Search Results - "BOTTOMLEY, S. S"

Towards the treatment of polyglutamine diseases: the modulatory role of protein context by Robertson, A L, Bottomley, S P

“…Protein aggregation is a key mechanism involved in neurodegeneration associated with Alzheimer's, Parkinson's and Huntington's diseases. Nine diseases…”
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Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia by Bottomley, Sylvia S, Campagna, Dean R, Matsuoka, Makoto, Guernsey, Duane L, Rideout, Andrea, Dyack, Sarah, Samuels, Mark E, Kellogg, Mark D, Schmidt, Paul J, Nightingale, Mathew, Jiang, Haiyan, Ludman, Mark, Saint-Amant, Louis, Lachance, Mathieu, Ferguson, Meghan, Fernandez, Conrad V, Evans, Susan C, Fleming, Mark D, Orr, Andrew

“…The sideroblastic anemias are a heterogeneous group of congenital and acquired hematological disorders whose morphological hallmark is the presence of ringed…”
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A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) by Wiseman, Daniel H., May, Alison, Jolles, Stephen, Connor, Philip, Powell, Colin, Heeney, Matthew M., Giardina, Patricia J., Klaassen, Robert J., Chakraborty, Pranesh, Geraghty, Michael T., Major-Cook, Nathalie, Kannengiesser, Caroline, Thuret, Isabelle, Thompson, Alexis A., Marques, Laura, Hughes, Stephen, Bonney, Denise K., Bottomley, Sylvia S., Fleming, Mark D., Wynn, Robert F.

“…Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders identified by pathological erythroid precursors with perinuclear…”
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A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia by Lichtenstein, Daniel A., Crispin, Andrew W., Sendamarai, Anoop K., Campagna, Dean R., Schmitz-Abe, Klaus, Sousa, Cristovao M., Kafina, Martin D., Schmidt, Paul J., Niemeyer, Charlotte M., Porter, John, May, Alison, Patnaik, Mrinal M., Heeney, Matthew M., Kimmelman, Alec, Bottomley, Sylvia S., Paw, Barry H., Markianos, Kyriacos, Fleming, Mark D.

“…The congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited blood disorders characterized by pathological mitochondrial iron deposition…”
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Cost-effectiveness of routine imaging of suspected appendicitis by D'Souza, N, Marsden, M, Bottomley, S, Nagarajah, N, Scutt, F, Toh, S

“…Introduction The misdiagnosis of appendicitis and consequent removal of a normal appendix occurs in one in five patients in the UK. On the contrary, in…”
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Distinguishing the meaning making processes of survivors of suicide loss: An expansion of the meaning of loss codebook by Bottomley, Jamison S., Smigelsky, Melissa A., Bellet, Benjamin W., Flynn, Lauren, Price, Justin, Neimeyer, Robert A.

“…Suicide loss represents particularly a difficult form of bereavement due to the challenges that volitional death poses to survivors. Understanding these…”
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Systematic molecular genetic analysis of congenital sideroblastic anemia: Evidence for genetic heterogeneity and identification of novel mutations by Bergmann, Anke K., Campagna, Dean R., McLoughlin, Erin M., Agarwal, Suneet, Fleming, Mark D., Bottomley, Sylvia S., Neufeld, Ellis J.

“…Background Sideroblastic anemias are heterogeneous congenital and acquired bone marrow disorders characterized by pathologic iron deposits in mitochondria of…”
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Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity by Berhe, Simon, Heeney, Matthew M, Campagna, Dean R, Thompson, John F, White, Eric J, Ross, Tristen, Peake, Roy Wa, Hanrahan, Jeffery D, Rodriguez, Vilmarie, Renaud, Deborah L, Patnaik, Mrinal S, Chang, Eugenia, Bottomley, Sylvia S, Fleming, Mark D

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X‐linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA‐binding site mutations by Campagna, Dean R., Bie, Charlotte I., Schmitz‐Abe, Klaus, Sweeney, Marion, Sendamarai, Anoop K., Schmidt, Paul J., Heeney, Matthew M., Yntema, Helger G., Kannengiesser, Caroline, Grandchamp, Bernard, Niemeyer, Charlotte M., Knoers, Nine V.A.M., Swart, Sonia, Marron, Gordon, Wijk, Richard, Raymakers, Reinier A., May, Alison, Markianos, Kyriacos, Bottomley, Sylvia S., Swinkels, Dorine W., Fleming, Mark D.

