keyword
https://read.qxmd.com/read/38014829/hailey-hailey-disease-is-associated-with-diabetes-a-population-based-cohort-study-clinical-cohort-study-and-pedigree-analysis
#1
JOURNAL ARTICLE
Philip Curman, William Jebril, Carmella Evans-Molina, Etty Bachar-Wikstrom, Henrik Larsson, Martin Cederlöf, Jakob D Wikström
Hailey-Hailey disease is a rare hereditary skin disease caused by mutations in the ATP2C1 gene encoding the secretory pathway Ca2+/Mn2+-ATPase 1 (SPCA1) protein. Extracutaneous manifestations of Hailey-Hailey disease are plausible but still largely unknown. The aim of this study was to explore the association between Hailey-Hailey disease and diabetes. A population-based cohort study of 347 individuals with Hailey-Hailey  disease was performed to assess the risks of type 1  diabetes and type 2 diabetes, using Swedish nationwide registries...
November 28, 2023: Acta Dermato-venereologica
https://read.qxmd.com/read/37846114/-establishment-of-a-prostate-cancer-prognostic-risk-model-based-on-the-tcga-database-and-inflammation-related-genes
#2
JOURNAL ARTICLE
Rong-Fang Zhong, Jun-Chao Wu, Jia-Cheng Ling, Jia-Lin Meng, Song Fan
OBJECTIVE: To investigate the effect of inflammation-related genes on the prognosis of prostate cancer (PCa). METHODS: We downloaded PCa-related clinical data and mRNA sequencing data from the database Cancer Genome Atlas (TCGA) and inflammation-related pathway gene sets from MsigDB. Using univariate regression and LASSO regression analyses, we screened inflammation-related genes for the construction of a prognostic risk model and evaluated the performance of the model in predicting the prognosis of PCa by Kaplan-Meier and ROC analyses...
November 2022: Zhonghua Nan Ke Xue, National Journal of Andrology
https://read.qxmd.com/read/37693160/circular-rna-atp2c1-has_circ_0005797-sponges-mir-432-mir-335-to-promote-breast-cancer-progression-through-regulating-ccnd1-expression
#3
JOURNAL ARTICLE
Caiping Chen, Jianju Lu, Wang Li, Xiang Lu
Breast cancer (BC) is the most frequently diagnosed malignancy in the world. Accumulating evidence has indicated that circular RNAs (circRNAs) play essential roles in BC. Here we investigated the biological functions of circATP2C as a competing endogenous RNA (ceRNA) in BC development. We found that circATP2C1 expression was upregulated in BC cells and tissues and was significantly associated with the poor overall survival in BC patients. CircATP2C1 is more resistant to RNase R exonuclease and Actinomycin D than is the linear mRNA of ATP2C1 ...
2023: American Journal of Cancer Research
https://read.qxmd.com/read/37558191/hailey-hailey-disease-successfully-treated-with-photodynamic%C3%A2-therapy-case-report
#4
Natalia Teplyuk, Anfisa Lepekhova, Ekaterina Dunaeva, Konstantin Smirnov, Anastasia Perunova
Hailey-Hailey disease (HHD) is a rare genetic benign condition resulting in blisters predominantly on the skin folds. The inheritance is autosomal dominant with complete penetrance, but a variable expressivity in affected family members. It can be triggered by a vast variety of factors such as sweating, weight gain, infection, trauma, pregnancy, and ultraviolet radiation, but the major cause of the disease is a mutation in the ATP2C1 gene. The lesions are typically distributed symmetrically within intertriginous regions such as the retroarticular folds, axillae, inguinal, and perianal regions and presents as flaccid vesicles and blisters on erythematous skin, giving rise to erosions, fissures, and vegetations...
