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1,778 Possible Causes for (Drosophila), 1b, homolog, protein,, snail, zebrafish

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  • Mental Retardation

    Humans are accidentally infected when they ingest raw snails or vegetables contaminated with the parasite larvae.[ncbi.nlm.nih.gov] Based on data showing that the two RNA binding proteins (RBPs), Fragile-X Mental Retardation Protein (FMRP) and heteronuclear Ribonucleoprotein C (hnRNP C), exert an opposite[ncbi.nlm.nih.gov] Recently, an unexpected function of FMRP in modulating the activity of Adenosine Deaminase Acting on RNA (ADAR) enzymes has been reported both in Drosophila and Zebrafish.[ncbi.nlm.nih.gov] Herein we describe two cases of autism in unrelated children with BDMR Syndrome, showing physical, cognitive, behavioral, and disease natural history homologies, with a very[ncbi.nlm.nih.gov] Abstract We investigated unknown in vivo functions of Torsin by using Drosophila as a model.[ncbi.nlm.nih.gov] Human homologs of at least 20 targets are associated with dominant intellectual disability, and 30 others with recessive neurodevelopmental dysfunction.[ncbi.nlm.nih.gov]

    Missing: 1b
  • Usher Syndrome

    Abstract Usher syndrome type 1B is a combined deaf-blindness condition caused by mutations in the MYO7A gene.[ncbi.nlm.nih.gov] Here, we developed an animal model system using zebrafish transgenesis and gene targeting to provide an explanation for this phenotype.[ncbi.nlm.nih.gov] […] evaluation of gene-based therapies to cure the retinal degeneration of USH1C patients: (i) gene augmentation using recombinant adeno-associated virus, (ii) genome editing by homologous[ncbi.nlm.nih.gov] Using a forward genetic screen in Drosophila, we identified an E3 ligase, Ubr3, as an essential gene for auditory organ development.[ncbi.nlm.nih.gov] PDZ domain-containing 7 protein (PDZD7) is a paralog of the scaffolding proteins harmonin and whirlin, which are implicated in Usher type 1 and type 2 syndromes.[ncbi.nlm.nih.gov] CLRN1 encodes Clarin-1, a glycoprotein with homology to the tetraspanin family of proteins.[ncbi.nlm.nih.gov]

    Missing: snail
  • Hypoparathyroidism

    Type 1b has no features of AHO. Both Type 1a and Type 1b are caused by mutations in the same gene (GNAS).[clinicaladvisor.com] Additionally, R59L causes reduced Gcm protein levels in a manner independent of the PEST domain signaling protein turnover.[ncbi.nlm.nih.gov] […] that function in calcium regulation similar to mammalian PTH; and (iii) implicating fhl1b and FHL1 as regulators of calcium homeostasis in zebrafish and human cells, respectively[ncbi.nlm.nih.gov] Sequence analysis of the candidate genes for isolated hypoparathyroidism encoding calcium-sensing receptor, parathyroid hormone, and glial cells missing homolog B did not[ncbi.nlm.nih.gov] Abstract Hypoparathyroidism, deafness, and renal dysplasia (HDR; OMIM 146255) syndrome is a rare disease, inherited dominantly and found to be related with GATA3 (GATA binding protein[ncbi.nlm.nih.gov] Transfection studies revealed the mutant mRNA but not expression of the Gcm2 protein.[ncbi.nlm.nih.gov]

    Missing: snail
  • Usher Syndrome Type 1J

    Usher subtype 1b is by far the most common form of Usher type 1 and accounts for over 40% of all cases.[usher-syndrome.org] Furthermore, in zebrafish and Drosophila melanogaster, CIB2 is essential for the function and proper development of hair cells and retinal photoreceptor cells.[ncbi.nlm.nih.gov] The entry represents a protein that has a high homology to the tumour suppressor Usher syndrome type-1C protein-binding protein 1, or known as MCC2 (mutated in colon cancer[ebi.ac.uk] Phenotype ID CIB2 cib2 Usher syndrome, type IJ 614869 ZEBRAFISH MODELS No data available PHENOTYPE No data available CITATIONS: None[zfin.org] […] did find evidence of historical meiotic recombinations of closely linked markers (for example, haplotypes A2 and A3 in Figure 1B ).[nejm.org] […] that associates with the USH1C protein, harmonin.[genecards.org]

    Missing: snail
  • Dilated Cardiomyopathy

    […] primary familial dilated cardiomyopathy CARDIOMYOPATHY, DILATED, 1A CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION CARDIOMYOPATHY, DILATED, 1B[ghr.nlm.nih.gov] Protein levels of Wnt, β‑catenin and Snail were determined using western blot analysis.[ncbi.nlm.nih.gov] […] and consistent with the clinical findings observed in our patients; a knockdown of TAX1BP3 causes elongation defects, enlarged pericard, and enlarged head structures in zebrafish[ncbi.nlm.nih.gov] Knockout of the homologous gene in zebrafish recapitulated a heart failure phenotype with pericardial edema, decreased ventricular systolic function, and embryonic mortality[ncbi.nlm.nih.gov] […] lateral sclerosis 5 Laminopathy : LMNA Mandibuloacral dysplasia Dunnigan Familial partial lipodystrophy Emery–Dreifuss muscular dystrophy 2 Limb-girdle muscular dystrophy 1B[en.wikipedia.org] We determined the amount of fibrosis and localization of ID proteins by immunohistochemistry.[ncbi.nlm.nih.gov]

