Search Results - "Mutation genetics"
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1
Authors: et al.
Contributors: et al.
Source: Nature
r-FISABIO. Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Díaz-Gay, M, Zhang, T, Hoang, P H, Leduc, C, Baine, M K, Travis, W D, Sholl, L M, Joubert, P, Khandekar, A, Zhao, W, Steele, C D, Otlu, B, Nandi, S P, Vangara, R, Bergstrom, E N, Kazachkova, M, Pich, O, Swanton, C, Hsiung, C A, Chang, I-S, Wong, M P, Leung, K C, Sang, J, McElderry, J P, Hartman, C, Colón-Matos, F J, Miraftab, M, Saha, M, Lee, O W, Jones, K M, Gallego-García, P, Yang, Y, Zhong, X, Edell, E S, Santamaría, J M, Schabath, M B, Yendamuri, S S, Manczuk, M, Lissowska, J, Świątkowska, B, Mukeria, A, Shangina, O, Zaridze, D, Holcatova, I, Mates, D, Milosavljevic, S, Kontic, M, Bossé, Y, Rothberg, B E G, Christiani, D C, Gaborieau, V, Brennan, P, Liu, G, Hofman, P, Yang, L, Nowak, M A, Shi, J, Rothman, N, Wedge, D C, Homer, R, Yang, S-R, Pesatori, A C, Consonni, D, Lan, Q, Zhu, B, Chanock, S J, Choi, J, Alexandrov, L B & Landi, M T 2025, 'The mutagenic forces shaping the genomes of lung cancer in never smokers', Nature, vol. 644, no. 8075, pp. 133-144. https://doi.org/10.1038/s41586-025-09219-0Subject Terms: Male, Lung Neoplasms/genetics, Genome, Human/genetics, Mutation/genetics, ErbB Receptors/genetics, Tobacco Smoke Pollution/adverse effects, Non-Smokers, Middle Aged, Air Pollution/adverse effects, Mutagenesis/genetics, Proto-Oncogene Proteins p21(ras)/genetics, Europe, Genome, Human/genetics, Humans, Adenocarcinoma/genetics, Tumor Suppressor Protein p53/genetics, Female, Aged
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2
Post-Flood Populations: Haplogroup formation and Fixation Dynamics in from Noah to Babel Dispersion'
Authors: Nailor, Matt
Subject Terms: History, Mutation/genetics, Fixation rates, DNA, Mitochondrial, Linguistics/history, Mutation Accumulation, Mutation Rate, Matt Nailor, Babel Languages, Babel, Language, Tower of Babel, INDEL Mutation/genetics, Genetic Drift, Linguistics, Linguistics/classification, Contemporary history, Young earth creation, Bible, Natural History/history, Founder Effect, Biblical, General language studies, FOS: Languages and literature, Biblical history, Haplogroups, Mitochondria/genetics, Y Chromosome/genetics, Genealogy and Heraldry
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3
Authors: et al.
Contributors: et al.
