(Q24290343)

English

Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV

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Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV (English)

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1 reference

GOA release 2020-03-11

membrane protein

1 reference

based on heuristic

inferred from title

mucolipidosis type IV

1 reference

based on heuristic

inferred from title

author name string

M T Bassi

1

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M Manzoni

2

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E Monti

3

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M T Pizzo

4

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A Ballabio

5

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G Borsani

6

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language of work or name

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publication date

November 2000

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American Journal of Human Genetics

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67

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5

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1110-20

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Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease

1 reference

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19 March 2017

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

1 reference

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19 March 2017

trp, a novel mammalian gene family essential for agonist-activated capacitative Ca2+ entry

1 reference

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19 March 2017

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

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1 reference

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7 April 2017

Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs

1 reference

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19 March 2017

Cultured Skin Fibroblasts Derived from Patients with Mucolipidosis 4 Are Auto-Fluorescent

1 reference

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19 March 2017

dbEST--database for "expressed sequence tags"

1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes

1 reference

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Capacitative calcium entry channels

1 reference

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1 reference

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Mucolipidosis IV: morphology and histochemistry of an autopsy case.

1 reference

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Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy

1 reference

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Mucolipidosis type IV: clinical spectrum and natural history.

1 reference

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30 May 2018

Identification of the gene causing mucolipidosis type IV.

1 reference

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The role of intraorganellar Ca(2+) in late endosome-lysosome heterotypic fusion and in the reformation of lysosomes from hybrid organelles

1 reference

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29 November 2018

How to get the best of dbEST

1 reference

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7 January 2021

Phospholipids accumulation in mucolipidosis IV cultured fibroblasts

1 reference

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Phosphatidylcholine storage in mucolipidosis IV

1 reference

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Mucolipidosis type IV: Abnormal transport of lipids to lysosomes

1 reference

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7 January 2021

Congenital corneal clouding with abnormal systemic storage bodies: A new variant of mucolipidosis

1 reference

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7 January 2021

A practical guide to orient yourself in the labyrinth of genome databases

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7 January 2021

Protein kinase calpha targeting is regulated by temporal and spatial changes in intracellular free calcium concentration [Ca(2+)](i)

1 reference

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7 January 2021

Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population

1 reference

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Protein kinase C activation and phosphate uptake are altered in intact mucolipidosis type-4 skin fibroblasts

1 reference

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Identifiers

10.1016/S0002-9297(07)62941-3

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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