PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans (Q24301980)

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English	PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans	scientific article

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instance of

scholarly article

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title

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans (English)

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main subject

congenital disorder

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autosomal recessive congenital ichthyosis

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premature termination codon

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PubMed

lipases

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PubMed

missense mutation

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PubMed

indel

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PubMed

lamellar ichthyosis

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PubMed

Patatin like phospholipase domain containing 1

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GOA release 2020-03-11

author

Mark Lathrop

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21

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Francis Galibert

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22

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Sébastien Küry

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15

object named as

Sébastien Küry

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Matthieu Le Gallo

object named as

Matthieu Le Gallo

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8

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Robert Zimmermann

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Robert Zimmermann

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19

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Rudolf Zechner

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Rudolf Zechner

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20

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Franz P W Radner

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Franz P W Radner

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13

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ORCID Public Data File 2021

Emmanuelle Bourrat

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5

object named as

Emmanuelle Bourrat

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author name string

Anaïs Grall

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1

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Eric Guaguère

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2

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Sandrine Planchais

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3

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Susanne Grond

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4

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Ingrid Hausser

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6

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Christophe Hitte

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7

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Céline Derbois

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9

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Gwang-Jin Kim

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10

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Laëtitia Lagoutte

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11

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Frédérique Degorce-Rubiales

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12

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Anne Thomas

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14

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Sébastien Küry

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15

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Emmanuel Bensignor

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16

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Jacques Fontaine

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17

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Didier Pin

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18

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Catherine André

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23

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Judith Fischer

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24

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language of work or name

English

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publication date

February 2012

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published in

Nature Genetics

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volume

44

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issue

2

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page(s)

140-7

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cites work

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Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism

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Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome

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Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease

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Autosomal recessive congenital ichthyosis

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Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis

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The clinical and morphologic features of nonepidermolytic ichthyosis in the golden retriever

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Variant in PNPLA3 is associated with alcoholic liver disease

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Clinical, histopathological and genetic data of ichthyosis in the golden retriever: a prospective study.

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PubMed

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Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome).

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PubMed

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Cryosectioning and immunolabeling

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PubMed

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Fate of fat: the role of adipose triglyceride lipase in lipolysis

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22246504

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based on heuristic

inferred from PubMed ID database lookup

Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22246504

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inferred from PubMed ID database lookup

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12 December 2020

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Dog star rising: the canine genetic system

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PubMed

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based on heuristic

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PubMed

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Crystalline domain structure and cholesterol crystal nucleation in single hydrated DPPC:cholesterol:POPC bilayers

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22246504

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22246504

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22246504

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell terrier dogs

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22246504

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An update on molecular aspects of the non-syndromic ichthyoses

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22246504

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cornification defect in the golden retriever: clinical, histopathological, ultrastructural and genetic characterisation

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22246504

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22246504

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transglutaminases in skin epidermis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22246504

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22246504

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PLA2G6 mutations and Parkinson's disease

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22246504

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22246504

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/22246504

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12 December 2020

based on heuristic

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Proliferative and necrotizing otitis externa in four cats

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reference URL

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Identifiers

DOI

10.1038/NG.1056

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

507352

Dimensions Publication ID

1016232870

0 references

OpenCitations bibliographic resource ID

507352

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

507352

PubMed publication ID

22246504

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

507352

ResearchGate publication ID

221748802

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