TY - JOUR. T1 - A stul polymorphism on chromosome 3p14.1 -14.2 (D3S622) defined by two polymorphic stul sites 2.4 kb apart. AU - Secore, S. L.. AU - Walker, A. P.. AU - Herbstreith, M. H.. AU - Siddique, T.. AU - Jeffers, A. J.. AU - Deshields, T. R.. AU - Speer, H. C.. AU - Pericak-vance, M. A.. AU - Golembieski, W. A.. AU - Smith, David I. AU - Hung, W. Y.. AU - Yamaoka, L. H.. AU - Roses, A. D.. AU - Bartlett, R. J.. PY - 1991/11/25. Y1 - 1991/11/25. UR - http://www.scopus.com/inward/record.url?scp=0026001211&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0026001211&partnerID=8YFLogxK. U2 - 10.1093/nar/19.22.6349. DO - 10.1093/nar/19.22.6349. M3 - Article. C2 - 1956809. AN - SCOPUS:0026001211. VL - 19. SP - 6349. JO - Nucleic Acids Research. JF - Nucleic Acids Research. SN - 0305-1048. IS - 22. ER - ...
Authors: Sarah L Spain, Luis G Carvajal-Carmona, Kimberley M Howarth, Angela M Jones, Zhan Su, Jean-Baptiste Cazier, Jennet Williams, Lauri A Aaltonen, Paul Pharoah, David J Kerr, Jeremy Cheadle, Li Li, Graham Casey, Pavel Vodicka, Oliver Sieber, Lara Lipton, Peter Gibbs, Nicholas G Martin, Grant W Montgomery, Joanne Young, Paul N Baird, Hans Morreau, Tom van Wezel, Clara Ruiz-Ponte, Ceres Fernandez-Rozadilla, Angel Carracedo, Antoni Castells, Sergi Castellvi-Bel, Malcolm Dunlop, Richard S Houlston, Ian PM Tomlinson
This software draws an image for one chromosomal rearrangement.. Enter the description of ONE rearrangement (in numbers: 1; it is exactly 1, not 2, not 3!) giving raise to one or more derivative chromosome(s) in the text field below, select the desired map viewer with which chromosomal bands are to be linked, banding resolution and color style, then click "Draw". The CyDAS software will then compute an image map containing the ideogram(s) of the derivative chromosome, with links to the NCBI or Ensembl map viewer.. It is absolutely indispensible that break points are specified; denoting them at a lower resolution than the resolution for the image may yield inconsistencies. Ring chromosomes are shown linearized.. Hint: a complete karyogram can be drawn with the example program #4.. ...
Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, Timpson NJ, Perry JR, Rayner NW, Freathy RM, Barrett JC, Shields B, Morris AP, Ellard S, Groves CJ, Harries LW, Marchini JL, Owen KR, Knight B, Cardon LR, Walker M, Hitman GA, Morris AD, Doney AS, Burton PR, Clayton DG, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, Ouwehand WH, Samani NJ, Todd JA, Donnelly P, Davison D, Easton D, Evans D, Leung HT, Spencer CC, Tobin MD, Attwood AP, Boorman JP, Cant B, Everson U, Hussey JM, Jolley JD, Knight AS, Koch K, Meech E, Nutland S, Prowse CV, Stevens HE, Taylor NC, Walters GR, Walker NM, Watkins NA, Winzer T, Jones RW, McArdle WL, Ring SM, Strachan DP, Pembrey M, Breen G, St Clair D, Caesar S, Gordon-Smith K, Jones L, Fraser C, Green EK, Grozeva D, Hamshere ML, Holmans PA, Jones IR, Kirov G, Moskvina V, Nikolov I, ODonovan MC, Owen MJ, Collier DA, Elkin A, Farmer A, Williamson R, McGuffin P, Young AH, Ferrier IN, Ball SG, Balmforth AJ, Barrett JH, Bishop DT, Iles MM, Maqbool A, ...
Recent studies suggest that ANRIL expression mediates susceptibility to CAD1 via CDKN2B.2 We used fluorescently-labelled whole-blood RNA, from 20 healthy volunteers genotyped for the CAD-risk-SNP rs2891168, to probe custom-designed Agilent tiling expression microarrays. Raw data were normalized to probe GC content and housekeeping genes. We found that ANRIL exons 1-4 were more abundantly expressed in blood than 5-20, with exons 6, 8, 9, 20 showing low expression. We derived a set of "training" tiling probes from HUVEC cells in which ANRIL expression was attenuated using siRNA against exons 13 and 19. ANRIL expression (probes in exons 5,6,8,13,16,18,19) was reduced by at least 50% and CDKN2B expression (probes in exons 1,2) increased, with no effect on CDKN2A. We confirmed these data using real-time QPCR. Using the tiling probe "training-set", a probe in exon 16 of ANRIL showed a CAD genotype-specific difference in expression (p,0.001), with the risk-allele lower, and probes in exon 2 of CDKN2B ...
p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.,/p> ,p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.,/p> ,p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).,/p> ,p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x,sup>64,/sup> + x,sup>4,/sup> + x,sup>3,/sup> + x + 1. The algorithm is described in the ISO 3309 standard. ,/p> ,p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.,br /> ,strong>Cyclic redundancy and other checksums,/strong>,br /> ,a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993),/a>),/p> Checksum:i ...
