نتائج البحث - "Claire C. Homan"

1

Disrupted Excitatory Synaptic Contacts and Altered Neuronal Network Activity Underpins the Neurological Phenotype in PCDH19-Clustering Epilepsy (PCDH19-CE)

المؤلفون: Jozef Gecz, Stefka Mincheva-Tasheva, Paul Q. Thomas, Claire C. Homan, Alvaro F. Nieto Guil

المساهمون: Mincheva-Tasheva, Stefka, Nieto Guil, Alvaro F, Homan, Claire C, Gecz, Jozel, Thomas, Paul Q

المصدر: Molecular Neurobiology. 58:2005-2018

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8cdf130faf6db0903814af8aeba3cccTest
https://doi.org/10.1007/s12035-020-02242-4Test

2

Clonal hematopoiesis in individuals with ANKRD26 or ETV6 germline mutations

مصطلحات موضوعية: Phenocopy, Genetics, ETV6, Mutation, Germline mutation, Somatic cell, Clone (cell biology), medicine, Biology, medicine.disease_cause, Phenotype, Germline

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::580d2a5488fc8813180c959ea5b48040Test
https://doi.org/10.1101/2021.11.17.468983Test

3

PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy

المؤلفون: C Tan, Jozef Gecz, Paul Q. Thomas, Sandra Piltz, Thu-Hien To, Lachlan A. Jolly, Claire C. Homan, Mark A. Corbett, Stephen Pederson, Ernst J. Wolvetang

المساهمون: Homan, Claire C, Pederson, Stephen, To, Thu-Hien, Tan, Chuan, Piltz, Sandra, Corbett, Mark A, Wolvetang, Ernst, Thomas, Paul Q, Jolly, Lachlan A, Gecz, Jozef

المصدر: Neurobiology of Disease, Vol 116, Iss, Pp 106-119 (2018)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9855de95422b92db2ddf1ffea00cba43Test
http://www.sciencedirect.com/science/article/pii/S0969996118301426Test

4

Disrupted Excitatory Synaptic Contacts and Altered Neuronal Network Activity Underpins the Neurological Phenotype in PCDH19-Clustering Epilepsy (PCDH19-CE)

المؤلفون: Stefka, Mincheva-Tasheva, Alvaro F, Nieto Guil, Claire C, Homan, Jozef, Gecz, Paul Q, Thomas

المصدر: Molecular neurobiology. 58(5)

مصطلحات موضوعية: Mice, Knockout, Heterozygote, Mice, Epilepsy, Mosaicism, Mutation, Synapses, Animals, Nerve Net, Cadherins, Axons, Protocadherins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::3a77c65239aefd7899cb7aa639e06638Test
https://pubmed.ncbi.nlm.nih.gov/33411240Test

5

RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML

المؤلفون: Andrew Dubowsky, Jinghua Feng, Amanda Wells, Stefan Fröhling, Meryl Altree, Andreas W. Schreiber, Sue Morgan, Lesley Rawlings, Richard J D'Andrea, Anna L. Brown, Chan-Eng Chong, Joëlle Michaud, Andrew H. Wei, Georges Natsoulis, Jeffrey Suttle, Rachel Susman, Cassandra Vakulin, Tilmann Bochtler, Uday R. Popat, Mark S. Currie, Paul Wang, Milena Babic, Ella J Wilkins, Christopher N. Hahn, Miriam Fine, Xiaochun Li, Jessica Burdett, Belinda Mercorella, Catherine Carmichael, Nigel Patton, Denae Henry, Marshall S. Horwitz, Peer Arts, Kerry Phillips, Julian Cooney, Sarah Moore, Sally Mapp, Nicola K. Poplawski, Thuong Ha, Sarah L King-Smith, Louise Jaensch, Shai Izraeli, Devendra K Hiwase, Julia Dobbins, Lucy A. Godley, Cecily Forsyth, Kenneth F. Bradstock, Carolyn M. Butcher, Helen Mar Fan, Grace McKavanagh, Hugh Y. Rienhoff, Hamish S. Scott, Mario Nicola, Elli Papaemmanuil, Ping Cannon, Ian D. Lewis, Claire C. Homan, Peter J. Brautigan, Alwin Krämer

