental Disorders / pathology

Popis souboru: application/pdf

Relation: info:eu-repo/grantAgreement/FCT/5876/147343/PT; Human Genomics, vol.13(1):31; https://humgenomics.biomedcentral.com/articles/10.1186/s40246-019-0216-4; https://hdl.handle.net/10216/136229

Dostupnost: https://hdl.handle.net/10216/136229
https://doi.org/10.1186/s40246-019-0216-4

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

Autoři: Rehman, A.U. Najafi, M. Kambouris, M. a další

Zdroj: Human mutation, vol. 40, no. 3, pp. 267-280

Témata: Adult, Alleles, Child, Preschool, Endocytosis, Endosomes/metabolism, Endosomes/ultrastructure, Female, Fibroblasts/metabolism, Fibroblasts/ultrastructure, Homozygote, Humans, Infant, Newborn, Loss of Function Mutation/genetics, Male, Myelin Sheath/metabolism, Myelin Sheath/ultrastructure, Neurodevelopmental Disorders/genetics, Neurodevelopmental Disorders/pathology, Pedigree, Phosphoprotein Phosphatases/chemistry, Phosphoprotein Phosphatases/genetics, Syndrome, Transferrin/metabolism, PPP1R21, early endosome, endo-lysosome, neurodevelopmental syndrome, storage disease

Popis souboru: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/30520571; info:eu-repo/semantics/altIdentifier/eissn/1098-1004; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_02BDC16E88393; https://serval.unil.ch/notice/serval:BIB_02BDC16E8839; https://serval.unil.ch/resource/serval:BIB_02BDC16E8839.P001/REF.pdf

Dostupnost: https://serval.unil.ch/notice/serval:BIB_02BDC16E8839
https://doi.org/10.1002/humu.23694
https://serval.unil.ch/resource/serval:BIB_02BDC16E8839.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_02BDC16E88393

Brain Abnormalities in Patients with Germline Variants in H3F3 : Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors

Autoři: Alves, C. A. P. F. Sherbini, O. Powell-Hamilton, N. N. a další

Zdroj: American journal of neuroradiology 43(7), 1048 - 1053 (2022). doi:10.3174/ajnr.A7555

Témata: info:eu-repo/classification/ddc/610, Brain: diagnostic imaging, Brain: pathology, Brain Neoplasms: diagnostic imaging, Brain Neoplasms: genetics, Brain Neoplasms: pathology, Child, Germ Cells: pathology, Histones: genetics, Humans, Male, Malformations of Cortical Development: pathology, Neurodevelopmental Disorders: pathology, Retrospective Studies

Geografické téma: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:35772801; info:eu-repo/semantics/altIdentifier/issn/0195-6108; info:eu-repo/semantics/altIdentifier/issn/1936-959X; https://pub.dzne.de/record/164828

Dostupnost: https://pub.dzne.de/record/164828
https://pub.dzne.de/search?p=id:%22DZNE-2022-01272%22

Molecular Profiling Reveals Involvement of ESCO2 in Intermediate Progenitor Cell Maintenance in the Developing Mouse Cortex.

Autoři: Ulmke, Pauline Antonie Sakib, M Sadman Nguyen, Huu Phuc a další

Zdroj: Stem cell reports 16(4), 968 - 984 (2021). doi:10.1016/j.stemcr.2021.03.008

Témata: info:eu-repo/classification/ddc/610, Acetyltransferases: genetics, Acetyltransferases: metabolism, Animals, Apoptosis: genetics, Cerebral Cortex: cytology, Cerebral Cortex: embryology, Chromatids: metabolism, Chromosome Segregation: genetics, Gene Expression Profiling, Gene Expression Regulation, Humans, Mice, Mitosis: genetics, Mutation: genetics, Neural Stem Cells: cytology, Neural Stem Cells: metabolism, Neurodevelopmental Disorders: genetics, Neurodevelopmental Disorders: pathology, Signal Transduction, ESCO2, TBR2, apoptosis, cell-cycle regulation, chromosome segregation, cortical development, cortical malformation, intermediate progenitor cells, signaling pathways, transcription factors

Geografické téma: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:33798452; info:eu-repo/semantics/altIdentifier/issn/2213-6711; https://pub.dzne.de/record/157752

Dostupnost: https://pub.dzne.de/record/157752
https://pub.dzne.de/search?p=id:%22DZNE-2021-01209%22

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.

Autoři: Hengel, Holger Hannan, Shabab B Alzaidan, Hamad a další

Zdroj: The American journal of human genetics 108(6), 1069 - 1082 (2021). doi:10.1016/j.ajhg.2021.04.024

Témata: info:eu-repo/classification/ddc/570, Adolescent, Adult, Animals, Cell Movement, Child, Preschool, Drosophila, Female, Fibroblasts: metabolism, Fibroblasts: pathology, Humans, Infant, Loss of Function Mutation, Loss of Heterozygosity, Male, Mice, Knockout, Neoplasm Proteins: genetics, Neoplasm Proteins: metabolism, Neurodevelopmental Disorders: etiology, Neurodevelopmental Disorders: metabolism, Neurodevelopmental Disorders: pathology, Pedigree, Proteome: analysis, Young Adult, BCAS3, UAS-Gal4, fibroblasts, global developmental delay

Geografické téma: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:34022130; info:eu-repo/semantics/altIdentifier/issn/1537-6605; info:eu-repo/semantics/altIdentifier/issn/0002-9297; https://pub.dzne.de/record/155888

Dostupnost: https://pub.dzne.de/record/155888
https://pub.dzne.de/search?p=id:%22DZNE-2021-01048%22

Genetic architecture of subcortical brain structures in 38,851 individuals.

Autoři: Satizabal, Claudia L Adams, Hieab H H Smith, Albert V a další

Zdroj: Nature genetics 51(11), 1624-1636 (2019). doi:10.1038/s41588-019-0511-y

Témata: info:eu-repo/classification/ddc/570, Adult, Aged, Animals, Brain: anatomy & histology, Brain: metabolism, Cohort Studies, Drosophila melanogaster: genetics, Drosophila melanogaster: growth & development, Drosophila melanogaster: metabolism, Genetic Variation, Genome-Wide Association Study, Humans, Magnetic Resonance Imaging, Middle Aged, Neurodevelopmental Disorders: genetics, Neurodevelopmental Disorders: pathology, Organ Size

Geografické téma: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1546-1718; info:eu-repo/semantics/altIdentifier/issn/1061-4036; info:eu-repo/semantics/altIdentifier/pmid/pmid:31636452; https://pub.dzne.de/record/141593

Dostupnost: https://pub.dzne.de/record/141593
https://pub.dzne.de/search?p=id:%22DZNE-2020-07917%22