LRSAM1小鼠多克隆抗体(ab73113)可与人样本反应并经WB, ELISA实验严格验证,被2篇文献引用。所有产品均提供质保服务,中国75%以上现货。
Compare and save on LifeTime Noni Mangosteen Goji & Acai Blend using PricePlow - We check deals at dozens of stores so that you dont have to!
This study suggests that GBM can be categorized into genetic subgroups and validates aCGH for detecting CNAs in GBM. Our data also identified candidate loci for homozygous deletions and amplifications. We compared aCGH results with data obtained by chromosomal CGH, FISH, and quantitative PCR, and conclude that RR obtained from aCGH is a reliable estimate of relative copy number. Moreover, unlike chromosome CGH, aCGH detects homozygous loss and amplicon size and maps CNAs to precise locations in the genome.. Genetic subgroups. Our data suggest that there are genetically distinct subgroups within GBM (Fig. 7). We identified three provisional genetic subgroups: one with loss of chromosome 10 and gain of chromosome 7 (group C), a second with loss of chromosome 10 only (group B); and a third without chromosome 10 loss or chromosome 7 gain (group A). If the mechanisms that underlie malignant behavior in these genetic subgroups substantially differ, we expect that subgroups may behave differently and ...
In countries where comparative genomic hybridization arrays (aCGH) and next generation sequencing are not widely available due to accessibility and economic constraints, conventional 400-500-band karyotyping is the first-line choice for the etiological diagnosis of patients with congenital malformations and intellectual disability. Conventional karyotype analysis can rule out chromosomal alterations greater than 10 Mb. However, some large structural abnormalities, such as derivative chromosomes, may go undetected when the analysis is performed at less than a 550-band resolution and the size and banding pattern of the interchanged segments are similar. Derivatives frequently originate from inter-chromosomal exchanges and sometimes are inherited from a parent who carries a reciprocal translocation. We present two cases with derivative chromosomes involving a 9.1 Mb 5p deletion/14.8 Mb 10p duplication in the first patient and a 19.9 Mb 5p deletion/ 18.5 Mb 9p duplication in the second patient. These long
Gorlin syndrome is a rare genetical disorder. It is caused as a result of mutation in the gene. The gene responsible for this mutation is present on the chromosome 9. The mutation changes the gene actual sequence thus making it abnormal. This results in gorlin syndrome.. The main factor that contributes to the gene mutation is climate change from cooler climates to intense hot climates. This sudden change makes the particular regions more prone to the syndrome. The races mostly affected by this syndrome are African Americans and Caucasians.. Gorlin syndrome is autosomal dominant and equally found among both men and women. Autosomal dominant means that one copy of the mutated gene is sufficient to cause the disease. The child inherits the syndrome if either parent is affected and passes the gene to the child. Symptoms of Gorlin Syndrome ...
TY - JOUR. T1 - POT1 loss-of-function variants predispose to familial melanoma. AU - Robles-Espinoza, Carla Daniela. AU - Harland, Mark. AU - Ramsay, Andrew J.. AU - Aoude, Lauren G.. AU - Quesada, Victor. AU - Ding, Zhihao. AU - Pooley, Karen A.. AU - Pritchard, Antonia L.. AU - Tiffen, Jessamy C.. AU - Petljak, Mia. AU - Palmer, Jane M.. AU - Symmons, Judith. AU - Johansson, Peter A.. AU - Stark, Mitchell S.. AU - Gartside, Michael G.. AU - Snowden, Helen. AU - Montgomery, Grant W.. AU - Martin, Nicholas G.. AU - Lite, Jimmy Z.. AU - Choi, Jiyeon. AU - Makowski, Matthew. AU - Brown, Kevin M.. AU - Dunning, Alison M.. AU - Keane, Thomas M.. AU - Lopez-Otin, Carlos. AU - Gruis, Nelleke A.. AU - Hayward, Nicholas K.. AU - Bishop, D. Timothy. AU - Newton-Bishop, Julia A.. AU - Adams, David J.. N1 - © 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.. PY - 2014/5. Y1 - 2014/5. N2 - Deleterious germline variants in CDKN2A account for around 40% of familial melanoma ...
