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*  A point mutation in the FMR-1 gene associated with fragile X mental retardation - Institutional Repository University of Antwerp
The vast majority of patients with fragile X syndrome show a folate-sensitive fragile site at Xq27.3 (FRAXA) at the cytogenetic ... This de novo mutation is absent in the patient's family and in 130 control X chromosomes, suggesting that the mutation causes ... We have studied the FMR-1 gene of a patient with the fragile X phenotype but without cytogenetic expression of FRAXA, a (CGG)n ... Our results suggest that mutations in FMR-1 are directly responsible for fragile X syndrome, irrespective of possible secondary ...
https://repository.uantwerpen.be/link/irua/101723
*  GENTAUR antibody-antibodies.com The Marketplace for Antibodies : Human chromosome 7: DNA sequence and biology.
To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental ... Chromosome Y Yq12 & Chromosome X Centromere FISH Probe Cocktail. 100 EIAAB08142. CAPD2,Chromosome condensation-related SMC- ... Human Chromosome 1 Amplified Sequence 1 ELISA Kit. 96T. FBX11_HUMAN. Human ELISA Kit FOR Putative chromosome 1-amplified ... Human Putative chromosome 1-amplified sequence 3(C1orf152) ELISA kit. 96T. G5249. Putative chromosome 1-amplified sequence 3 ( ...
http://www.antibody-antibodies.com/pubmed-PubMed=12690205-PubMedArticl.html
*  Fragile X Syndrome | Encyclopedia.com
Fragile X Syndrome Definition Fragile X syndrome [1] is the most common form of inherited mental retardation [2]. Individuals ... when additional families were identified with mental retardation and the same chromosome abnormality, or fragile site. Moreover ... Web site: ,www.fraxa.org,.. National Fragile X Foundation. PO Box 190488, San Francisco, CA 94119-0988. Web site: ,www.FragileX ... WEB SITES. "Families and Fragile X Syndrome." National Institute of Child Health & Human Development, National Institutes of ...
https://www.encyclopedia.com/medicine/diseases-and-conditions/pathology/fragile-x-syndrome
*  Similar Effects of Brca2 Truncation and Rad51 Paralog Deficiency on Immunoglobulin V Gene Diversification in DT40 Cells Support...
Replicating chromosomes are fragile, and substantial fractions of these abasic sites may block DNA replication, leading to ... 3.1-kb fragment at the XhoI-XbaI sites, the ∼2.6-kb fragment at the KpnI-BamHI sites, and the blasticidin-S (bsr) selection ... The resulting uracil is then excised by uracil DNA glycosylase to generate an abasic site. The abasic site can be processed and ... and then inserted into the NotI-XhoI sites in the multicloning site of pMY297 vector. The following fragments were inserted ...
https://mcb.asm.org/content/25/3/1124?ijkey=865d58a40e7552408e6685e8f6b7ccbed7c4d85c&keytype2=tf_ipsecsha
*  UT Arlington scientists suggest "Fragile Y Hypothesis" to explain chromosome loss - UTA News Center
MEDIA SITES. © 2018 The University of Texas at Arlington. 701 S. Nedderman Drive • Arlington, TX 76019 • 817-272-2011. Careers ... The new paper is called "Estimating Tempo and Mode of Y Chromosome Turnover: Explaining Y Chromosome Loss With the Fragile Y ... The resulting fragile Y hypothesis focuses on differences in how X and Y chromosomes are divided when sperm is produced. Many ... They call it the "fragile Y hypothesis.". The biologists' idea is that the fate of the Y chromosome is heavily influenced by ...
https://www.uta.edu/news/releases/2014/06/fragileY-hypothesis.php
*  Study of viral integration of HPV-16 in young patients with LSIL | Journal of Clinical Pathology
Human papillomavirus type 16 integrations in cervical tumors frequently occur in common fragile sites. Cancer Res2000;60:5916- ... integration was found mostly in chromosomes 1, 2, 8, 9, 3, 12, 13, and 20.19-22 Selected integrations have been described, by ... This site uses cookies. More info. By continuing to browse the site you are agreeing to our use of cookies. Find out more here ... in common fragile sites,23,24 or in interspersed repetitive sequences of DNA.25 Nevertheless, it has not been possible to ...
http://jcp.bmj.com/content/56/7/532
*  Keystone Symposia | Scientific Conferences on Biomedical and Life Science Topics
Identification of a Novel Class of Early Replicating Fragile Sites that Contribute to Genomic Instability in B Cell Lymphomas. ... Meiotic Chromosome Structures Constrain and Respond to Designation of Crossover Recombination Sites. ... Terms of Use , Privacy Policy , Site Map , Home , Contact Us. Keystone Symposia is a 501(c)(3) nonprofit organization directed ... Swi1 Prevents DNA Damage during Replication of Difficult-to-Replicate Sites. Diana E. Libuda, University of Oregon, USA ...
