المؤلفون: Lama Altawil, MD, Hind Alshihry, MD, Huda Alfaraidi, MD, Amal Alhashem, MD, Ahmed Alhumidi, MD, Fowzan S. Alkuraya, MD

المصدر: JAAD Case Reports, Vol 14, Iss , Pp 55-58 (2021)

مصطلحات موضوعية: EKVP4, genodermatosis, harlequin, ichthyoses, 3-ketodihydrosphingosine reductase, KDSR, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352512621004197; https://doaj.org/toc/2352-5126

URL الوصول: https://doaj.org/article/cf36b756682243ac95ea146b7cf53755

المؤلفون: Li Wu, Yajie Zhang, Juan Zi, Yinyan Yan, Lihua Yu, Danna Lin, Lulu Huang, Xiaorong Lai, Xu Liao, Lihua Yang

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: KDSR, keratodermia, thrombocytopenia, children, case report, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.940618/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/53618fb12c7e48d6852a8573347722a0

المؤلفون: Mitev, Lubomir, Grachlyova, Lilya, Asenova, Aselina

المساهمون: Military Medical Academy, Department of Cytogenetics and Molecular Biology, Sofia, Bulgaria

مصطلحات موضوعية: Chromosome 2, chromosome 18, IGK, KDSR, Follicular lymphoma, Diffuse large B-cell lymphoma, Burkitt lymphoma, Chronic lymphocytic leukemia, Leukaemia Section, Animals, Endothelial Cells/*metabolism, Inflammation/chemically induced/genetics/metabolism, Lipopolysaccharides/toxicity, Lysophospholipids/genetics/*metabolism, Mice, Transgenic, Receptors, Lysosphingolipid/genetics/*metabolism, Recombinant Fusion Proteins/genetics/metabolism, Sphingosine/*analogs &, derivatives/genetics/metabolism, Adolescent, Adult, Age Factors, Age

Relation: Atlas of Genetics and Cytogenetics in Oncology and Haematology; http://AtlasGeneticsOncology.org/Anomalies/t0218p11q21IGKBCL2KDSRID1461.html; Lubomir, Mitev; Lilya, Grachlyova; Aselina, Asenova. t(2;18)(p11;q21)IGK/BCL2 and IGK/KDSR. Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2018, 11, p. 443-447; http://hdl.handle.net/2042/68968; https://doi.org/10.4267/2042/68968

الاتاحة: http://hdl.handle.net/2042/68968
https://doi.org/10.4267/2042/68968

المؤلفون: Takeichi, Takuya, Torrelo, Antonio, Lee, John Y. W., Ohno, Yusuke, Lozano, María Luisa, Kihara, Akio, Liu, Lu, Yasuda, Yuka, Ishikawa, Junko, Murase, Takatoshi, Rodrigo, Ana Belén, Fernández-Crehuet, Pablo, Toi, Yoichiro, Mellerio, Jemima E., Rivera, José, Vicente, Vicente, Kelsell, David P., Nishimura, Yutaka, Okuno, Yusuke, Kojima, Daiei, Ogawa, Yasushi, Sugiura, Kazumitsu, Simpson, Michael A., McLean, W. H. Irwin, Akiyama, Masashi, McGrath, John A.

المصدر: Takeichi , T , Torrelo , A , Lee , J Y W , Ohno , Y , Lozano , M L , Kihara , A , Liu , L , Yasuda , Y , Ishikawa , J , Murase , T , Rodrigo , A B , Fernández-Crehuet , P , Toi , Y , Mellerio , J E , Rivera , J , Vicente , V , Kelsell , D P , Nishimura , Y , Okuno , Y , Kojima , D , Ogawa , Y , Sugiura , K , Simpson , M A , ....

مصطلحات موضوعية: Keratoderma, Ichthyosis, Thrombocytopenia, KDSR, Ceramide

وصف الملف: application/pdf

Relation: https://discovery.dundee.ac.uk/en/publications/fb18779c-cb78-4888-9fed-2ed5531f7c6e

الاتاحة: https://discovery.dundee.ac.uk/en/publications/fb18779c-cb78-4888-9fed-2ed5531f7c6e
https://doi.org/10.1016/j.jid.2017.06.028
https://discovery.dundee.ac.uk/ws/files/19052267/1_s2.0_S0022202X17327331_main.pdf

المؤلفون: Boyden, Lynn M., Vincent, Nicholas G., Zhou, Jing, Hu, Ronghua, Craiglow, Brittany G., Bayliss, Susan J., Rosman, Ilana S., Lucky, Anne W., Diaz, Luis A., Goldsmith, Lowell A., Paller, Amy S., Lifton, Richard P., Baserga, Susan J., Choate, Keith A.

المصدر: The American Journal of Human Genetics, 100(6)

مصطلحات موضوعية: Humans, genome sequencing, RNA Splicing, TSC10, Mutation, inversion, Intermediate Filament Proteins, Keratosis, Genes, Recessive, skin, isotretinoin, KDSR, ichthyosis, Ceramides, Alcohol Oxidoreductases, Genetic Predisposition to Disease, Genetic Complementation Test, Polymorphism, Single Nucleotide, erythrokeratoderma, ceramide, splicing, Heterozygote

Relation: https://doi.org/10.17615/b4zx-va72; https://cdr.lib.unc.edu/downloads/0k225h34f?file=thumbnail; https://cdr.lib.unc.edu/downloads/0k225h34f

الاتاحة: https://doi.org/10.17615/b4zx-va72
https://cdr.lib.unc.edu/downloads/0k225h34f?file=thumbnail
https://cdr.lib.unc.edu/downloads/0k225h34f