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ICF syndrome

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	Icf Syndrome
		High frequencies of ICF syndrome-like pericentromeric heterochromatin decondensation and breakage in chromosome 1 in a chorionic villus sample...
		The DNMT3B DNA methyltransferase gene is mutated in the ICF...
		Genetics The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome R. Scott Hansen,, Cisca Wijmenga, Ping Luo,
	www.medicality.org.uk /diseases/icf-syndrome.php (178 words)

	ICF applications - examples and 'modules' (Site not responding. Last check: 2007-10-23)
		The principal aim of the Australian Rett syndrome research program, which commenced in 1993, was to define a population based cohort, which could be used for subsequent clinical and epidemiological studies and followed prospectively (Leonard et al 1997).
		The assessment of intellectual function is particularly difficult to assess in Rett syndrome because of the communication difficulties associated with this disorder.
		The program will use the ICF framework to identify those factors determined to be most beneficial and cost effective in optimising health, function and quality of life for the affected child and her family.
	www.aihw.gov.au /disability/icf_ug_0_5/ug_s10_6.cfm (2239 words)

	The Turkish Journal of Pediatrics (Site not responding. Last check: 2007-10-23)
		The immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder characterized by variable immunodeficiency, instability of the pericentromeric heterochromatin, and facial dysmorphism.
		The ICF syndrome was diagnosed by centromeric instability in the standard cytogenetic analysis.
		The ICF syndrome is associated with centromeric instability secondary to localized hypomethylation of classic satellite DNA[6].
	tjp.dergisi.org /text.php3?id=220 (1150 words)

	[No title] (Site not responding. Last check: 2007-10-23)
		Because the unmethylated state of the ICF inactive X L1s probably reflects their methylation status at the time of X inactivation, Hansen (2003) suggested that unmethylated L1 elements, but not methylated L1s, may have a role in the spreading of X chromosome inactivation.
		To characterize the heterogeneity in the ICF syndrome, Jiang et al.
		Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.
	zeta.embl-heidelberg.de:8000 /srs5bin/cgi-bin/wgetz?-e+[omim-id:602900] (3470 words)

	Medical Dictionary: ICF syndrome - WrongDiagnosis.com
		ICF syndrome: Variable immunodeficiency with centromeric instability of chromosomes 1, 9, 16 and, less frequently, chromosome 2.
		ICF syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		They list ICF syndrome as a "rare disease".
	www.wrongdiagnosis.com /medical/icf_syndrome.htm (245 words)

	UW Genome Sciences
		The ICF syndrome (MIM no.242860) is a rare autosomal recessive disease in humans that is characterized by DNA hypomethylation at certain heterochromatic regions.
		Because the defect in ICF appears to offer a clue as to how a part of this complex methylation pattern is established and/or maintained, we plan to identify the defective gene.
		The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.
	www.gs.washington.edu /faculty/gartler.htm (1283 words)

	IDR: Introduction to Primary Immunodeficiencies
		Wiskott-Aldrich syndrome (WAS) is an immunodeficiency disorder of both T and B cells characterized by thrombocytopenia, eczema, and recurrent infections.
		The syndrome is associated with several defects and it has been called also for CATCH22, because the gene defect is usually a deletion in chromosome 22, and the symptoms include Cardiac abnormalities, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcinaemia.
		Turner syndrome patients have generally normal numbers of T and B cells, but serum IgG and IgM levels are reduced.
	bioinf.uta.fi /idr/ID_intro.html (3817 words)

	Columbia News ::: Mutation Causes Chromosome Instability and Immune Deficiency
		ICF is a rare syndrome that was recognized only in 1988.
		In addition to finding the causative gene for ICF and demonstrating a role for DNA methylation in human disease and genome stability, Dr. Bestor and his colleagues believe their findings suggest a role for classical satellite DNA.
		The lack of DNA methylation in ICF appears to prevent the formation of these gene "prisons" and allows some genes to express themselves continuously rather than only briefly during a specific stage of lymphocyte development.
	www.columbia.edu /cu/news/99/11/mutation.html (697 words)