August 8, 2023: Photodiagnosis and Photodynamic Therapy
https://read.qxmd.com/read/37550659/tetramethylpyrazine-ameliorates-endotoxin-induced-acute-lung-injury-by-relieving-golgi-stress-via-the-nrf2-ho-1-signaling-pathway
#5
JOURNAL ARTICLE
Shaona Li, Yexiang Xu, Simeng He, Xiangyun Li, Jia Shi, Bing Zhang, Youzhuang Zhu, Xiangkun Li, Yanting Wang, Cuicui Liu, Yang Ma, Shuan Dong, Jianbo Yu
PURPOSE: Endotoxin-induced acute lung injury (ALI) is a severe disease caused by an imbalanced host response to infection. It is necessary to explore novel mechanisms for the treatment of endotoxin-induced ALI. In endotoxin-induced ALI, tetramethylpyrazine (TMP) provides protection through anti-inflammatory, anti-apoptosis, and anti-pyroptosis effects. However, the mechanism of action of TMP in endotoxin-induced ALI remains unclear. Here, we aimed to determine whether TMP can protect the lungs by inhibiting Golgi stress via the Nrf2/HO-1 pathway...
August 7, 2023: BMC Pulmonary Medicine
https://read.qxmd.com/read/37342538/two-novel-and-a-recurrent-atp2c1-mutations-in-chinese-population-with-hailey-hailey-disease
#6
JOURNAL ARTICLE
Deng Zhang, Zhen Xiao, Xiaoliang Ouyang, Xiuping Wang, Yunxia Zhu, Simin Yu, Chunming Li
PURPOSE: Hailey-Hailey disease (HHD), also known as familial benign chronic pemphigus, is a rare autosomal dominant inherited blistering dermatosis. Pathogenic variants in ATP2C1 have been associated with HHD since 2000. This study aimed to identify the mutations in the ATP2C1 gene in two Chinese pedigrees and two sporadic cases with HHD. PATIENTS AND METHODS: Two Chinese pedigrees and two sporadic cases were included in this study. Whole-exome sequencing and Sanger sequencing were performed to detect the mutation of the ATP2C1 gene...
2023: Clinical, Cosmetic and Investigational Dermatology
https://read.qxmd.com/read/37306722/znf384-related-fusion-genes-in-acute-lymphoblastic-leukemia
#7
REVIEW
Liwen Zhu, Wenke Bai, Qianyi Cheng, Jianpei Fang
Zinc finger protein 384 ( ZNF384 ) encodes a C2H2-type zinc finger protein that can function as a transcription factor. ZNF384 rearrangement in acute lymphoblastic leukemia (ALL) was first reported in 2002. More than 19 different ZNF384 fusion partners have been detected in ALL. These include E1A-binding protein P300 ( EP300 ), CREB-binding protein ( CREBBP ), transcription factor 3 ( TCF3 ), TATA-box binding protein associated factor 15 ( TAF15 ), Ewing sarcoma breakpoint region 1 gene ( EWSR1 ), AT-rich interactive domain-containing protein 1B ( ARID1B ), SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4 ( SMARCA4 ), SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2 ( SMARCA2 ), synergin gamma ( SYNRG ), clathrin heavy chain ( CLTC ), bone morphogenic protein 2-inducible kinase ( BMP2K ), Nipped-B-like protein ( NIPBL ), A Kinase Anchoring Protein 8 ( AKAP8 ), Chromosome 11 Open Reading Frame 74 ( C11orf74 ), DEAD-Box Helicase 42 ( DDX42 ), ATP Synthase F1 Subunit Gamma ( ATP2C1 ), Euchromatic Histone Lysine Methyltransferase 1 ( EHMT1 ), Testic Expressed 41 ( TEX41 ), etc...
2023: Cancer Control: Journal of the Moffitt Cancer Center
https://read.qxmd.com/read/37059921/effect-of-long-non-coding-rna-and-dna-methylation-on-gene-expression-in-dental-fluorosis
#8
JOURNAL ARTICLE
Xiaoyan Hu, Huiru Li, Minzhi Yang, Yujiong Chen, Ailin Zeng, Jiayuan Wu, Jian Zhang, Yuan Tian, Jing Tang, Shengyan Qian, Mingsong Wu
In the process of tooth development, the interaction between genetic information, epigenetic inheritance, and environment jointly affects the teeth formation. At present, the mechanism of dental fluorosis is rarely studied from transcriptomics, and there is no report on epigenetic perspective. In the study, SD rats were randomly divided into dental fluorosis group and control group fed with NaF (150 mg/L) or distilled water for 8 weeks. After 3.5 days of birth, the RNAs or DNA of rat mandibular molars were detected by RNA-seq or MethylTarget, respectively...
