Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8

No abstract is available for this paper.

• Publication year

  1990

• Venue

  Nature

• Publication date

  1990-06-21

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1038/345736A0
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• cDNA sequence for human erythrocyte ankyrin.

  1990cited by this paper
• Analysis of cDNA for human erythrocyte ankyrin indicates a repeated structure with homology to tissue-differentiation and cell-cycle control proteins

  1990cited by this paper
• Ankyrin and the hemolytic anemia mutation, nb, map to mouse chromosome 8: presence of the nb allele is associated with a truncated erythrocyte ankyrin.

  1990cited by this paper
• High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones.

  1990cited by this paper
• The Metabolic basis of inherited disease

  1989cited by this paper
• Cloning and characterization of band 3, the human erythrocyte anion-exchange protein (AE1).

  1989cited by this paper
• Molecular cloning of the cDNA for human erythrocyte beta-spectrin.

  1988cited by this paper
• Partial ankyrin and spectrin deficiency in severe, atypical hereditary spherocytosis.

  1988cited by this paper
• Associations of human erythrocyte band 4.2. Binding to ankyrin and to the cytoplasmic domain of band 3.

  1988cited by this paper
• The nucleic acid blot analyzer. I: High speed imaging and quantitation of 32P-labeled blots

  1987cited by this paper
• Association of red cell spherocytosis with deletion of the short arm of chromosome 8.

  1987cited by this paper
• Structure and organization of the murine band 3 gene.

  1987cited by this paper
• Localization of the gene for the erythroid anion exchange protein, band 3 (EMPB3), to human chromosome 17.

  1987cited by this paper
• Chromosome maps of man and mouse, III.

  1987cited by this paper
• Isolation and characterization of cDNA clones for human erythrocyte beta-spectrin.

  1987cited by this paper
• Abnormal oxidant sensitivity and beta-chain structure of spectrin in hereditary spherocytosis associated with defective spectrin-protein 4.1 binding.

  1987cited by this paper
• Molecular basis of hereditary elliptocytosis due to protein 4.1 deficiency.

  1986cited by this paper
• Inheritance pattern and clinical response to splenectomy as a reflection of erythrocyte spectrin deficiency in hereditary spherocytosis.

  1986cited by this paper
• Evolution of the functional human beta-actin gene and its multi-pseudogene family: conservation of noncoding regions and chromosomal dispersion of pseudogenes

  1985cited by this paper
• The alpha-spectrin gene is on chromosome 1 in mouse and man.

  1985cited by this paper
• Partial deficiency of erythrocyte spectrin in hereditary spherocytosis

  1985cited by this paper
• Further evidence for location of the spherocytosis gene on chromosome 8.

  1983cited by this paper
• A genetic defect in the binding of protein 4.1 to spectrin in a kindred with hereditary spherocytosis.

  1982cited by this paper
• Identification of the molecular defect in the erythrocyte membrane skeleton of some kindreds with hereditary spherocytosis.

  1982cited by this paper
• Identification and partial purification of ankyrin, the high affinity membrane attachment site for human erythrocyte spectrin.

  1979cited by this paper
• The Isolation and Characterization of Linked δ- and β-Globin Genes from a Cloned Library of Human DNA

  1978cited by this paper
• Linkage and gene localization of hereditary spherocytosis (HS).

  1978cited by this paper
• Exclusion of glutathione reductase from 8pter→8p22 and localization to 8p21

  1978cited by this paper
• Localization of spherocytosis to chromosome 8 or 12 and report of a family with spherocytosis and a reciprocal translocation.

  1975cited by this paper
• Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane.

  1971cited by this paper
• The role of membrane lipids in the survival of red cells in hereditary spherocytosis.

  1969cited by this paper

• Potassium channel clustering: mechanisms shaping axonal excitability

  2025cites this paper
• Localized Leishmania major infection disrupts systemic iron homeostasis that can be controlled by oral iron supplementation

  2023cites this paper
• Pleiotropic Ankyrins: Scaffolds for Ion Channels and Transporters

  2022cites this paper
• ANKRD37 inhibits trophoblast migration and invasion by regulating the NF‐κB pathway in preeclampsia

  2022cites this paper
• Ankyrin-R regulates fast-spiking interneuron excitability through perineuronal nets and Kv3.1b K+ channels

  2021cites this paper
• Concurrent Presentations of Hereditary Spherocytosis and Craniosynostosis Syndromes in Siblings: A Case Series

  2021cites this paper
• Molecular Pathology—In Situ Hybridization

  2020cites this paper
• Structural basis underlying strong interactions between ankyrins and spectrins

  2020cites this paper
• Molecular pathology

  2020cites this paper
• Beyond antibodies: ankyrins and DARPins. From basic research to drug approval.

  2020cites this paper
• Global retardation and hereditary spherocytosis associated with a novel deletion of chromosome 8p11.21 encompassing KAT6A and ANK1.

  2020cites this paper
• Global retardation and hereditary spherocytosis associated with a novel deletion of chromosome 8p11.21 encompassing KAT6A and ANK1.

