(Q36115086)

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A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis

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Europe PubMed Central

PMC publication ID

12 August 2017

A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis (English)

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Europe PubMed Central

PMC publication ID

12 August 2017

12

object named as

Janet Rossant

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Europe PubMed Central

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12 August 2017

object named as

Steven Maltby

3

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Michael R. Hughes

object named as

Michael R Hughes

1

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William L. Stanford

object named as

William L Stanford

19

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Kelly M McNagny

object named as

Kelly M McNagny

18

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object named as

S Lee Adamson

11

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Luanne L Peters

13

object named as

Luanne L Peters

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12 August 2017

author name string

Nicole Anderson

2

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12 August 2017

Justin Wong

4

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12 August 2017

Zorana Berberovic

5

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12 August 2017

Connie S Birkenmeier

6

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Europe PubMed Central

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12 August 2017

D James Haddon

7

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Europe PubMed Central

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12 August 2017

Kamal Garcha

8

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Europe PubMed Central

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12 August 2017

Ann Flenniken

9

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Europe PubMed Central

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12 August 2017

Lucy R Osborne

10

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12 August 2017

Mark D Minden

14

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12 August 2017

Robert F Paulson

15

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12 August 2017

Chen Wang

16

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12 August 2017

Dwayne L Barber

17

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12 August 2017

language of work or name

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28 December 2010

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12 August 2017

Experimental Hematology

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12 August 2017

39

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12 August 2017

3

1 reference

Europe PubMed Central

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12 August 2017

305-20, 320.e1-2

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

Imaging of the diffusion of single band 3 molecules on normal and mutant erythrocytes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 October 2017

Single Lgr5 stem cells build crypt-villus structures in vitro without a mesenchymal niche

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 October 2017

Novel roles for erythroid Ankyrin-1 revealed through an ENU-induced null mouse mutant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 October 2017

The structure of the ankyrin-binding site of -spectrin reveals how tandem spectrin-repeats generate unique ligand-binding properties

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 October 2017

Structures of the spectrin-ankyrin interaction binding domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 October 2017

Hereditary spherocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 October 2017

Organizing the fluid membrane bilayer: diseases linked to spectrin and ankyrin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 October 2017

Association of small ankyrin 1 with the sarcoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 October 2017

Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 October 2017

An alternate promoter directs expression of a truncated, muscle-specific isoform of the human ankyrin 1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 October 2017

Structure and organization of the human ankyrin-1 gene. Basis for complexity of pre-mRNA processing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 October 2017

Small, membrane-bound, alternatively spliced forms of ankyrin 1 associated with the sarcoplasmic reticulum of mammalian skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 October 2017

Mapping of ankyrin binding determinants on the erythroid anion exchanger, AE1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 October 2017

Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 October 2017

Complex patterns of sequence variation and multiple 5' and 3' ends are found among transcripts of the erythroid ankyrin gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 October 2017

Spectrin deficient inherited hemolytic anemias in the mouse: Characterization by spectrin synthesis and mRNA activity in reticulocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 October 2017

Distinct ankyrin isoforms at neuron cell bodies and nodes of Ranvier resolved using erythrocyte ankyrin-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 October 2017

Distinct fetal Ank-1 and Ank-2 related proteins and mRNAs in normal and nb/nb mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 July 2018

Resistance to malaria in ankyrin and spectrin deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 July 2018

Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

2 July 2018

Usefulness of the eosin-5'-maleimide cytometric method as a first-line screening test for the diagnosis of hereditary spherocytosis: comparison with ektacytometry and protein electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

23 September 2018

A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

23 September 2018

Hematopoietic stem cell and progenitor defects in Sca-1/Ly-6A-null mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

23 September 2018

A cysteine protease activity from Plasmodium falciparum cleaves human erythrocyte ankyrin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

23 September 2018

An alternative first exon in the distal end of the erythroid ankyrin gene leads to production of a small isoform containing an NH2-terminal membrane anchor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

23 September 2018

Effects of ENU dosage on mouse strains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3404605

21 October 2018

Large numbers of alternatively spliced isoforms of the regulatory region of human erythrocyte ankyrin

1 reference

https://pubmed.ncbi.nlm.nih.gov/21193012

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hematologically important mutations: ankyrin variants in hereditary spherocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/21193012

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural insight into an ankyrin-sensitive lipid-binding site of erythroid beta-spectrin

1 reference

https://pubmed.ncbi.nlm.nih.gov/21193012

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Simultaneous (AC)n microsatellite polymorphism analysis and single-stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/21193012

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification of an active proteolytic fragment of the membrane attachment site for human erythrocyte spectrin

1 reference

https://pubmed.ncbi.nlm.nih.gov/21193012

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phosphorylation of ankyrin decreases its affinity for spectrin tetramer

1 reference

https://pubmed.ncbi.nlm.nih.gov/21193012

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulatory domains of erythrocyte ankyrin

1 reference

https://pubmed.ncbi.nlm.nih.gov/21193012

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ankyrin regulation: an alternatively spliced segment of the regulatory domain functions as an intramolecular modulator

1 reference

https://pubmed.ncbi.nlm.nih.gov/21193012

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.EXPHEM.2010.12.009

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

ResearchGate publication ID

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