Source: Journal of Medical Genetics. 62:258-267
Subject Terms: Male, Heart Defects, Congenital, Adult, Neonatal Diseases, Mutation/genetics, Guanine Nucleotide Exchange Factors/genetics, Adolescent, Male/abnormalities, Dwarfism, [SDV.GEN] Life Sciences [q-bio]/Genetics, Genitalia, Male, Congenital, Young Adult, Intellectual Disability, Humans, Guanine Nucleotide Exchange Factors, Abnormalities, Multiple, Genitalia, Preschool, Child, Heart Defects, [SDV.GEN]Life Sciences [q-bio]/Genetics, Congenital/genetics, Infant, Genetic Diseases, X-Linked, Face/abnormalities, Hand Deformities, X-Linked, Intellectual Disability/genetics, Hereditary, Phenotype, Genetic Diseases, Child, Preschool, Face, Multiple/genetics, Mutation, Congenital Hereditary, Syndactyly, Abnormalities, Hand Deformities, Congenital, and Neonatal Diseases and Abnormalities
File Description: application/pdf
Access URL: https://pubmed.ncbi.nlm.nih.gov/39798962
https://univ-rennes.hal.science/hal-04935335v1/document
https://univ-rennes.hal.science/hal-04935335v1
https://doi.org/10.1136/jmg-2022-108868
https://portal.findresearcher.sdu.dk/da/publications/2b1dea24-e6c4-4efa-bd53-c0d09fa14104
https://doi.org/10.1136/jmg-2022-108868 -
4
Authors: Nailor, Matt
Subject Terms: Language/history, Language Disorders, Mutation/genetics, Ancient DNA, FOXP2, Neanderthals/genetics, Young earth creation, DNA, Ancient/analysis, Language Development, Speech Perception/genetics, Specific Language Disorder, Mutation Rate, speech gene, Mutation, Language gene, Genetic design, mutation, DNA, Ancient, Alleles, Language, Neanderthals
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5
Authors: et al.
Source: Kato, K, Nishio, Y, McMillan, K J, Al-Maraghi, A, Kroes, H Y, Abdel-Hamid, M S, Jones, E, Shaw, S, Yoshida, A, Otsuji, S, Murofushi, Y, Aamer, W, Bhat, A A, AlRayahi, J, Al-Shabeeb Akil, A S, Aliyev, E, van Binsbergen, E, Janssen, E J, Mehrin, K M, Oishi, H, Kobayashi, R, Horii, T, Hatada, I, Saito, A, Hattori, M, Kawano, Y, Lewis, P A, Heesom, K J, Takarada, T, Sawamoto, K, Matsushita, M, Ogi, T, Butkovic, R, Danson, C, Wilkinson, K A, Fakhro, K A, Zaki, M S, Saitoh, S & Cullen, P J 2025, 'Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy', Science Translational Medicine, vol. 17, no. 805, eadt2426. https://doi.org/10.1126/scitranslmed.adt2426
Subject Terms: Mice, Phenotype, Mutation/genetics, Craniofacial Abnormalities/genetics, Abnormalities, Multiple/genetics, Multiple/genetics pathology, Sorting Nexins/metabolism, Humans, Animals, Endosomes/metabolism pathology, Endosomes/metabolism, Abnormalities, Craniofacial Abnormalities/genetics pathology
File Description: application/pdf
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6
Authors: et al.
Source: J Med Genet
Torr, B, Bell, N, McCarthy, R, Hamill, M, Nolan, J, Muralidharan, S, Andrews, C, Valganon-Petrizan, M, Clinch, Y, MacMahon, S, Morilla, A, George, A, Ryves, P, Dasani, P, Adegoroye, M, Schlecht, H, Burghel, G J, Ornadel, W, Gordon, N, Steele, L, Lukic, S, Watts, E, Evans, D G, Manchanda, R & Turnbull, C 2025, 'The NHS England Jewish BRCA Testing Programme : overview after first year of implementation (2023-2024)', Journal of Medical Genetics, vol. 62, no. 2, pp. 69-73. https://doi.org/10.1136/jmg-2024-110390Subject Terms: Male, Adult, 0301 basic medicine, 0303 health sciences, Genetic Counseling, Middle Aged, Breast Neoplasms/genetics, BRCA2 Protein/genetics, Germ-Line Mutation/genetics, 03 medical and health sciences, Jews/genetics, Cancer Genetics, Humans, BRCA1 Protein/genetics, Female, Genetic Predisposition to Disease, England/epidemiology, Genetic Testing/methods, Aged
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7
Authors: et al.
