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27 results on '"Fawcett, Heather"'

1. Insights from multi-omic modeling of neurodegeneration in xeroderma pigmentosum using an induced pluripotent stem cell system

Author

Badja, Cherif, Momen, Sophie, Koh, Gene Ching Chiek, Boushaki, Soraya, Roumeliotis, Theodoros I., Kozik, Zuza, Jones, Ian, Bousgouni, Vicky, Dias, João M.L., Krokidis, Marios G., Young, Jamie, Chen, Hongwei, Yang, Ming, Docquier, France, Memari, Yasin, Valcarcel-Zimenez, Lorea, Gupta, Komal, Kong, Li Ren, Fawcett, Heather, Robert, Florian, Zhao, Salome, Degasperi, Andrea, Kumar, Yogesh, Davies, Helen, Harris, Rebecca, Frezza, Christian, Chatgilialoglu, Chryssostomos, Sarkany, Robert, Lehmann, Alan, Bakal, Chris, Choudhary, Jyoti, Fassihi, Hiva, and Nik-Zainal, Serena

Published
2024
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5. A rare genetic disorder provides insights into mechanisms of early-onset neurodegeneration

Author

Badja, Cherif, primary, Momen, Sophie, additional, Koh, Gene Ching Cheik, additional, Boushaki, Soraya, additional, Roumeliotis, Theodoros I., additional, Kozik, Zuza, additional, Jones, Ian, additional, Bousgouni, Vicky, additional, Dias, Joao M. L., additional, Krokidis, Marios, additional, Young, Jamie, additional, Chen, Hongwei, additional, Yang, Ming, additional, Docquier, France, additional, Memari, Yasin, additional, Valcarcel-Jimenez, Lorea, additional, Gupta, Komal, additional, Kong, Li Ren, additional, Fawcett, Heather, additional, Robert, Florian, additional, Zhao, Salome, additional, Degasperi, Andrea, additional, Davies, Helen, additional, Harris, Rebecca, additional, Frezza, Christian, additional, Chatgilialoglu, Chryssostomos, additional, Sarkany, Robert, additional, Lehmann, Alan, additional, Bakal, Chris, additional, Choudhary, Jyoti, additional, Fassihi, Hiva, additional, and Nik-Zainal, Serena, additional

Published
2023
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7. Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

Author

Fassihi, Hiva, Sethi, Mieran, Fawcett, Heather, Wing, Jonathan, Chandler, Natalie, Mohammed, Shehla, Craythorne, Emma, S. Morley, Ana M., Lim, Rongxuan, Turner, Sally, Henshaw, Tanya, Garrood, Isabel, Giunti, Paola, Hedderly, Tammy, Abiona, Adesoji, Naik, Harsha, Harrop, Gemma, McGibbon, David, Jaspers, Nicolaas G. J., Botta, Elena, Nardo, Tiziana, Stefanini, Miria, Young, Antony R., Sarkany, Robert P. E., and Lehmann, Alan R.

Published
2016

8. Hypomorphic PCNA mutation underlies a human DNA repair disorder

Author

Baple, Emma L., Chambers, Helen, Cross, Harold E., Fawcett, Heather, Nakazawa, Yuka, Chioza, Barry A., Harlalka, Gaurav V., Mansour, Sahar, Sreekantan-Nair, Ajith, Patton, Michael A., Muggenthaler, Martina, Rich, Phillip, Wagner, Karin, Coblentz, Roselyn, Stein, Constance K., Last, James I., Taylor, A. Malcolm R., Jackson, Andrew P., Ogi, Tomoo, Lehmann, Alan R., Green, Catherine M., and Crosby, Andrew H.

Subjects
Identification and classification, Research, Genetic aspects, Genetic research, Gene mutation -- Identification and classification, Nerve degeneration -- Genetic aspects, DNA repair -- Research, Gene mutations -- Identification and classification, Nervous system -- Degeneration
Abstract