  2020cites this paper
• Modeling of the Axon Plasma Membrane with the Effect of Cytoskeleton on its Membrane Protein Diffusion

  2019cites this paper
• PROBLEMY NAUK BIOLOGICZNYCH

  2017cites this paper
• Oculofacial Manifestations of Chromosomal Aberrations

  2017cites this paper
• Autoinhibition of ankyrin-B/G membrane target bindings by intrinsically disordered segments from the tail regions

  2017cites this paper
• Defects of erythrocyte membrane proteins in Polish patients with hereditary spherocytosis

  2016cites this paper
• Diffusion of glycophorin A in human erythrocytes.

  2016cites this paper
• Identification of adducin-binding residues on the cytoplasmic domain of erythrocyte membrane protein, band 3.

  2016cites this paper
• Modeling of band-3 protein diffusion in the normal and defective red blood cell membrane.

  2016cites this paper
• A HIERARCHY OF ANKYRIN/SPECTRIN COMPLEXES CLUSTERS SODIUM CHANNELS AT NODES OF RANVIER

  2014cites this paper
• Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders.

  2013cites this paper
• A Deep Intronic Mutation in the Ankyrin-1 Gene Causes Diminished Protein Expression Resulting in Hemolytic Anemia in Mice

  2013cites this paper
• Ankyrin-B structurally defines terminal microdomains of peripheral somatosensory axons

  2013cites this paper
• Sequence-Specific Recognition of a PxLPxI/L Motif by an Ankyrin Repeat Tumbler Lock

  2012cites this paper
• Making headway with the molecular and clinical definition of rare genetic disorders with intellectual disability

  2012cites this paper
• A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features.

  2012cites this paper
• Identification of contact sites between ankyrin and band 3 in the human erythrocyte membrane.

  2012cites this paper
• La esferocitosis hereditaria y su diagnóstico en la práctica clínica

  2012cites this paper
• Single-cell electrical lysis of erythrocytes detects deficiencies in the cytoskeletal protein network.

  2011cites this paper
• Disruption of Spectrin-Like Cytoskeleton in Differentiating Keratinocytes by PKCδ Activation Is Associated with Phosphorylated Adducin

  2011cites this paper
• Analysis of the Mobilities of Band 3 Populations Associated with Ankyrin Protein and Junctional Complexes in Intact Murine Erythrocytes*

  2011cites this paper
• Mouse Fem1b interacts with and induces ubiquitin-mediated degradation of Ankrd37.

  2011cites this paper
• the normoblastosis (nb) mutation Fetal compensation of the hemolytic anemia in mice homozygous for

  2011cites this paper
• Anemias hemolíticas hereditarias desde la perspectiva de un laboratoriode referencia del Norte de México

  2010cites this paper
• Diffusion properties of band 3 in human erythrocytes

  2009cites this paper
• Imaging of the diffusion of single band 3 molecules on normal and mutant erythrocytes.

  2009cites this paper
• Ankrd7, a novel gene specifically expressed in Sertoli cells and its potential roles in Sertoli cell maturation

  2009cites this paper
• Protein 4.2: a complex linker.

  2009cites this paper
• Adducin forms a bridge between the erythrocyte membrane and its cytoskeleton and regulates membrane cohesion.

  2009cites this paper
• Ankyrin protein networks in membrane formation and stabilization

  2009cites this paper
• Ankyrin-based Patterning of Membrane Microdomains: New Insights Into a Novel Class of Cardiovascular Diseases

  2009cites this paper
• Development of Water-Capsulation Technology with Nano-Ordered Super-Hydrorepellent Solid Particles and Its Application

  2009cites this paper
• Protein 4.2 Binds to the Carboxyl-terminal EF-hands of Erythroid α-Spectrin in a Calcium- and Calmodulin-dependent Manner*

  2009cites this paper
• Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects.

  2009cites this paper
• Mouse chromosome 8

  2009cites this paper
• Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease

  2008cites this paper
• Hereditary spherocytosis.

  2008cites this paper
• Red cell membrane: past, present, and future.

  2008cites this paper
• Targeting of the cardiac voltage-gated sodium channel 1.5 requires an ankyrin-G-dependent pathway.

  2008cites this paper
• Exon organization and novel alternative splicing of the human ANK2 gene: implications for cardiac function and human cardiac disease.

  2008cites this paper
• Vision Impairment with an Interstitial Deletion of the Short Arm of Chromosome 8

  2007cites this paper
• Erythrocyte Disorders in the Perinatal Period in Adverse Pregnancy Outcome and the Fetus/Neonate

  2007cites this paper
• Erythrocyte disorders in the perinatal period.

  2007cites this paper
• An 11-amino acid β-hairpin loop in the cytoplasmic domain of band 3 is responsible for ankyrin binding in mouse erythrocytes

  2007cites this paper
• Molecular mechanisms of cellular mechanics.