	ICF syndrome - ICF syndrome
		It is characterized ICF syndrome by variable reductions in serum immunoglobulin levels which cause most ICF patients to succumb to infectious diseases before adulthood.
		ICF syndrome patients exhibit facial anomalies which include hypertelorism, low-set ears, epicanthal folds and macroglossia.
		Sometimes the term is used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function, while in other contexts these may be considered distinguishable categories.
	www.medicalgeo.com /Med-Diseases-I---K/ICF-syndrome.html (148 words)

	List of diseases starting with I - Wikipedia, the free encyclopedia
		Idiopathic infection caused by BCG or atypical mycobacteria
		Immotile cilia syndrome, due to defective radial spokes
		Immotile cilia syndrome, due to excessively long cilia
	en.wikipedia.org /wiki/List_of_rare_diseases_starting_with_I (110 words)

	Key developmental genes identified, linked to rare syndrome
		It already had been known that ICF syndrome - a genetic condition that includes defects in the immune system and characteristic facial abnormalities - was also associated with chromosomal instability and a lack of methylation in the area of the minor satellite repeats.
		In the current study, the MGH researchers analyzed cultured cells from an ICF patient and her parents to search for mutations in Dnmt3b.
		While ICF is an extremely rare condition - only about 20 cases have been reported - the researchers also will be investigating the possible role of both Dnmt3 genes in other diseases, particularly cancers.
	www.eurekalert.org /pub_releases/1999-11/MGH-Kdgi-011199.php (1052 words)

	Disability - ICF User Guide
		Rett syndrome is, therefore, usually associated with severe intellectual and physical disability, and girls with this condition commonly suffer from considerable health problems.
		The principal aim of the Australian Rett syndrome research program, which began in 1993, was to define a population based cohort, that could be used for subsequent clinical and epidemiological studies and followed prospectively (Leonard et al.
		The assessment of intellectual function is particularly difficult to assess in Rett syndrome because of the apraxia and communication difficulties associated with this disorder.
	www.aihw.gov.au /publications/dis/icfaugv1/ug_s10_6.html (2395 words)

	[No title]
		This larger sample of persons with chronic fatigue syndrome and with idiopathic chronic fatigue was then classified into the functional impairment categories proposed by Cox and Findley (2000) using self-reported disability.
		When differences were found in the sociodemographic characteristics between the CFS and ICF groups, and between the mild, moderate, and severe/very severe categories, these variables were entered into the subsequent analyses in order to control for the effects of these variables on the outcome measures.
		Because there were no difference between the CFS and ICF groups in whether they were classified as mild, moderate, or severe/very severe, in subsequent analyses, CFS/ICF status was not used a covariate in the analyses examining differences among these three groups.
	www.cfids-cab.org /cfs-inform/Cfsliving/carrico.etal04.txt (4186 words)

	Report on the Rare Diseases and Conditions Research Activities of the NIH 1999 - National Institute of General Medical ... (Site not responding. Last check: 2007-10-23)
		ICF syndrome is a rare disorder characterized by immunological defects, chromosomal instabilities, and several facial abnormalities.
		They have cloned and characterized a family of genes for enzymes that are essential for DNA methylation in humans and in mice and have shown that one of these genes, Dnmt3b, is mutated in individuals with ICF syndrome.
		Mutations of the gene for BLM have previously been associated with Bloom's syndrome, a disorder characterized by growth deficiency, chromosomal instability, and a predisposition to various cancers.
	rarediseases.info.nih.gov /html/reports/fy1999/nigms.html (1326 words)

	ICF syndrome (Site not responding. Last check: 2007-10-23)
		The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease described in about 50 patients worldwide and characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.
		ICF always involves limited hypomethylation of DNA and often arises from mutations in one of the DNA methyltransferase genes (DNMT3B).
		With the identification of DNMT3B as the affected gene in a majority of ICF patients, prenatal diagnosis of ICF is possible.
	www.orpha.net /static/GB/icf_syndrome.html (235 words)

