(Q24602843)

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A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis

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A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis (English)

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1 reference

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object named as

Jens Schuster

4

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object named as

Hans Törmä

5

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Anders Vahlquist

14

object named as

Anders Vahlquist

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Tjinta Brinkhuizen

9

object named as

Tjinta Brinkhuizen

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author name string

Johanna Dahlqvist

1

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Joakim Klar

2

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Neha Tiwari

3

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Jitendra Badhai

6

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Ramon Pujol

7

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Maurice A M van Steensel

8

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Tjinta Brinkhuijzen

10

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Lieke Gijezen

11

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Antonio Chaves

12

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Gianluca Tadini

13

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Niklas Dahl

15

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language of work or name

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publication date

9 April 2010

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American Journal of Human Genetics

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86

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4

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596-603

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The proteasome maturation protein POMP facilitates major steps of 20S proteasome formation at the endoplasmic reticulum

1 reference

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A heterodimeric complex that promotes the assembly of mammalian 20S proteasomes

1 reference

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IFN-gamma-induced immune adaptation of the proteasome system is an accelerated and transient response

1 reference

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

1 reference

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

1 reference

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1 reference

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Untranslated regions of mRNAs

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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1 reference

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Mutations of keratinocyte transglutaminase in lamellar ichthyosis

1 reference

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1 reference

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1 reference

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

1 reference

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Human TRB3 is upregulated in stressed cells by the induction of translationally efficient mRNA containing a truncated 5'-UTR.

1 reference

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1 reference

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Posttranscriptional down-regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency.

1 reference

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Dissecting beta-ring assembly pathway of the mammalian 20S proteasome.

1 reference

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Conserved non-coding sequences and transcriptional regulation

1 reference

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Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders

1 reference

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Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.

1 reference

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Overexpression of hUMP1/POMP proteasome accessory protein enhances proteasome-mediated antioxidant defence

1 reference

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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

1 reference

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The implications of structured 5' untranslated regions on translation and disease

1 reference

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Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

1 reference

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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.

1 reference

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Upstream open reading frames as regulators of mRNA translation

1 reference

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Characterisation of the newly identified human Ump1 homologue POMP and analysis of LMP7(beta 5i) incorporation into 20 S proteasomes

1 reference

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1 reference

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A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

1 reference

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Transcription factors C/EBP alpha, C/EBP beta, and CHOP (Gadd153) expressed during the differentiation program of keratinocytes in vitro and in vivo

1 reference

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Congenital ichthyosiform dermatosis with linear keratotic flexural papules and sclerosing palmoplantar keratoderma

1 reference

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Evidence for separate control mechanisms at the message, protein, and enzyme activation levels for transglutaminase during calcium-induced differentiation of normal and transformed human keratinocytes

1 reference

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EKV mutant connexin 31 associated cell death is mediated by ER stress

1 reference

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The unfolded protein response is activated in differentiating epidermal keratinocytes

1 reference

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28 November 2018

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

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A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR.

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28 November 2018

A +8 (-->CT) mutation within the 5' untranslated region of beta-globin down-regulates the mRNA transcription

1 reference

https://pubmed.ncbi.nlm.nih.gov/20226437

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK-syndrome): a rare, autosomal recessive disorder of keratohyaline formation?

1 reference

https://pubmed.ncbi.nlm.nih.gov/20226437

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new type of erythrokeratoderma

1 reference

https://pubmed.ncbi.nlm.nih.gov/20226437

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK syndrome)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/20226437

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2010.02.018

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