April 14, 2023: Biological Trace Element Research
https://read.qxmd.com/read/36922631/two-sporadic-cases-of-childhood-onset-hailey-hailey-disease-with-superimposed-mosaicism
#9
JOURNAL ARTICLE
Yasuhiko Asahina, Umi Tahara, Satomi Aoki, Kazuhiko Nakabayashi, Chiharu Tateishi, Daisuke Hayashi, Masayuki Amagai, Daisuke Tsuruta, Akiharu Kubo
A prenatal second-hit genetic change that occurs on the wild-type allele in an embryo with a congenital pathogenic variant allele results in mosaicism of monoallelic and biallelic defect of the gene, which is called superimposed mosaicism. Superimposed mosaicism of Hailey-Hailey disease (HHD) has been demonstrated in one familial case. Here, we report two unrelated HHD cases with superimposed mosaicism: a congenital monoallelic pathogenic variant of ATP2C1, followed by a postzygotic copy-neutral loss of heterozygosity...
March 15, 2023: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/36910591/mendelian-disorders-in-an-interstitial-cystitis-bladder-pain-syndrome-cohort
#10
JOURNAL ARTICLE
Elicia Estrella, Shira Rockowitz, Marielle Thorne, Pressley Smith, Jeanette Petit, Veronica Zehnder, Richard N Yu, Stuart Bauer, Charles Berde, Pankaj B Agrawal, Alan H Beggs, Ali G Gharavi, Louis Kunkel, Catherine A Brownstein
Interstitial cystitis/bladder pain syndrome (IC/BPS) is a chronic pain disorder causing symptoms of urinary frequency, urgency, and bladder discomfort or pain. Although this condition affects a large population, little is known about its etiology. Genetic analyses of whole exome sequencing are performed on 109 individuals with IC/BPS. One family has a previously reported  SIX5  variant (ENST00000317578.6:c.472G>A, p.Ala158Thr), consistent with Branchiootorenal syndrome 2 (BOR2). A likely pathogenic heterozygous variant in  ATP2A2  (ENST00000539276...
March 2023: Advanced genetics
https://read.qxmd.com/read/36867705/cryo-em-structures-of-human-spca1a-reveal-the-mechanism-of-ca-2-mn-2-transport-into-the-golgi-apparatus
#11
JOURNAL ARTICLE
Zhenghao Chen, Satoshi Watanabe, Hironori Hashida, Michio Inoue, Yasukazu Daigaku, Masahide Kikkawa, Kenji Inaba
Secretory pathway Ca2+ /Mn2+ ATPase 1 (SPCA1) actively transports cytosolic Ca2+ and Mn2+ into the Golgi lumen, playing a crucial role in cellular calcium and manganese homeostasis. Detrimental mutations of the ATP2C1 gene encoding SPCA1 cause Hailey-Hailey disease. Here, using nanobody/megabody technologies, we determined cryo-electron microscopy structures of human SPCA1a in the ATP and Ca2+ /Mn2+ -bound (E1-ATP) state and the metal-free phosphorylated (E2P) state at 3.1- to 3.3-Å resolutions. The structures revealed that Ca2+ and Mn2+ share the same metal ion-binding pocket with similar but notably different coordination geometries in the transmembrane domain, corresponding to the second Ca2+ -binding site in sarco/endoplasmic reticulum Ca2+ -ATPase (SERCA)...
March 3, 2023: Science Advances
https://read.qxmd.com/read/36789506/loss-of-atp2c1-function-promotes-trafficking-and-degradation-of-notch1-implications-for-hailey-hailey-disease
#12
JOURNAL ARTICLE
Azzurra Zonfrilli, Federica Truglio, Alessandra Simeone, Maria Pelullo, Valeria De Turris, Dario Benelli, Saula Checquolo, Diana Bellavia, Rocco Palermo, Daniela Uccelletti, Isabella Screpanti, Samantha Cialfi, Claudio Talora
Hailey-Hailey Disease (HHD) is a rare autosomal dominantly inherited disorder caused by mutations in the ATP2C1 gene that encodes an adenosine triphosphate (ATP)-powered calcium channel pump. HHD is characterized by impaired epidermal cell-to-cell adhesion and defective keratinocyte growth/differentiation. The mechanism by which mutant ATP2C1 causes HHD is unknown and current treatments for affected individuals do not address the underlying defects and are ineffective. Notch signaling is a direct determinant of keratinocyte growth and differentiation...