Source: Eskin-Schwartz, M, Seraidy, S, Paz, E, Molhem, M, Ranza, E, Antonarakis, S E, Blanc, X, Herman, K, Benko, W S, Libzon, S, Ben Sira, L, Fattal-Valevski, A, Dolgin, V, Birk, O S, Kessel, A, Bross, P, Weiss, C, Azem, A & Zerem, A 2024, 'Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation.', Journal of Medical Genetics, vol. 62, no. 1, jmg-2024-109862, pp. 15-24. https://doi.org/10.1136/jmg-2024-109862
Subject Terms: Male, 0301 basic medicine, Heterozygote, 0303 health sciences, Mutation/genetics, Genetic Diseases, Inborn, Protein Multimerization/genetics, Chaperonin 60, Mitochondrial Proteins, Hereditary Central Nervous System Demyelinating Diseases, 03 medical and health sciences, Phenotype, Child, Preschool, Mitochondrial Proteins/genetics, Exome Sequencing, Mutation, Chaperonin 60/genetics, Humans, Female, Hereditary Central Nervous System Demyelinating Diseases/genetics, Protein Multimerization, Child
Access URL: https://pubmed.ncbi.nlm.nih.gov/39500555
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8
Authors: et al.
Contributors: et al.
Source: Plant Biotechnol J
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Fontanet-Manzaneque, J B, Laibach, N, Herrero-García, I, Coleto-Alcudia, V, Blasco-Escámez, D, Zhang, C, Orduña, L, Alseekh, S, Miller, S, Bjarnholt, N, Fernie, A R, Matus, J T & Caño-Delgado, A I 2024, ' Untargeted mutagenesis of brassinosteroid receptor SbBRI1 confers drought tolerance by altering phenylpropanoid metabolism in Sorghum bicolor ', Plant Biotechnology Journal, vol. 22, pp. 3406-3423 . https://doi.org/10.1111/pbi.14461
Fontanet-Manzaneque, J B, Laibach, N, Herrero-García, I, Coleto-Alcudia, V, Blasco-Escámez, D, Zhang, C, Orduña, L, Alseekh, S, Johansen, S M, Bjarnholt, N, Fernie, A R, Matus, J T & Caño-Delgado, A I 2024, 'Untargeted mutagenesis of brassinosteroid receptor SbBRI1 confers drought tolerance by altering phenylpropanoid metabolism in Sorghum bicolor', Plant Biotechnology Journal, vol. 22, no. 12, pp. 3406-3423. https://doi.org/10.1111/pbi.14461Subject Terms: Mutation/genetics, Drought, Brassinosteroids/metabolism, Arabidopsis, Sorghum bicolor, Sorghum/genetics, Plant Proteins/genetics, Droughts, BRI1, Phenylpropanoid, Gene Expression Regulation, Plant, Mutagenesis, Stress, Physiological, Brassinosteroids, Mutation, Drought Resistance, Arabidopsis/genetics, DAP-seq, Sorghum, Stress, Physiological/genetics, Research Article, Plant Proteins
File Description: application/pdf
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9
Authors: et al.
Source: Smith, M J, Perez-Becerril, C, van der Meer, M, Burghel, G J, Waller, S J, Carney, M, Bunstone, S, Fryer, K, Bowers, N L, Hartley, C L, Smith, P T, Rutherford, S A, Freeman, S R, Lloyd, S K W, Pathmanaban, O N, King, A T, Halliday, D, Duff, C & Evans, D G 2024, 'Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis', Journal of Medical Genetics, vol. 61, no. 11, pp. 1011-1015. https://doi.org/10.1136/jmg-2024-110217
Subject Terms: Male, Adult, Neurofibromin 2, Neurofibromatosis 2, Skin Neoplasms, Neurofibromatoses, Transcription Factors/genetics, Neurilemmoma/genetics, Neurofibromatoses/genetics, SMARCB1 Protein, Middle Aged, Germ-Line Mutation/genetics, 3. Good health, Neurofibromatosis 2/genetics, Skin Neoplasms/genetics, Neurofibromin 2/genetics, Humans, Female, Genetic Predisposition to Disease, Genetic Testing, SMARCB1 Protein/genetics, Neurilemmoma, Germ-Line Mutation, Transcription Factors
File Description: application/pdf
Access URL: https://pubmed.ncbi.nlm.nih.gov/39209702
https://research.manchester.ac.uk/en/publications/6c8aeb05-b5ba-4144-bd50-91cf88084ace
https://doi.org/10.1136/jmg-2024-110217
https://ora.ox.ac.uk/objects/uuid:f98211ec-eafe-41b0-aed7-0311d38253f1
https://doi.org/10.1136/jmg-2024-110217
https://research.manchester.ac.uk/en/publications/6c8aeb05-b5ba-4144-bd50-91cf88084ace
https://pure.manchester.ac.uk/ws/files/348661753/Smith_et_al_2024_Genetic_findings_in.pdf
http://www.scopus.com/inward/record.url?scp=85204210542&partnerID=8YFLogxK
https://doi.org/10.1136/jmg-2024-110217 -
10
Authors: et al.
