Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. (Q51148316)

31 March 2018

http://europepmc.org/abstract/MED/28173123

title

Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. (English)

1 reference

31 March 2018

http://europepmc.org/abstract/MED/28173123

main subject

autosomal recessive congenital ichthyosis

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11 June 2020

Yohya Shigehara

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11 June 2020

Shujiro Okuda

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11 June 2020

Adele Chedraoui

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11 June 2020

Ryota Hayashi

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11 June 2020

Fadi Bitar

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Hiroyuki Nakai

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11 June 2020

Ossama Abbas

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Laetitia Daou

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11 June 2020

Riichiro Abe

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11 June 2020

Maria Bou Sleiman

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11 June 2020

Abdul Ghani Kibbi

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11 June 2020

Mazen Kurban

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11 June 2020

Yutaka Shimomura

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11 June 2020

publication date

1 October 2016

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31 March 2018

http://europepmc.org/abstract/MED/28173123

published in

Human Molecular Genetics

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11 June 2020

volume

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11 June 2020

issue

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11 June 2020

page(s)

4484-4493

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Inherited ichthyosis: Non-syndromic forms

11 June 2020

cites work

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Mutations of keratinocyte transglutaminase in lamellar ichthyosis

21 January 2018

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Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

21 January 2018

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Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.

21 January 2018

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Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

21 January 2018

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Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

21 January 2018

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Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

21 January 2018

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Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis

21 January 2018

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

21 January 2018

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Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans

21 January 2018

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

21 January 2018

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Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase

21 January 2018

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Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13.

21 January 2018

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SDR-O: an orphan short-chain dehydrogenase/reductase localized at mouse chromosome 10/human chromosome 12.

21 January 2018

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Medium- and short-chain dehydrogenase/reductase gene and protein families : the SDR superfamily: functional and structural diversity within a family of metabolic and regulatory enzymes

21 January 2018

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Unusual charge stabilization of NADP+ in 17beta-hydroxysteroid dehydrogenase

21 January 2018

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Structure of the ternary complex of human 17beta-hydroxysteroid dehydrogenase type 1 with 3-hydroxyestra-1,3,5,7-tetraen-17-one (equilin) and NADP+

21 January 2018

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In search for function of two human orphan SDR enzymes: hydroxysteroid dehydrogenase like 2 (HSDL2) and short-chain dehydrogenase/reductase-orphan (SDR-O)

21 January 2018

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Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

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The Sequence Alignment/Map format and SAMtools

21 January 2018

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21 January 2018

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A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

21 January 2018

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

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Efficient selection for high-expression transfectants with a novel eukaryotic vector

21 January 2018

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APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex

21 January 2018

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A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDW277

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28173123%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28173123%20AND%20SRC:MED&resulttype=core&format=json