Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair (Q24293034)

negative regulation of vitamin D receptor signaling pathway

GOA release 2020-03-11

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GOA release 2020-03-11

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Yuval Ramot

1

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Vered Molho-Pessach

2

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Tomer Meir

3

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Ruslana Alper-Pinus

4

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Ihab Siam

5

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Spiro Tams

6

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Sofia Babay

7

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Abraham Zlotogorski

Journal of Medical Genetics

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language of work or name

English

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publication date

June 2014

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published in

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volume

51

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issue

6

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page(s)

388-94

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cites work

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Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

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Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

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Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.

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Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children

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Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity

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Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy

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Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency

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Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa

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Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities

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Desmosomal genodermatoses

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Nuclear hormone receptor functions in keratinocyte and melanocyte homeostasis, epidermal carcinogenesis and melanomagenesis

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Steroid receptor coactivator (SRC) family: masters of systems biology

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Two distinct coactivators, DRIP/mediator and SRC/p160, are differentially involved in vitamin D receptor transactivation during keratinocyte differentiation

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Differential role of two VDR coactivators, DRIP205 and SRC-3, in keratinocyte proliferation and differentiation

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Regulation of human epidermal keratinocyte differentiation by the vitamin D receptor and its coactivators DRIP205, SRC2, and SRC3

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Vitamin D receptor and coactivators SRC2 and 3 regulate epidermis-specific sphingolipid production and permeability barrier formation

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Differential regulation of epidermal function by VDR coactivators

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SIP, a novel ankyrin repeat containing protein, sequesters steroid receptor coactivators in the cytoplasm

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Evidence for extensive locus heterogeneity in Naxos disease

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Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells

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Epidermal growth factor and the multiplication of cultured human epidermal keratinocytes

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Modulation of the vitamin D3 response by cancer-associated mutant p53

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A method and server for predicting damaging missense mutations

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Predicting the functional effect of amino acid substitutions and indels

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MutationTaster evaluates disease-causing potential of sequence alterations

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Vitamin D and the skin: Physiology and pathophysiology

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Analysis of the relation between alopecia and resistance to 1,25-dihydroxyvitamin D.

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Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning

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Physical and functional interaction between the vitamin D receptor and hairless corepressor, two proteins required for hair cycling

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The H syndrome is caused by mutations in the nucleoside transporter hENT3.

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The 1,25-dihydroxyvitamin D3-independent actions of the vitamin D receptor in skin

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Endocrine controls of keratin expression

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Steroid receptor coactivators 1, 2, and 3: critical regulators of nuclear receptor activity and steroid receptor modulator (SRM)-based cancer therapy

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Kank proteins: structure, functions and diseases

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A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations

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