Introduction Maintenance of genomic integrity is fundamentally important for normal cell division and basic cellular biological processes. The molecular characterization of human DNA damage sensitivity disorders, such as ataxia telangiectasia [...], Numerous human disorders, including Cockayne syndrome, UV-sensitive syndrome, xeroderma pigmentosum, and trichothiodystrophy, result from the mutation of genes encoding molecules important for nucleotide excision repair. Here, we describe a syndrome in which the cardinal clinical features include short stature, hearing loss, premature aging, telangiectasia, neurodegeneration, and photosensitivity, resulting from a homozygous missense (p.Ser228Ile) sequence alteration of the proliferating cell nuclear antigen (PCNA). PCNA is a highly conserved sliding clamp protein essential for DNA replication and repair. Due to this fundamental role, mutations in PCNA that profoundly impair protein function would be incompatible with life. Interestingly, while the p.Ser228Ile alteration appeared to have no effect on protein levels or DNA replication, patient cells exhibited marked abnormalities in response to UV irradiation, displaying substantial reductions in both UV survival and RNA synthesis recovery. The p.Ser228Ile change also profoundly altered PCNA's interaction with Flap endonuclease 1 and DNA Ligase 1, DNA metabolism enzymes. Together, our findings detail a mutation of PCNA in humans associated with a neurodegenerative phenotype, displaying clinical and molecular features common to other DNA repair disorders, which we showed to be attributable to a hypomorphic amino acid alteration.

Published
2014
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9. The 'New Oxford English Dictionary' Project.

Author

Fawcett, Heather

Abstract

Describes the conversion of the 22,000-page Oxford English Dictionary to an electronic version incorporating a modified Standard Generalized Markup Language (SGML) syntax. Explains that the database designers chose structured markup because it supports users' data searching needs, allows textual components to be extracted or modified, and allows text to be viewed in various ways. (SR)

Published
1993

12. Failure Is the Foundation.

Author

FAWCETT, HEATHER

Subjects
YOUNG adult fiction, CHILDREN'S books, FAILURE (Psychology), FANTASY fiction, ENCYCLOPEDIAS & dictionaries
Abstract

The article in Writer's Digest discusses the author's journey from a failed children's book proposal to the successful adult fantasy series, Emily Wilde. The author reflects on how what seemed like failures at the time actually laid the foundation for her writing career. By recycling old ideas and learning from past attempts, the author emphasizes the importance of perseverance and seeing failure as a stepping stone to success. The author, Heather Fawcett, shares her experience and offers advice to struggling writers based on her own journey. [Extracted from the article]

Published
2025

13. Molecular analysis of mutations in DNA polymerase [eta] in xeroderma pigmentosum-variant patients

Author

Broughton, Bernard C., Cordonnier, Agnes, Kleijer, Wim J., Jaspers, Nicolaas G. J., Fawcett, Heather, Raams, Anja, Garritsen, Victor H., Stary, Anne, Avril, Marie-Francoise, Boudsocq, Francois, Masutani, Chikahide, Hanaoka, Fumio, Fuchs, Robert P., Sarasin, Alain, and Lehmann, Alan R.

Subjects
DNA polymerases -- Genetic aspects, Gene mutations -- Research, Xeroderma pigmentosum -- Genetic aspects, Cell research -- Analysis, Irradiation -- Physiological aspects, Genetic research -- Analysis, Science and technology
Abstract

Xeroderma pigmentosum variant (XP-V) cells are deficient in their ability to synthesize intact daughter DNA strands after UV irradiation. This deficiency results from mutations in the gene encoding DNA polymerase [eta], which is required for effecting translesion synthesis (TLS) past UV photoproducts. We have developed a simple cellular procedure to identify XP-V cell strains, and have subsequently analyzed the mutations in 21 patients with XP-V. The 16 mutations that we have identified fall into three categories. Many of them result in severe truncations of the protein and are effectively null alleles. However, we have also identified five missense mutations located in the conserved catalytic domain of the protein. Extracts of cells falling into these two categories are defective in the ability to carry out TLS past sites of DNA damage. Three mutations cause truncations at the C terminus such that the catalytic domains are intact, and extracts from these cells are able to carry out TLS. From our previous work, however, we anticipate that protein in these cells will not be localized in the nucleus nor will it be relocalized into replication foci during DNA replication. The spectrum of both missense and truncating mutations is markedly skewed toward the N-terminal half of the protein. Two of the missense mutations are predicted to affect the interaction with DNA, the others are likely to disrupt the three-dimensional structure of the protein. There is a wide variability in clinical features among patients, which is not obviously related to the site or type of mutation.

