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24 Possible Causes for SMYD1, human, protein

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  • Marginal Zone Lymphoma

    […] two additional cases with SMYD1 alterations.[ncbi.nlm.nih.gov] CREB-Binding Protein CREBBP protein, human TNFAIP3 protein, human Tumor Necrosis Factor alpha-Induced Protein 3[ncbi.nlm.nih.gov] […] dosage* Cryoglobulinemia/drug therapy Cryoglobulinemia/immunology Cryoglobulinemia/pathology* Female Hepatitis C, Chronic/complications Hepatitis C, Chronic/immunology* Humans[ncbi.nlm.nih.gov]

  • Amegakaryocytic Thrombocytopenia

    ALKBH6, CARM1, SHC2, SPRED3, VGLL4, RARG, FGF11, IL15RA, TNKS2, SMARCD3, SPIB, NTF3, WNT9B, ARHGAP10, GSK3A, RBMXL1, FOSL1, SPRY3, GSTT1, VGLL3, ZC3H12D, NFATC2, PRMT2, RBMX, SMYD1[mendelian.co] In this article, the authors addressed the limitations on control cells, the human cell line K562 and primary umbilical cord blood CD34 stem cells from StemExpress, before[stemexpress.com] We investigated whether the point mutation also affected the physical protein-protein interaction between HoxA11 and Meis1b.[ncbi.nlm.nih.gov]

  • Autoimmune Polyendocrinopathy

    -20 homolog 2 (Drosophila) -1.27819 MMP14 matrix metallopeptidase 14 (membrane-inserted) -1.2597 GBX2 gastrulation brain homeobox 2 -1.25122 NANOG Nanog homeobox -1.2483 SMYD1[amp.pharm.mssm.edu] Murine studies have linked AIRE to thymocyte selection and peripheral deletional tolerance, but the pathogenesis of the human disease remains unclear.[ncbi.nlm.nih.gov] Our results point to a function of the AIRE1-PHD1 domain in protein-protein interactions, which is impaired in some APECED mutations. [Indexed for MEDLINE] Free full text[ncbi.nlm.nih.gov]

  • Bangstad Syndrome

    -20 homolog 2 (Drosophila) -1.27819 MMP14 matrix metallopeptidase 14 (membrane-inserted) -1.2597 GBX2 gastrulation brain homeobox 2 -1.25122 NANOG Nanog homeobox -1.2483 SMYD1[amp.pharm.mssm.edu] Overall, autoantibodies to the 49 kDa cytosolic autoantigen, human pituitary enolase were detected in 39 of the 67 patients (58%).[mattioli1885journals.com] Halonen M et. al. (2002) AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype[moldiag.com]

  • Familial Congenital Mirror Movements 2

    ALKBH6, CARM1, SHC2, SPRED3, VGLL4, RARG, FGF11, IL15RA, TNKS2, SMARCD3, SPIB, NTF3, WNT9B, ARHGAP10, GSK3A, RBMXL1, FOSL1, SPRY3, GSTT1, VGLL3, ZC3H12D, NFATC2, PRMT2, RBMX, SMYD1[mendelian.co] Human RAD51 shows predominant expression in testis, ovary, and lymphoid tissue.[sigmaaldrich.com] Multiple protein interactions have been demonstrated for the mammalian Rad51 protein.[mskcc.org]

  • Blepharophimosis-Intellectual Disability Syndrome Type Ohdo

    Protein 3 4 Activator-Recruited Cofactor 240 KDa Component 3 4 OPA-Containing Protein 3 4 CAG Repeat Protein 45 3 4 TRAP230 3 4 TNRC11 3 4 ARC240 3 4 CAGH45 3 4 HOPA 3 4[genecards.org] SMYD1 is the underlying gene for the AnWj negative blood group phenotype.[variantyx.com] Genetics T2 - American Journal of Human Genetics JF - American Journal of Human Genetics SN - 0002-9297 IS - 3 ER -[rug.nl]

  • Combined Immunodeficiency due to LRBA Deficiency

    […] and chs1/beige proteins.[genecards.org] SMYD1 is the underlying gene for the AnWj negative blood group phenotype.[variantyx.com] They have provided new insights into regulation of the human immune system, and our elucidating their pathogenic mechanisms has also led to new medical therapies tailored[grantome.com]

  • Pseudopseudohypoparathyroidism

    […] pseudohypoparathyroidism (PHP) type Ia and Albright's hereditary osteodystrophy (AHO) is associated with deficient activity of the stimulatory guanine nucleotide-binding protein[ncbi.nlm.nih.gov] ALKBH6, CARM1, SHC2, SPRED3, VGLL4, RARG, FGF11, IL15RA, TNKS2, SMARCD3, SPIB, NTF3, WNT9B, ARHGAP10, GSK3A, RBMXL1, FOSL1, SPRY3, GSTT1, VGLL3, ZC3H12D, NFATC2, PRMT2, RBMX, SMYD1[mendelian.co] This central region of mouse chromosome 1 shares a region of homology with the long arm of human chromosome 2, suggesting that the human homologue of Stk25 would also map[ncbi.nlm.nih.gov]

  • Pseudohypoparathyroidism

    , pseudo-PHP (pPHP), PHP-Ib, PHP-Ic and PHP-II according to the presence or absence of AHO, together with an in vivo response to exogenous PTH and the measurement of Gsα protein[ncbi.nlm.nih.gov] ALKBH6, CARM1, SHC2, SPRED3, VGLL4, RARG, FGF11, IL15RA, TNKS2, SMARCD3, SPIB, NTF3, WNT9B, ARHGAP10, GSK3A, RBMXL1, FOSL1, SPRY3, GSTT1, VGLL3, ZC3H12D, NFATC2, PRMT2, RBMX, SMYD1[mendelian.co] Author information 1 Human Genetics and Genomic medicine, Faculty of Medicine, University of Southampton, Southampton, UK. 2 1] Human Genetics and Genomic medicine, Faculty[ncbi.nlm.nih.gov]

  • Uveal Coloboma - Cleft Lip and Palate - Intellectual Disability

    SMYD1 is the underlying gene for the AnWj negative blood group phenotype.[variantyx.com] Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles.[rarediseases.info.nih.gov] Aliases for YAP1 Gene Yes Associated Protein 1 2 3 5 Yes-Associated Protein YAP65 Homolog 3 4 Yes-Associated Protein 1 3 4 Protein Yorkie Homolog 3 4 YAP65 3 4 Transcriptional[genecards.org]