Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
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Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey diseasePemphigus vulgaris antibody identifies pemphaxin. A novel keratinocyte annexin-like molecule binding acetylcholineSERCA1 truncated proteins unable to pump calcium reduce the endoplasmic reticulum calcium concentration and induce apoptosis.DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24.How do keratinizing disorders and blistering disorders overlap?Chamber Specific Gene Expression Landscape of the Zebrafish HeartTRP Channels in Skin Biology and PathophysiologyJagged-1 mutation analysis in Italian Alagille syndrome patientsMutations of either or both Cys876 and Cys888 residues of sarcoplasmic reticulum Ca2+-ATPase result in a complete loss of Ca2+ transport activity without a loss of Ca2+-dependent ATPase activity. Role of the CYS876-CYS888 disulfide bondThree novel sarco/endoplasmic reticulum Ca2+-ATPase (SERCA) 3 isoforms. Expression, regulation, and function of the membranes of the SERCA3 familyMutation analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey diseaseIdentification, expression, function, and localization of a novel (sixth) isoform of the human sarco/endoplasmic reticulum Ca2+ATPase 3 genePlasticity and adaptation of Ca2+ signaling and Ca2+-dependent exocytosis in SERCA2(+/-) mice.Gene knockout studies of Ca2+-transporting ATPasesGenetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarizationIntracellular Ca2+ signaling and store-operated Ca2+ entry are required in Drosophila neurons for flightUpregulation of P-cadherin expression in the lesional skin of pemphigus, Hailey-Hailey disease and Darier's disease.Immunohistological study of involucrin expression in Darier's disease skin.Management of Darier's disease.The coexistence of Darier's disease and Hailey-Hailey disease symptoms.Endoplasmic reticulum calcium pumps and cancer cell differentiation.Genetics of bipolar disorder.Mapping complex traits in diseases of the hair and skin.A novel genodermatosis caused by mutations in plakophilin 1, a structural component of desmosomes.Endoplasmic reticulum calcium, stress, and cell-to-cell adhesion.Spectrum of novel ATP2A2 mutations in patients with Darier's disease.Parallel adaptive divergence among geographically diverse human populations.Acantholytic dyskeratotic acanthoma: case report and review of the literature.SERCaMP: a carboxy-terminal protein modification that enables monitoring of ER calcium homeostasisSarco(endo)plasmic reticulum calcium pumps: recent advances in our understanding of structure/function and biology (review).Searching for candidate genes in the new millennium.Keratinocyte adhesion and the missing link: from Dowling-Meara to Hay-Wells. St John's Hospital Dermatological Society Annual Oration 2000.Desmosomes: structure and function in normal and diseased epidermis.The genetics of human skin disease.Desmosome assembly and dynamicsDarier's (Darier-White) disease/keratosis follicularis.Endoplasmic reticulum Ca2+ depletion activates XBP1 and controls terminal differentiation in keratinocytes and epidermis.Genetic or epigenetic difference causing discordance between monozygotic twins as a clue to molecular basis of mental disorders.Plasma membrane Ca-ATPases in the nervous system during development and ageingOptimisation of recombinant production of active human cardiac SERCA2a ATPase
P2860
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P2860
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
description
1999 nî lūn-bûn
@nan
1999 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մարտին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
@ast
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
@en
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
@en-gb
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
@nl
type
label
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
@ast
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
@en
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
@en-gb
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
@nl
prefLabel
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
@ast
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
@en
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
@en-gb
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
@nl
P2093
P3181
P356
P1433
P1476
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
@en
P2093
A P Monaco
A Sakuntabhai
M O'Donovan
N Craddock
N Jacobsen
R Kucherlapati
P2888
P3181
P356
10.1038/6784
P407
P577
1999-03-01T00:00:00Z
P5875
P6179
1035730216