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5,412 Possible Causes for 3,, amiloride sensitive, cation, channel, human, protein,, testis

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  • Influenza

    […] years, using data from a cohort study with 266 children who had received 2 doses (0.25 mL/dose for 3 years old, 0.5 mL/dose for 3 years old) in the 2006/2007 season.[ncbi.nlm.nih.gov] Like hemagglutinin and neuraminidase, the M2 protein is an integral membrane protein of the influenza A virus 4 , 5 .[dx.doi.org] Thus, high pH out closes the channel and low pH out opens (activates) the channel.[doi.org] The rapid evolution of influenza A and B viruses contributes to annual influenza epidemics in humans.[ncbi.nlm.nih.gov] Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) syndrome, also known as drug-induced hypersensitivity syndrome (DHIS), is an acute, potentially life-threatening[ncbi.nlm.nih.gov] Transplant recipients who acquire influenza experience high rates of pulmonary complipenta increase-spacing 1 cations, particularly viral pneumonia [ 14 ].[doi.org] When reported, hypersensitivity to thimerosal usually has consisted of local, delayed hypersensitivity reactions ( 226 ).[cdc.gov]

    Missing: testis
  • Achromatopsia

    Registries for Achromatopsia 3: My Retina Tracker These resources provide more information about this condition or associated symptoms.[rarediseases.info.nih.gov] GNAT2 encodes the cone photoreceptor-specific alpha-subunit of transducin, a G-protein of the phototransduction cascade, which couples to the visual pigment(s).[ncbi.nlm.nih.gov] In contrast, co-expression of a presumptive null mutation of hCNGB3 (T383f.s.ΔC) with hCNGA3 produced channels with properties indistinguishable from homomeric hCNGA3 channels[doi.org] Only after long exposure were some faint signals observed in RNA from testis and the WERI-Rb1 retinoblastoma cell line (data not shown).[doi.org] Congenital hereditary conditions in which there is a lack of cone function in humans cause achromatopsia, an autosomal recessive trait, characterized by low vision, photophobia[ncbi.nlm.nih.gov] […] visual acuity, and by extreme sensitivity to bright light Other Words from achromatopsia achromatope \ ˌā-ˈkrō-mə-ˌtōp \ noun What was far more disabling was the painful hypersensitivity[merriam-webster.com] […] genetically heterogeneous and segregates with mutations in CNGA3 or CNGB3 genes, which respectively encode for alpha- and beta-subunits of the cyclic-nucleotide-gated (CNG) cation[ncbi.nlm.nih.gov]

  • Mucolipidosis Type 4

    "On 6 November 1987, we were given a diagnosis of Mucolipidosis Type 3 (ML3), a rare genetic disorder.[nzord.org.nz] […] transient receptor potential (TRP) proteins.[ncbi.nlm.nih.gov] Transient receptor potential cation channels in disease . Physiol. Rev. 87 , 165–217 (2007) 4. Bassi, M. T. et al.[doi.org] Desnick and Ruth Kornreich , Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases , Human Mutation , 31 , 11 , (1240-1250) , ([doi.org] […] disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Photophobia Extreme sensitivity of the eyes to light Light hypersensitivity[rarediseases.info.nih.gov] Smooth muscle cells isolated from the thoracic aorta, or cerebral arteries, of trpc6 ( / ) mice demonstrate higher basal cation entry, increased TRPC-mediated cation currents[doi.org] Lee , The Pathology of the Skeleton in Lysosomal Storage Diseases , Pathobiology of Human Disease , 10.1016/B978-0-12-386456-7.03112-9 , (874-892) , (2014) .[doi.org]

    Missing: testis
  • LIG4 Syndrome

    Am J Med Genet A . 137A (3): 283–7. doi : 10.1002/ajmg.a.30869 . PMID 16088910 . External links [ edit ][en.wikipedia.org] Tandem BRCT domains of LigIV mediate a unique mode of protein-protein interaction.[mcb.asm.org] If the C-terminal tail followed the trajectory of this channel, it could contact the major groove of the DNA duplex downstream of the nick.[nature.com] ) Description Actions Graphical view Length Chain i PRO_0000059576 1 – 911 DNA ligase 4 Add BLAST 911 Proteomic databases PTM databases Expression i Tissue specificity i Testis[uniprot.org] PAGES GENES INVOLVED Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID LIG4 lig4 LIG4 syndrome 606593 ZEBRAFISH MODELS No data available PHENOTYPE No data available[zfin.org] The two mutant lines, Lig4 57 and Lig4 5 , were equally hypersensitive to IR. The hypersensitivity was most severe after 4 hr of embryonic development.[genetics.org] The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models.[humpath.com]

