Results 71 to 80 of about 324,192 (243)

Highly efficient gene editing and single cell analysis of hematopoietic stem/progenitor cells from X-linked sideroblastic anemia patients

Signal Transduction and Targeted Therapy, 2021
Dear Editor, X-linked sideroblastic anemia (XLSA), which is the most common genetic form of congenital sideroblastic anemia, is typically characterized by reduced heme synthesis and the presence of bone marrow (BM) ring sideroblasts containing pathologic
Riguo Fang, Jingliao Zhang, Huihui Yang, Jia Shi, Huimin Zeng, Xiaofan Zhu, Dong Wei, Pengfei Yuan, T. Cheng, Yingchi Zhang   +9 more
semanticscholar   +1 more source

The Eye on Mitochondrial Disorders. [PDF]

, 2015
Ophthalmologic manifestations of mitochondrial disorders are frequently neglected or overlooked because they are often not regarded as part of the phenotype.
Daruich, A., Finsterer, J., Zarrouk-Mahjoub, S.   +2 more
core   +3 more sources

From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family

Protein Science, Volume 35, Issue 4, April 2026.
Abstract Mitochondrial carrier proteins are essential for cellular physiology as they are active in a wide range of metabolic pathways including production of cellular energy, amino acid synthesis, redox balance and ion homeostasis. The double membrane of mitochondria provides a tightly gated environment through which carrier proteins facilitate the ...
Catherine S. Palmer, Phoebe J. Leeming, Diana Stojanovski   +2 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

Interpreting iron studies [PDF]

, 2017
No abstract ...
Kelly, Alison U., McSorley, Stephen T., Patel, Prinesh, Talwar, Dinesh   +3 more
core   +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

COVID-19 associated respiratory failure complicating a pericardial effusion in a patient with sideroblastic anemia

Respiratory Medicine Case Reports, 2021
Background COVID-19 disease has been associated with several cardiovascular complications that rarely occur in the acute phase of the disease. Case report A 13-year-old pediatric patient with congenital sideroblastic anemia associated with YARS2 mutation
E. Sayad, Mohamad K Hammoud, Dima Khreis, M. El Shami, Maroun Matar, R. Farah   +5 more
semanticscholar   +1 more source

Pennies for Your Thoughts: A Case Series of Pancytopenia Due to Zinc-Induced Copper Deficiency in the Same Patient [PDF]

, 2019
A 47-year-old schizophrenic male presented on three separate occasions with pancytopenia and sideroblastic anemia due to copper deficiency from massive zinc penny ingestion.
Aaron, Cynthia K., Bora, Keenan M., Dolcourt, Bram A., Paxton, James H.   +3 more
core  

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

Pyridoxine Response in Mouse Alas2 Knock-in Models of X-Linked Sideroblastic Anemia and X-Linked Protoporphyria

Blood, 2021
Introduction. Pyridoxal 5' Phosphate (PLP) is the cofactor form of vitamin B6 in ~60 human enzymes. The first enzyme of the heme biosynthesis pathway, delta-aminolevulinic acid synthase (ALAS), that catalyzes the condensation of glycine and succinyl ...
S. Ducamp, P. Schmidt, D. Campagna, M. D. Fleming   +3 more
semanticscholar   +1 more source