Search

Your search keyword '"Baralle, Diana"' showing total 6 results
Start Over Author "Baralle, Diana" Journal nature genetics
6 results on '"Baralle, Diana"'

1. PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

Author

Dingemans, Alexander J. M., Hinne, Max, Truijen, Kim M. G., Goltstein, Lia, van Reeuwijk, Jeroen, de Leeuw, Nicole, Schuurs-Hoeijmakers, Janneke, Pfundt, Rolph, Diets, Illja J., den Hoed, Joery, de Boer, Elke, Coenen-van der Spek, Jet, Jansen, Sandra, van Bon, Bregje W., Jonis, Noraly, Ockeloen, Charlotte W., Vulto-van Silfhout, Anneke T., Kleefstra, Tjitske, Koolen, David A., Campeau, Philippe M., Palmer, Elizabeth E., Van Esch, Hilde, Lyon, Gholson J., Alkuraya, Fowzan S., Rauch, Anita, Marom, Ronit, Baralle, Diana, van der Sluijs, Pleuntje J., Santen, Gijs W. E., Kooy, R. Frank, van Gerven, Marcel A. J., Vissers, Lisenka E. L. M., and de Vries, Bert B. A.

Published
2023
Full Text
View/download PDF

2. A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection

Author

Blume, Cornelia, Jackson, Claire L., Spalluto, Cosma Mirella, Legebeke, Jelmer, Nazlamova, Liliya, Conforti, Franco, Perotin, Jeanne-Marie, Frank, Martin, Butler, John, Crispin, Max, Coles, Janice, Thompson, James, Ridley, Robert A., Dean, Lareb S. N., Loxham, Matthew, Reikine, Stephanie, Azim, Adnan, Tariq, Kamran, Johnston, David A., Skipp, Paul J., Djukanovic, Ratko, Baralle, Diana, McCormick, Christopher J., Davies, Donna E., Lucas, Jane S., Wheway, Gabrielle, and Mennella, Vito

Published
2021
Full Text
View/download PDF

3. A novel ACE2isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection

Author

Blume, Cornelia, Jackson, Claire L., Spalluto, Cosma Mirella, Legebeke, Jelmer, Nazlamova, Liliya, Conforti, Franco, Perotin, Jeanne-Marie, Frank, Martin, Butler, John, Crispin, Max, Coles, Janice, Thompson, James, Ridley, Robert A., Dean, Lareb S. N., Loxham, Matthew, Reikine, Stephanie, Azim, Adnan, Tariq, Kamran, Johnston, David A., Skipp, Paul J., Djukanovic, Ratko, Baralle, Diana, McCormick, Christopher J., Davies, Donna E., Lucas, Jane S., Wheway, Gabrielle, and Mennella, Vito

Abstract

Angiotensin-converting enzyme 2 (ACE2) is the main entry point in airway epithelial cells for SARS-CoV-2. ACE2 binding to the SARS-CoV-2 protein spike triggers viral fusion with the cell plasma membrane, resulting in viral RNA genome delivery into the host. Despite ACE2’s critical role in SARS-CoV-2 infection, full understanding of ACE2 expression, including in response to viral infection, remains unclear. ACE2was thought to encode five transcripts and one protein of 805 amino acids. In the present study, we identify a novel short isoform of ACE2expressed in the airway epithelium, the main site of SARS-CoV-2 infection. Short ACE2is substantially upregulated in response to interferon stimulation and rhinovirus infection, but not SARS-CoV-2 infection. This short isoform lacks SARS-CoV-2 spike high-affinity binding sites and, altogether, our data are consistent with a model where short ACE2is unlikely to directly contribute to host susceptibility to SARS-CoV-2 infection.

Published
2021
Full Text
View/download PDF

4. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

Author

Bond, Jacquelyn, primary, Roberts, Emma, additional, Springell, Kelly, additional, Lizarraga, Sophia, additional, Scott, Sheila, additional, Higgins, Julie, additional, Hampshire, Daniel J, additional, Morrison, Ewan E, additional, Leal, Gabriella F, additional, Silva, Elias O, additional, Costa, Suzana M R, additional, Baralle, Diana, additional, Raponi, Michela, additional, Karbani, Gulshan, additional, Rashid, Yasmin, additional, Jafri, Hussain, additional, Bennett, Christopher, additional, Corry, Peter, additional, Walsh, Christopher A, additional, and Woods, C Geoffrey, additional

Published
2005
Full Text
View/download PDF

5. Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

Author

Tatton-Brown, Katrina, Seal, Sheila, Ruark, Elise, Harmer, Jenny, Ramsay, Emma, del Vecchio Duarte, Silvana, Zachariou, Anna, Hanks, Sandra, O'Brien, Eleanor, Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Gener, Blanca, Goudie, David, Homfray, Tessa, Kumar, Ajith, Pilz, Daniela T, Selicorni, Angelo, Temple, I Karen, and Van Maldergem, Lionel

Subjects
GROWTH disorders, DNA methyltransferases, GENETIC mutation, FACIAL abnormalities, ACUTE myeloid leukemia, HEMATOLOGIC malignancies
Abstract

Overgrowth disorders are a heterogeneous group of conditions characterized by increased growth parameters and other variable clinical features such as intellectual disability and facial dysmorphism. To identify new causes of human overgrowth, we performed exome sequencing in ten proband-parent trios and detected two de novo DNMT3A mutations. We identified 11 additional de novo mutations by sequencing DNMT3A in a further 142 individuals with overgrowth. The mutations alter residues in functional DNMT3A domains, and protein modeling suggests that they interfere with domain-domain interactions and histone binding. Similar mutations were not present in 1,000 UK population controls (13/152 cases versus 0/1,000 controls; P < 0.0001). Mutation carriers had a distinctive facial appearance, intellectual disability and greater height. DNMT3A encodes a DNA methyltransferase essential for establishing methylation during embryogenesis and is commonly somatically mutated in acute myeloid leukemia. Thus, DNMT3A joins an emerging group of epigenetic DNA- and histone-modifying genes associated with both developmental growth disorders and hematological malignancies. [ABSTRACT FROM AUTHOR]

Published
2014
Full Text
View/download PDF

6. Corrigendum: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

Author

Tatton-Brown, Katrina, Seal, Sheila, Ruark, Elise, Harmer, Jenny, Ramsay, Emma, del Vecchio Duarte, Silvana, Zachariou, Anna, Hanks, Sandra, O'Brien, Eleanor, Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Gener, Blanca, Goudie, David, Homfray, Tessa, Kumar, Ajith, Pilz, Daniela T, Selicorni, Angelo, Temple, I Karen, and Van Maldergem, Lionel

Subjects
GENES, GENOMES
Abstract

A correction to an article on DNA methyltransferase gene published in a previous issue of the journal is presented.

Published
2014
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results