  • Barth Syndrome

    [Kelley, RI; Cox G (unpublished)]. 3-Methylglutaconic Aciduria Type II Although a number of patients with Barth syndrome have been said to have normal levels of 3-methylglutaconic[web.archive.org] Combining those profiles with gene set enrichment analysis allows detecting significantly affected protein complexes.[biorxiv.org] Liu, Y, Sato, T, O’Rourke, B, Marban, E 1998 (1998) Mitochondrial ATP-dependent potassium channels: novel effectors of cardioprotection?[dx.doi.org] Instead, the terminally differentiated cysts in the TAZ mutant testis appear grossly disorganized ( Fig. 2 D ).[pnas.org] [Date last reviewed: 2016-09-01] Comments on ortholog(s) Ortholog of human TAZ (1 Drosophila to 1 human).[flybase.org] Avoid if allergic or hypersensitive to maitake.[health24.com] Membrane fusion and the lamellar-to-inverted-hexagonal phase transition in cardiolipin vesicle systems induced by divalent cations . Biophys. J 77 , 2003-2014.[molbiolcell.org]

  • Carbachol

    In this study, the effect of carbachol on insulin-stimulated PI 3-kinase (PI3K) activity was examined in SH-SY5Y cells.[ncbi.nlm.nih.gov] Abstract The TAO (for thousand-and-one amino acids) protein kinases activate p38 mitogen-activated protein (MAP) kinase cascades in vitro and in cells by phosphorylating the[ncbi.nlm.nih.gov] NIP-142 concentration-dependently blocked the human G protein-coupled inwardly rectifying potassium channel current (GIRK1/4 channel current) expressed in HEK-293 cells with[ncbi.nlm.nih.gov] CONCLUSIONS: Lack of carbachol response suggests the absence of cholinergic receptors within the sacs associated with undescended testis.[ncbi.nlm.nih.gov] Our data support an original transcriptional upregulation of human NPR-A in response to cAMP-induced agents, and in response to carbachol.[ncbi.nlm.nih.gov] Reduction of elevated intraocular pressure (IOP) in patients with primary, open-angle (chronic simple, noncongestive) glaucoma. c d Used mainly in patients refractory or hypersensitive[drugs.com] Taken together, these results suggest that carbachol and guanine nucleotides regulate the activation of a cation channel that conducts calcium.[ncbi.nlm.nih.gov]

  • Channelopathy

    Mankodi A 1 , Grunseich C 2 , Skov M 3 , Cook L 4 , Aue G 4 , Purev E 4 , Bakar D 2 , Lehky T 5 , Jurkat-Rott K 6 , Pedersen TH 3 , Childs RW 4 .[ncbi.nlm.nih.gov] AKAP9 protein, human Cytoskeletal Proteins KCNE1L protein, human Potassium Channels, Voltage-Gated RyR2 protein, human Ryanodine Receptor Calcium Release Channel SEMA3A protein[ncbi.nlm.nih.gov] Of the many ion channel causes of epilepsy, the h-channel is a potential new addition. H-channels are voltage-gated ion channels with unique biophysical properties.[ncbi.nlm.nih.gov] […] waggler mice Brain 300 RYR1 GDB: 120359 19q13.1 Ryanodine receptor 1, Ca release channel, 3 splice variants, malignant hyperthermia 1, central core disease Skeletal muscle, testis[physrev.physiology.org] Human deafness has not previously been linked to defects in LTCCs.[ncbi.nlm.nih.gov] Response to a serotonin agonist (enhancer – busiprone) suggests hypersensitive serotonin receptors are present in CFS.[phoenixrising.me] Germ cell mutations cause familial hyperaldosteronism type 3, which is associated with adrenal zona glomerulosa hyperplasia, rather than adenoma.[ncbi.nlm.nih.gov]

