TY - JOUR. T1 - Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. AU - Kagami, Masayo. AU - Sekita, Yoichi. AU - Nishimura, Gen. AU - Irie, Masahito. AU - Kato, Fumiko. AU - Okada, Michiyo. AU - Yamamori, Shunji. AU - Kishimoto, Hiroshi. AU - Nakayama, Masahiro. AU - Tanaka, Yukichi. AU - Matsuoka, Kentarou. AU - Takahashi, Tsutomu. AU - Noguchi, Mika. AU - Tanaka, Yoko. AU - Masumoto, Kouji. AU - Utsunomiya, Takeshi. AU - Kouzan, Hiroko. AU - Komatsu, Yumiko. AU - Ohashi, Hirofumi. AU - Kurosawa, Kenji. AU - Kosaki, Kenjiro. AU - Ferguson-Smith, Anne C.. AU - Ishino, Fumitoshi. AU - Ogata, Tsutomu. PY - 2008/2. Y1 - 2008/2. N2 - Human chromosome 14q32.2 carries a cluster of imprinted genes including paternally expressed genes (PEGs) such as DLK1 and RTL1 and maternally expressed genes (MEGs) such as MEG3 (also known as GTL2), RTL1as (RTL1 antisense) and MEG8 (refs. 1,2), together with the intergenic ...
浜松市城西浄化センターにおけるMBRの初期運転について (第46回下水道研究発表会講演集) (2009 ...
Definition of robertsonian translocation in the Legal Dictionary - by Free online English dictionary and encyclopedia. What is robertsonian translocation? Meaning of robertsonian translocation as a legal term. What does robertsonian translocation mean in law?
Robertsonian translocations (RBT) are associated with an increased risk of aneuploidy. Single RBT carriers are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. However, double Robertsonian translocations (DRBT), in which two balanced RBT occur simultaneously, are an extremely rare condition. A 9-year-old mentally normal ...
A Robertsonian translocation is a chromosomal abnormality that generally doesnt cause health problems. However, it can affect pregnancy, especially when it results in a fetus with a genetic condition that is incompatible with life. Well tell you what you can do if you have or suspect you have this translocation.
It is clear that, although we have learned much about the biology of MM, many questions remain. All of the available data suggest that IgH translocations are present in a majority (∼50-60%) of tumors, yet are not sufficient to exert the full malignant potential of the clone. Although early dysregulation of cyclin D1, D2, or D3 may represent a unifying event, it seems likely that two distinct pathways exist in the pathogenesis of MM. One pathway appears to involve an early IgH translocation that usually includes one of the four recurrent partners (11q13, 4p16, 16q23, 6p21), and mostly is associated with a nonhyperdiploid chromosome content. The second pathway infrequently, if ever, involves an early IgH translocation but mostly is associated with a hyperdiploid chromosome content, perhaps a reflection of intrinsic genetic instability, although we have virtually no understanding of this pathway. The timing and nature of additional genetic events that are involved in early pathogenesis is ...
It is clear that, although we have learned much about the biology of MM, many questions remain. All of the available data suggest that IgH translocations are present in a majority (∼50-60%) of tumors, yet are not sufficient to exert the full malignant potential of the clone. Although early dysregulation of cyclin D1, D2, or D3 may represent a unifying event, it seems likely that two distinct pathways exist in the pathogenesis of MM. One pathway appears to involve an early IgH translocation that usually includes one of the four recurrent partners (11q13, 4p16, 16q23, 6p21), and mostly is associated with a nonhyperdiploid chromosome content. The second pathway infrequently, if ever, involves an early IgH translocation but mostly is associated with a hyperdiploid chromosome content, perhaps a reflection of intrinsic genetic instability, although we have virtually no understanding of this pathway. The timing and nature of additional genetic events that are involved in early pathogenesis is ...
I am a 42-year-old woman struggling with infertility from a Robertsonian Translocation. My husband is 36 and we have been trying to get pregnant for two years
I am a 42-year-old woman struggling with infertility from a Robertsonian Translocation. My husband is 36 and we have been trying to get pregnant for two years
Enables deprecated DOS compatible mode, in this mode library checks for cylinders boundary, cases about CHS addressing and another obscure things.. ...
Hi there, I am researching chromosome 2 fusion theory. The theory that chromosome 2 and 3 was fused by a Robertsonian Translocation in two human-chimp common ancestors which mated giving us our chromosome 2 and 46 chromosomes instead of the other higher primates 48.. I was attempting to understand what the odds of this occurring were, to which end I want to know the odds that a chimp baby will be born with this mutation. I understand that 1 in 1000 human babies are born with a Robertsonian Translocation, is it the same for chimps?. ...
TY - JOUR. T1 - Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13. AU - Stetten, G.. AU - Tuck-Muller, C. M.. AU - Blakemore, Karin. AU - Wong, C.. AU - Kazazian, Haig. AU - Antonarakis, S. E.. PY - 1990. Y1 - 1990. UR - http://www.scopus.com/inward/record.url?scp=0025670533&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0025670533&partnerID=8YFLogxK. M3 - Article. C2 - 2077349. AN - SCOPUS:0025670533. VL - 7. SP - 479. EP - 484. JO - Molecular Biology and Medicine. JF - Molecular Biology and Medicine. SN - 0735-1313. IS - 6. ER - ...
