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Fez1山羊多克隆抗体(ab53562)可与人样本反应并经WB实验严格验证,被1篇文献引用。中国75%以上现货,所有产品均提供质保服务,可通过电话、电邮或微信获得本地专属技术支持。
Hereditary multiple exostosis (HME) / Hereditäre Multiple Exostose, Multiple exostosis disease, Multiple cartilagenous exostoses, Multiple osteochondroma, Multiple cartilagenous exostosis, Diaphyseal aclasis, Endochondromatosis
: Hereditary multiple exostoses (HME) is a rare genetic disorder, which can be associated with severe complications that may significantly affect the health-related quality of life (HRQL). Our primary objective was to describe the baseline HRQL in HM
by Barbara Stranger, Qiyuan Li, Ji-Heui Seo, Aaron McKenna, Itsik Peer, Thomas LaFramboise, Myles Brown, Svitlana Tyekucheva, Matthew L. Freedman Germline determinants of gene expression in tumors are infrequently studied due to the complexity of transcript regulation caused by somatically acquired alterations. We performed expression quantitative trait locus (eQTL)-based analyses using the multi-level information provided in The Cancer Genome Atlas (TCGA). Of the factors we measured, cis-acting eQTLs accounted for 1.2% of the total variation of tumor gene expression, while somatic copy-number alteration and CpG methylation accounted for 7.3% and 3.3%, respectively. eQTL analyses of 15 previously reported breast cancer risk loci resulted in the discovery of three variants that are significantly associated with transcript levels (false discovery rate [FDR] < 0.1). Our trans-based analysis identified an additional three risk loci to act through ESR1, MYC, and KLF4. These findings provide a more ...
Figure 1 -- Multiple bony thoracic sessile & pedunculated osteochondromas. Note the abnormal dysplastic bones. The underlying inferior aspect of the posterior 6th rib ...
kabuki syndrome - I am from south Africa and i have a son with kabuki syndrome. I want to know if there is other moms with kids with this...
TY - JOUR. T1 - Prognostic value of AML 1/ETO fusion transcripts in patients with acute myelogenous leukemia.. AU - Cho, Eun Kyung. AU - Bang, Soo Mee. AU - Ahn, Jeong Yeal. AU - Yoo, Seung Min. AU - Park, Pil Whan. AU - Seo, Yieh Hea. AU - Shin, Dong Bok. AU - Lee, Jae Hoon. PY - 2003/1/1. Y1 - 2003/1/1. N2 - BACKGROUND: The t (8;21) (q22;q22), which produces the fusion gene AML1/ETO, is associated with relatively good prognosis and, in particular, with a good response to cytosine arabinoside. Analysis of t (8;21) positive leukemic blasts has shown characteristic morphological and immunological features. We performed this study to investigate the incidence of AML1/ETO rearrangement in adult acute myelogenous leukemia (AML), especially in M2 subtype, to make a comparison of clinical, morphological and immunophenotypic characteristics between AML1/ETO rearrangement positive and negative group in patients with AML and to analyze the correlation with other biological parameters. METHODS: From May ...
TY - JOUR. T1 - Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. AU - Sobreira, Nara. AU - Brucato, Martha. AU - Zhang, Li. AU - Ladd-Acosta, Christine Marie. AU - Ongaco, Chrissie. AU - Romm, Jane. AU - Doheny, Kimberly. AU - Mingroni-Netto, Regina C.. AU - Bertola, Debora. AU - Kim, Chong A.. AU - Perez, Ana Ba. AU - Melaragno, Maria I.. AU - Valle, David. AU - Meloni, Vera A.. AU - Bjornsson, Hans Tomas. PY - 2017/12/1. Y1 - 2017/12/1. N2 - Kabuki syndrome is a monogenic disorder caused by loss of function variants in either of two genes encoding histone-modifying enzymes. We performed targeted sequencing in a cohort of 27 probands with a clinical diagnosis of Kabuki syndrome. Of these, 12 had causative variants in the two known Kabuki syndrome genes. In 2, we identified presumptive loss of function de novo variants in KMT2A (missense and splice site variants), a gene that encodes another histone modifying enzyme previously exclusively associated with ...
Kabuki Syndrome. Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature.The specific symptoms associated with Kabuki syndrome can vary greatly from one person to another. The first gene is KMT2D (formerly MLL2) and the second gene, which accounts for fewer cases of Kabuki syndrome, is KDM6A. Clinical genetic testing is available for both genes. Kabuki syndrome was first reported in medical literature in 1981 by Japanese physicians. The disorder was originally called Kabuki-makeup syndrome because the facial features of many affected children resembled the makeup used by actors in kabuki, a form of Japanese theater. The term "makeup" has since been dropped and the preferred term for the disorder is Kabuki syndrome.. Signs and Symptoms Some symptoms of Kabuki syndrome are present at birth (congenital). Other symptoms become ...
Build: Sat Feb 17 08:59:16 EST 2018 (commit: 16064c5). National Center for Advancing Translational Sciences (NCATS), 6701 Democracy Boulevard, Bethesda MD 20892-4874 • 301-435-0888. ...
