The molecular genetics of sideroblastic anemia

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors

(2018) Angeliki Giannelou et al.   ANNALS OF THE RHEUMATIC DISEASES

Iron–sulfur cluster biogenesis and trafficking in mitochondria

(2017) Joseph J. Braymer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutation in humanCLPXelevates levels ofδ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria

(2017) Yvette Y. Yien et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

(2016) Daniel A. Lichtenstein et al.   BLOOD

The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia

(2016) D. A. Arber et al.   BLOOD

Physiologic Expression of Sf3b1 K700E Causes Impaired Erythropoiesis, Aberrant Splicing, and Sensitivity to Therapeutic Spliceosome Modulation

(2016) Esther A. Obeng et al.   CANCER CELL

Expanding the genotypic spectrum of Perrault syndrome

(2016) L.A.M. Demain et al.   CLINICAL GENETICS

Characterization of Human and Yeast Mitochondrial Glycine Carriers with Implications for Heme Biosynthesis and Anemia

(2016) Paola Lunetti et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts

(2016) A Mupo et al.   LEUKEMIA

Modulation of splicing catalysis for therapeutic targeting of leukemia with mutations in genes encoding spliceosomal proteins

(2016) Stanley Chun-Wei Lee et al.   NATURE MEDICINE

TRNT1 deficiency: clinical, biochemical and molecular genetic features

(2016) Yehani Wedatilake et al.   Orphanet Journal of Rare Diseases

Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia

(2016) J. Pedro Fernández-Murray et al.   PLoS Genetics

Expanding the Phenotype ofTRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction

(2016) Sarah Hull et al.   JAMA Ophthalmology

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

(2015) K. Schmitz-Abe et al.   BLOOD

Hypomorphic mutations inTRNT1cause retinitis pigmentosa with erythrocytic microcytosis

(2015) Adam P. DeLuca et al.   HUMAN MOLECULAR GENETICS

Deregulation of Genes Related to Iron and Mitochondrial Metabolism in Refractory Anemia with Ring Sideroblasts

(2015) Mónica del Rey et al.   PLoS One

Structures of lipoyl synthase reveal a compact active site for controlling sequential sulfur insertion reactions

(2014) Jenny E. Harmer et al.   BIOCHEMICAL JOURNAL

Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient

(2014) G. Liu et al.   BLOOD

Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia

(2014) K. E. Gagne et al.   BLOOD

KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of  -thalassemia

(2014) D. Liu et al.   BLOOD

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

(2014) P. K. Chakraborty et al.   BLOOD

Sideroblastic Anemia

(2014) Sylvia S. Bottomley et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

TMEM14C is required for erythroid mitochondrial heme metabolism

(2014) Yvette Y. Yien et al.   JOURNAL OF CLINICAL INVESTIGATION

Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene

(2014) Lindsay C. Burrage et al.   MOLECULAR GENETICS AND METABOLISM

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

(2014) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Crystal Structures of Nucleotide-Free and Glutathione-Bound Mitochondrial ABC Transporter Atm1

(2014) V. Srinivasan et al.   SCIENCE

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

(2013) D. H. Wiseman et al.   BLOOD

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

(2013) K. Kaneko et al.   HAEMATOLOGICA

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia

(2013) Lisa G Riley et al.   Orphanet Journal of Rare Diseases

Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP)

(2012) Sarah Ducamp et al.   HUMAN MOLECULAR GENETICS

The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts

(2012) M Nikpour et al.   LEUKEMIA

SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value

(2011) M. M. Patnaik et al.   BLOOD

SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts

(2011) V Visconte et al.   LEUKEMIA

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts

(2011) E. Papaemmanuil et al.   NEW ENGLAND JOURNAL OF MEDICINE

Congenital Sideroblastic Anemias: Iron and Heme Lost in Mitochondrial Translation

(2011) M. D. Fleming   Hematology-American Society of Hematology Education Program

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

(2010) Lisa G. Riley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The idic(X)(q13) in myeloid malignancies: breakpoint clustering in segmental duplications and association with TET2 mutations

(2010) K. Paulsson et al.   HUMAN MOLECULAR GENETICS

Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis

(2009) L. Malcovati et al.   BLOOD

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

(2009) Duane L Guernsey et al.   NATURE GENETICS

C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

(2008) Sharon D. Whatley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Role of the Iron Transporter ABCB7 in Refractory Anemia with Ring Sideroblasts

(2008) Jacqueline Boultwood et al.   PLoS One