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620 Possible Causes for 1 BP, 2381G, DEL,, RB1

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  • Influenza

    Vitamin D inhibits growth of human airway smooth muscle cells through growth factor-induced phosphorylation of retinoblastoma protein and checkpoint kinase 1 .[doi.org] CrossRef Google Scholar Miraglia del Giudice, Michele Indolfi, Cristiana and Strisciuglio, Caterina 2018. Vitamin D .[doi.org] Analysis was based on nucleotides 1–1012 (1,012 bp) of the HA gene and 90–945 (856 bp) of the M gene.[doi.org] Jones M, Del Mar C (2006) Safety of neuraminidase inhibitors for influenza. Expert Opin Drug Saf 5: 603–608. View Article Google Scholar 68.[dx.doi.org]

    Missing: 2381G
  • Visceral Larva Migrans

    These lesions, because they resemble retinoblastoma, have in the past led to unnecessary enucleation of the eye.[pediatrics.aappublications.org] Presentación del caso.[revistas.unal.edu.co] All four mutations that occurred at 124, 502, 613, and 789 bp in TES-26/TOPO were successfully corrected (data not shown). FIG. 1.[jcm.asm.org] . , del V Guardis , M. & Linzitto , O.R. ( 2000 ) Human toxocarosis. Its seroprevalence in the city of La Plata . Memorias do Instituto Oswaldo Cruz 95 , 281 – 285 .[cambridge.org]

    Missing: 2381G
  • Rhabdomyosarcoma

    However, the role of RB1 loss in RMS is controversial, with studies finding that RB1 is largely unaffected in both ERMS and ARMS or that RB1 is frequently lost, especially[nature.com] Caracterización del mecanismo de activación de la vía Hedgehog en el rabdomiosarcoma : el papel oncogénico de los ligandos / memoria presentada por Ana Almazán Moga ; tutor[ddd.uab.cat] , glutathione, N-acetylcysteine and ferrostatin-1.[ncbi.nlm.nih.gov] Ladgham , Tumori del rinofaringe , EMC - Otorinolaringoiatria , 10.1016/S1639-870X(07)70188-5 , 6 , 3 , (1-23) , (2007) .[doi.org]

    Missing: 2381G
  • Orbital Neoplasm

    […] improvement in the therapeutic response or in the actual survival rates of children with such lesions as Wilms' tumour, brain tumours, rhabdomyosarcomas, Ewing's sarcoma, retinoblastoma[books.google.com] Malattie del sangue e degli organi ematopoietici. McGraw-Hill Ed., 1993; 289. Google Scholar [9] V. Mazzeo. Ecografia dell’apparato oculare. Testo-Atlante.[link.springer.com] Genomic DNA was digested to fragment lengths of 300 to 2000 bp.[iovs.arvojournals.org] In 2002 about 2,300 primary eye tumors will be diagnosed in the United states, 75% of which will be choroidal melanomas, 20% retinoblastomas, and the remainder a wide variety[books.google.com]

    Missing: 2381G
  • B-Cell Prolymphocytic Leukemia

    Retinoblastoma gene deletions in B-cell chronic lymphocytic leukemia Genes Chromos Cancer 1992 4 : 250–256 15.[dx.doi.org] Neither IgVH mutations, CD38 expression nor del(17p) influenced patients' outcome.[ncbi.nlm.nih.gov] In 1 case, a 27-bp deletion resulted in the expression of a p53 protein lacking 9 amino acids from the DNA binding region.[ncbi.nlm.nih.gov] Del(13q) was detected in 3/11 (27%) cases; in two cases it was hemizygous. All three del(13q) cases also showed del(17p).[doi.org]

    Missing: 2381G
  • 3p Deletion Syndrome

    […] previously demonstrated involvement of the 3p14.2 region in a familial case, these findings suggest that RCCs may arise by the deletion of a "recessive cancer gene," as do retinoblastoma[skemman.is] A terminal deletion of the short arm of chromosome 3: karyotype 46, XY, del (3) (p25-pter); a case report and literature review.[rarediseases.org] ) 1] encompassing the genes of CHL1, CNTN4, CRBN, LRRN1, ITPR1, and SRGAP3, but not involving the markers D3S1263 and D3S3594.[ingentaconnect.com] Relapsing Polychondritis Renal Agenesis, Bilateral Renal Cell Carcinoma Renal Glycosuria Respiratory Distress Syndrome, Infant Restless Legs syndrome Retinitis Pigmentosa Retinoblastoma[arrayit.com]