Tspyl2 - mouse gene knockout kit via CRISPR, 1 kit. |dl||dt|Kit Component:|/dt||dd|- |strong|KN318369G1|/strong|, Tspyl2 gRNA vector 1 in |a href=http://www.origene.com/CRISPR-CAS9/Detail.
Bethesda, Md., Sun., Aug. 15, 2010 - Using a new, rapid and less expensive DNA sequencing strategy, scientists have discovered genetic alterations that account for most cases of Kabuki syndrome, a rare disorder that causes multiple birth defects and mental retardation. Instead of sequencing the entire human genome, the new approach sequences just the exome, the 1-2 percent of the human genome that contains protein-coding genes.. Kabuki syndrome, which has an estimated incidence of 1 in 32,000 births, was originally described by Japanese scientists in 1981. Patients with the disorder often have distinct facial features that resemble the make-up worn by actors of Kabuki, a Japanese theatrical form.. The work, published in todays advanced online edition of Nature Genetics, was carried out by scientists at the University of Washington in Seattle as part of a larger effort to use second generation DNA sequencing technologies in new ways to identify genes for rare disorders. The project is funded ...
TY - JOUR. T1 - MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome. AU - Paulussen, Aimee D. C.. AU - Stegmann, Alexander P. A.. AU - Blok, Marinus J.. AU - Tserpelis, Demis. AU - Posma-Velter, Crool. AU - Detisch, Yvonne. AU - Smeets, Eric E. J. G. L.. AU - Wagemans, Annemieke M. A.. AU - Schrander, Jaap J. P.. AU - van den Boogaard, Marie Jose H.. AU - van der Smagt, Jasper J.. AU - van Haeringen, Arie. AU - Stolte-Dijkstra, Irene. AU - Kerstjens-Frederikse, Wilhelmina S.. AU - Mancini, Grazia M. S.. AU - Wessels, Marja W.. AU - Hennekam, Raoul C. M.. AU - Vreeburg, Maaike. AU - Geraedts, Joep. AU - de Ravel, Thomy. AU - Fryns, Jean-Pierre. AU - Smeets, Hubert J T. AU - Devriendt, Koenraad. AU - Schrander-Stumpel, Constance T. R. M.. PY - 2011/2. Y1 - 2011/2. KW - Kabuki syndrome. KW - KS. KW - MLL2. KW - histone methyl transferase. U2 - 10.1002/humu.21416. DO - 10.1002/humu.21416. M3 - Article. VL - 32. SP - E2018-E2025. JO - Human Mutation. JF - Human Mutation. SN - 1059-7794. IS - ...
Objective This study describes 5 novel variants of 7 KMT2D/KDM6A gene and summarizes the clinical manifestations and the mutational spectrum of 47 Chinese Kabuki syndrome (KS) patients.
Notice: This site is no longer being actively maintained. While much of the information is still relevant, some of it has become out-of-date.. There are several Facebook groups. Just search "Kabuki syndrome" from within Facebook.. For a current site see one of the following:. http://allthingskabuki.org ...
Notice: This site is no longer being actively maintained. While much of the information is still relevant, some of it has become out-of-date.. There are several Facebook groups. Just search "Kabuki syndrome" from within Facebook.. For a current site see one of the following:. http://allthingskabuki.org ...
Zeng, C., Guo, X., Long, J., Kuchenbaecker, K.B., Droit, A., Michailidou, K., Ghoussaini, M., Kar, S., Freeman, A., Hopper, J.L., Milne, R.L., Bolla, M.K., Wang, Q., Dennis, J., Agata, S., Ahmed, S., Aittomaki, K., Andrulis, I.L., Anton-Culver, H., Antonenkova, N.N., Arason, A., Arndt, V., Arun, B.K., Arver, B., Bacot, F., Barrowdale, D., Baynes, C., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Blomqvist, C., Blot, W.J., Bogdanova, N.V., Bojesen, S.E., Bonanni, B., Borresen-Dale, A.-L., Brand, J.S., Brauch, H., Brennan, P., Brenner, H., Broeks, A., Brüning, T., Burwinkel, B., Buys, S.S., Cai, Q., Caldes, T., Campbell, I., Carpenter, J., Chang-Claude, J., Choi, J.Y., Claes, K.B.M., Clarke, C., Cox, A., Cross, S.S., Czene, K., Daly, M.B., de la Hoya, M., De Leeneer, K., Devilee, P., Diez, O., Domchek, S.M., Doody, M.M., Dorfling, C.M., Dörk, T., Dos Santos Silva, I., Dumont, M., Dwek, M., Dworniczak, B., Egan, K.M., Eilber, U., Einbeigi, Z., Ejlertsen, B., Ellis, S., Frost, D., Lalloo, F., ...
Loss of RUNX1/ETO Triggers C/EBPα-Driven Reorganization of the Leukemic Transcriptional Network(A) RUNX1/ETO and CEBPA mRNA expression levels in Kasumi-1 cells
购买PINX1山羊多克隆抗体(ab2344),PINX1抗体经WB验证,可与人样本反应。1篇文献引用,产品出库一年都在质保范围内。中国现货速达。