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253 Possible Causes for 3, Hox

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  • Hand-Foot-Genital Syndrome

    Show Summary Details Preview HOX gene mutations in humans associated with specific morphological defects have been described for 8 of the 39 HOX genes, HOXA1, HOXA2, HOXA11[oxfordindex.oup.com] Tas E 1 , Sebastian J 2 , Madan-Khetarpal S 2 , Sweet P 3 , Yatsenko AN 4, 5, 6 , Pollock N 4, 5 , Rajkovic A 4, 5, 6, 7 , Schneck FX 8 , Yatsenko SA 4, 6, 7 , Witchel SF[ncbi.nlm.nih.gov] Am J Med Genet A. 2016 Mar;170(3):717-24. doi: 10.1002/ajmg.a.37478. Epub 2015 Nov 21.[ncbi.nlm.nih.gov]

  • Syndactyly Type 3

    […] mutation databases PTM / Processing i Molecule processing Feature key Position(s) Description Actions Graphical view Length Chain i PRO_0000200244 1 – 343 Homeobox protein Hox-D13[uniprot.org] Last updated: 6/3/2013 Making a diagnosis for a genetic or rare disease can often be challenging.[rarediseases.info.nih.gov] HOX proteins are only starting to be unveiled [9].[journals.plos.org]

  • 3p Deletion Syndrome

    Altered HOX and WNT7A expression in human lung cancer. Proc. Natl. Acad. Sci. USA , 97 : 12776 -12781, Zhang R. Z., Pan T. C., Zhang Z. Y., Mattei M.[cancerres.aacrjournals.org] […] list of Chromosome 3, monosomy 3p signs or Chromosome 3, monosomy 3p symptoms.[checkorphan.org] Synonyms Chromosome 3, Deletion of Distal 3p Chromosome 3, Distal 3p Monosomy Monosomy 3p Disorder Subdivisions None General Discussion Chromosome 3, Monosomy 3p is a rare[asyoulook.com]

  • Atypical Teratoid Rhabdoid Tumor

    The ATRT-MYC group is comprised of mostly supratentorial tumors with focal SMARCB1 deletions and over-expression of the MYC and HOX cluster. [10] The development of these[emedicine.com] Central Nervous System Tumors Track 2006 ASCO Annual Meeting Sort by presentation order title speaker Search Virtual Meeting Presentation Title Speaker/Role Media Rare Tumors 3:[web.archive.org] Of the remaining 31 patients, 22 were younger than 3 years.[ncbi.nlm.nih.gov]

  • T-cell Acute Lymphoblastic Leukemia

    T-cell ALL in a 13-year-old boy with t(2;12)(q31;p13) involving ETV6, resulting in the relocation of the ETV6 from 12p13 to 2q31 locus that harbors the class 1 homeobox gene (HOX[ncbi.nlm.nih.gov] We report a case of a 56-year-old woman who developed T-cell ALL after a 3-year remission of AML (M2).[ncbi.nlm.nih.gov] Abstract We describe a patient with refractory T-cell acute lymphoblastic leukemia who successfully underwent unmanipulated stem cell transplantation from an HLA 3-loci mismatched[ncbi.nlm.nih.gov]

  • Hypochondroplasia

    Characterization of the human HOX 7 cDNA and identification of polymorphic markers. Hum. molec.[nature.com] Amino acid substitutions Asn540Lys, Asn540Thr and Ile538Val in the fibroblast growth factor receptor 3 (FGFR3) are considered to cause hypochondroplasia.[ncbi.nlm.nih.gov] Abstract To carry out the genetic screening for the common mutation in the first tyrosine kinase domain (TK1) of the fibroblast growth factor receptor 3 gene (FGFR3) in a[ncbi.nlm.nih.gov]

  • Acute Megakaryocytic Leukemia

    Drosophila genetic experiments identified spen as involved in connecting the Raf and Hox pathways.[ncbi.nlm.nih.gov] […] to cytosine arabinoside, accompanied by significantly decreased expression of PIK3CD, which encodes the delta catalytic subunit of the survival kinase, phosphoinositide 3[ncbi.nlm.nih.gov] This case presentation is about 16 months female who has a rare abnormality (trisomy 3) alongside acute megakaryoblastic leukemia.[cancerjournal.net]

  • Fabry Disease

    Goodman , Limb malformations and the human HOX genes , American Journal of Medical Genetics , 112 , 3 , (256-265) , (2002) .[doi.org] After 3 years of the ERT, repeat biopsy showed little renal GL-3 deposition, resolution of foot process effacement, and a dramatic improvement in nephrin expression.[ncbi.nlm.nih.gov] […] and normal plasma GL-3 levels.[ncbi.nlm.nih.gov]

  • Glioblastoma Multiforme

    Provocatively, the HOX cluster was reminiscent of a "self-renewal" signature (P .008; Gene Set Enrichment Analysis) recently characterized in a mouse leukemia model.[ncbi.nlm.nih.gov] In this review, we summarize the receptor tyrosine kinase-Ras-PI 3 kinase-Akt signaling network, focusing on the potential molecular targets for anti-signaling molecular therapies[ncbi.nlm.nih.gov] See the ICD-O-3 errata on this website and the NAACCR ICD-O-3 implementation guidelines for U.S. instructions.[seer.cancer.gov]

  • Celecoxib

    COX, cyclooxygenase; DP, PGD 2 receptor; EP, PGE 2 receptor; FP, PGF 2 receptor; HOX, hydroperoxidase; IP, PGI 2 receptor; TP, TxA 2 receptor.[dx.doi.org] BACKGROUND AND PURPOSE: The transient receptor potential vanilloid 3 (TRPV3) channel is a heat-sensitive ion channel, which is predominantly expressed in keratinocytes.[ncbi.nlm.nih.gov] This work led to the identification of 1i (4-[5-(4-methylphenyl)-3-(trifluoromethyl)- H-pyrazol-1-yl]benzenesulfonamide, SC-58635, celecoxib), which is currently in phase[ncbi.nlm.nih.gov]

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