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10,775 Possible Causes for E, FAMILY,, H2A, HISTONE, MEMBER

  • Diffuse Gastric Cancer

    Since α-E-catenin functions in the same complex as E-cadherin, our results call attention to the broader signalling network surrounding these proteins in HDGC.[ncbi.nlm.nih.gov] As the finding of pathogenic CDH1 mutations is useful for management of HDGC families, screening for deletions should be offered to at-risk families.[ncbi.nlm.nih.gov] The carcinogenic effects of these modifications are potentially reversible through the use of epigenetic therapies such as DNA demethylating agents and histone deacetylation[ncbi.nlm.nih.gov] Exome sequencing was applied to two affected family members.[ncbi.nlm.nih.gov] DNA methylation, histone modification and chromatin remodeling may all contribute to DGC cancerogenesis.[symptoma.com]

    Missing: H2A
  • Hereditary Diffuse Gastric Cancer

    Since α-E-catenin functions in the same complex as E-cadherin, our results call attention to the broader signalling network surrounding these proteins in HDGC.[ncbi.nlm.nih.gov] As the finding of pathogenic CDH1 mutations is useful for management of HDGC families, screening for deletions should be offered to at-risk families.[ncbi.nlm.nih.gov] The carcinogenic effects of these modifications are potentially reversible through the use of epigenetic therapies such as DNA demethylating agents and histone deacetylation[ncbi.nlm.nih.gov] Thirty family members were tested, and 15 CDH1 carriers were identified. RESULTS: Six family members had PTG, with negative preoperative workup.[ncbi.nlm.nih.gov] […] observation that epigenetic events are very likely to have an aetiological role in HDGC may open the door to the new class of epigenetic drugs such as demethylating agents and histone[hccpjournal.biomedcentral.com]

    Missing: H2A
  • Dementia

    Fink, E. Jutkowitz, J.R. McCarten, L.S. Hemmy, M. Butler, H. Davila, E. Ratner, C. Calvert, T.R. Barclay, M. Brasure, V.A. Nelson, R.L. Kane.[doi.org] Family caregivers of people with dementia, often called the invisible second patients, are critical to the quality of life of the care recipients.[ncbi.nlm.nih.gov] Fischer , Histone Deacetylases as Therapeutic Targets in Neurodegenerative Diseases , Medical Epigenetics , 10.1016/B978-0-12-803239-8.00003-X , (33-45) , (2016) .[doi.org] The Chairperson is also an ex-officio member on the Board of Alzheimer Europe with full voting rights.[alzheimer-europe.org] METHODS: A total of 212 caregivers of family members with dementia responded to the survey.[ncbi.nlm.nih.gov]

    Missing: H2A
  • Drug-induced Fever

    Features 30 all-new topics, including Zika virus, hepatitis E, asthma-COPD overlap syndrome, drug-induced parenchymal lung disease, binge eating disorder, hereditary breast[books.google.com] The antihistone antibodies in DIL primarily form against a complex of the histone dimer H2A-H2B, which is in contrast to idiopathic SLE in which complexes are formed against[uspharmacist.com] Familial Mediterranean fever (Medical Encyclopedia) Fever (Medical Encyclopedia) When your baby or infant has a fever (Medical Encyclopedia) [ Read More ][icdlist.com] Thus they are called anti-histone antibodies. Anti-histone antibodies may be seen in both systemic lupus erythematosus and drug-induced lupus.[clinicaladvisor.com] Not a Medscape Member?[medscape.org]

  • Kabuki Syndrome

    Çiftdemir, E. Atlı, C. İnan, S. Erzincan, H. Sutcu, U. Vatansever and F.[doi.org] Lee MG, Villa R, Trojer P et al. (2007) Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination. Science 318: 447–450.[els.net] Most patients with Kabuki syndrome (KS) are the only person in their family with the condition.[ncbi.nlm.nih.gov] This study identifies KDM6A mutations as another cause of KS and highlights the growing role of histone methylases and histone demethylases in multiple-congenital-anomaly[ncbi.nlm.nih.gov] SAKKS currently has over two hundred members from every corner of the globe.[kabukisyndrome.org]

