Search Results - "Pillay, Bethany A."

Distinct redox regulation in sub-cellular compartments in response to various stress conditions in Saccharomyces cerevisiae by Ayer, Anita, Sanwald, Julia, Pillay, Bethany A, Meyer, Andreas J, Perrone, Gabriel G, Dawes, Ian W

“…Responses to many growth and stress conditions are assumed to act via changes to the cellular redox status. However, direct measurement of pH-adjusted redox…”
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Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8 by Tangye, Stuart G., Gray, Paul E., Pillay, Bethany A., Yap, Jin Yan, Figgett, William A., Reeves, John, Kummerfeld, Sarah K., Stoddard, Jennifer, Uzel, Gulbu, Jing, Huie, Su, Helen C., Campbell, Dianne E., Sullivan, Anna, Burnett, Leslie, Peake, Jane, Ma, Cindy S.

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Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome by Riestra, Maria Rodrigo, Pillay, Bethany A., Willemsen, Mathijs, Kienapfel, Verena, Ehlers, Lisa, Delafontaine, Selket, Pinton, Antoine, Wouters, Marjon, Hombrouck, Anneleen, Sauer, Kate, Bossuyt, Xavier, Voet, Arnout, Soenen, Stefaan J., Conde, Cecilia Dominguez, Bucciol, Giorgia, Boztug, Kaan, Humblet-Baron, Stephanie, Touzart, Aurore, Rieux-Laucat, Frédéric, Notarangelo, Luigi D., Moens, Leen, Meyts, Isabelle

“…The DNA polymerase δ complex (PolD), comprising catalytic subunit POLD1 and accessory subunits POLD2, POLD3, and POLD4, is essential for DNA synthesis and is…”
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Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency by Pillay, Bethany A, Fusaro, Mathieu, Gray, Paul E, Statham, Aaron L, Burnett, Leslie, Bezrodnik, Liliana, Kane, Alisa, Tong, Winnie, Abdo, Chrystelle, Winter, Sarah, Chevalier, Samuel, Levy, Romain, Masson, Cécile, Schmitt, Yohann, Bole, Christine, Malphettes, Marion, Macintyre, Elizabeth, De Villartay, Jean-Pierre, Ziegler, John B, Smart, Joanne M, Peake, Jane, Aghamohammadi, Asghar, Hammarström, Lennart, Abolhassani, Hassan, Picard, Capucine, Fischer, Alain, Latour, Sylvain, Neven, Benedicte, Tangye, Stuart G, Ma, Cindy S

“…Inborn errors of immunity cause monogenic immune dysregulatory conditions such as severe and recurrent pathogen infection, inflammation, allergy, and…”
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Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8 by Tangye, Stuart G., Gray, Paul E., Pillay, Bethany A., Yap, Jin Yan, Figgett, William A., Reeves, John, Kummerfeld, Sarah K., Stoddard, Jennifer, Uzel, Gulbu, Jing, Huie, Su, Helen C., Campbell, Dianne E., Sullivan, Anna, Burnett, Leslie, Peake, Jane, Ma, Cindy S.

“…Rare, biallelic loss-of-function mutations in DOCK8 result in a combined immune deficiency characterized by severe and recurrent cutaneous infections, eczema,…”
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Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients by Pillay, Bethany A, Avery, Danielle T, Smart, Joanne M, Cole, Theresa, Choo, Sharon, Chan, Damien, Gray, Paul E, Frith, Katie, Mitchell, Richard, Phan, Tri Giang, Wong, Melanie, Campbell, Dianne E, Hsu, Peter, Ziegler, John B, Peake, Jane, Alvaro, Frank, Picard, Capucine, Bustamante, Jacinta, Neven, Benedicte, Cant, Andrew J, Uzel, Gulbu, Arkwright, Peter D, Casanova, Jean-Laurent, Su, Helen C, Freeman, Alexandra F, Shah, Nirali, Hickstein, Dennis D, Tangye, Stuart G, Ma, Cindy S

“…Bi-allelic inactivating mutations in DOCK8 cause a combined immunodeficiency characterised by severe pathogen infections, eczema, allergies, malignancy and…”
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Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency by Pillay, Bethany A, Fusaro, Mathieu, Gray, Paul E, Statham, Aaron L, Burnett, Leslie, Bezrodnik, Liliana, Kane, Alisa, Tong, Winnie, Abdo, Chrystelle, Winter, Sarah, Chevalier, Samuel, Levy, Romain, Masson, Cécile, Schmitt, Yohann, Bole, Christine, Malphettes, Marion, Macintyre, Elizabeth, De, Jean-Pierre, Ziegler, John B, Smart, Joanne M, Peake, Jane, Aghamohammadi, Asghar, Hammarström, Lennart, Abolhassani, Hassan, Picard, Capucine, Fischer, Alain, Latour, Sylvain, Neven, Benedicte, Tangye, Stuart G, Ma, Cindy S

“…Inborn errors of immunity cause monogenic immune dysregulatory conditions such as severe and recurrent pathogen infection, inflammation, allergy, and…”
Get full text

Distinct Redox Regulation in Sub-Cellular Compartments in Response to Various Stress Conditions in Saccharomyces cerevisiae. e65240 by Ayer, Anita, Sanwald, Julia, Pillay, Bethany A, Meyer, Andreas J, Perrone, Gabriel G, Dawes, Ian W

“…Responses to many growth and stress conditions are assumed to act via changes to the cellular redox status. However, direct measurement of pH-adjusted redox…”
Get full text