http://www.keystonesymposia.org/index.cfm?e=web.Meeting.Program&meetingid=1240
*  2018/2019 ICD-10-CM Diagnosis Code Q93.88: Other microdeletions
Q95.5 Individual with autosomal fragile site Q95.8 Other balanced rearrangements and structural markers ... A genetic syndrome caused by an interstitial deletion in chromosome 17p11.2. It is characterized by mild to moderate mental ... Deletion of the short arm of chromosome 17. As initially reported, the syndrome consisted mainly of cleft palate and congenital ... is associated with de novo deletion or mutation and haploinsufficiency of the retinoic acid-induced 1 protein on chromosome ...
https://www.icd10data.com/ICD10CM/Codes/Q00-Q99/Q90-Q99/Q93-/Q93.88
*  "Human common fragile site FRA16D flexibility peak is not a strong mito" by Katina G. Kapellas
... and chromosome loss. Overall, Flex1 does not appear to act as a hotspot for mitotic recombination. Contextual features may be ... on chromosome III in Saccharomyces cerevisiae. Two experimental yeast strains containing flexibility peak Flex1-(AT)15 from ... Common fragile sites (CFS) are areas of the genome that tend to break when DNA replication is stressed or partially inhibited. ... Common fragile sites (CFS) are areas of the genome that tend to break when DNA replication is stressed or partially inhibited. ...
https://commons.emich.edu/theses/595/
*  Why Do Autistic People Recoil from Touch? - MASSAGE Magazine
It's as if the foreman is missing on the brain's key construction site. Fragile X is so named because the X chromosome appears ... Fragile X syndrome is caused by a gene mutation in the X chromosome that interferes in the production of a protein called ... They found in fragile X syndrome there is delayed development of the sensory cortex, the part of the brain that responds to ... Researchers at Northwestern University recently set out to explore why people with fragile X syndrome, a genetic defect that is ...
https://www.massagemag.com/why-do-autistic-people-recoil-from-touch-6918/
*  Info on Bionet.molbio.recombination
Matrix attachment sites (MARS) -nucleosomes, histone 1 -recombination hotspots -fragile sites -origins of replication 3. Effect ... Topics of Discussion include: 1. Gene conversion and ectopic integration 2. Genome accessibility and nuclear/chromosome ... fungi, mammals) 5. Models of recombination (One-end invasion, Double strand Break Repair, SSA etc) 6. Site-specific ...
http://www.bio.net/bionet/mm/biochrom/1995-June/000636.html
*  2010 Seminars | CABD - Centro Andaluz de Biología del Desarrollo
... specifically in condensin-depleted cells by ChIP-seq and ChIP-chip indicates that the affected regions include fragile sites, ... Structures and functions of mitotic chromosomes. Dr. Alexander Strunnikov. Laboratory of Immunopathology. National Institute of ... Website Sitemap , Statistics , Control Panel , Staff Access © CABD 2008-2019 , website designed by BLWorks.net ... Moreover, our results show that the dysfunction of Aurora B is the key defect leading to chromosome missegregation in condensin ...
http://www.cabd.es/en-pages_cms-82-2010-seminars.html
*  X chromosome studies and breast and ovarian carcinoma - UBC Library Open Collections
Bioessays 22:728-737 Dhillon VS, Husain SA, Ray GN (2003) Expression of aphidicolin-induced fragile sites and their ... The overexpression of several X chromosome genes and the variability of X chromosomes and inactive X chromosomes within and ... Primers are designed around the cut sites of a polymorphic X chromosome gene in order to quantify the amount of methylated ... 4.6 X chromosome abnormalities in other cancers While it is attractive to suppose that changes in X chromosome content are ...
https://open.library.ubc.ca/cIRcle/collections/ubctheses/24/items/1.0066174
*  Plus it
BLM localizes to UFBs and to DAPI-positive anaphase bridges, some of which are associated with fragile sites (17, 19). It has ... C, number of SCEs per chromosome in cells transfected as in A and B. Between 2,245 and 2,642 chromosomes from four independent ... Homologous recombination and nonhomologous end-joining repair pathways regulate fragile site stability. Genes Dev 2005;19:2715- ... Replication stress induces sister-chromatid bridging at fragile site loci in mitosis. Nat Cell Biol 2009. ...
http://mcr.aacrjournals.org/content/8/3/385
*  Connexion
... to chromosome band 2q32.2 by in situ hybridization; the FRA2G common fragile site lies between the two genes in the 2q31 band. ... Human type III collagen (COL3A1) is on chromosome 2 and type IVcollagen (COL4A1) on chromosome 13. Solomon E, et al. (HGM8) ... A novel binding site in collagen type III for integrins alpha1beta1 and alpha2beta1. Kim JK, Xu Y, Xu X, Keene DR, Gurusiddappa ... Human alpha-1 (III) and alpha-2 (V) procollagen genes are located on the long arm of chromosome 2. Emanuel BS, et al. Proc Natl ...
http://genatlas.medecine.univ-paris5.fr/tbiblio.php?symbol=COL3A1
*  What can you do with a Nanonics NSOM/AFM system? - Nanonics Imaging
Investigation of the nature of fragile sites.. 7. Laser tweezer/ AFM combination ... Dissection of specific regions of chromosome correlated with the previous measurement and sequence identification of these ...