    Missing: (Drosophila)
  • Waardenburg Syndrome

    Pigmentary disturbance of iris was present in two patients (I-2, II-2) ( Figure 1b ).[nature.com] […] microphthalmia-associated transcription factor), EDN3 (endothelin 3), EDNRB (endothelin receptor type B), SOX10 (encoding the Sry bOX10 transcription factor), and SNAI2 (snail[ncbi.nlm.nih.gov] Mutant PAX3 proteins that lose mitotic chromosome localization block cell proliferation and normal development of zebrafish.[ncbi.nlm.nih.gov] […] following genes: PAX3 (paired box 3), MITF (microphthalmia-associated transcription factor), EDNRB (endothelin receptor type B), EDN3 (endothelin 3), SNAI2 (snail homolog 2, Drosophila[ncbi.nlm.nih.gov] Patients with 1B may be indistinguishable from 1A at birth due to lack of any detectable pigment early on [7] , but during the first several years of life 1B patients accumulate[eyewiki.aao.org] Waardenburg syndrome type 4 WS4, which has been studied with a zebrafish model, [8] is caused by homozygous mutations in either the EDN3 gene or the EDNRB gene; heterozygous[emedicine.medscape.com]

  • Oculocutaneous Albinism

    ., reporting in this issue of the JCI, provide hope for a new treatment approach for OCA, as they demonstrate that treating mice that model OCA-1b with nitisinone, which is[ncbi.nlm.nih.gov] OTHER oculocutaneous albinism PAGES GENES INVOLVED Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID ABCC6 abcc6b.1 abcc6a abcc6b.2 Arterial calcification, generalized[zfin.org] This form of type I OCA thus is homologous to the temperature-related forms of albinism seen in the Siamese cat and the Himalayan mouse.[ncbi.nlm.nih.gov] We also analyzed two mutations in a Drosophila NCKX gene that have been reported to result in an increased susceptibility for seizures, and found that both resulted in mutant[ncbi.nlm.nih.gov] Tyrosinase- related protein-1 (TRP-1) was not detected in the OCA melanocytes by use of various anti-TRP-1 probes.[ncbi.nlm.nih.gov] Most patients with OCA-1B will burn on exposure to sun and will subsequently tan.[clinicaladvisor.com]

    Missing: snail
  • Congenital Myasthenic Syndrome

    CMS congenital myasthenia congenital myasthenic syndromes MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL MYASTHENIC SYNDROME[ghr.nlm.nih.gov] Dougherty DA, Lester HA: Snails, synapses and smokers . Nature 2001, 411 :252–253. PubMed CrossRef Google Scholar 29.[link.springer.com] , human Muscle Proteins Receptors, Cholinergic Receptors, Nicotinic peripheral membrane protein 43K Grant support G117/490/Medical Research Council/United Kingdom[ncbi.nlm.nih.gov] Morpholino-mediated knockdown of the two MYO9A orthologues in zebrafish, myo9aa/ab, demonstrated a requirement for MYO9A in the formation of the neuromuscular junction during[ncbi.nlm.nih.gov] Interestingly, an Alu-mediated unequal homologous recombination may have caused the deletion.[ncbi.nlm.nih.gov] Our Drosophila studies support a role for this synaptotagmin point mutation in disease etiology.[ncbi.nlm.nih.gov]

  • Albinism

    Those carrying either a clinically presumed or moleculary confirmed diagnosis of oculocutaneous albinism types 1B and 2 had the best visual outcomes, consistent with previous[ncbi.nlm.nih.gov] The snail 2 protein probably plays a role in the formation and survival of melanocytes.[ghr.nlm.nih.gov] Zebrafish that lack iridophores are known as roy mutants , those that lack melanophores as albino mutants , and those which lack both melanophores and iridophores are ruby[en.wikipedia.org] To evaluate the histidine mutational effect, all mutated structures were built using homology modelling.[ncbi.nlm.nih.gov] We also analyzed two mutations in a Drosophila NCKX gene that have been reported to result in an increased susceptibility for seizures, and found that both resulted in mutant[ncbi.nlm.nih.gov] RESULTS: Specific antibodies to the P and MATP proteins were generated that work well for Western blotting and immunohistochemistry.[ncbi.nlm.nih.gov]

  • Ivermectin

    This product is composed of both Ivermectin B 1a ( 90%) and Ivermectin B 1b . Deuterated analog also available.[rndsystems.com] Ivermectin efficacy against Biomphalaria, intermediate host snail vectors of Schistosomiasis. J Antibiot. 2017. doi: 10.1038/ja.2017.31 (Epub ahead of print) .[malariajournal.biomedcentral.com] Although the electron microscopy structure of zebrafish GlyRα1 complexed with ivermectin demonstrated a similar binding orientation, detailed structural information on the[ncbi.nlm.nih.gov] The homology model was analyzed for structural properties via a 100 ns molecular dynamics (MD) study.[ncbi.nlm.nih.gov] Identification of a Drosophila melanogaster glutamate-gated chloride channel sensitive to the antiparasitic agent avermectin. J Biol Chem 1996 ;271: 20187 - 20191 13.[nejm.org] DNA, Viral RNA, Viral Viral Proteins Berberine abamectin Ivermectin[ncbi.nlm.nih.gov]