keyword
MENU ▼
Read by QxMD icon Read
search

ATP2C1

keyword
https://www.readbyqxmd.com/read/29915578/non-desmoglein-antibodies-in-patients-with-pemphigus-vulgaris
#1
REVIEW
Kyle T Amber, Manuel Valdebran, Sergei A Grando
Pemphigus vulgaris (PV) is a potentially life-threatening mucocutaneous autoimmune blistering disease. Patients develop non-healing erosions and blisters due to cell-cell detachment of keratinocytes (acantholysis), with subsequent suprabasal intraepidermal splitting. Identified almost 30 years ago, desmoglein-3 (Dsg3), a Ca2+ -dependent cell adhesion molecule belonging to the cadherin family, has been considered the "primary" autoantigen in PV. Proteomic studies have identified numerous autoantibodies in patients with PV that have known roles in the physiology and cell adhesion of keratinocytes...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29865954/a-case-of-hailey-hailey-disease-managed-with-oral-magnesium-citrate-and-high-dose-vitamin-d-3
#2
Kaien Gu, Shane Silver
Hailey-Hailey disease, or benign familial pemphigus, is a rare blistering disease originally described in 1939. The disease is due to an autosomal dominant mutation in the ATP2C1 gene on chromosome 3, which encodes for an adenosine triphosphate-dependent calcium pump in the Golgi apparatus whose function is to maintain intercellular calcium homeostasis. Common treatments for Hailey-Hailey disease involve calcineurin inhibitors, topical corticosteroids, topical or systemic antibiotics, topical antifungals, ablative lasers, or botulin toxin...
May 2018: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/29705999/mild-hailey-hailey-disease-cases-with-aberrant-splicing-variants-of-atp2c1-successfully-controlled-with-excimer-light
#3
LETTER
M Kono, M Niizawa, T Takeichi, Y Muro, M Akiyama
No abstract text is available yet for this article.
April 28, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29104283/identification-of-2-novel-mutations-in-atp2c1-gene-in-hailey-hailey-disease-and-a-literature-review-of-variations-in-a-chinese-han-population
#4
Kejia Xu, Bingjun Shi, Qingchun Diao, Xue Jiang, Yujuan Xiao
BACKGROUND Hailey-Hailey disease (HHD) is a rare autosomal dominant skin condition. The ATP2C1 gene was identified as the defective gene in HHD. To date, 166 pathogenic mutations in ATP2C1 have been observed worldwide. The aim of this study was to identify variations in HHD and summarize the features of the mutations identified in China. MATERIAL AND METHODS We examined 2 familial and 2 sporadic cases of HHD. Genomic DNA polymerase chain reaction and direct sequencing of the ATP2C1 were performed from HHD patients, unaffected family members, and 200 healthy individuals...
November 6, 2017: Medical Science Monitor Basic Research
https://www.readbyqxmd.com/read/28966528/a-case-of-hailey-hailey-disease-with-a-novel-nonsense-mutation-in-the-atp2c1-gene
#5
Hazuki Yasuda, Nobuo Kanazawa, Mitsuhiro Matsuda, Takahiro Hamada, Minao Furumura, Takashi Hashimoto, Takekuni Nakama, Fukumi Furukawa
No abstract text is available yet for this article.
October 2017: Annals of Dermatology
https://www.readbyqxmd.com/read/28692648/zebrafish-slc30a10-deficiency-revealed-a-novel-compensatory-mechanism-of-atp2c1-in-maintaining-manganese-homeostasis
#6
Zhidan Xia, Jiayu Wei, Yingniang Li, Jia Wang, Wenwen Li, Kai Wang, Xiaoli Hong, Lu Zhao, Caiyong Chen, Junxia Min, Fudi Wang
Recent studies found that mutations in the human SLC30A10 gene, which encodes a manganese (Mn) efflux transporter, are associated with hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC). However, the relationship between Mn metabolism and HMDPC is poorly understood, and no specific treatments are available for this disorder. Here, we generated two zebrafish slc30a10 mutant lines using the CRISPR/Cas9 system. Compared to wild-type animals, mutant adult animals developed significantly higher systemic Mn levels, and Mn accumulated in the brain and liver of mutant embryos in response to exogenous Mn...
July 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28653466/hailey-hailey-disease-due-to-atp2c1-splice-site-mutation-successfully-treated-with-minocycline-hydrochloride
#7
M Kono, M Niizawa, T Takeichi, Y Muro, M Akiyama
Hailey-Hailey disease (HHD) is an autosomal dominant disease characterized by acantholysis and caused by ATP2C1.(1) Here, we report the first case of HHD successfully treated with minocycline alone in which the diagnosis was confirmed by gene analysis. This article is protected by copyright. All rights reserved.