February 14, 2023: Experimental Dermatology
https://read.qxmd.com/read/36578782/garp-dysfunction-results-in-copi-displacement-depletion-of-golgi-v-snares-and-calcium-homeostasis-proteins
#13
JOURNAL ARTICLE
Amrita Khakurel, Tetyana Kudlyk, Irina Pokrovskaya, Zinia D'Souza, Vladimir V Lupashin
Golgi-associated retrograde protein (GARP) is an evolutionary conserved heterotetrameric protein complex that tethers endosome-derived vesicles and is vital for Golgi glycosylation. Microscopy and proteomic approaches were employed to investigate defects in Golgi physiology in RPE1 cells depleted for the GARP complex. Both cis and trans -Golgi compartments were significantly enlarged in GARP-knock-out (KO) cells. Proteomic analysis of Golgi-enriched membranes revealed significant depletion of a subset of Golgi residents, including Ca2+ binding proteins, enzymes, and SNAREs...
2022: Frontiers in Cell and Developmental Biology
https://read.qxmd.com/read/36442136/subcellular-compartmentalization-of-stim1-for-the-distinction-of-darier-disease-from-hailey-hailey-disease
#14
JOURNAL ARTICLE
Hedwig Stanisz, Christina Mitteldorf, Helena Janning, Anette Bennemann, Michael P Schön, Jorge Frank
BACKGROUND AND OBJECTIVES: Darier disease (DD) and Hailey-Hailey disease (HHD) are rare disorders caused by mutations in the ATPase, Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2 (ATP2A2) and ATPase Ca2+ Transporting Type 2C, Member 1 (ATP2C1) gene, respectively, which lead to a disturbance of calcium metabolism in keratinocytes. Clinically, this is reflected by an impairment of keratinization. Histologically, acantholysis with variable degrees of dyskeratosis and parakeratosis is observed...
November 28, 2022: Journal der Deutschen Dermatologischen Gesellschaft: JDDG
https://read.qxmd.com/read/36276960/case-report-difference-in-outcomes-between-two-cases-of-hailey-hailey-disease-treated-with-apremilast
#15
Misako Yamaga, Toshinari Miyauchi, Jin Teng Peh, Sota Itamoto, Yosuke Mai, Hiroaki Iwata, Toshifumi Nomura, Hideyuki Ujiie
Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis clinically characterized by recurrent erythematous plaques and erosions mainly on the intertriginous regions. Although HHD seriously affects quality of life, conventional treatments often fail to provide long-term relief for most patients. The effectiveness of apremilast, a phosphodiesterase-4 inhibitor, against severe HHD was first reported in 2018, and after further testing, this agent is currently expected to be established as an efficacious and safe therapeutic option...
2022: Frontiers in Genetics
https://read.qxmd.com/read/36254249/the-pathogenic-mechanism-of-the-atp2c1-p-ala109_gln120del-mutation-in-hailey-hailey-disease
#16
JOURNAL ARTICLE
Peiyao Li, Jialin Qi, Baishun Zhou, Ting Ding, Juan Long, Heng Xiao
Background: Hailey-Hailey disease (HHD) is an autosomal dominant cutaneous disorder that manifests as repeated blisters and erosions on flexural or intertriginous skin areas. The calcium-transporting ATPase type 2C member 1 gene ( ATP2C1 ) encodes the secretory pathway Ca2+ /Mn2+ -ATPase 1 (SPCA1), whose deficiency is responsible for HHD. An ATP2C1 splice-site mutation (c.325-2A>G, p.Ala109_Gln120del) was previously identified in a Han Chinese family with HHD. Methods: In this study, the identified ATP2C1 splice-site mutation (c...