Chromosome translocations in peripheral blood lymphocytes of normal, healthy humans increase with age, but the effects of gender, race, and cigarette smoking on background translocation yields have not been examined systematically. Further, the shape of the relationship between age and translocation frequency (TF) has not been definitively determined. We collected existing data from 16 laboratorie
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Looking for online definition of Robertsonian in the Medical Dictionary? Robertsonian explanation free. What is Robertsonian? Meaning of Robertsonian medical term. What does Robertsonian mean?
A familial lympho-epithelial thymoma with constitutional chromosomal translocation t (14;20) (q24;p13) is presented: the thymoma and its particular translocation are present in the mother and the two sons of her offspring. The small number of cases do not allow establishing any relation between thymoma and this particular translocation. Concerning genetic counseling, an annual thoracic radiography is necessary for all the other family members, carriers or not of the translocation.
IGH translocations induce up-regulation of different oncogenes order propecia 1 mg on line hair loss 6 months after giving birth, it is Learning Objectives possible that all IGH translocations involved in MM converge on a ● To understand that myeloma should no longer be considered common pathway that is essential in the pathogenesis of the disease as a single entity and cause the inhibition of differentiation and an increase in cell ● To understand that better tools for diagnosis and monitoring survival and proliferation order 5 mg propecia with visa hair loss in men quilters. Gene expression profiling (GEP) analysis treatment efficacy are being implemented has demonstrated that expression of the cyclin proteins (CCND1, ● To understand that the treatment goal is to find the best CCND2, and CCND3) is increased in almost all MM patients, possible balance among efficacy, toxicity, and cost supporting the hypothesis that there is a potential unifying event in its pathogenesis. The ...
Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Kosaki K, Ferguson-Smith AC, Ishino F, Ogata T. Deletions imprinted region: implications for the development of paternal and maternal upd(14)-likeand epimutations affecting the human chromosome 14q32.2 phenotypes. Nat Genet 40: 237-242, ...
TY - JOUR. T1 - Impact of primary molecular cytogenetic abnormalities and risk of progression in smoldering multiple myeloma. AU - Rajkumar, S. V.. AU - Gupta, V.. AU - Fonseca, R.. AU - Dispenzieri, A.. AU - Gonsalves, W. I.. AU - Larson, D.. AU - Ketterling, R. P.. AU - Lust, J. A.. AU - Kyle, R. A.. AU - Kumar, S. K.. PY - 2013/8/1. Y1 - 2013/8/1. N2 - We studied 351 patients with smoldering multiple myeloma (SMM) in whom the underlying primary molecular cytogenetic subtype could be determined based on cytoplasmic immunoglobulin fluorescent in situ hybridization studies. Hundred and fifty-four patients (43.9%) had trisomies, 127 (36.2%) had immunoglobulin heavy chain (IgH) translocations, 14 (4%) both trisomies and IgH translocations, 53 (15.1%) no abnormalities detected and 3 (0.9%) had monosomy13/del(13q) in the absence of any other abnormality. Among 127 patients with IgH translocations, 57 were t(11;14), 36 t(4;14), 11 musculoaponeurotic fibrosarcoma (MAF) translocations, and 23 other or ...
Author Summary Each time a mammalian cell duplicates its genome in preparation for cell division it activates thousands of so called
Background:This study was conducted to analyze the frequency, expression patterns, and the impact of individual proteins BCL2, BCL6, and p53 on overall survival (OS) in adult, diffuse large B-cell lymphoma (DLBCL) Patients. BCL2 gene was further investigated for potential alterations at the DNA level and correlated with OS. Materials and Methods: A total of 117 adult well-characterized DLBCL cases were included. The panel of antibodies comprised CD45, CD20, CD79a, CD3, BCL2, BCL6, and p53. PCR was also employed to correlate the events at the DNA level in BCL2. Results: The mean and median ages were 47.74 and 49 with a M:F ratio of 2.07:1. The incidence of BCL2, BCL6, and p53 expression was observed in 64.10%, 37.60%, and 52.13% of cases, respectively. Amplifiable quality DNA was available from 90 cases. BCL2/IGH translocation was found in 35/90 Patients (38.88%) with 24 cases showing BCL2 (MBR)/IGH and 11 cases BCL2 (mcr)/IGH translocation. No association between BCL2 overexpression and BCL2 /IGH
The chromosomal translocation t(1;19)(q23;p13) and its variant form der(19)t(1;19) found in 3-5% of acute lymphoblastic leukemia (ALL) results in the expression of the E2A-PBX1 fusion transcript. Although strongly associated with a pre-B immunophenotype, we report the occurrence of t(1;19) in bone m …
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When a fusion sequence combines upper-case and lower-case nucleotides, this indicates the approximate location of the boundary between both partner genes ...
