Results 101 to 110 of about 2,278 (176)

Clinical case of acral hemorrhagic Darier's disease is not caused by mutations in exon 15 of the ATP2A2 gene.

Collegium antropologicum, 2003
Darier's disease (Dyskeratosis follicularis, DD) is a genetic disorder characterized by pathogenetic changes of keratinization with variant forms of cutaneous phenotype. Recently, it has been showed that Darier's disease cause mutations in the ATP2A2 gene, at 12q24.1.
Pećina-Šlaus, Nives, Milavec-Puretić, Višnja, Kubat, Milovan, Furač, Ivana, Karija, Monika, Fischer-Žigmund, Martina, Lipozenčić, Jasna   +6 more
openaire   +6 more sources

Transcriptional Response to Acute Thermal Exposure in Juvenile Chinook Salmon Determined by RNAseq. [PDF]

, 2015
Thermal exposure is a serious and growing challenge facing fish species worldwide. Chinook salmon (Oncorhynchus tshawytscha) living in the southern portion of their native range are particularly likely to encounter warmer water due to a confluence of ...
Baerwald, Melinda R, Fangue, Nann A, May, Bernie P, Meek, Mariah H, Rincón, Gonzalo, Stephens, Molly R, Tomalty, Katharine MH   +6 more
core  

Severe Darier’s disease in a 39-year-old patient

Przegląd Dermatologiczny, 2019
Dorota Kozłowska, Teresa Reduta, Joanna Bacharewicz-Szczerbicka, Iwona Flisiak   +3 more
doaj   +1 more source

Acrokeratosis verruciformis of Hopf: A rare presentation in a young Indian female—A case report and review

Journal of Family Medicine and Primary Care
Acrokeratosis verruciformis of Hopf (AVH) is a rare dermatological disorder associated with keratotic lesions primarily on the dorsal surfaces of the hands and feet, caused by a missense mutation in the ATP2A2 gene.
Gyanendra Singh, Parth Goswami, Yashdeep Pathania, Tarang Pate   +3 more
doaj   +1 more source

Statistical data mining for symbol associations in genomic databases

, 2013
A methodology is proposed to automatically detect significant symbol associations in genomic databases. A new statistical test is proposed to assess the significance of a group of symbols when found in several genesets of a given database.
Fournié, Jean-Jacques, Pont, Frédéric, Ycart, Bernard   +2 more
core   +3 more sources

ATP2A2 Gene [PDF]

, 2020
openaire   +1 more source

Inflammatory myopathies in a patient with Darier\'s disease, a possible association

Caspian Journal of Internal Medicine, 2018
Background: Darier disease (DD) is an autosomal dominant genetic disorder which develops from a mutation in the ATP2A2 gene. Inflammatory myopathies (IM) are the largest group of potentially treatable myopathies. In this case, we report development of IM
Kaveh Gharaeinejad, Hojat Eftekhari, rana rafiei, Abbas Darjani, Narges Alizadeh   +4 more
doaj  

Ensembl 2014 [PDF]

, 2014
Ensembl (http://www.ensembl.org) creates tools and data resources to facilitate genomic analysis in chordate species with an emphasis on human, major vertebrate model organisms and farm animals.
Aken, BL, Amode, MR, Barrell, D, Beal, K, Billis, K, Birney, E, Brent, S, Carvalho-Silva, D, Clapham, P, Coates, G, Cunningham, F, Fitzgerald, S, Flicek, P, Gil, L, Girón, CG, Gordon, L, Harrow, J, Herrero, J, Hourlier, T, Hubbard, TJP, Hunt, S, Johnson, N, Juettemann, T, Keenan, S, Kinsella, R, Kulesha, E, Kähäri, AK, Martin, FJ, Maurel, T, McLaren, WM, Muffato, M, Murphy, DN, Nag, R, Overduin, B, Parker, A, Pignatelli, M, Pritchard, B, Pritchard, E, Riat, HS, Ruffier, M, Searle, SMJ, Sheppard, D, Spudich, G, Taylor, K, Thormann, A, Trevanion, SJ, Vullo, A, Wilder, SP, Wilson, M, Yates, A, Zadissa, A, Zerbino, DR   +51 more
core  

LEP and FOXO1 genes, as a proposed tumor suppressor autophagic cell death related genes, can be targeted by antidiabetic therapy in nondiabetic breast cancer patients

Discover Oncology
Introduction Breast cancer can be treated effectively with personalized, gene-targeted therapies due to its molecular and genetic differences. Our study aims to identify breast cancer-specific tumor suppressor genes related to autophagic cell death and ...
Gizem Ayna Duran, Yağmur Kiraz, Deniz Baykara   +2 more
doaj   +1 more source

Novel Point Mutations of the ATP2A2 Gene in Two Chinese Families with Darier Disease [PDF]

Journal of Investigative Dermatology, 2001
Yang, Yong, Li, Guanqun, Bu, Dingfang, Zhu, Xuejun   +3 more
openaire   +1 more source