نتائج البحث - "Clare V Logan"

المصدر: 2018, ' A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation ', American Journal of Human Genetics, vol. 103, no. 4, pp. 553-567 . https://doi.org/10.1016/j.ajhg.2018.09.003

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Glycosylation, Decorin, Vesicular Transport Proteins, Golgi Apparatus, 030105 genetics & heredity, Endoplasmic Reticulum, Cell Line, Animals, Genetically Modified, Extracellular matrix, 03 medical and health sciences, symbols.namesake, chemistry.chemical_compound, Genetics, medicine, Animals, Humans, Child, Zebrafish, Genetics (clinical), biology, Infant, Heterozygote advantage, Fibroblasts, Golgi apparatus, medicine.disease, Molecular biology, Extracellular Matrix, Vesicular transport protein, Protein Transport, 030104 developmental biology, Amino Acid Substitution, Proteoglycan, chemistry, Child, Preschool, Fragile X Syndrome, biology.protein, symbols, Female, Proteoglycans, Primordial dwarfism

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d721b72718fd3c2ac578bb583e21db4b
https://doi.org/10.1016/j.ajhg.2018.09.003

6

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

المصدر: Neuron, vol 109, iss 2

مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, Secondary, Cell Cycle Proteins, brain development, Neurodegenerative, medicine.disease_cause, Inbred C57BL, Nervous System, Protein Structure, Secondary, Transgenic, Cohort Studies, Mice, Gene Knockout Techniques, 0302 clinical medicine, 2.1 Biological and endogenous factors, Psychology, microcephaly, Aetiology, Cerebellar hypoplasia, Genetics, Mutation, General Neuroscience, neurodegeneration, Peptidylprolyl Isomerase, Pedigree, PRP17, RNA splicing, PCHM, cyclophilin, Neurological, Heredodegenerative Disorders, Nervous System, Female, Cognitive Sciences, RNA Splicing Factors, Heredodegenerative Disorders, Spliceosome, Protein Structure, Isomerase activity, proline isomerase, Pontocerebellar hypoplasia, Mice, Transgenic, Biology, 03 medical and health sciences, alternative splicing, Rare Diseases, Cerebellar Diseases, medicine, Animals, Humans, Amino Acid Sequence, Neurology & Neurosurgery, pontocerebellar hypoplasia, Alternative splicing, Human Genome, recessive disease, Neurosciences, medicine.disease, NMR, Protein Structure, Tertiary, Brain Disorders, Mice, Inbred C57BL, 030104 developmental biology, HEK293 Cells, Orphan Drug, Spliceosomes, spliceosome, 030217 neurology & neurosurgery, Tertiary, PPIL1

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ef24cf589c2884c763b071aada9b96f
https://eprints.whiterose.ac.uk/168429/1/Neuron_19_01905_R1.pdf

7

Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1

المؤلفون: Katarzyna Szymanska, Karsten Boldt, Clare V. Logan, Matthew Adams, Philip A. Robinson, Marius Ueffing, Elton Zeqiraj, Gabrielle Wheway, Colin A. Johnson

المصدر: eLife. 11

وصف الملف: text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2abe22f457dd61abcdb379d0f65b0db
https://pubmed.ncbi.nlm.nih.gov/35170427

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8

Mutations in GPAA1 , Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

المصدر: The American Journal of Human Genetics. 101:856-865

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Glycosylphosphatidylinositols, Developmental Disabilities, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Seizures, Cerebellum, Report, Genetics, Humans, Missense mutation, Exome, RNA, Messenger, Child, Alleles, Genetics (clinical), Messenger RNA, Epilepsy, Membrane Glycoproteins, biology, Endoplasmic reticulum, C-terminus, Fibroblasts, Molecular biology, Pedigree, Bone Diseases, Metabolic, Membrane glycoproteins, 030104 developmental biology, Child, Preschool, Mutation, RNA splicing, biology.protein, Muscle Hypotonia, Female, Cerebellar atrophy, Atrophy, Acyltransferases, 030217 neurology & neurosurgery

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b503bac115aa23f60b22ac06cc0ddaa
https://doi.org/10.1016/j.ajhg.2017.09.020