June 27, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28583421/gene-expression-profiles-in-mouse-cumulus-cells-derived-from-in-vitro-matured-oocytes-with-and-without-blastocyst-formation
#8
Yixin Xu, Tuanping Zhou, Li Shao, Bei Zhang, Kailu Liu, Chao Gao, Li Gao, Jiayin Liu, Yugui Cui, Ri-Cheng Chian
Cumulus cells (CCs) are considered as an important source to predict oocyte quality. Despite numerous candidate genes in CCs have been identified for embryonic developmental competence, the results are inconsistent. The next generation RNA-sequencing was used to investigate the transcriptomic differences in CCs from in vitro matured oocytes did or did not develop to blastocyst stage following in vitro fertilization (IVF). In our study, the corresponding mouse oocytes were traced using a single-cell tracking system, and CCs were pooled into groups based on the embryonic developmental outcomes...
November 2017: Gene Expression Patterns: GEP
https://www.readbyqxmd.com/read/28551824/the-role-of-the-atp2c1-gene-in-hailey-hailey-disease
#9
REVIEW
Hao Deng, Heng Xiao
Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis, characterized by a chronic course of repeated and exacerbated skin lesions in friction regions. The pathogenic gene of HHD was reported to be the ATPase calcium-transporting type 2C member 1 gene (ATP2C1) located on chromosome 3q21-q24. Its function is to maintain normal intracellular concentrations of Ca2+ /Mn2+ by transporting Ca2+ /Mn2+ into the Golgi apparatus. ATP2C1 gene mutations are reportedly responsible for abnormal cytosolic Ca2+ /Mn2+ levels and the clinical manifestations of HHD...
October 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28300154/corrigendum-the-loss-of-atp2c1-impairs-the-dna-damage-response-and-induces-altered-skin-homeostasis-consequences-for-epidermal-biology-in-hailey-hailey-disease
#10
Samantha Cialfi, Loredana Le Pera, Carlo De Blasio, Germano Mariano, Rocco Palermo, Azzurra Zonfrilli, Daniela Uccelletti, Claudio Palleschi, Gianfranco Biolcati, Luca Barbieri, Isabella Screpanti, Claudio Talora
No abstract text is available yet for this article.
March 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28035777/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
#11
REVIEW
Ruud G L Nellen, Peter M Steijlen, Maurice A M van Steensel, Maaike Vreeburg, Jorge Frank, Michel van Geel
The two disorders of cornification associated with mutations in genes coding for intracellular calcium pumps are Darier disease (DD) and Hailey-Hailey disease (HHD). DD is caused by mutations in the ATP2A2 gene, whereas the ATP2C1 gene is associated with HHD. Both are inherited as autosomal-dominant traits. DD is mainly defined by warty papules in seborrheic and flexural areas, whereas the major symptoms of HHD are vesicles and erosions in flexural skin. Both phenotypes are highly variable. In 12%-40% of DD patients and 12%-55% of HHD patients, no mutations in ATP2A2 or ATP2C1 are found...
April 2017: Human Mutation
https://www.readbyqxmd.com/read/27695354/management-of-familial-benign-chronic-pemphigus
#12
REVIEW
Harleen Arora, Fleta N Bray, Jessica Cervantes, Leyre A Falto Aizpurua
Benign familial chronic pemphigus or Hailey-Hailey disease is caused by an autosomal dominant mutation in the ATP2C1 gene leading to suprabasilar acantholysis. The disease most commonly affects intertriginous areas symmetrically. The chronic nature of the disease and multiple recurrences make the disease bothersome for patients and a treatment challenge for physicians. Treatments include topical and/or systemic agents and surgery including laser. This review summarizes the available treatment options.
2016: Clinical, Cosmetic and Investigational Dermatology
https://www.readbyqxmd.com/read/27528123/the-loss-of-atp2c1-impairs-the-dna-damage-response-and-induces-altered-skin-homeostasis-consequences-for-epidermal-biology-in-hailey-hailey-disease
#13
Samantha Cialfi, Loredana Le Pera, Carlo De Blasio, Germano Mariano, Rocco Palermo, Azzurra Zonfrilli, Daniela Uccelletti, Claudio Palleschi, Gianfranco Biolcati, Luca Barbieri, Isabella Screpanti, Claudio Talora
Mutation of the Golgi Ca(2+)-ATPase ATP2C1 is associated with deregulated calcium homeostasis and altered skin function. ATP2C1 mutations have been identified as having a causative role in Hailey-Hailey disease, an autosomal-dominant skin disorder. Here, we identified ATP2C1 as a crucial regulator of epidermal homeostasis through the regulation of oxidative stress. Upon ATP2C1 inactivation, oxidative stress and Notch1 activation were increased in cultured human keratinocytes. Using RNA-seq experiments, we found that the DNA damage response (DDR) was consistently down-regulated in keratinocytes derived from the lesions of patients with Hailey-Hailey disease...
August 16, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27523793/glutathione-s-transferase-%C3%AF-subunit-as-a-phenotypic-suppressor-of-pmr1%C3%AE-strain-the-kluyveromyces-lactis-model-for-hailey-hailey-disease
#14
G Ficociello, E Zanni, S Cialfi, C Aurizi, G Biolcati, C Palleschi, C Talora, D Uccelletti
BACKGROUND: Hailey-Hailey disease (HHD), also known as familial benign chronic pemphigus, is a rare, chronic and recurrent blistering disorder, histologically characterized by suprabasal acantholysis. HHD has been linked to mutations in ATP2C1, the gene encoding the human adenosine triphosphate (ATP)-powered calcium channel pump. METHODS: In this work, the genetically tractable yeast Kluyveromyces lactis has been used to study the molecular basis of Hailey-Hailey disease...
