Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. (Q38342023)

2 September 2017

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. (English)

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keratosis follicularis spinulosa decalvans

2 September 2017

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keratosis follicularis

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Emmelien Aten

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2 September 2017

Lisa C Brasz

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2 September 2017

Dorothea Bornholdt

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2 September 2017

Ingeborg B Hooijkaas

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2 September 2017

Mary E Porteous

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Virginia P Sybert

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Maarten H Vermeer

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Rolf H A M Vossen

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2 September 2017

Michiel J R van der Wielen

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2 September 2017

Egbert Bakker

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Martijn H Breuning

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2 September 2017

Karl-Heinz Grzeschik

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2 September 2017

Jan C Oosterwijk

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Johan T den Dunnen

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1 October 2010

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2 September 2017

1125-1133

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Clinical findings, cutaneous pathology, and response to therapy in 21 patients with keratosis pilaris atrophicans

2 September 2017

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https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

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https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans

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https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

Proof of "disease causing" mutation

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https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

Inheritance of most X-linked traits is not dominant or recessive, just X-linked

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https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

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https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)

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https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

Keratosis follicularis spinulosa decalvans: report of a new pedigree

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https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome

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https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR.

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https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response

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https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

Confirmation of X-linked inheritance and provisional mapping of the keratosis follicularis spinulosa decalvans gene on Xp in a large Dutch family

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https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity

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https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.

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https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2.

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https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers

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https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

Membrane topology of S2P, a protein required for intramembranous cleavage of sterol regulatory element-binding proteins

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https://api.crossref.org/works/10.1002%2FHUMU.21335

7 January 2021

Identifiers

DOI

10.1002/HUMU.21335

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2 September 2017

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