When a fusion sequence combines upper-case and lower-case nucleotides, this indicates the approximate location of the boundary between both partner genes ...
Translocation is the exchange of chromosome segments, usually between nonhomologous chromosomes. There are two primary types of translocations: reciprocal translocations and Robertsonian translocations. A reciprocal translocation occurs when segments from nonhomologous chromosomes break off, with segment attaching to the other chromosome and vice-versa. A Robertsonian translocation occurs when two acrocentric chromosomes (chromosomes with tiny short arms, meaning the centromere is near one end) fuse at the centromere and lose their short arms.. Reciprocal translocations usually involve only two chromosomes, meaning the total chromosome number is unchanged. Reciprocal translocation are typically harmless, despite being more common in individuals so retarded that they require institutional care. There are three kinds of reciprocal translocation: alternate; adjacent-1; and adjacent-2.. Robertsonian translocations lead to a balanced karyotype with only 45 chromosomes. Because acrocentric short arms ...
A Robertsonian translocation 45,XY, t(13q; 14q) was detected in the leukocyte cultures of a phenotypically normal male. Silver staining technique for nucleolus organizer regions revealed that both acrocentrics involved in the translocation had lost their nucleolus organizers.
TY - JOUR. T1 - Mantle cell lymphoma with a novel t(11;12)(q13;p11.2). T2 - a proposed alternative mechanism of CCND1 up-regulation. AU - Menke, Joshua R.. AU - Vasmatzis, George. AU - Murphy, Stephen. AU - Yang, Lin. AU - Menke, David M.. AU - Tun, Han W. AU - King, Rebecca. AU - Smoley, Stephanie A.. AU - Ketterling, Rhett P.. AU - Sukov, William R.. PY - 2017/6/1. Y1 - 2017/6/1. N2 - Mantle cell lymphoma (MCL) is typically characterized by t(11;14), which places the [email protected] enhancer elements upstream of CCND1. This fusion results in up-regulation of CCND1 and consequently its protein product cyclin D1. Recent studies have shown that in MCL, mutations or translocations occurring within the 3′ untranslated region (UTR) of the CCND1 gene can result in a truncated mRNA transcript that is more stable and associated with more aggressive disease. We identified a case of MCL showing cyclin D1 overexpression by immunohistochemistry and a t(11;12)(q13;p11.2) by conventional cytogenetic studies. ...
Syvanen M, Ducore J. Whole genome comparisons reveals a possible chimeric origin for a major metazoan assemblage. Journal of Biological Systems, (18) 261-75. 2010. Zunino SJ, Storms DH, Ducore JM. Novel in vivo model of inducible multi-drug resistance in acute lymphoblastic leukemia with chromosomal translocation t(4;11). Cancer Lett. 2010 Oct 1;296(1):49-54. Epub 2010 Apr 9.. Zunino SJ, Storms DH, Ducore JM. Parthenolide treatment activates stress signaling proteins in high-risk acute lymphoblastic leukemia cells with chromosomal translocation t(4;11). Int J Oncol. 2010 Nov;37(5):1307-13.. Gofman I, Ducore JM. Risk Factors for the Development of Obesity in Children Surviving ALL and NHL. Journal of Pediatric Hematologyl Oncology, 31(2): 101-107. 2008. Zunino SJ, Ducore JM, Storms DH. Parthenolide induces significant apoptosis and production of reactive oxygen species in high-risk pre-B leukemia cells. Cancer Letters, 254(1): 119-27. 2007. Winter S, Holdsworth MT, Devidas M, Raisch OW, ...
Do You Have Follicular Lymphoma? Join friendly people sharing true stories in the I Have Follicular Lymphoma group. Find forums, advice and chat with groups who share this life experience. A Follicular Lymphoma anonymous support group with informatio...
Robertsonian translocation: Two breaks occur in separate chromosomes, usually the 14th and 21st chromosomes. There is rearrangement of the genetic material so that some of the 14th chromosome is replaced by extra 21st chromosome. So while the number of chromosomes remain normal, there is a triplication of the 21st chromosome material ...
Changes in how follicular lymphoma is managed have led to substantial improvement in prognosis and over all survival for patients with the disease.
For patients with Relapsed/Refractory Follicular Lymphoma, second-line therapies are often successful in providing another remission.
New Insights into Transformed Follicular Lymphoma from the National LymphoCare Study - From the Blood Journals, News - ASH Clinical News
FDA granted approval to Bayer Healthcare Pharmaceuticals inhibitor Aliqopa (copanlisib) for the treatment of adults with relapsed follicular lymphoma.
After a fairly normal and easy labor and delivery, Cal made his debut! He wasnt breathing well on his own and needed respiratory support. Because we knew he might be born with some abnormalities, we had lots of doctors ready to care for him right when he was born. A heart echo was one of the things they did right away, and the results came back showing quite a few defects with his little heart. At that point it was pretty clear he had the unbalanced chromosome translocation, but the microarray test results confirming this would take over a week to get back ...
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