http://www.nanonics.co.il/nsom-navigation/nanonics-nsom-afm
*  Michelle Le Beau « People « Institute for Genomics and Systems Biology
5) to examine the relationship of chromosomal fragile sites (loci which are prone to undergo breakage and rearrangement) and ... 4) to localize genes to human chromosomes by using the technique of in situ chromosomal hybridization and to examine the ... Website: http://medicine.uchicago.edu/faculty_profile/faculty_profile.asp?empl_id=2718 ...
http://www.igsb.org/people/michelle-le-beau
*  Scientists Suggest 'Fragile Y Hypothesis' to Explain Chromosome Loss
This site complies with the HONcode standard for trustworthy health information: verify here. ... Scientists Suggest 'Fragile Y Hypothesis' to Explain Chromosome Loss. by Bidita Debnath on June 17, 2014 at 11:31 PM Research ... Genes on the Y Chromosome Prove Essential for Survival of Men. The human Y chromosome has over the course of millions of years ... Risk of Cancer in Males Increased by Y Chromosome Loss. The loss of Y chromosome, previously considered as a normal part of ...
http://www.medindia.net/news/scientists-suggest-fragile-y-hypothesis-to-explain-chromosome-loss-137597-1.htm
*  Pyrimidine Pool Disequilibrium Induced by a Cytidine Deaminase Deficiency Inhibits PARP-1 Activity, Leading to the Under...
... sites such as centromeres and fragile sites. Using molecular combing, electron microscopy and a sensitive assay involving cell ... The stimulation of PARP-1 activity in CDA-deficient cells restores replication and, thus, chromosome segregation. Moreover, ... sites such as centromeres and fragile sites. Using molecular combing, electron microscopy and a sensitive assay involving cell ... 10 citations in Web of Science®. 10 citations in Scopus®. 11 citations in Microsoft Academic. Google Scholar™ ...
http://www.zora.uzh.ch/id/eprint/112527/
*  Public Health
... aberrations diagnosed antenatally in patients from other geographic regions or in studies of chromosomal fragile sites. Two of ... These events primarily involved chromosomes 1, 2, 7, 14, 18, and 20. Of the 79 breakpoints identified, the most common were ... ABSTRACT INTRODUCTION The consequences of de novo balanced structural chromosome aberrations diagnosed antenatally are ...
https://scielosp.org/toc/medicc/2018.v20n4/
*  Diagnosed Medical/Psychological Conditions | Teach Special Education
A diagnosed inherited condition, caused by a 'fragile' or broken site on the X chromosome, resulting in mental and physical ... Fragile X Syndrome. Gambling Disorder. Intellectual Disabilities. Klinefelter's Syndrome. Learning Disabilities/Specific ... Scroll down to see the full list of medical and psychological conditions addressed on this website: ... A diagnosed condition that occurs in boys who have an extra X chromosome in most of their cells. Klinefelter's Syndrome is also ...
http://www.teachspeced.ca/?q=node/666
*  Teaching Strategies for Students with Special Needs | Teach Special Education
A diagnosed inherited condition, caused by a 'fragile' or broken site on the X chromosome, resulting in mental and physical ... Fragile X Syndrome. Gambling Disorder. Intellectual Disabilities. Klinefelter's Syndrome. Learning Disabilities/Specific ... A diagnosed condition that occurs in boys who have an extra X chromosome in most of their cells. Klinefelter's Syndrome is also ... The teaching strategies and resources on this website have been organized along three main lines. Related definitions, ...
http://www.teachspeced.ca/?q=node/3
*  FAIRsharing: biodbcore-000601: MitoBreak
Chromosome breakpoint * Chromosome fragile sites * Deletions * Genomic rearrangement * Life Science * Mitochondrial disease ...
https://fairsharing.org/biodbcore-000601
*  Jacqueline Donachie: It's fascinating, it's beautiful, it's aesthetic, it's gorgeous; but, in the end, people are dying |...
At the exact position of the fragile X gene on X chromosomes, the DNA was found not to condense properly but to remain ... In 1977, however, Grant Sutherland, working in Australia, observed a higher proportion of fragile sites in his tests than other ... Privacy & Cookies: This site uses cookies. By continuing to use this website, you agree to their use. To find out more, ... Linked to the X-chromosome - two copies of which are carried by women and one copy by men (together with a Y chromosome, ...
https://shiftyparadigms.wordpress.com/art/its-fascinating-its-beautiful-its-aesthetic-its-gorgeous-but-in-the-end-people-are-dying/?share=google-plus-1
*  Brookes Publishing: Genetics and Mental Retardation Syndromes
... chromosome 21 (i.e., trisomy 21). A decade later Lubs (1969) first observed the pinched, 'fragile' site of fragile X syndrome, ... Speech and Language Development and Intervention in Down Syndrome and Fragile X Syndrome. By Roberts, Joanne. ... the world did not even know the basic structure of the human chromosome, how many chromosomes human beings possessed, or how ... Fragile X Syndrome *Prader-Willi Syndrome *Five Other Intriguing Syndromes III. New Directions. *Next Steps for Research ...
http://products.brookespublishing.com/Genetics-and-Mental-Retardation-Syndromes-P162.aspx