Results 41 to 50 of about 3,458 (193)

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

SIDEROBLASTIC ANEMIA DIAGNOSIS AND MANAGEMENT

, 2018
Introduction: Sideroblastic anemia (SA), when defined 5 decades ago, was already recognized to occur in heterogeneous settings, including as familial or acquired disease.
Riyad Mohammed AlHajji , Nof Saadi Algarni , Jumanah Mohammad Bondagji , Hanan Bakhait Alghamdi , Salma Mosa Kamli , Asma Saad Al Ahmari , Ahmed Jameel Alyamani , Waleed Ali Althobaiti , Fatmah Mohsen Alhejji , Eidah Mohammed AL Ahmari , Abdullah Mohammed Alrajeh
core   +1 more source

Sideroblastic Anemia - 2

, 2014
A peripheral blood smear picture showing a dimorphic RBC population and tear cells in sideroblastic ...
Fraser, Marion
core   +1 more source

Sideroblastic Anemia -1

, 2014
An image from a peripheral blood smear showing numerous tear cells in sideroblastic ...
Fraser, Marion
core   +1 more source

Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up

Molecular Genetics and Metabolism Reports, 2019
Mitochondrial myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1) is a rare disease caused by biallelic pathogenic variants in the PUS1 gene. There are eleven MLASA1 patients reported worldwide with the majority of the patients originating from
Jeremy Woods, Stephen Cederbaum
doaj   +1 more source

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations [PDF]

, 2014
X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia. In affected males, it is uniformly associated with partial loss-of-function missense mutations in the erythroid-specific heme biosynthesis protein 5 ...
van Wijk, Richard, Bottomley, Syliva S., Anoop K. Sendamarai, Fleming, M.D., Raymakers, R.A.P., Klaus Schmitz‐Abe, Swinkels, Dorine W, Sendamarai, Anoop K, Campagna, Dean R, Caroline Kannengiesser, de Bie, Charlotte I, Swinkels, D.W., Campagna, Dean R., Swart, S., Knoers, Nine V A M, Nine V.A.M. Knoers, Heeney, Matthew M., Raymakers, Reinier A., Schmitz-Abe, K., Schmidt, P.J., Sonia Swart, de Bie, Charlotte I., Charlotte M. Niemeyer, Yntema, Helger G, Alison May, Gordon Marron, Dean R. Campagna, Bottomley, Sylvia S., Sendamarai, A.K., Niemeyer, Charlotte Marie, Niemeyer, Charlotte M, Campagna, D.R., Schmidt, Paul J., Markianos, K., Kyriacos Markianos, Kannengiesser, Caroline, Markianos, Kyriacos, May, A., Bernard Grandchamp, Heeney, M.M., Bottomley, Sylvia S, Bie, C.I. De, Niemeyer, C.M., Grandchamp, Bernard, Swinkels, Dorine W., Heeney, Matthew M, Reinier A. Raymakers, Helger G. Yntema, Bottomley, S.S., Sweeney, Marion Carol, Bie, Charlotte I. de, Knoers, N.V.A.M., Paul J. Schmidt, Marron, G., Charlotte I. de Bie, Sweeney, M., Raymakers, Reinier A, Mark D. Fleming, Kannengiesser, C., Marron, Gordon, Swart, Sonia, Fleming, Mark D., Yntema, Helger G., Niemeyer, Charlotte M., Knoers, Nine V. A. M., Sendamarai, Anoop K., Fleming, Mark D, May, Alison, Sylvia S. Bottomley, Wijk, R. van, Marion Sweeney, Dorine W. Swinkels, Schmitz-Abe, Klaus, Schmidt, Paul J, Matthew M. Heeney, Sweeney, Marion, Richard van Wijk, Grandchamp, B., Yntema, H.G.   +78 more
core   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder

Frontiers in Pediatrics, 2023
The TRNT1 gene encodes tRNA nucleotidyltransferase 1, which catalyzes the addition of cytosine-cytosine-adenosine (CCA) to the ends of cytoplasmic and mitochondrial tRNAs.
Cui-Jie Wei, Yi-Dan Liu, Yan-Ling Yang, Yuan Wu, Jie-Yu Liu, Xing-Zhi Chang, Ying Hua, Yu-He Liu, Hui Xiong   +8 more
doaj   +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

Exploring the mechanistic link between SF3B1 mutation and ring sideroblast formation in myelodysplastic syndrome

Scientific Reports, 2022
Acquired sideroblastic anemia, characterized by bone marrow ring sideroblasts (RS), is predominantly associated with myelodysplastic syndrome (MDS). Although somatic mutations in splicing factor 3b subunit 1 (SF3B1), which is involved in the RNA splicing
Tetsuro Ochi, Tohru Fujiwara, Koya Ono, Chie Suzuki, Maika Nikaido, Daichi Inoue, Hiroki Kato, Koichi Onodera, Satoshi Ichikawa, Noriko Fukuhara, Yasushi Onishi, Hisayuki Yokoyama, Yukio Nakamura, Hideo Harigae   +13 more
doaj   +1 more source