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9

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

المؤلفون: Andrew P. Jackson, Martin A M Reijns, Louise S. Bicknell, Žygimantė Tarnauskaitė, Jennie E. Murray, Angela L. Duker, Carol Wise, David Sillence, Michael B. Bober, Clare V. Logan, Deepthi De Silva, David A. Parry, Joseph A. Marsh, Olga Murina

المصدر: Human Mutation
Tarnauskaitė, Ž, Bicknell, L S, Marsh, J A, Murray, J E, Parry, D A, Logan, C V, Bober, M B, de Silva, D C, Duker, A L, Sillence, D, Wise, C, Jackson, A P, Murina, O & Reijns, M A M 2019, ' Biallelic variants in DNA2 cause microcephalic primordial dwarfism ', Human Mutation, vol. 40, no. 8, pp. 1063-1070 . https://doi.org/10.1002/humu.23776

مصطلحات موضوعية: Male, Models, Molecular, Adolescent, DNA repair, growth, microcephalic primordial dwarfism, Mutation, Missense, Dwarfism, DNA replication, Polymorphism, Single Nucleotide, 03 medical and health sciences, chemistry.chemical_compound, DNA2, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Gene, Alleles, Genetics (clinical), 030304 developmental biology, 0303 health sciences, biology, Brief Report, 030305 genetics & heredity, DNA Helicases, Genetic Variation, Helicase, Middle Aged, medicine.disease, Introns, Mutagenesis, Insertional, chemistry, RNA splicing, Microcephaly, biology.protein, Brief Reports, Female, Primordial dwarfism, Adenosine triphosphate

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed9832e61145ae2176f89f8894dccdf3

View record at Wiley

10

DNA Polymerase epsilon deficiency causes IMAGe Syndrome with variable immunodeficiency

المؤلفون: Clare V, Logan, Jennie E, Murray, David A, Parry, Andrea, Robertson, Roberto, Bellelli, Žygimantė, Tarnauskaitė, Rachel, Challis, Louise, Cleal, Valerie, Borel, Adeline, Fluteau, Javier, Santoyo-Lopez, Tim, Aitman, Inês, Barroso, Donald, Basel, Louise S, Bicknell, Himanshu, Goel, Hao, Hu, Chad, Huff, Michele, Hutchison, Caroline, Joyce, Rachel, Knox, Amy E, Lacroix, Sylvie, Langlois, Shawn, McCandless, Julie, McCarrier, Kay A, Metcalfe, Rose, Morrissey, Nuala, Murphy, Irène, Netchine, Susan M, O'Connell, Ann Haskins, Olney, Nandina, Paria, Jill A, Rosenfeld, Mark, Sherlock, Erin, Syverson, Perrin C, White, Carol, Wise, Yao, Yu, Margaret, Zacharin, Indraneel, Banerjee, Martin, Reijns, Michael B, Bober, Robert K, Semple, Simon J, Boulton, Jonathan J, Rios, Nicola, Williams

المصدر: Logan, C, Murray, J, Parry, D, Robertson, A, Bellelli, R, Tarnauskaite, Z, Challis, R, Cleal, L, Borel, V, Fluteau, A, Santoyo-Lopez, J, SGP Consortium,, Aitman, T, Barroso, I, Basel, D, Bicknell, L, Goel, H, Hu, H, Huff, C, Hutchison, M, Joyce, C, Knox, R, Langlois, S, McCandless, S, McCarrier, J, Morrissey, R, Murphy, N, Netchine, I, O'Connell, S M, Olney, A H, Paria, N, Rosenfeld, J A, Sherlock, M, Syverson, E, White, P, Wise, C, Yu, Y, Zacharin, M, Banerjee, I, Reijns, M, Bober, M B, Semple, R, Boulton, S J, Rios, J J, Jackson, A & Robertson, A 2018, ' DNA Polymerase epsilon deficiency causes IMAGe Syndrome with variable immunodeficiency ', American Journal of Human Genetics, vol. 103, no. 6, pp. 1038-1044 . https://doi.org/10.1016/j.ajhg.2018.10.024
American Journal of Human Genetics

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5251341d775fe05227776575d532ec23
https://hdl.handle.net/20.500.11820/a5b9ba45-d8e4-483e-867c-a0708daa62f5

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