Results 61 to 70 of about 511,787 (144)

SLC25 Family Member Genetic Interactions Identify a Role for HEM25 in Yeast Electron Transport Chain Stability

G3: Genes, Genomes, Genetics, 2017
The SLC25 family member SLC25A38 (Hem25 in yeast) was recently identified as a mitochondrial glycine transporter that provides substrate to initiate heme/hemoglobin synthesis.
J. Noelia Dufay, J. Pedro Fernández-Murray, Christopher R. McMaster   +2 more
doaj   +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

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, Volume 109, Issue 4, Page 717-724, April 2026.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

, 2013
Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders identified by pathological erythroid precursors with perinuclear mitochondrial iron deposition in bone marrow. An international collaborative group of physicians and
Marques, Laura, Major-Cook, N., Kannengiesser, Caroline, Hughes, Stephen, Klaassen, R. J., Bottomley, Sylvia S, Wiseman, D. H., Thuret, Isabelle, Giardina, P. J., Thompson, Alexis A, Heeney, Matthew M, Marques, L., Bonney, D. K., Chakraborty, P., Kannengiesser, C., Klaassen, Robert J, Chakraborty, Pranesh, Fleming, M. D., Thompson, A. A., Bonney, Denise K, Wiseman, Daniel H; id_orcid, Wynn, R. F., Fleming, Mark D, Giardina, Patricia J, May, Alison, Geraghty, Michael T, Powell, Colin, Heeney, M. M., Jolles, Stephen, Connor, Philip, Bottomley, S. S., Wynn, Robert F, Major-Cook, Nathalie, Hughes, S., Geraghty, M. T., Thuret, I.   +35 more
core   +1 more source

Combination Therapy With Proton Pump Inhibitors and Iron Chelators in Hereditary Anaemias With Secondary Iron Overload

eJHaem, Volume 7, Issue 5, October 2026.
Thomas Doeven, Annelies van Vuren, Andreas Glenthøj, Jean Louis Kerkhoffs, Saskia E. M. Schols, Anita Rijneveld, Erfan Nur, Dore Peereboom, Paco Welsing, Roger Schutgens, Bart J. Biemond, Eduard J. van Beers   +11 more
wiley   +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

Zinc-Containing Over-The-Counter Product Causing Sideroblastic Anemia and Neutropenia [PDF]

Sideroblastic anemia is characterized by anemia, granulocytopenia, and bone marrow findings of vacuolated precursors and ringed sideroblasts. Zinc-induced copper deficiency can present as sideroblastic anemia and neutropenia.
Stagg, Marshall Patrick, Majid, Baseera, Polala, Ravali, Miatech, Jennifer   +3 more
core   +1 more source

A novel frameshift deletion in SLC25A38 and its role in mitochondrial dysfunction: A case study of sideroblastic anemia in a child from Iran

Annals of Hematology
Sideroblastic anemia (SA) is a rare hematological condition characterized by the accumulation of iron in the mitochondria of erythroid precursor cells, resulting in the formation of sideroblastic rings. It occurs in both inherited and acquired forms.
Elaheh Hasani, Maryam Naghinejad, Moein Kohkalani, Sima Mansoori Derakhshan, Mahmoud Shekari Khaniani   +4 more
doaj   +1 more source

Double Heterozygous CDAN1 Variants of Uncertain Significance Associated With a Phenotype Consistent With Congenital Dyserythropoietic Anemia Type 1

Case Reports in Hematology, Volume 2026, Issue 1, 2026.
Congenital dyserythropoietic anemia is a group of hereditary disorders characterized by erythroid hyperplasia and ineffective erythropoiesis, resulting in anemia of varying severity. Congenital dyserythropoietic anemia Type 1 (CDA‐1) is classically associated with biallelic mutations in the CDAN1 gene.
Kevin G. Zablonski, Neil A. Lachant, Archibald Perkins, William J. Archibald, Kalyani Sen   +4 more
wiley   +1 more source

A Case Report of Decompensated Cirrhosis of Liver with Sideroblastic Anemia. [PDF]

, 2015
UNLABELLED: A 35-year-old man was admitted to hospital with severe anemia. Two years back, he had presented with bleeding esophageal varices and subsequently diagnosed as a case of chronic liver disease with portal hypertension.
LutfulMubin, A, Rahman, S, Mahtab, M-A, Ahmad Khandokar, F, Mohammad Noor-E-Alam, S, Rahim, A   +5 more
core   +1 more source