Results 41 to 50 of about 5,388 (203)

Clinical studies on iron metabolism of erythroblasts in preleukemic stage [PDF]

, 1974
The appearance of sideroblasts in hypoplastic anemia (HAl and acute myelocytic leukemia (AML), together with their sideroblastograms, was studied. Hematological studies on cases with type III sideroblast dominance by sideroblastograms produced the ...
Kimura, Ikuro, Sugiyama, Motoharu, Takahashi, lsao   +2 more
core   +1 more source

Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia

Haematologica, 2011
Background Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a syndrome.
Caroline Kannengiesser, Mayka Sanchez, Marion Sweeney, Gilles Hetet, Briedgeen Kerr, Erica Moran, Jose L. Fuster Soler, Karim Maloum, Thomas Matthes, Caroline Oudot, Axelle Lascaux, Corinne Pondarré, Julian Sevilla Navarro, Sudharma Vidyatilake, Carole Beaumont, Bernard Grandchamp, Alison May   +16 more
doaj   +1 more source

Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria [PDF]

, 2017
Loss-of-function mutations in genes for heme biosynthetic enzymes can give rise to congenital porphyrias, eight forms of which have been described. The genetic penetrance of the porphyrias is clinically variable, underscoring the role of additional ...
Baker, Tania, Bergonia, Hector A., Ducamp, Sarah, Gouya, Laurent, Kafina, Martin D., Kannengiesser, Caroline, Kardon, Julia R., Karim, Zoubida, Manceau, Hana, Nicolas, Gaël, Paw, Barry H., Phillips, John D., Puy, Hervé, van der Vorm, Lisa N., Yien, Yvette Y.   +14 more
core   +3 more sources

Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia

Haematologica, 2014
Erythroid-specific 5-aminolevulinate synthase (ALAS2) is the rate-limiting enzyme for heme biosynthesis in erythroid cells, and a missense mutation of the ALAS2 gene is associated with congenital sideroblastic anemia.
Kiriko Kaneko, Kazumichi Furuyama, Tohru Fujiwara, Ryoji Kobayashi, Hiroyuki Ishida, Hideo Harigae, Shigeki Shibahara   +6 more
doaj   +1 more source

Congenital sideroblastic anemia associated with B cell immunodeficiency, periodic fevers, and developmental delay: A case report and review of mucocutaneous features

SAGE Open Medical Case Reports, 2019
This is a 40-year-old woman with sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay syndrome, who has genital and extragenital lichen sclerosus on the abdomen and the upper back that have become erythematous and ...
Abdulhadi Jfri, Therese El-Helou, Kevin A. Watters, Annie Bélisle, Ivan V. Litvinov, Elena Netchiporouk   +5 more
doaj   +1 more source

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors [PDF]

, 2018
OBJECTIVES: To characterise the clinical features, immune manifestations and molecular mechanisms in a recently described autoinflammatory disease caused by mutations in TRNT1, a tRNA processing enzyme, and to explore the use of cytokine inhibitors in ...
et al, Giannelou, Angeliki, Pachlopnik, Jana M, Prader, Seraina   +3 more
core   +1 more source

Kearns-Sayre's syndrome developing in a boy who survived Pearson's syndrome caused by mitochondrial DNA deletion [PDF]

, 1992
Documenta Ophthalmologica 1992, Volume 82, Issue 1-2, pp 73-79 Kearns-Sayre's syndrome developing in a boy who survived Pearson's syndrome caused by mitochondrial DNA deletion Dr H. J. Simonsz, K. Bärlocher, A.
A Rötig, A. R�tig, CT Moraes, H. J. Simonsz, HA Pearson, IJ Holt, J Palca, K. B�rlocher   +7 more
core   +8 more sources

Zinc containing dental fixative causing copper deficiency myelopathy [PDF]

, 2017
A 62-year-old male, previously well, was referred to neurology clinic following 6 months history of worsening lower limbs instability, paraesthesia, pain and weakness rendering him housebound.
Abdul-Rahim, Azmil H., Carroll, Liam Stuart, Murray, Rosanne   +2 more
core   +1 more source

No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases

European Journal of Immunology, Volume 56, Issue 4, April 2026.
Investigation of IFN signaling in cultured skin fibroblasts from patients with genetically confirmed mitochondrial diseases of diverse origins revealed that altered IFN signaling is an inconsistent feature of these disorders. Cytosolic accumulation of mtDNA and mtRNA was variably detected and showed little correlation with ISG scores.
Manon Marchais, Alessandra Pennisi, Alexandre Pierga, Alice Lepelley, Nicolas Cagnard, Christine Bole, Patrick Nitschke, Mohamed Hamici, Frédéric Rieux‐Laucat, Manuel Schiff, Arnold Munnich, Agnès Rötig   +11 more
wiley   +1 more source

HSCB, a co-chaperone in mitochondrial iron-sulfur cluster biogenesis, is a novel candidate gene for congenital sideroblastic anemia [PDF]

, 2017
Congenital sideroblastic anemias (CSA) are inherited diseases resulting from defects in heme biosynthesis, mitochondrial iron-sulfur cluster (ISC) assembly, or mitochondrial translation.
Crispin, Andrew
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