Contributors: et al.
Source: Furia, F, Levy, A M, Theunis, M, Bamshad, M J, Bartos, M N, Bijlsma, E K, Brancati, F, Cejudo, L, Chong, J X, De Luca, C, Dean, S J, Egense, A, Goel, H, Guenzel, A J, Hüffmeier, U, Legius, E, Mancini, G M S, Marcos-Alcalde, I, Niclass, T, Planes, M, Redon, S, Ros-Pardo, D, Rouault, K, Schot, R, Schuhmann, S, Shen, J J, Tao, A M, Thiffault, I, Van Esch, H, Wentzensen, I M, Barakat, T S, Møller, R S, Gomez-Puertas, P, Chung, W K, Gardella, E & Tümer, Z 2024, ' The phenotypic and genotypic spectrum of individuals with mono-or biallelic ANK3 variants ', Clinical Genetics, vol. 106, no. 5, pp. 574-584 . https://doi.org/10.1111/cge.14587
Subject Terms: Male, 0301 basic medicine, Autism Spectrum Disorder, Epilepsy/genetics, Ankyrins/genetics, aggressivity, ankyrin‐G, autism spectrum disorder, epilepsy, hypotonia, intellectual disability, language delay, neurodevelopmental disorder, sleep disturbances, Child, epilespy, Genetics & Heredity, 0303 health sciences, Phenotype, Child, Preschool, Female, Attention Deficit Disorder with Hyperactivity/genetics, Life Sciences & Biomedicine, Adult, Ankyrins, Mutation/genetics, Adolescent, Genotype, 3105 Genetics, 03 medical and health sciences, Intellectual Disability, Humans, Genetic Predisposition to Disease, Language Development Disorders, Preschool, Alleles, Genetic Association Studies, 0604 Genetics, Science & Technology, ankyrin-G, Epilepsy, 3202 Clinical sciences, Infant, 1103 Clinical Sciences, GENE, Intellectual Disability/genetics, Autism Spectrum Disorder/genetics, DE-NOVO MUTATIONS, Neurodevelopmental Disorders, Attention Deficit Disorder with Hyperactivity, Language Development Disorders/genetics, Mutation, ANKYRIN
File Description: application/pdf
Access URL: https://pubmed.ncbi.nlm.nih.gov/38988293
https://hdl.handle.net/1887/4210430
https://lirias.kuleuven.be/handle/20.500.12942/748352
https://doi.org/10.1111/cge.14587
https://curis.ku.dk/ws/files/407596628/Clinical_Genetics_2024_Furia_The_phenotypic_and_genotypic_spectrum_of_individuals_with_mono_or_biallelic_ANK3.pdf
https://portal.findresearcher.sdu.dk/da/publications/8bd5234c-9b77-4773-a84b-a00885d3d21d
https://doi.org/10.1111/cge.14587 -
11
Authors: et al.
Contributors: et al.
