Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept.
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ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane traffickingPiecing together the puzzle of cutaneous mosaicism.Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease.A case of linear porokeratosis superimposed on disseminated superficial actinic porokeratosis.The secretory pathway calcium ATPase PMR-1/SPCA1 has essential roles in cell migration during Caenorhabditis elegans embryonic development.Multiple cutaneous and uterine leiomyomatosis syndrome: a review.Cutaneous mosaicism: right before our eyes.Segmental vitiligo as the possible expression of cutaneous somatic mosaicism: implications for common non-segmental vitiligo.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.What is the biological basis of pattern formation of skin lesions?The role of the ATP2C1 gene in Hailey-Hailey disease.The loss of ATP2C1 impairs the DNA damage response and induces altered skin homeostasis: Consequences for epidermal biology in Hailey-Hailey disease.Molecular evidence of type 2 mosaicism in Gorlin syndrome.Type 2 segmental Hailey-Hailey disease with systematized bilateral arrangement.Genetic diagnosis in a Chinese Hailey-Hailey disease pedigree with novel ATP2C1 gene mutation.[Segmental type 1 manifestation of Darier disease. An example of cutaneous mosaicism].[How frequently does genetic mosaicism occur in the skin?].The categories of cutaneous mosaicism: A proposed classification.Embryonic left-right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians.Yeast-Based Screen to Identify Natural Compounds with a Potential Therapeutic Effect in Hailey-Hailey Disease.
P2860
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P2860
Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept.
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
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name
Allelic loss underlies type 2 ...... on of a novel genetic concept.
@en
Allelic loss underlies type 2 ...... on of a novel genetic concept.
@nl
type
label
Allelic loss underlies type 2 ...... on of a novel genetic concept.
@en
Allelic loss underlies type 2 ...... on of a novel genetic concept.
@nl
prefLabel
Allelic loss underlies type 2 ...... on of a novel genetic concept.
@en
Allelic loss underlies type 2 ...... on of a novel genetic concept.
@nl
P2093
P2860
P356
P1476
Allelic loss underlies type 2 ...... on of a novel genetic concept.
@en
P2093
Albert Rübben
Arne König
Frank K Jugert
Hans F Merk
Jorge Frank
Pamela Poblete-Gutiérrez
Rudolf Happle
Tonio Wiederholt
Yvonne Marquardt
P2860
P304
P356
10.1172/JCI21791
P407
P577
2004-11-01T00:00:00Z