	A Community-Based Study of Chronic Fatigue Syndrome
		Chronic fatigue syndrome is a common chronic health condition, especially for women, occurring across ethnic groups.
		In this study, CFS was most prevalent among individuals in the 40- to 49-year-old age range and, to a lesser degree, among those in the 50- to 59- and 30- to 39-year-old age ranges.
		Chronic fatigue syndrome was least prevalent in 18- to 29-year-olds and in those 60 years and older.
	www.ncf-net.org /library/jason-prev1999.htm (4831 words)

	Highlights of Research Progress (Site not responding. Last check: 2007-10-23)
		These mutations occur in patients with a rare autosomal recessive disorder, called Immunodefiency, Centromeric Instability, and Facial anomalies or ICF syndrome, which is characterized by a variable immunodeficiency, mild facial anomalies, centromeric decondensation, and restricted hypomethylation patterns.
		Among Mendelian disorders with cardiac defects, Char syndrome is unusual in having PDA as the predominant heart lesion, which suggests a role for its disease gene in sixth aortic arch development.
		In 1993, researchers made a surprising discovery that Smith-Lemli-Opitz syndrome, one of the best-known autosomal recessive malformation-mental retardation syndromes, was caused by a primary defect of cholesterol biosynthesis.
	www.nichd.nih.gov /publications/pubs/coundbgt/sub4.htm (11238 words)

	Maurizio D'Esposito Research group (Site not responding. Last check: 2007-10-23)
		We are studying three human diseases: ICF syndrome, mutated in the DNMT3B gene (Xu et al.
		The ICF syndrome (OMIM 242860) (Immunodeficiency, Chromosomal abnormalities, Facial anomalies) patients have mutations in DNMT3B that lead to hypomethylation in heterochromatic regions.
		Rett syndrome (RTT, OMIM 312750) is a neurological disorder that affects females almost exclusively occurring with a frequency of up to 1/10,000 live female births.
	www.igb.cnr.it /~desposit/research (1169 words)

	Defective B-cell-negative selection and terminal differentiation in the ICF syndrome -- Blanco-Betancourt et al. 103 ...
		ICF syndrome was diagnosed for 4 patients by karyotype analysis
		Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies.
		A novel case of immunodeficiency, centromeric instability, and facial anomalies (the ICF syndrome): immunologic and cytogenetic studies.
	www.bloodjournal.org /cgi/content/full/103/7/2683 (5589 words)

	UniProtKB/Swiss-Prot entry Q9UBC3 [DNM3B_HUMAN] DNA (cytosine-5)-methyltransferase 3B
		Hansen R.S. Wijmenga C. Luo P. Stanek A.M. Canfield T.K. Weemaes C.M.R. Gartler S.M. "The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.";
		ICF is a rare autosomal recessive disorder characterized by a variable immunodeficiency, mild facial anomalies, and centromeric heterochromatin instability involving chromosomes 1, 9, and 16.
		ICF is biochemically characterized by hypomethylation of CpG sites in some regions of heterochromatin.
	www.expasy.org /uniprot/Q9UBC3 (784 words)

	INTE Vol. 159 No. 18 pp 2129-2137
		Conclusions Chronic fatigue syndrome is a common chronic health condition, especially for women, occurring across ethnic groups.
		Politics, science, and the emergence of a new disease: the case of chronic fatigue syndrome.
		Estimating the prevalence of chronic fatigue syndrome and associated symptoms in the community.
	www.cfids-cab.org /cfs-inform/Prevalence/jason.etal99.html (5763 words)

	High frequencies of ICF syndrome-like pericentromeric heterochromatin decondensation and breakage in chromosome 1 in a ...
		Because the ICF syndrome, in which these specific chromosomal anomalies are found, is always accompanied by hypomethylation
		One case of ICF had been diagnosed from an amniotic fluid culture in a family known to be at risk because of a previously
		Jeanpierre M, Turleau C, Aurias A, Prieur M, Ledeist F, Fischer A, Viegas-Pequignot E. An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome.
	jmg.bmjjournals.com /cgi/content/full/38/12/882 (1984 words)

