Results 51 to 60 of about 8,373,614 (131)

Exploring the Potential Usefulness of 5-Aminolevulinic Acid for X-Linked Sideroblastic Anemia

Blood, 2014
Abstract (Backgroun d) Congenital sideroblastic anemia (CSA) is an inherited disease; it is a microcytic type of anemia characterized by bone marrow sideroblasts with excess iron deposition in the mitochondria. The most common form of CSA is XLSA (X-linked sideroblastic anemia), which is attributed to mutations in the X-linked gene ALAS2
Tohru Fujiwara, Ryoyu Niikuni, Koji Okamoto, Yoko Okitsu, Noriko Fukuhara, Yasushi Onishi, Kenichi Ishizawa, Ryo Ichinohasama, Yukio Nakamura, Tohru Tanaka, Hideo Harigae   +10 more
openaire   +1 more source

Expanding genetic landscape of inherited bone marrow failure syndromes: Insights from the Canadian Inherited Marrow Failure Registry (CIMFR) (2001–2023)

British Journal of Haematology, Volume 208, Issue 4, Page 1407-1418, April 2026.
Summary Inherited bone marrow failure syndromes (IBMFSs) are genetically heterogeneous with an expanding spectrum of causative genes. Recent molecular advances are thought to have contributed to genetic identification, yet the true gain in diagnostic yield remains unclear.
Ye Jee Shim, Jae Hee Lee, Talya Wittmann Dayagi, Robert J. Klaassen, Yves D. Pastore, Sharon Abish, MacGregor Steele, Catherine Corriveau‐Bourque, Vicky R. Breakey, Roona Sinha, Soumitra Tole, Lisa Goodyear, Josee Brossard, Stephanie Villeneuve, Bruce Crooks, Meera Rayar, Laura Wheaton, Sara Ogle, Michaela Cada, Hongbing Li, Rinu Mathew, Yigal Dror   +21 more
wiley   +1 more source

The phenotypic spectrum of germline YARS2 variants:from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2 [PDF]

, 2018
YARS2 variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for conjugating tyrosine to its cognate mt-tRNA ...
Sieff, Colin A., Tamminga, Rienk, Campagna, DR, Alexander J. Rennings, Annet Simons, Swinkels, D.W., Huls, Gerwin A., Rudinger-Thirion, J, Hale, GA, Sieff, CA, Bottomley, Sylvia, Rienk Y. J. Tamminga, Farah, Roula, Tamminga, RYJ, Mayka Sanchez, Simons, Annet, Riley, Lisa, Arenillas, Leonor, Arenillas, L, Roodenburg, Richard J., Bottomley, SS, Dean R. Campagna, David P. Steensma, Arenillas Rocha, Leonor, Kaplan, Joel A., Janet L. Kwiatkowski, Campagna, Dean, Rodenburg, R.J., Heeney, MM, Frugier, Magali, Bechara, Elie, John Christodoulou, Richard J. Roodenburg, Ahmed, Rasha, Fleming, MD, Tamminga, Rienk Y.J., Kwiatkowski, JL, Mark D. Fleming, Kleefstra, Tjitske, Abboud, M, Fleming, Mark D., Roodenburg, Richard, Abboud, Miguel, Ahmed, R, Hilliard, Lee M., Joel A. Kaplan, Sieff, Colin, Kaplan, Joel, Kaplan, JA, Rudinger-Thirion, Joelle, Matthew M. Heeney, Schaap, Nicolaas, Riley, Lisa G., Swinkels, DW, Huls, Gerwin, Bechara, E, Heeney, Matthew, Abboud, Miguel Raul, Zhou, R, Christodoulou, John, Miguel Abboud, Hilliard, Lee, Roula Farah, Rennings, Alexander J., Campagna, Dean R., Fita-Torró, J, Josep Fita-Torró, Sanchez, Mayka, Schaap, N.P., Zhou, Ronghao, Steensma, David, Farah, R, Heeney, Matthew M., Riley, LG, Lisa G. Riley, Hale, Gregory A., Sánchez, M. J., Rasha Ahmed, Gregory A. Hale, Bechara, Elie A., Elie Bechara, Fita-Torro, Josep, Tjitske Kleefstra, Farah, Roula A., Rennings, Alexander, Bottomley, Sylvia S., Steensma, DP, Colin A. Sieff, Sanchez, M, Nicolaas Schaap, Rennings, Alexander Johannes Maria, Kleefstra, T, Joëlle Rudinger-Thirion, Roodenburg, RJ, Fleming, Mark, Frugier, M, Swinkels, Dorine W., Rennings, AJ, Magali Frugier, Swinkels, Dorine, Christodoulou, J, Huls, G, Leonor Arenillas, Tamminga, Rienk Y. J., Schaap, N, Kwiatkowski, Janet, Ronghao Zhou, Schaap, Nicolaas P.M., Simons, A., Simons, A, Sylvia S. Bottomley, Lee M. Hilliard, Hilliard, LM, Dorine W. Swinkels, Steensma, David P., Kleefstra, T., Gerwin Huls, Kwiatkowski, Janet L., Hale, Gregory, A.   +118 more
core   +1 more source