Source: Nat Genet
Subject Terms: Gene Editing, Male, Tumor Suppressor Proteins, Gene Editing/methods, Germ-Line Mutation/genetics, Neoplasms/genetics, Article, Pedigree, 3. Good health, Ubiquitin Thiolesterase/genetics, Neoplasms, Humans, Tumor Suppressor Proteins/genetics, Genetic Predisposition to Disease, Female, Ubiquitin Thiolesterase, Germ-Line Mutation
File Description: application/pdf; text/xml; application/zip
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12
Authors: et al.
Source: Front Oncol
Frontiers in Oncology, Vol 15 (2025) -
13
Authors: et al.
Source: Harrison, C N, Barbui, T, Bose, P, Kiladjian, J-J, Mascarenhas, J, McMullin, M F, Mesa, R & Vannucchi, A M 2025, 'Polycythaemia vera', Nature reviews. Disease primers, vol. 11, 26. https://doi.org/10.1038/s41572-025-00608-3
Subject Terms: Janus Kinase 2/genetics, Hydroxyurea/therapeutic use, Mutation/genetics, Aspirin, Janus Kinase 2, Pyrazoles/therapeutic use, Pyrimidines, Polycythemia Vera/genetics, Risk Factors, Aspirin/therapeutic use, Mutation, Nitriles, Humans, Hydroxyurea, Pyrazoles, name=SDG 3 - Good Health and Well-being, Polycythemia Vera
File Description: application/pdf
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14
Authors: et al.
Contributors: et al.
Source: Rinaldi, B, Bayat, A, Zachariassen, L G, Sun, J-H, Ge, Y-H, Zhao, D, Bonde, K, Madsen, L H, Awad, I A A, Bagiran, D, Sbeih, A, Shah, S M, El-Sayed, S, Lyngby, S M, Pedersen, M G, Stenum-Berg, C, Walker, L C, Krey, I, Delahaye-Duriez, A, Emrick, L T, Sully, K, Murali, C N, Burrage, L C, Plaud Gonzalez, J A, Parnes, M, Friedman, J, Isidor, B, Lefranc, J, Redon, S, Heron, D, Mignot, C, Keren, B, Fradin, M, Dubourg, C, Mercier, S, Besnard, T, Cogne, B, Deb, W, Rivier, C, Milani, D, Bedeschi, M F, Di Napoli, C, Grilli, F, Marchisio, P, Koudijs, S, Veenma, D, Argilli, E, Lynch, S A, Au, P Y B, Ayala Valenzuela, F E, Brown, C, Masser-Frye, D, Jones, M, Patron Romero, L, Li, W L, Thorpe, E, Hecher, L, Johannsen, J, Denecke, J, McNiven, V, Szuto, A, Wakeling, E, Cruz, V, Sency, V, Wang, H, Piard, J, Kortüm, F, Herget, T, Bierhals, T, Condell, A, Zeev, B B, Kaur, S, Christodoulou, J, Piton, A, Zweier, C, Kraus, C, Micalizzi, A, Trivisano, M, Specchio, N, Lesca, G, Møller, R S, Tümer, Z, Musgaard, M, Gerard, B, Lemke, J R, Shi, Y S & Kristensen, A S 2024, ' Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes ', Brain, vol. 147, no. 5, pp. 1837-1855 . https://doi.org/10.1093/brain/awad403
Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M; Pedersen, Miriam G; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andrée; Emrick, Lisa T; ... (2024). Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain : a journal of neurology, 147(5), pp. 1837-1855. Oxford University Press 10.1093/brain/awad403 <http://dx.doi.org/10.1093/brain/awad403>Subject Terms: AMPA receptor, GRIA, GRIA3, clinical biomarker, genotype-phenotype, Male, Adult, Gain of Function Mutation/genetics, Medical Sciences, Adolescent, 610 Medicine & health, [SDV.GEN] Life Sciences [q-bio]/Genetics, Genotype-phenotype, AMPA/genetics, Neurodevelopmental Disorders/genetics, Biomedical Informatics, Loss of Function Mutation/genetics, Young Adult, Loss of Function Mutation, AMPA, Receptors, Medical Specialties, Medicine and Health Sciences, and Immunity, Humans, Receptors, AMPA, Preschool, Child, Biological Phenomena, [SDV.GEN]Life Sciences [q-bio]/Genetics, Cell Phenomena, Clinical biomarker, Life Sciences, Infant, Genetics and Genomics, Phenotype, Neurodevelopmental Disorders, Medical Molecular Biology, Child, Preschool, Gain of Function Mutation, Female, Medical Genetics
File Description: application/pdf
Access URL: https://pubmed.ncbi.nlm.nih.gov/38038360
https://pure.eur.nl/en/publications/d8f07fae-d289-416a-95eb-d6afb33abf5e
https://doi.org/10.1093/brain/awad403
https://hdl.handle.net/2434/1022895
https://doi.org/10.1093/brain/awad403
https://curis.ku.dk/ws/files/387070536/awad403_2_.pdf
https://univ-rennes.hal.science/hal-04386909v1/document
https://doi.org/10.1093/brain/awad403
https://univ-rennes.hal.science/hal-04386909v1
https://portal.findresearcher.sdu.dk/da/publications/47af7f6f-7eb6-414f-9a42-c49a4c13d49f
https://doi.org/10.1093/brain/awad403
https://boris.unibe.ch/189780/ -
15
Authors:
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16
Authors: et al.
Contributors: et al.
Source: Acta Neuropathol
Subject Terms: Male, Glioma / genetics, Adolescent, Colorectal Neoplasms, Hereditary Nonpolyposis / genetics, DNA-Binding Proteins / genetics, DNA Mismatch Repair, DNA Mismatch Repair / genetics, Neoplastic Syndromes, Hereditary / genetics, MutS Homolog 2 Protein / genetics, Immunohistochemistry / methods, Brain Neoplasms / pathology, MutL Protein Homolog 1 / genetics, Neoplastic Syndromes, Hereditary, Germ-Line Mutation / genetics, Humans, Child, Mismatch Repair Endonuclease PMS2, Brain Neoplasms, Mismatch Repair Endonuclease PMS2 / metabolism, Glioma / metabolism, Infant, Colorectal Neoplasms, Hereditary Nonpolyposis / pathology, DNA-Binding Proteins / metabolism, Glioma, Brain Neoplasms / genetics, Immunohistochemistry, Colorectal Neoplasms, Hereditary Nonpolyposis, Mismatch Repair Endonuclease PMS2 / genetics, DNA-Binding Proteins, Lynch syndrome, MutS Homolog 2 Protein, Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis, Pediatric high-grade glioma, Neoplastic Syndromes, Hereditary / diagnosis, Child, Preschool, Glioma / pathology, Original Article, Female, Colorectal Neoplasms, MutL Protein Homolog 1, Constitutional mismatch repair deficiency, MutS Homolog 2 Protein / metabolism
File Description: application/pdf
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17
Authors: et al.