InterPro provides functional analysis of proteins by classifying them into families and predicting domains and important sites. We combine protein signatures from a number of member databases into a single searchable resource, capitalising on their individual strengths to produce a powerful integrated database and diagnostic tool.
Deleterious germline variants in CDKN2A account for around 40% of familial melanoma cases, and rare variants in CDK4, BRCA2, BAP1 and the promoter of TERT have also been linked to the disease. Here we set out to identify new high-penetrance susceptibility genes by sequencing 184 melanoma cases from 105 pedigrees recruited in the UK, The Netherlands and Australia that were negative for variants in known predisposition genes. We identified families where melanoma cosegregates with loss-of-function...
Deleterious germline variants in CDKN2A account for around 40% of familial melanoma cases, and rare variants in CDK4, BRCA2, BAP1 and the promoter of TERT have also been linked to the disease. Here we set out to identify new high-penetrance susceptibility genes by sequencing 184 melanoma cases from …
DB-ID: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro ...
Principal Investigator:KATO Koichi, Project Period (FY):1997 - 1998, Research Category:Grant-in-Aid for Scientific Research (C), Section:一般, Research Field:Physical pharmacy
• A patient with the nevoid basal cell carcinoma syndrome had been treated with radiation therapy to the hands at 5 years of age. Multiple basal cell carcinomas
Nevoid basal cell carcinoma syndrome (NBCCS) represents a series of multiorgan abnormalities known to be the consequence of abnormalities in the PTCH gene. The syndrome has been documented for 50 years, but more recent developments in molecular genetics have dramatically increased understanding of its pathophysiology and opened up molecular a...
The clinical response of the main target (and secondary target, as appropriate) BCC(s) to treatment was evaluated using the following 6-point scale comparing the assessment at the visit to the clinical presentation at Baseline: 0 = Worsening, 1 = No change, 2 = Slight clearance (1-25% improvement), 3 = Moderate clearance (26-75% improvement), 4 = Marked clearance (76-99% improvement),5 = Complete clearance (100% improvement) Complete clearance was defined as no clinical residual signs of carcinoma, as evaluated by the Investigator at a post-Baseline visit, with the exception of post-inflammatory changes such as minimal residual erythema or residual hyper-pigmentation or hypo-pigmentation or residual scarring ...
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly ...
The SUFU gene is associated with autosomal dominant nevoid basal cell carcinoma syndrome (NBCCS) (MedGen UID: 2554), and medulloblastoma (MedGen UID: 7517). Additionally, there is preliminary evidence supporting a correlation with susceptibility to meningioma (MedGen UID: 232281).
Hepatocellular carcinoma (HCC) is a common malignant tumor with high fatality rate. Recent studies reported that up-regulation of long non-coding RNA antisense non-coding RNA in the INK4 locus (lncRNA ANRIL) was found in HCC tissues, and which could affect HCC cells biological processes. However, the potential molecular mechanism of ANRIL in HCC is still unclear. The study aimed to uncover the effect of ANRIL on HepG2 cells growth, migration and invasion. The knockdown expression vectors of ANRIL were transfected into HepG2 cells, and qRT-PCR, CCK-8, flow cytometry, Transwell and western blot assays were performed to analyze the effect of ANRIL on cell proliferation, apoptosis, migration and invasion. The relative expression of miR-191 was then examined in ANRIL knockdown vector transfected cells. These experiments were repeated again for exploring the effect of miR-191 on HepG2 cells. NF-κB and Wnt/β-catenin signaling pathways were examined by using western blot assay. Knockdown of ANRIL inhibited
The HBL and LND1 cell lines, wt for BRAF, highly express PGC1alpha while hmel1, hmel9, hmel11, Mba72, M3, presenting BRAF mutations at the V600 residue, show a downregulation of this gene. MITF expression levels were more abundant in HBL and LND1 cell lines with respect to the other cell lines harbouring BRAF mutations. There is a direct correspondence between PGC1alpha and MITF levels: higher levels of PGC1alpha are associated with an enhanced MITF quantity. The analysis of cAMP levels in our melanoma cell lines showed a similar trend, being higher in wt BRAF cell lines compared to the other cell lines. ...
The nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome, is a multisystem autosomal dominant disorder. The salient features of this syndrome include multiple basal cell carcinomas, palmar and/or plantar pits, odontogenic keratocysts, skeletal and developmental anomalies, and ectopic calcification. Other features include such tumors as ovarian fibromas and medulloblastomas. There is extensive interfamilial as well as intrafamilial variability with respect to the manifestation and severity of the phenotype. Alterations in the human homologue (PTCH) of the Drosophila segment polarity gene patched have been identified in NBCCS patients as well as tumors associated with this syndrome. We report several mutations in this gene in NBCCS patients and present the clinical phenotypes of the individuals in whom these mutations were identified.. ...