2022: Clinical, Cosmetic and Investigational Dermatology
https://read.qxmd.com/read/36074695/anti-desmoglein-1-antibody-positive-mother-and-antibody-negative-child-with-darier-s-disease
#17
JOURNAL ARTICLE
Ami Kawaguchi, Mitsuhiro Matsuda, Hiroshi Koga, Chika Ohata, Takahiro Hamada, Hiroyuki Mishima, Koh-Ichiro Yoshiura, Masatoshi Jinnin, Hironori Minami, Nobuo Kanazawa
We report a mother and an adult son with Darier's disease. The mother, 76 years old and Japanese, had positivity for anti-desmoglein (Dsg)1 antibodies. She had erythema with hyperkeratosis and seborrheic and interstitial blistering. A high level of anti-Dsg1 antibodies was detected in the serum. Histopathological examination showed acantholysis and direct immunofluorescence testing revealed intercellular IgG and C3 deposition of the epidermis. Although she was diagnosed as having pemphigus foliaceus, the skin lesions slightly improved with immunosuppressive therapy...
September 8, 2022: Journal of Dermatology
https://read.qxmd.com/read/35787370/calcium-and-the-ca-atpase-spca1-modulate-plasma-membrane-abundance-of-zip8-and-zip14-to-regulate-mn-ii-uptake-in-brain-microvascular-endothelial-cells
#18
JOURNAL ARTICLE
Brittany L Steimle, Danielle K Bailey, Frances M Smith, Shaina L Rosenblum, Daniel J Kosman
Manganese (II) accumulation in human brain microvascular endothelial cells is mediated by the metal-ion transporters ZRT IRT-like protein 8 (ZIP8) and ZRT IRT-like protein 14 (ZIP14). The plasma membrane occupancy of ZIP14, in particular, is increased in cells treated with Mn2+ , lipopolysaccharide, or IL-6, but the mechanism of this regulation has not been elucidated. The calcium-transporting type 2C member 1 ATPase, SPCA1, is a Golgi-localized Ca2+ -uptake transporter thought to support Golgi uptake of Mn2+ also...
August 2022: Journal of Biological Chemistry
https://read.qxmd.com/read/34805786/genome-wide-crispr-cas9-screens-identify-mechanisms-of-bet-bromodomain-inhibitor-sensitivity
#19
JOURNAL ARTICLE
David Estoppey, Gabi Schutzius, Christian Kolter, Adrian Salathe, Tiffany Wunderlin, Amandine Meyer, Florian Nigsch, Tewis Bouwmeester, Dominic Hoepfner, Susan Kirkland
BET bromodomain inhibitors hold promise as therapeutic agents in diverse indications, but their clinical progression has been challenging and none have received regulatory approval. Early clinical trials in cancer have shown heterogeneous clinical responses, development of resistance, and adverse events. Increased understanding of their mechanism(s) of action and identification of biomarkers are needed to identify appropriate indication(s) and achieve efficacious dosing. Using genome-wide CRISPR-Cas9 screens at different concentrations, we report molecular mechanisms defining cellular responses to BET inhibitors, some of which appear specific to a single compound concentration...
November 19, 2021: IScience
https://read.qxmd.com/read/34569085/two-cases-of-hailey-hailey-disease-effectively-treated-with-apremilast-and-a-review-of-reported-cases
#20
REVIEW
Ayumi Yoto, Teruhiko Makino, Megumi Mizawa, Yu Matsui, Keita Takemoto, Fumina Furukawa, Kazuya Kataoka, Hajime Nakano, Daisuke Sawamura, Tadamichi Shimizu
Hailey-Hailey disease (HHD) is an autosomal dominant genetic disease caused by a mutation of the ATP2C1 gene. Corticosteroids, antibiotics or cyclosporine have been administered to reduce inflammation and prevent flare-ups, but the efficacy is not always sufficient. We herein report two cases of HHD effectively treated with apremilast and review the previous literature. Patient 1 was a 28-year-old male and patient 2 was a 35-year-old female. Both patients were diagnosed with HHD based on histological and genetic analyses...
December 2021: Journal of Dermatology
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