Source: Mol Neurobiol
Molecular neurobiology 61(10), 7830-7844 (2024). doi:10.1007/s12035-024-03974-3Subject Terms: 0301 basic medicine, DNA Methylation/genetics [MeSH], RTT, Parkinson Disease/metabolism [MeSH], Cell Line, Tumor [MeSH], Epigenetic, Intron, Parkinson Disease/genetics [MeSH], Rett Syndrome/genetics [MeSH], Genomic target, alpha-Synuclein/genetics [MeSH], DNA methylation, Parkinson's disease, Mutation/genetics [MeSH], Methyl-CpG-Binding Protein 2/genetics [MeSH], Humans [MeSH], Alpha-synuclein, Introns/genetics [MeSH], MeCP2, Rett Syndrome/metabolism [MeSH], Article, Methyl-CpG-Binding Protein 2/metabolism [MeSH], Protein Binding [MeSH], Methyl-CpG binding protein 2, alpha-Synuclein/metabolism [MeSH], Rett syndrome, MECP2 protein, human, Methyl-CpG-Binding Protein 2, 1702 Cognitive Sciences, metabolism [Parkinson Disease], genetics [Introns], genetics [Mutation], genetics [DNA Methylation], 03 medical and health sciences, genetics [Parkinson Disease], ddc:570, Cell Line, Tumor, Rett Syndrome, Humans, metabolism [alpha-Synuclein], SNCA protein, human, metabolism [Methyl-CpG-Binding Protein 2], metabolism [Rett Syndrome], 0303 health sciences, Neurology & Neurosurgery, genetics [Methyl-CpG-Binding Protein 2], Parkinson Disease, DNA Methylation, Introns, 1701 Psychology, Mutation, genetics [alpha-Synuclein], alpha-Synuclein, genetics [Rett Syndrome], SNCA, 1109 Neurosciences, Protein Binding
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18
Authors: et al.
Contributors: et al.
Source: Epilepsia
Subject Terms: GEFS+, Mutation/genetics, Medizin, Clinical Neurology, Epilepsies, Myoclonic, Epilepsies, Epilepsy/genetics, Seizures, Febrile, Status Epilepticus, severe myoclonic epilepsy of infancy, Seizures, Humans, SCN1A, Genetic Association Studies, Retrospective Studies, NAV1.1 Voltage-Gated Sodium Channel/genetics, Epilepsy, Febrile/genetics, Dravet syndrome, Myoclonic/genetics, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Neurology, Mutation, genotype–phenotype associations, Human medicine
File Description: application/pdf
Access URL: https://pubmed.ncbi.nlm.nih.gov/38410936
https://dspace.library.uu.nl/handle/1874/454752
https://repository.uantwerpen.be/docstore/d:irua:22808
https://hdl.handle.net/10067/2048780151162165141
https://www.ncbi.nlm.nih.gov/pubmed/38410936
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85186626069
https://doi.org/10.1111/epi.17882 -
19
Authors: et al.
Source: bioRxiv
Mol Psychiatry
Molecular psychiatry, vol. 30, no. 8, pp. 3413-3429Subject Terms: YY1 Transcription Factor/genetics, YY1 Transcription Factor/metabolism, Humans, Gene Regulatory Networks/genetics, Neurons/metabolism, Mutation/genetics, Neurogenesis/genetics, Intellectual Disability/genetics, Astrocytes/metabolism, Haploinsufficiency/genetics, Transcription Factors/metabolism, Transcription Factors/genetics, Neurodevelopmental Disorders/genetics, Neural Stem Cells/metabolism, Basic Helix-Loop-Helix Transcription Factors/metabolism, Basic Helix-Loop-Helix Transcription Factors/genetics, Cerebral Cortex/metabolism, Male, Article
File Description: application/pdf
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20
Authors: et al.
Source: Bauwens, M, Celik, E, Zur, D, Lin, S, Quinodoz, M, Michaelides, M, Webster, A R, Van Den Broeck, F, Leroy, B P, Rizel, L, Moye, A R, Meunier, A, Tran, H V, Moulin, A P, Mahieu, Q, Van Heetvelde, M, Arno, G, Rivolta, C, De Baere, E & Ben-Yosef, T 2024, ' Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction ', American Journal of Human Genetics, vol. 111, no. 2, pp. 393-402 . https://doi.org/10.1016/j.ajhg.2024.01.001
Subject Terms: Homeodomain Proteins, retina, macular dystrophy, Mutation/genetics, Macular Degeneration/genetics, inherited retinal diseases, Retina, Trans-Activators/genetics, Mice, Macular Degeneration, Mutation, SAMD7, Trans-Activators, Animals, Humans, Eye Abnormalities, mutation, Homeodomain Proteins/genetics
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