  2006cites this paper
• Weighing in on molecular anchors: the role of ankyrin polypeptides in human arrhythmia

  2006cites this paper
• Genomic Organization, Differential Expression, and Interaction of SQUAMOSA Promoter-Binding-Like Transcription Factors and microRNA156 in Rice1[W]

  2006cites this paper
• A novel 8 Mb interstitial deletion of chromosome 8p12‐p21.2

  2006cites this paper
• New case of contiguous gene syndrome at chromosome 8p11.2p12

  2005cites this paper
• Spectrin, alpha-actinin, and dystrophin.

  2005influential citation
• Immunocytochemical study of membrane skeletons in abnormally shaped erythrocytes as revealed by a quick-freezing and deep-etching method

  2005influential citation
• In search of the hair-cell gating spring elastic properties of ankyrin and cadherin repeats.

  2005cites this paper
• Development of the Ocular Lens: Lens Cell Proliferation: The Cell Cycle

  2004cites this paper
• Development of the Ocular Lens: Lens Induction and Determination

  2004cites this paper
• Development of the Ocular Lens: The Lens: Historical and Comparative Perspectives

  2004cites this paper
• Murine erythrocyte ankyrin cDNA: highly conserved regions of the regulatory domain

  2004cites this paper
• Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer.

  2004cites this paper
• Development of the Ocular Lens: Growth Factors in Lens Development

  2004cites this paper
• Development of the Ocular Lens: Lens Cell Cytoskeleton

  2004cites this paper
• Transcription factors in early lens development

  2004cites this paper
• Development of the Ocular Lens: Role of Matrix and Cell Adhesion Molecules in Lens Differentiation

  2004cites this paper
• Development of the Ocular Lens: Preface

  2004cites this paper
• Development of the Ocular Lens: Lens Cell Membranes

  2004cites this paper
• Hereditary haemolytic anaemias: unexpected sequelae of mutations in the genes for erythroid membrane skeletal proteins

  2004cites this paper
• Development of the Ocular Lens: Lens Regeneration

  2004cites this paper
• Development of the Ocular Lens: Bibliography

  2004cites this paper
• Development of the Ocular Lens: Lens Fiber Differentiation

  2004cites this paper
• Development of the Ocular Lens: The Structure of the Vertebrate Lens

  2004cites this paper
• Development of the Ocular Lens: Lens Crystallins

  2004cites this paper
• Normoblastosis, a murine model for ankyrin-deficient hemolytic anemia, is caused by a hypomorphic mutation in the erythroid ankyrin gene Ank1.

  2003cites this paper
• nb mice Distinct fetal Ank-1 and Ank-2 related proteins and mRNAs in normal

  2003cites this paper
• Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion.

  2002cites this paper
• Distinct Ankyrin Isoforms at Neuron Cell Bodies and Nodes ofRanvier Resolved Using Erythrocyte Ankyrin-deficient Mice Ekaterini

  2002cites this paper
• Identification of a Small Cytoplasmic Ankyrin ( ARkG 119 ) in the Kidney and Muscle that Binds [ 3 IE * Spectrin and Associates with the Golgi Apparatus

  2002cites this paper
• Mutational analysis of the Caenorhabditis elegans ankyrin gene unc-44 demonstrates that the large spliceoform is critical for neural development

  2002influential citation
• Zur Bedeutung von Zytoskelett-Membran-Verbindungen für die gerichtete HCl- Sekretion von Parietalzellen

  2001cites this paper
• Hereditary Red Cell Membrane Disorders in Japan: Their Genotypic and Phenotypic Features in 1014 Cases Studied

  2001cites this paper
• Spectrin ubiquitination and oxidative stress: potential roles in blood and neurological disorders.

  2001cites this paper
• Increase in band 3 density and aggregation in hereditary spherocytosis.

  2001cites this paper
• Bibliography Articles Cited in Commentaries

  2000cites this paper
• Ionizing radiation and genetic risks. XIII. Summary and synthesis of papers VI to XII and estimates of genetic risks in the year 2000.

  2000cites this paper
• Construction of a high-resolution 2.5-Mb transcript map of the human 6p21.2-6p21.3 region immediately centromeric of the major histocompatibility complex.

  2000cites this paper
• Ionizing radiation and genetic risks. XII. The concept of "potential recoverability correction factor" (PRCF) and its use for predicting the risk of radiation-inducible genetic disease in human live births.

  2000cites this paper
• Hereditäre Membrandefekte und Enzymopathien roter Blutzellen

  2000cites this paper
• Red blood cell membrane disorders

  1999cites this paper
• Loss of heterozygosity on 8p in prostate cancer implicates a role for dematin in tumor progression.

  1999cites this paper
• A Novel Neuron-Enriched Homolog of the Erythrocyte Membrane Cytoskeletal Protein 4.1

  1999cites this paper
• Hematologically important mutations: spectrin and ankyrin variants in hereditary spherocytosis.

  1998cites this paper
• Two distinct truncated variants of ankyrin associated with hereditary spherocytosis

  1998cites this paper