Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2. (Q39211216)

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22 February 2020

title

Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2 (English)

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22 February 2020

9

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Vinzenz Oji

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21

Anders Vahlquist

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Dorothea Bornholdt

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T Prescott Atkinson

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Bakar Bouadjar

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Benoit Catteau

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Helen Cox

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Deepthi De Silva

6

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Judith Fischer

7

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Chalukya N Gunasekera

8

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Rudolf Happle

10

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Muriel Holder-Espinasse

11

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Elke Kaminski

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Arne König

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André Mégarbané

14

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Hala Mégarbané

15

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Ulrike Neidel

16

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Frank Oeffner

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Amy Theos

19

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Heiko Traupe

20

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Bregje W van Bon

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Marie Virtanen

23

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Karl-Heinz Grzeschik

24

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publication date

8 March 2013

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22 February 2020

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22 February 2020

volume

34

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22 February 2020

issue

4

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22 February 2020

page(s)

587-594

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Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.

22 February 2020

cites work

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New insights into S2P signaling cascades: regulation, variation, and conservation.

21 January 2018

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A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family

21 January 2018

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A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome

21 January 2018

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Somatic cell genetic and biochemical characterization of cell lines resulting from human genomic DNA transfections of Chinese hamster ovary cell mutants defective in sterol-dependent activation of sterol synthesis and LDL receptor expression

21 January 2018

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Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.

21 January 2018

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Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin

21 January 2018

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Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome

21 January 2018

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Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

21 January 2018

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Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review.

21 January 2018

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Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred

21 January 2018

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

21 January 2018

1 reference

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Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome.

21 January 2018

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Complementation cloning of S2P, a gene encoding a putative metalloprotease required for intramembrane cleavage of SREBPs

21 January 2018

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Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): ne

21 January 2018

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Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.

21 January 2018

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A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family.

21 January 2018

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

21 January 2018

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Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients

21 January 2018

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7 January 2021

MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans

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7 January 2021

What is IFAP syndrome?

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7 January 2021

Ichthyosis follicularis, alopecia, and photophobia syndrome: a case report and a pathological insight into pilosebaceous anomaly

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7 January 2021

Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia)

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7 January 2021

MBTPS2 mutation causes BRESEK/BRESHECK syndrome

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7 January 2021

A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22275

7 January 2021

IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel MBTPS2 mutation in a Polish patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22275

7 January 2021

Ichthyosis follicularis with alopecia and photophobia in a mother and daughter

1 reference

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7 January 2021

Identifiers

DOI

10.1002/HUMU.22275

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22 February 2020

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