November 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27510943/exacerbation-of-hailey-hailey-disease-by-topiramate
#15
LETTER
A Alkhalifah, H Montaudié, J-P Lacour, M Lantéri-Minet, T Passeron
No abstract text is available yet for this article.
April 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/27277681/atp2c1-gene-mutations-in-hailey-hailey-disease-and-possible-roles-of-spca1-isoforms-in-membrane-trafficking
#16
REVIEW
M Micaroni, G Giacchetti, R Plebani, G G Xiao, L Federici
ATP2C1 gene codes for the secretory pathway Ca(2+)/Mn(2+)-ATPase pump type 1 (SPCA1) localizing at the golgi apparatus. Mutations on the human ATP2C1 gene, causing decreased levels of the SPCA1 expression, have been identified as the cause of the Hailey-Hailey disease, a rare skin disorder. In the last few years, several mutations have been described, and here we summarize how they are distributed along the gene and how missense mutations affect protein expression. SPCA1 is expressed in four different isoforms through alternative splicing of the ATP2C1 gene and none of these isoforms is differentially affected by any of these mutations...
June 9, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27095120/four-novel-atp2c1-mutations-in-chinese-patients-with-hailey-hailey-disease
#17
Hongwen Li, Lan Chen, Aihua Mei, Luzhu Chen, Yaqin Xu, Wei Hu, Yingying Dong, Yanhong Zhang, Tingmei Wang, Dongxian Liu, Yunhua Deng
Hailey-Hailey disease (HHD) is a kind of autosomal dominant dermatosis. The ATP2C1 gene has been identified as the pathogenic gene of HHD since 2000. In this study, direct DNA sequencing was used to identify ATP2C1 gene mutations in four Chinese families and two sporadic cases with HHD. The entire coding and flanking intronic sequences of ATP2C1 were screened for mutations and five heterozygous mutations of the ATP2C1 gene were detected in the four pedigrees and two sporadic cases with HHD. Four of them were novel, including three frame-shift mutations (c...
October 2016: Journal of Dermatology
https://www.readbyqxmd.com/read/27038757/secretory-pathway-ca-2-atpase-isoform-1-knockdown-promotes-golgi-apparatus-stress-injury-in-a-mouse-model-of-focal-cerebral-ischemia-reperfusion-in-vivo-and-in-vitro-study
#18
Yongmei Fan, Changjie Zhang, Wenna Peng, Ting Li, Jing Yin, Ying Kong, Chunna Lan, Xiaofang Li, Rumi Wang, Zhiping Hu
The present study was designed to investigate the potential role of secretory pathway Ca(2+)-ATPase isoform 1(SPCA1) in experimental focal cerebral ischemia-reperfusion injury. Cerebral ischemia-reperfusion was induced by transient middle cerebral artery occlusion (MCAO) for 2h s in Sprague-Dawley rats, and then the expression levels of SPAC1 mRNA and protein were determined. Results showed that SPCA1 level was transiently increased 1 day after reperfusion in peri-infarction area, while markedly increased in infarction core on 3day and 7 day after reperfusion...
July 1, 2016: Brain Research
https://www.readbyqxmd.com/read/26608610/calcium-atpases-gene-disorders-and-dysregulation-in-cancer
#19
REVIEW
Donna Dang, Rajini Rao
Ca(2+)-ATPases belonging to the superfamily of P-type pumps play an important role in maintaining low, nanomolar cytoplasmic Ca(2+) levels at rest and priming organellar stores, including the endoplasmic reticulum, Golgi, and secretory vesicles with high levels of Ca(2+) for a wide range of signaling functions. In this review, we introduce the distinct subtypes of Ca(2+)-ATPases and their isoforms and splice variants and provide an overview of their specific cellular roles as they relate to genetic disorders and cancer, with a particular emphasis on recent findings on the secretory pathway Ca(2+)-ATPases (SPCA)...
June 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/26535622/a-framework-radiation-hybrid-map-of-buffalo-chromosome-1-ordering-scaffolds-from-buffalo-genome-sequence-assembly
#20
N B Stafuzza, B C M Naressi, E Yang, J J Cai, M E J Amaral-Trusty
River buffalo chromosome 1 (BBU1) is a sub-metacentric chromosome homologous to bovine chromosomes 1 and 27. In this study, we constructed a new framework radiation hybrid (RH) map from BBU1 using BBURH5000 panel adding nine new genes (ADRB3, ATP2C1, COPB2, CRYGS, P2RY1, SLC5A3, SLC20A2, SST, and ZDHHC2) and one microsatellite (CSSM043) to the set of markers previously mapped on BBU1. The new framework RH map of BBU1 contained 141 markers (55 genes, 2 ESTs, 10 microsatellites, and 74 SNPs) distributed within one linkage group spanning 2832...
2015: Genetics and Molecular Research: GMR
keyword
keyword
35951
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"