	Genes May Determine Who Developed Gulf War Syndrome, University at Buffalo Researchers Find; Variant in ACE Gene ...
		Unexpectedly, the nonbeneficial variant was less common among non-veterans with symptoms identical to those of Gulf War Syndrome, indicating that the genetic variant rendered the carriers more susceptible to triggers present in the Gulf-War environment.
		Results of the genetic analysis showed that the frequency of the II genotype (beneficial) was significantly lower in veterans with Gulf-War Syndrome compared to healthy veterans, and both healthy and ill non-veterans.
		Moreover, 76 percent of Gulf War veterans with the DD (nonbeneficial) genotype had CFS or ICF, compared with only 45 percent of veterans with the ID variant and 27 percent with the II variant.
	www.fibromyalgiasupport.com /library/showarticle.cfm/ID/5871 (985 words)

	Epigenome Network of Excellence: Community - Lab Profiles
		We have focused our activity on the ICF syndrome (Immunodeficiency, Centromeric instability, Facial anomalies), which was the first example of a human disease linked to a constitutive defect of DNA methylation.
		We are now interested in other human diseases closely related to the ICF syndrome and in the development of animal models deficient in components of the DNA methylation machinery.
		Our aim is to establish the nature of the cellular and molecular epigenetic defects underlying various pathologies and to identify the embryonic stage at which the defect occurs.
	www.epigenome-noe.net /community/labmain.php?labid=24 (190 words)

	Chromatin Targeting of de Novo DNA Methyltransferases by the PWWP Domain -- Ge et al. 279 (24): 25447 -- Journal of ...
		Note that the pattern of the dark spots in the HA-3aF/S333P staining is similar to that of the heterochromatin domains stained by DAPI, suggesting the absence of the mutant protein in the heterochromatin domains.
		Chromatin targeting is disrupted by a point mutation of the ICF syndrome.
		the methyltransferases is disrupted by the ICF mutation in the
	www.jbc.org /cgi/content/full/279/24/25447 (5217 words)

	Energy Citations Database (ECD) - Energy and Energy-Related Bibliographic Citations
		We applied fluorescence in situ hybridization (FISH) using{open_quotes}painting{close_quotes} probes for chromosomes 1 and 16 to document the progression of centromeric instability from simple decondensation aberrations to the subsequent formation of complex multibranched chromosomes 1, and finally to the interphase aberrations of nuclear projections and micronuclei involving both chromosomes 1 and 16.
		The loss of the large multibranched chromosome 1 configurations from the cells as micronuclei suggests that the centromeric aberrations subsequently interfere with normal chromosome movement at anaphase in ICF syndrome.
		Circular areas of counterstained chromatin were observed by FISH in the micronuclei corresponding to the intertwined segments of centromeric heterochromatin seen involving multibranched chromosomes 1 in the patient`s G-banded chromosome study.
	www.osti.gov /energycitations/product.biblio.jsp?osti_id=105268 (350 words)

	humandisease
		Fragile X, Angelman, Prader-Willi, Rett, and ICF syndromes are inherited human diseases with epigenetic abnormalities that influence DNA methylation; many cancers have abnormal DNA methylation that arises somatically.
		Our early work on epigenetics through DNA methylation and delayed DNA replication, and application of these concepts to fragile X syndrome, is described in Epigenetics.
		We are also examining the possible levels of methylation mosaicism that may exist in cells from individuals with fragile X syndrome.
	protist.biology.washington.edu /Lairdlab/humandisease.htm (318 words)

	Gametes and Embryo Epigenetic Reprogramming Affect Developmental Outcome: Implication for Assisted Reproductive ... (Site not responding. Last check: 2007-10-23)
		(ICF), predominantly missense mutations in the C-terminal catalytic
		Jeanpierre M, Turleau C, Aurias A, Prieur M, Ledeist F, Fischer A, Viegas-Pequignot E 1993 An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome.
		Preece MA 2002 The genetics of the Silver-Russell syndrome.
	www.pedresearch.org /cgi/content/full/58/3/437 (7721 words)

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