Published
2002

14. The School Between Winter and Fairyland

Author

Fawcett, Heather and Fawcett, Heather

Abstract

A spell-binding tale of magic, monsters and mystery, set in an enchanted boarding school. Full of suspense and exquisitely written, this is middle-grade fantasy at its best - and most original - for fans of Nevermoor.Twelve-year-old Autumn is a beastkeeper at Inglenook School for Magicians, which she secretly dreams of attending as a student. Instead, she must care for Inglenook's menagerie of dangerous creatures so the king's future monster hunters can study them. But when she isn't mucking out the griffin stalls, Autumn searches for clues about her twin brother's mysterious disappearance. Everyone else thinks that he was devoured by the terrifying Hollow Dragon, but Autumn isn't so sure.Enter Cai Morrigan, the famous young magician prophesied to one day destroy the Hollow Dragon. When Cai comes to Autumn with a secret problem, Autumn agrees to help on one condition: that the'Chosen One'join her quest to find her brother. Together they uncover the dark truth that lies at the heart of Inglenook School - because every school has its secrets…'This book has everything I love about fantasy,tied together with gorgeous writing, vivid visualsand a gutsy, down-to-earth heroine.'Amelia Mellor, author ofThe Grandest Bookshop in the World

Published
2021

20. Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

Author

Calmels, Nadege, primary, Botta, Elena, additional, Jia, Nan, additional, Fawcett, Heather, additional, Nardo, Tiziana, additional, Nakazawa, Yuka, additional, Lanzafame, Manuela, additional, Moriwaki, Shinichi, additional, Sugita, Katsuo, additional, Kubota, Masaya, additional, Obringer, Cathy, additional, Spitz, Marie-Aude, additional, Stefanini, Miria, additional, Laugel, Vincent, additional, Orioli, Donata, additional, Ogi, Tomoo, additional, and Lehmann, Alan Robert, additional

Published
2018
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21. Hypomorphic PCNA mutation underlies a novel human DNA repair disorder

Author

Baple, Emma L, Chambers, Helen, Cross, Harold E, Fawcett, Heather, Nakazawa, Yuka, Chioza, Barry A, Harlalka, Gaurav V, Mansour, Sahar, Sreekantan-Nair, Ajith, Patton, Michael A, Muggenthaler, Martina, Rich, Phillip, Wagner, Karin, Coblentz, Roselyn, Stein, Constance K, Last, James I, Taylor, A Malcolm R, Jackson, Andrew P, Ogi, Tomoo, Lehmann, Alan R, Green, Catherine M, and Crosby, Andrew H

Subjects
RB155.5
Abstract

A number of human disorders, including Cockayne syndrome, UV-sensitive syndrome, xeroderma pigmentosum and trichothiodystrophy, result from the mutation of genes encoding molecules important for nucleotide excision repair. Here, we describe a novel syndrome in which the cardinal clinical features include postnatal growth retardation, hearing loss, premature aging, telangiectasia, neurological signs and photosensitivity, resulting from a homozygous missense (p.Ser228Ile) sequence alteration of the proliferating cell nuclear antigen (PCNA). PCNA is a highly conserved sliding clamp protein essential for DNA replication and repair. Due to this fundamental role, mutations in PCNA that profoundly impair protein function would be incompatible with life. Interestingly, while the p.Ser228Ile alteration appears to have no effect on protein levels or DNA replication, patient cells exhibit significant abnormalities in response to UV irradiation displaying substantial reductions in both UV survival and RNA synthesis recovery. The p.Ser228Ile change also profoundly alters PCNA’s interaction with Flap endonuclease 1 and DNA Ligase 1, DNA metabolism enzymes. Taken together our findings detail the first mutation of PCNA in humans, associated with a unique neurodegenerative disease displaying clinical and molecular features common to other DNA repair disorders, which we show to be attributable to a hypomorphic amino acid alteration.

Published
2014

22. Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia

Author

Kashiyama, Kazuya, Nakazawa, Yuka, Pilz, Daniela T., Guo, Chaowan, Shimada, Mayuko, Sasaki, Kensaku, Fawcett, Heather, Wing, Jonathan F., Lewin, Susan O., Carr, Lucinda, Li, Tao-Sheng, Yoshiura, Koh-ichiro, Utani, Atsushi, Hirano, Akiyoshi, Yamashita, Shunichi, Greenblatt, Danielle, Nardo, Tiziana, Stefanini, Miria, McGibbon, David, Sarkany, Robert, Fassihi, Hiva, Takahashi, Yoshito, Nagayama, Yuji, Mitsutake, Norisato, Lehmann, Alan R., and Ogi, Tomoo

Published
2013
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27. Two individuals with featuresof both xeroderma pigmentosum and trichothiodystrophy highlightthe complexity of the clinical outcomes of mutations in the XPD gene.

Author

Broughton, Bernard C., Berneburg, Mark, Fawcett, Heather, Taylor, ElaineM., Arlett, ColinF., Nardo, Tiziana, Stefanini, Miria, Menefee, Emory, Price, Vera H., Queille, Sophie, Sarasin, Alain, Bohnert, Elisabeth, Krutmann, Jean, Davidson, Rosemarie, Kraemer, Kenneth H., and Lehmann, AlanR.

Published
2001
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