(Q24336206)

English

Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease

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scholarly article

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Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease (English)

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1 reference

GOA release 2020-03-11

author name string

A Odermatt

1

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P E Taschner

2

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S W Scherer

3

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B Beatty

4

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V K Khanna

5

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D R Cornblath

6

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V Chaudhry

7

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W C Yee

8

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B Schrank

9

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G Karpati

10

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M H Breuning

11

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N Knoers

12

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D H MacLennan

13

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language of work or name

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publication date

1 November 1997

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45

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3

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541-53

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Myopathy caused by a deficiency of Ca2+-adenosine triphosphatase in sarcoplasmic reticulum (Brody's disease)

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https://api.crossref.org/works/10.1006%2FGENO.1997.4967

7 January 2021

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Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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Characterization of NIGMS human/rodent somatic cell hybrid mapping panel 2 by PCR

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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Characterization of cDNA and genomic DNA encoding SERCA1, the Ca(2+)-ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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Modes of DAPI banding and simultaneous in situ hybridization

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https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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Ischaemic forearm testing in a patient with Ca(2+)-ATPase deficiency

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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based on heuristic

inferred from DOI database lookup

Sarcolipin, the "proteolipid" of skeletal muscle sarcoplasmic reticulum, is a unique, amphipathic, 31-residue peptide

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

7 January 2021

based on heuristic

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Rabbit cardiac and slow-twitch muscle express the same phospholamban gene.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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A conserved AU sequence from the 3' untranslated region of GM-CSF mRNA mediates selective mRNA degradation

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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Purified transcription factor AP-1 interacts with TPA-inducible enhancer elements

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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trkC, a new member of the trk family of tyrosine protein kinases, is a receptor for neurotrophin-3

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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Amino-acid sequence of a Ca2+ + Mg2+-dependent ATPase from rabbit muscle sarcoplasmic reticulum, deduced from its complementary DNA sequence.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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Two adjacent MyoD1-binding sites regulate expression of the acetylcholine receptor α-subunit gene

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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A method for constructing radiation hybrid maps of whole genomes

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

7 January 2021

based on heuristic

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Muscle contracture induced by exercise. A syndrome attributable to decreased relaxing factor

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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Mutation of aspartic acid-351, lysine-352, and lysine-515 alters the Ca2+ transport activity of the Ca2+-ATPase expressed in COS-1 cells

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

7 January 2021

based on heuristic

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MyoD binds cooperatively to two sites in a target enhancer sequence: occupancy of two sites is required for activation

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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based on heuristic

inferred from DOI database lookup

Fluorescence in situ hybridization with Alu and L1 polymerase chain reaction probes for rapid characterization of human chromosomes in hybrid cell lines

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

7 January 2021

based on heuristic

inferred from DOI database lookup

Phospholamban regulates the Ca2+-ATPase through intramembrane interactions

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

7 January 2021

based on heuristic

inferred from DOI database lookup

Scanning mutagenesis reveals a similar pattern of mutation sensitivity in transmembrane sequences M4, M5, and M6, but not in M8, of the Ca2+-ATPase of sarcoplasmic reticulum (SERCA1a)

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

7 January 2021

based on heuristic

inferred from DOI database lookup

Phospholamban inhibitory function is activated by depolymerization

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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based on heuristic

inferred from DOI database lookup

An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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based on heuristic

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Ion pathways in proteins of the sarcoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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based on heuristic

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An STS-based map of the human genome

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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Multiple CArG boxes in the human cardiac actin gene promoter required for expression in embryonic cardiac muscle cells developing in vitro from embryonal carcinoma cells

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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The MEF-3 motif is required for MEF-2-mediated skeletal muscle-specific induction of the rat aldolase A gene

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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A cDNA cloning vector that permits expression of cDNA inserts in mammalian cells

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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Ca2+-ATPase deficiency in a patient with an exertional muscle pain syndrome

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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Exertional rhabdomyolysis in a patient with calcium adenosine triphosphatase deficiency.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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based on heuristic

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Phosphorylation of the Sarcoplasmic Reticulum and Sarcolemma

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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based on heuristic

inferred from DOI database lookup

Molecular cloning and quantification of sarcoplasmic reticulum Ca(2+)-ATPase isoforms in rat muscles

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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based on heuristic

inferred from DOI database lookup

Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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based on heuristic

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Sarcoplasmic reticulum adenosine triphosphatase deficiency with probable autosomal dominant inheritance

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1997.4967

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based on heuristic

inferred from DOI database lookup

Identifiers

10.1006/GENO.1997.4967

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