  • Familial Melanoma of the Lip

    Kimmel , Joseph E. Parisi , Virginia V.[neurology.org] […] ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that catalyze the removal of ubiquitin from protein substrates [ 3 ], e.g. monoubiquitinated histone H2A[translational-medicine.biomedcentral.com] Familial melanoma Melanoma sometimes occurs in families, indicative of genetic susceptibility.[genomel.org] Robb E. Wilentz ,Dr. Rein Willemze, Dr. Richard Williamson, Dr. Wyndham H. Wilson, Dr. Xiaowei Xu, Dr. Lawrence L. Yu, Dr. Bernhard Zelger,[books.google.com] In this context, individuals in the family will have melanoma, there should be at least two family members with melanoma, one family member himself or herself should have[partnersinpancreaticcancer.com]

  • Rubinstein-Taybi Syndrome

    Cazalets JR 1 , Bestaven E 2 , Doat E 2 , Baudier MP 3 , Gallot C 4 , Amestoy A 4 , Bouvard M 2, 4 , Guillaud E 2 , Guillain I 3 , Grech E 3 , Van-Gils J 3 , Fergelot P 3,[ncbi.nlm.nih.gov] CONCLUSIONS: The authors' results extend to humans the seminal observations in RSTS mouse models and point to histone acetylation defects, mainly involving H2B and H2A, as[ncbi.nlm.nih.gov] Familial Mediterranean fever (FMF) is an autosomal recessive disease, caused by mutations in the FMF-gene [Mediterranean fever (MEFV)] and characterized by recurrent attacks[ncbi.nlm.nih.gov] In probands 1-3, direct sequencing identified a novel CREBBP missense mutation, c.2728A G (predicting p.Thr910Ala), that was absent in non-affected family members.[ncbi.nlm.nih.gov] In almost all cases, there are no other family members with the Rubinstein-Taybi syndrome.[rubinstein-taybi.org]

  • Blepharophimosis-Intellectual Disability Syndrome Type Ohdo

    Judith Allanson, Amanda Smith, Francesca Forzano, Angela E. Lin, Annick Raas‐Rothschild, Heather E. Howley and Kym M.[doi.org] Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes[creative-diagnostics.com] […] variability in familial X-Linked ohdo syndrome–Maat-Kievit-Brunner type with MED12 mutation.[eprints.manipal.edu] In individuals with SBBYSS, a whole-exome sequencing approach was used to demonstrate de novo protein-truncating mutations in the highly conserved histone acetyltransferase[escholar.manchester.ac.uk] 900000000000074008 Effective time 20140131 Has associated morphology Has finding site notation 699297004 Occurs in prefLabel Ohdo syndrome, Maat-Kievit-Brunner type Subset member[purl.bioontology.org]

  • Hereditary Leiomyomatosis and Renal Cell Cancer

    J.; Barclay, E.; Jaeger, E. E. M.; Kelsell, D.; Leigh, I.; Gorman, P.; Lamlum, H.; Rahman, S.; Roylance, R.[en.wikipedia.org] Phospho H2A levels were determined, after the indicated times, by Western blot using anti-phospho-Ser 129 -H2A antibodies.[doi.org] A 49-year-old woman with cutaneous and uterine leiomyomas, flank pain and a family history of hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome sought genetic[ncbi.nlm.nih.gov] Genetic counseling and testing for family members was also undertaken.[ncbi.nlm.nih.gov] Recognition of this syndrome allowed for appropriate surveillance as well as identification of at-risk family members.[ncbi.nlm.nih.gov]

  • Herpesviridae

    Smith, E. A. Shuster, and G. R. Pearson. 1984.[link.springer.com] UL30 and helicase primase UL52 : HCFC1 -dependent [173] HCFC1 Binds to viral genome [174] HCFC2 "" [175] Histone H1 (many gene symbols)Binds to viral genome [176] Histone H2A[wikigenes.org] Sequence alignment of the large tegument proteins across the family Herpesviridae indicates conservation of key catalytic residues amongst these viruses.[ncbi.nlm.nih.gov] Abstract Many individuals who are seronegative for one member of the human Herpesviridae family are strongly seropositive for other members.[ncbi.nlm.nih.gov] Members of the genus are viruses of mammals, mostly primates. Members may have serological cross-reaction with other members.[talk.ictvonline.org]