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin-Goltz syndrome is characterized by basal cell carcinoma (BCC), odontogenic keratocy..
Normally, every cell has 2 copies of each gene: one inherited form the mother and one inherited from the father. NBCCS follows an autosomal dominant inheritance pattern, in which a mutation needs to happen in only 1 copy of the gene for a person to have the increased risk. This means that a parent with a gene mutation may pass along a copy of the normal gene or a copy of the gene with the mutation. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. A brother, sister, or parent of a person who has a mutation also has up to a 50% chance of having the same mutation. However, if the parents test negative for the mutation (meaning each persons test results found no mutation), the risk to the siblings significantly decreases but their risk may still be higher than an average risk. It is also possible that the NBCCS in an individual was caused not by an inherited mutation but, rather, by a spontaneous gene mutation (see below).. Options exist for people ...
In August 2019, the U.S. Food and Drug Administration granted breakthrough therapy designation to an experimental immunotherapy being developed in the Center for Cancer Research (CCR) for the treatment of B-cell acute lymphoblastic leukemia (ALL), a type of blood cancer. The designation will advance CCRs development and testing of an immunotherapy for children and young
The (9;22) translocation which produces the Philadelphia (Ph1) chromosome activates the abl oncogene from chromosome 9 by recombination with the bcr gene from chromosome 22. This fusion gene is transcribed into a new 8.5-kilobase chimeric mRNA which is translated into a novel Mr 210,000 fusion protein which has a protein tyrosine kinase activity that is greatly increased in comparison to the activity of the normal abl protein. Studies from this laboratory and others have shown that virtually all patients with chronic myelogenous leukemia have this new bcr/abl fusion gene. In contrast to these findings in chronic myelogenous leukemia, a small number of patients with Ph1(+) acute lymphoblastic leukemia (ALL) have been studied and were found to lack the bcr/abl fusion gene [bcr(-)], but to have a new activation of abl, by recombination with an as yet undetermined region on chromosome 22. In this study, nine adults with Ph1(+)-ALL have been examined for evidence of a bcr/abl fusion gene. Of the nine ...
A parade recently passed by Charlotte Lalas home after she wrapped up her first year of treatment for B-Cell Acute Lymphoblastic Leukemia.
CDKN2AIPNL - CDKN2AIPNL (untagged)-Human CDKN2A interacting protein N-terminal like (CDKN2AIPNL) available for purchase from OriGene - Your Gene Company.
TY - JOUR. T1 - Successful treatment of an intractable case of hereditary basal cell carcinoma syndrome with paclitaxel [8]. AU - El Sobky, R. A.. AU - Kallab, A. M.. AU - Dainer, P. M.. AU - Jillella, A. P.. AU - Lesher, Jr. PY - 2001/7/7. Y1 - 2001/7/7. UR - http://www.scopus.com/inward/record.url?scp=0034969154&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0034969154&partnerID=8YFLogxK. M3 - Letter. C2 - 11405789. AN - SCOPUS:0034969154. VL - 137. SP - 827. EP - 828. JO - JAMA Dermatology. JF - JAMA Dermatology. SN - 2168-6068. IS - 6. ER - ...
Introduction. Atrial fibrillation (AF) is a common arrhythmia in humans and a major cause of morbidity and mortality. We have previously reported a genome-wide study identifying sequence variants on chromosome 4q25 that confer risk of AF. We have now expanded our cohort for genome-wide association stud, in the attempt to discover additional variants that associate with the common forms of AF.. Methods. A sample set of 2,385 Icelandic patients with AF and/or atrial flutter (AFl) and 33,752 Icelandic population controls were genotyped with the Illumina HumanHap300 and HumanHapCNV370 bead chips, yielding 304,226 SNPs that were tested individually for association. Of the top ten SNPs, seven represented the previously discovered signal on chromosome 4q25. The remaining three SNPs were genotyped in three replication cohorts of European descent, from Iceland (989 cases and 2,027 controls), Norway (725 cases and 725 controls) and the United States (735 cases and 729 controls).. Results. One SNP, ...
Intimacy counselling. Find out more about our free, confidential counselling with medical specialists trained in intimacy, body image, sexual confidence and relationships. Available to all those facing cancer and their partners, including members of the LGBTQI community. ...
R, this data suggests that Mtap may be acting in a haploinsufficient manner. To develop evidence that germline heterozygosity for Mtap can have phenotypic