“…X‐linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia. In affected males, it is uniformly associated with partial…”
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CNS demyelination associated with copper deficiency and hyperzincemia by PRODAN, C. I, HOLLAND, N. R, WISDOM, P. J, BURSTEIN, S. A, BOTTOMLEY, S. S

“…CNS demyelination is not a previously reported feature of acquired copper deficiency. The authors report two patients with idiopathic hypocupremia and…”
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Relapsing hypocupraemic myelopathy requiring high-dose oral copper replacement by Prodan, C I, Bottomley, S S, Holland, N R, Lind, S E

“…Adult-onset copper deficiency with neurological manifestations is a newly recognised syndrome. Long-term oral copper replacement therapy has been the mainstay…”
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Bereavement in the Aftermath of Suicide, Overdose, and Sudden-Natural Death: Evaluating a New Measure of Needs by Bottomley, Jamison S., Smigelsky, Melissa A.

“…Bereavement has been associated with a number of adverse outcomes, including mortality, particularly among those who experience the sudden loss of a close…”
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Engineered bacterial lipoate protein ligase A (lplA) restores lipoylation in cell models of lipoylation deficiency by Bick, Nolan, Dreishpoon, Margaret, Perry, Ava, Rogachevskaya, Anna, Bottomley, Sylvia S., Fleming, Mark D., Ducamp, Sarah, Tsvetkov, Peter

“…Protein lipoylation, a vital lysine posttranslational modification (PTM), plays a crucial role in the function of key mitochondrial TCA cycle enzymatic…”
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Sideroblastic anemia: diagnosis and management by Bottomley, Sylvia S, Fleming, Mark D

“…Sideroblastic anemias (SAs) may be acquired or congenital and share the features of disrupted utilization of iron in the erythroblast, ineffective…”
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Examining bereavement‐related needs and outcomes among survivors of sudden loss: A latent profile analysis by Bottomley, Jamison S., Campbell, Kevin W., Neimeyer, Robert A.

“…Objective Recognizing important bereavement‐related needs among sudden loss survivors (e.g., suicide, overdose)—a population that is burgeoning and at risk for…”
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Exploring the mental health correlates of overdose loss by Bottomley, Jamison S., Feigelman, William T., Rheingold, Alyssa A.

“…Despite the exorbitant rise in overdose‐related deaths, little is known about the mental health burden associated with this form of loss. Using validated…”
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A concurrent examination of protective factors associated with resilience and posttraumatic growth following childhood victimization by Schaefer, Lauren M., Howell, Kathryn H., Schwartz, Laura E., Bottomley, Jamison S., Crossnine, Candice B.

“…The present study concurrently examined protective factors associated with the adaptive outcomes of resilience and posttraumatic growth (PTG; defined as…”
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Examining grieving problem correlates of anticipation of the death vs. shock among overdose death and suicide bereaved adults by Feigelman, William, Bottomley, Jamison S., Titlestad, Kristine B.

“…We conducted an online survey with individuals bereaved by drug deaths (n = 115), suicide (n = 185) and sudden natural deaths (n = 103), including questions…”
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Grief memoirs: The familiarity of helping professionals with the genre and its potential incorporation into grief therapy by Małecka, Katarzyna A., Bottomley, Jamison S.

“…The grief memoir is a fast-developing genre that in recent decades has become a popular form of public mourning and self-therapy in many Western cultures,…”
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Identification and Characterization of a Misfolded Monomeric Serpin Formed at Physiological Temperature by Pearce, M.C., Powers, G.A., Feil, S.C., Hansen, G., Parker, M.W., Bottomley, S.P.

“…The native serpin state is kinetically trapped. However, under mildly destabilizing conditions, the conformational landscape changes, and a number of nonnative…”
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