    Missing: 2381G
  • Refractory Anemia

    We investigated the involvement of the RB1 gene in a case of refractory anemia with del(13)(q12q14) by florescence in situ hybridization (FISH) analysis using the RB1 locus[ncbi.nlm.nih.gov] Performed the experiments: AG AP MN BP CF TL LM MD MJ SK DB. Analyzed the data: JB AP HC JW. Wrote the paper: JB AP JW. References 1.[journals.plos.org] PLoS One. 2015 May 8;10(5):e0126555. doi: 10.1371/journal.pone.0126555. eCollection 2015. del Rey M 1 , Benito R 1 , Fontanillo C 1 , Campos-Laborie FJ 1 , Janusz K 1 , Velasco-Hernández[ncbi.nlm.nih.gov] (7q), del(5q), del(13q),del(11q), del(12p),del(9q)]  Distinguishes between MDS and acute myeloid leukemia (AML)  Prognostic 14.[slideshare.net]

    Missing: 2381G
  • Wolf Hirschhorn Syndrome

    Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 68:820-823, 1971. ‎[books.google.ro] We report on the unusual cytogenetic findings in a girl with moderate mental retardation and a mosaic karyotype 46,XX,del(4)(p16)/46,XX,der(4)(qter-q31.3::pter-qter).[ncbi.nlm.nih.gov] RESULTS: A heterozygous 2,767,380-bp terminal 4p deletion was detected in patients 1 and 2 and a heterozygous 5,047,291-bp terminal 4p deletion was detected in patient3.[ncbi.nlm.nih.gov] […] chromosome is transferred to another chromosome) as may occur in congenital anterior polar cataract, deletion (a loss of a piece of chromosome) as in aniridia, choroideremia, retinoblastoma[medical-dictionary.thefreedictionary.com]

    Missing: 2381G
  • B-Cell Chronic Lymphocytic Leukemia

    FISH studies using unique-sequence specific probes for the RB-1 (retinoblastoma) gene and the D13S319 locus at the 13q14 band showed a monoallelic loss for the D13S319 locus[ncbi.nlm.nih.gov] (13q14.3), trisomy 12, del(11q22.3) (ATM), TP53 deletion, del(6q21) and IgH translocation/deletion.[ncbi.nlm.nih.gov] Our results show that (1) 5000 bp is the best cutoff point for the definition of short TL; (2) short TL associates with markers of proliferation and rapid disease kinetics[doi.org] In all cases, biallelic deletion affected the D13S25 locus, and in 2 of the 43 patients there was also biallelic RB1 deletion.[doi.org]

    Missing: 2381G
  • Deafness, Autosomal Recessive, Type DFNB1A

    (RB1) 180200 RB1 614041 Breast-ovarian cancer familial susceptibility to, 1 (BROVCA1) 604370 BRCA1 112705 Breast-ovarian cancer familial susceptibility to, 2 (BROVCA2) 612555[ucl.ac.uk] W24X G to A at 71 Trp at 24 into Stop E47X G to T at 139 Glu at 47 into Stop 299–300delAT del of AT at 299 Frameshift 167delT del of T at 167 Frameshift 176–191del16 del[entokey.com] 121011.0005 ; DEAFNESS, AUTOSOMAL RECESSIVE, 1; DFNB1 Identified Mutation 1-BP DEL, 35G ; A mutation consisting of deletion of 1 guanine (G) in a run of 6 guanines extending[catalog.coriell.org] Exon 1 Intron 1… 293 bp Ma 363 bp IVS1 1G A/ IVS1 1G A IVS1 1G A/ Wt Wt/Wt IVS1 1G A/ Wt IVS1 1G A/ IVS1 1G AWt/Wt 501/489 bp 404 bp 331 bp 242 bp 190 bp 147 bp 110/111 bp[docslide.com.br]

    Missing: 2381G

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