Mosaicism for ATP2A2 mutations causes segmental Darier's disease.
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TRP Channels in Skin Biology and PathophysiologyPiecing together the puzzle of cutaneous mosaicism.The genetics of human skin disease.Darier's (Darier-White) disease/keratosis follicularis.The molecular genetics of the genodermatoses: progress to date and future directions.Acantholytic dyskeratotic naevi following Blaschko's lines: a mosaic form of Darier's disease.Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease.Pigmentary nevi on face have unique patterns and implications: The concept of Blaschko's lines for pigmentary nevi.Dyskeratosis follicularis disease: case reports and review of the literature.Adolescent Onset of Localized Papillomatosis, Lymphedema, and Multiple Beta-Papillomavirus Infection: Epidermal Nevus, Segmental Lymphedema Praecox, or Verrucosis? A Case Report and Case Series of Epidermal NeviLocalized Darier's disease in a Blaschkoid distribution: two cases of phenotypic mosaicism and a review of mosaic Darier's disease.Case for diagnosis: Linear Darier.Linear morphoea follows Blaschko's lines.Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept.Hypopigmented segmental Darier disease.Darier disease.Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease.The role of the ATP2C1 gene in Hailey-Hailey disease.Dissection of the functional differences between sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) 1 and 2 isoforms and characterization of Darier disease (SERCA2) mutants by steady-state and transient kinetic analyses.Linear Darier's disease: A case with bilateral presentation.Grover's disease following multiple bilateral Blaschko lines: a rare clinical presentation with genetic and electron microscopic analyses.Distinct types of abnormality in kinetic properties of three Darier disease-causing sarco(endo)plasmic reticulum Ca2+-ATPase mutants that exhibit normal expression and high Ca2+ transport activity.Dohi Memorial Lecture. New aspects of cutaneous mosaicism.First symposium on natural gene therapy of the skin.Linear Darier disease with herpes zoster superinfection treated successfully by brivudine.Dohi memorial lecture. Heredity and environment in dermatological diseases.[Segmental type 1 manifestation of Darier disease. An example of cutaneous mosaicism].Darier's disease: hopes and challenges.Comprehensive analysis of expression and function of 51 sarco(endo)plasmic reticulum Ca2+-ATPase mutants associated with Darier disease.Segmental type 1 Darier disease: a case series highlighting late-onset disease.Darier's disease restricted to sun-exposed areas.A Japanese case of segmental Darier's disease caused by mosaicism for the ATP2A2 mutation.Case for diagnosis. Linear Darier's diseaseDisorders of Keratinization
P2860
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P2860
Mosaicism for ATP2A2 mutations causes segmental Darier's disease.
description
2000 nî lūn-bûn
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2000年の論文
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2000年学术文章
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2000年学术文章
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2000年学术文章
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2000年学术文章
@zh-my
2000年学术文章
@zh-sg
2000年學術文章
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name
Mosaicism for ATP2A2 mutations causes segmental Darier's disease.
@en
type
label
Mosaicism for ATP2A2 mutations causes segmental Darier's disease.
@en
prefLabel
Mosaicism for ATP2A2 mutations causes segmental Darier's disease.
@en
P2093
P1476
Mosaicism for ATP2A2 mutations causes segmental Darier's disease.
@en
P2093
Dhitavat J
Sakuntabhai A
P304
P356
10.1046/J.1523-1747.2000.00182.X
P407
P577
2000-12-01T00:00:00Z
P5875
P6179
1037066266