Erythropoiesis in health and disease: Distinguishing defective and ineffective erythropoiesis

HemaSphere, Volume 10, Issue 1, January 2026.
Abstract Erythropoiesis is a finely regulated process ensuring continuous red blood cell production to maintain oxygen delivery. Disruptions in this process give rise to defective erythropoiesis, characterized by impaired lineage commitment and progenitor development, and ineffective erythropoiesis (IE), marked by expansion of erythroid progenitors ...
Sara El Hoss, Maria A. Lizarralde‐Iragorri, Thiago Trovati Maciel, Olivier Hermine   +3 more
wiley   +1 more source

Case Report: A Previously Healthy Young Woman With Lethal, Unremitting Metabolic Acidosis: Could a Novel Variant in ALAS2 Be the Culprit?

Case Reports in Pathology, Volume 2026, Issue 1, 2026.
Background Heme synthesis is critical for several biological processes, including mitochondrial energy production and oxygen delivery via hemoglobin. The initial and rate‐limiting step in heme synthesis is the conjugation of glycine with succinyl‐CoA to form 5‐aminolevulinic acid (ALA), which is catalyzed by two closely related enzymes that are coded ...
Greg Brown, Stephen Brown, Suraiya Saleem   +2 more
wiley   +1 more source

Severe isoniazid related sideroblastic anemia [PDF]

, 2011
Isoniazid induced sideroblastic anemia is a rare event. We report case of a 45 year old Caucasian women with development of severe anaemia 4 month after introduction of Isoniazid as part of Tuberculosis treatment.
Kveti Kriz, Marie-Claire Desax, Rein Jan Piso   +2 more
core   +1 more source

Heavy Metal Contamination in Chocolates and Candies: Sources, Health Risks, and Analytical Insights

Journal of Chemistry, Volume 2026, Issue 1, 2026.
The presence of heavy metals in chocolates and candies poses growing public health concerns, particularly for children who are frequent consumers. This review consolidates evidence on the occurrence, sources, toxicological impacts, and analytical monitoring of metals, including Pb, Cd, Hg, As, Cr, Ni, and Al, in confectionery products.
Mahmood Ahmed, Maryam, Ali Abbas Aslam, Fatima Aftab, Ahmad Saeed, Mudassar Sanaullah, Muhammad Hassan, Riaz Hussain, Eisha Eiman, Masooma Irfan, Muhammad Yaseen, Muhammad Zaeem Mehdi, Sohini Basu Roy   +12 more
wiley   +1 more source

Removal of Toxic Metabolites—Chelation: Manganese Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Manganese (Mn) overload is a characteristic of multiple disease entities, from acquired manganism upon environmental or occupational overexposure, to end‐stage liver disease and certain genetic disorders. The latter include hypermanganesaemia with dystonia 1 and 2 caused by pathogenic variants in the genes encoding the Mn transporters SLC30A10
Hendrik Vogt, George E. Kostakis, Rupert Purchase, John Spencer, Karin Tuschl   +4 more
wiley   +1 more source

Mitochondrial Diseases: Molecular Pathogenesis and Therapeutic Advances

MedComm, Volume 6, Issue 9, September 2025.
Key pathogenic mechanisms—OXPHOS defects, heteroplasmy, impaired mtDNA repair, disrupted dynamics/mitophagy, and inflammatory signaling—drive multiorgan involvement in mitochondrial diseases. Targeted interventions include metabolic drugs (CoQ10, idebenone, EPI‐743), mitochondrial gene editing (DdCBE, mitoBEs, CyDENT/mitoTALEN/mtZFN), and mitochondrial
Jialun Mei, Peng Ding, Chuan Gao, Jian Zhou, Zhiwei Li, Changqing Zhang, Junjie Gao   +6 more
wiley   +1 more source

Assignment of human erythroid [delta]-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X;Autosome translocations [PDF]

, 1992
The erythroid-specific (ALAS2) and housekeeping (ALAS1) genes encoding [delta]-aminolevulinate synthase have recently been mapped to chromosomes Xq21.1-->q21 and 3p21, respectively. The erythroid-specific gene is a candidate for mutations resulting in
Cotter, Philip D., Bishop, David F., Willard, Huntington F., Gorski, Jerome L.   +3 more
core   +1 more source