  • Liddle Syndrome

    S1 - 1st & 2nd Medical Students S2 - 3rd & 4th Medical Students L1 - PGY1 & PGY2 L2 - PGY3 L3 - PGY4 L4 - PGY5 L5 - Fellow L6 - 1-3 years in practice L7 - 3-10 years in practice[medbullets.com] […] include the short highly conserved Pro-rich segments present in the C terminus of beta and gamma subunits; these segments are similar to SH3-binding domains that mediate protein-protein[ncbi.nlm.nih.gov] Abstract The amiloride-sensitive epithelial sodium channel (ENaC) controls sodium reabsorption in the distal nephron. Its activity is under the control of aldosterone.[ncbi.nlm.nih.gov] […] indicate independent roles of beta and gamma subunits in the negative regulation of channel activity, and identify a new gene in which mutation causes a salt-sensitive form of human[ncbi.nlm.nih.gov] Abstract The epithelial amiloride-sensitive sodium channel (ENaC) controls transepithelial Na movement in Na( )-transporting epithelia and is associated with Liddle syndrome[ncbi.nlm.nih.gov] Potassium and hydrogen ions account for the majority of these cations and thus, LS patients present with hypokalemia and metabolic alkalosis.[symptoma.com] Int J Mol Sci. 2018 Mar 11;19(3). pii: E812. doi: 10.3390/ijms19030812.[ncbi.nlm.nih.gov]

    Missing: testis
  • Inflammation

    Monocyte chemoattractant protein–3 (MCP-3) was identified as a physiological substrate of gelatinase A.[doi.org] The rate of protein synthesis in vivo was measured by the incorporation of [3H]phenylalanine into liver proteins in a chronic (5 day) intra-abdominal abscess model.[doi.org] Abstract Voltage-gated calcium channels (VGCCs) are classified into high-voltage-activated (HVA) channels and low-voltage-activated channels consisting of Ca v 3.1-3.3, known[ncbi.nlm.nih.gov] Hedger , Immunology of the Testis and Male Reproductive Tract , Comprehensive Toxicology , 10.1016/B978-0-08-046884-6.01112-X , (189-230) , (2010) .[doi.org] School of Human Kinetics and Allan McGavin Sports Medicine Centre, 3055 Wesbrook Mall, University of British Columbia, Vancouver, BC V6T 1Z3, Canada CA 3.[doi.org] , we investigated the role of Aspergillus proteases-which contribute to the pathogenesis of Aspergillus-induced diseases such as allergic bronchopulmonary aspergillosis, hypersensitivity[ncbi.nlm.nih.gov] Nadine Leber, Lutz Nuhn and Rudolf Zentel , Cationic Nanohydrogel Particles for Therapeutic Oligonucleotide Delivery , Macromolecular Bioscience , 17 , 10 , (2017) .[doi.org]

  • Coxsackie Virus

    Kawada M 1, 2 , Inoue H 1 , Kajikawa M 3 , Sugiura M 3 , Sakamoto S 1 , Urano S 3 , Karasawa C 3 , Usami I 1 , Futakuchi M 4 , Masuda T 1 .[ncbi.nlm.nih.gov] [bsid125147] PodNet: protein-protein interactions in the podocyte PodNet: protein-protein interactions in the podocyte PodNet is a manually curated network of protein-protein[ncbi.nlm.nih.gov] After genome has been released, the channel shrinks (By similarity).[uniprot.org] However, conventional knockout of CXADR leads to embryonic lethality, making the study of CXADR in the testis impossible.[endocrine-abstracts.org] Information about CAR expression in normal and diseased human skeletal muscle is lacking.[ncbi.nlm.nih.gov] Hypersensitivity reaction to azathioprine. S Med J 1998; 91:471-4. [PMID 9598858] Pau AK. Antiretroviral therapy-associated serious and life-threatening toxicities.[pancreas.imedpub.com] Most are readily inactivated at 42 C, but stability and heat resistance is increased in the presence of sulphydral reducing agents and magnesium cations Footnote 1 .[canada.ca]

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