المساهمون: Brown, Anna L, Arts, Peer, Babic, Milena, Dobbins, Julia, Feng, Jinghua, Ha, Thuong, Homan, Claire C, King-Smith, Sarah L, Li, Xiao-Chun, Brautigan, Peter, Butcher, Carolyn, D'Andrea, Richard J, Hahn, Christopher N, Scott, Hamish S

المصدر: Blood advances. 4(6)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30cc21538186700c18e024f443315b4bTest
https://pubmed.ncbi.nlm.nih.gov/32208489Test

6

Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα)

المؤلفون: Mark A. Corbett, Paul Q. Thomas, Jozef Gecz, Duyen H. Pham, Chuan C. Tan, Kristy L. Kolc, Archa H. Fox, Claire C. Homan, Dale McAninch, Raman Kumar

المساهمون: Pham, Duyen H, Tan, Chuan C, Homan, Claire C, Kolc, Kristy L, Corbett, Mark A, McAninch, Dale, Fox, Archa H, Thomas, Paul Q, Kumar, Raman, Gecz, Jozef

المصدر: Human Molecular Genetics

مصطلحات موضوعية: 0301 basic medicine, Gene Expression, Estrogen receptor, cell adhesion molecules, 0302 clinical medicine, Nuclear Matrix-Associated Proteins, genes, Genetics (clinical), Regulation of gene expression, RNA-Binding Proteins, estrogen receptors, Articles, gene expression regulation, General Medicine, Cadherins, Pedigree, 3. Good health, Cell biology, DNA-Binding Proteins, Gene Expression Regulation, Neoplastic, comorbidity, chimerism, Octamer Transcription Factors, neurosteroids, behavioral problems, Protocadherin, Breast Neoplasms, Biology, x chromosomes, 03 medical and health sciences, Cell Line, Tumor, Intellectual Disability, genetic inheritance, Genetics, Humans, cancer, Molecular Biology, Estrogen receptor beta, cognitive impairment, hemizygosity, Epilepsy, hormones, Estrogen Receptor alpha, Paraspeckle, heterozygote, Protocadherins, Androgen receptor, HEK293 Cells, mosaicism, nuclear hormone receptor, 030104 developmental biology, Nuclear receptor, Mutation, gene expression, epilepsy, autistic disorder, mutation, metabolism, Estrogen receptor alpha, breast cancer cells, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07e1eba5c559243dbd2c6ad9db9bea88Test
https://doi.org/10.1093/hmg/ddx094Test

7

Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females

المؤلفون: Jozef Gecz, Irma Järvelä, Claire C. Homan, Matilda R. Jackson, Marie Shaw, Alison Gardner, Monica H. N. Thai, Maria Arvio, Laura Määttänen, Cheryl Shoubridge, Karagh E. Loring

المساهمون: HYKS erva, Päijät-Häme Welfare Consortium, Irma Järvelä / Principal Investigator, University Management, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Jackson, Matilda R, Loring, Karagh E, Homan, Claire C, Thai, Monica HN, Määttänen, Laura, Arvio, Maria, Jarvela, Irma, Shaw, Marie, Gardner, Alison, Gecz, Jozef, Shoubridge, Cheryl

المصدر: Life Science Alliance

مصطلحات موضوعية: 0301 basic medicine, Male, Health, Toxicology and Mutagenesis, Loss of Heterozygosity, Plant Science, 030105 genetics & heredity, medicine.disease_cause, Loss of heterozygosity, Mice, POSTSYNAPTIC DENSITY, OF-FUNCTION MUTATIONS, Intellectual disability, Guanine Nucleotide Exchange Factors, Receptor, DNA METHYLATION, Research Articles, Mice, Knockout, Mutation, Ecology, ADP-Ribosylation Factors, Brain, Middle Aged, Phenotype, Pedigree, RECEPTORS, intellectual disability, NEURAL INFORMATION, Female, Research Article, medicine.medical_specialty, Nerve Tissue Proteins, Biochemistry, Genetics and Molecular Biology (miscellaneous), 03 medical and health sciences, Seizures, Internal medicine, Intellectual Disability, IQSEC2, medicine, Animals, Humans, Autistic Disorder, Gene, Loss function, Aged, business.industry, IQSEC2 protein, medicine.disease, NUCLEOTIDE EXCHANGE FACTOR, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, Endocrinology, DE-NOVO MUTATIONS, ADP-Ribosylation Factor 6, 3111 Biomedicine, business, Neurocognitive, GENERATION