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208 Possible Causes for Clcn2, protein,, rat

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  • Canavan Disease

    Much higher doses of GTA were evaluated for toxicity in the tremor rat model of CD.[ncbi.nlm.nih.gov] ALDH3A2, ALDH6A1, AMN, AMPD2, ANK3, AP4B1, AP4S1, APOPT1, ARHGAP31, ARHGEF10, ARNT2, ARSA, ASNS, ASPA, ASXL1, AUH, BCAP31, BCS1L, BEST1, BMP4, BRAT1, CARS2, CCDC88A, CHMP2B, CLCN2[genedx.com] […] on incorporation of 32 P into proteins.[link.springer.com]

  • Pelizaeus-Merzbacher Disease

    Here we describe a rat model of the severe connatal form of PMD and provide a detailed characterization of its pathology and molecular biology, prior to testing therapeutic[ncbi.nlm.nih.gov] NDUFS8 SDHA SURF1 Leukoenzephalopathie diffus mit Sphäroiden ATN1 Marinesco-Sjögren Syndrom CTDP1 SIL1 MASA Syndrom L1CAM MELAS mit Metachromatischen Leukodystrophie ARSA CLCN2[diagenos.com] Abstract Pelizaeus-Merzbacher disease (PMD) is a rare X-linked leukodystrophy caused by proteolipid protein 1 (PLP1) gene mutations.[ncbi.nlm.nih.gov]

  • Idiopathic Generalized Epilepsy

    Two rat models of IGE with absence seizures, the Genetic Epilepsy Rats from Strasbourg (GAERS) and Wistar Albino Glaxo from Rijswijk (WAG/Rij), have proven valuable for translational[ncbi.nlm.nih.gov] Lerche Zeitschrift für Epileptologie (2011) No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy María I Niemeyer , L Pablo Cid , Francisco V Sepúlveda[nature.com] […] membrane proteins (Syntaxin 1A and SNAP-25) in patients with idiopathic generalized epilepsy (IGE).[ncbi.nlm.nih.gov]

  • Sarcosinemia

    Human sarcosine dehydrogenase exhibits 89% identity with rat liver sarcosine dehydrogenase and strong homology ( approximately 35% identity) with rat liver dimethylglycine[ncbi.nlm.nih.gov] KCNQ3, CHRNA4, SCN5A, DNAJC5, MFSD8, CACNA2D1, NRXN1, SLC19A2, LARS2, KCNE1, KCNQ1, PEX6, NARS2, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, PKLR, UROS, CLCN2[mendelian.co] It is at least 75.3 kb in length and codes for a protein with a predicted mass of 99,505 Da (including bound FAD). The gene is expressed in... References 1.[link.springer.com]

  • Hyperaldosteronism

    The nude rat (F344-rnu/rnu) bearing ADR-1 showed hyperaldosteronism (serum aldosterone 3320 /-1420 pg/ml; control 191 /-130 pg/ml) and hypokalemia (serum K 3.4 /-0.4 mEq/l[ncbi.nlm.nih.gov] 1 Saga of Familial Hyperaldosteronism: Yet a New Channel. ( 29735637 ) Lenzini L....Rossi G.P. 2018 2 CLCN2 chloride channel mutations in familial hyperaldosteronism type[malacards.org] Namely, the chimeric gene encodes a fused P-450 protein consisting of the amino-terminal side of P-450(11 beta) (encoded by exons 1-4 of CYP11B1) and the carboxyl-terminal[ncbi.nlm.nih.gov]

  • CARASIL

    Ran-s. rat. rham-cal. rheum Rhod. RHUS-T. rhus-v. rob. Ruta sabad. sabal sabin. samb-c. samb. sang. sanic. sarr. sars. Sec. sel. senec. SEP.[homeopathyworldcommunity.ning.com] ALDH3A2, ALDH6A1, AMN, AMPD2, ANK3, AP4B1, AP4S1, APOPT1, ARHGAP31, ARHGEF10, ARNT2, ARSA, ASNS, ASPA, ASXL1, AUH, BCAP31, BCS1L, BEST1, BMP4, BRAT1, CARS2, CCDC88A, CHMP2B, CLCN2[genedx.com] This activity requires the integrity of the catalytic site, although it is unclear whether TGF-beta proteins are themselves degraded.[avivasysbio.com]

  • Juvenile Absence Epilepsy

    PURPOSE: To further evaluate the previously shown linkage of absence epilepsy (AE) to 2q36, both in human and WAG/Rij absence rat models, a 160-kb region at 2q36 containing[ncbi.nlm.nih.gov] However, genetic mutations for voltage-gated sodium channels ( CACNB4 gene (2q22-q23)), potassium channels ( CLCN2 gene (3q27.1)), and EFHC1 (6p12.3) may be involved in a[orpha.net] […] coding regions and splice junctions revealed only two silent polymorphisms (A522C and C1173T) out of the five SNPs present in public databases and no mutations affecting protein[ncbi.nlm.nih.gov]

  • Alexander Disease

    Nickel induction of Rosenthal fibers in rat brain.[ajnr.org] ALDH3A2, ALDH6A1, AMN, AMPD2, ANK3, AP4B1, AP4S1, APOPT1, ARHGAP31, ARHGEF10, ARNT2, ARSA, ASNS, ASPA, ASXL1, AUH, BCAP31, BCS1L, BEST1, BMP4, BRAT1, CARS2, CCDC88A, CHMP2B, CLCN2[genedx.com] The topological analysis of human protein interaction network strategy to identify highly interconnected sub-network modules from which six proteins are found i.e.[ncbi.nlm.nih.gov]

  • Gangliosidosis

    Pharmacological modification of the serotonergic transmitter system and ß-N-acetylhexosaminidase activity in rats. Life Sciences , 67: 2369-2374. [ Links ] 33.[scielo.br] ALDH3A2, ALDH6A1, AMN, AMPD2, ANK3, AP4B1, AP4S1, APOPT1, ARHGAP31, ARHGEF10, ARNT2, ARSA, ASNS, ASPA, ASXL1, AUH, BCAP31, BCS1L, BEST1, BMP4, BRAT1, CARS2, CCDC88A, CHMP2B, CLCN2[genedx.com] Abstract GM2 gangliosidosis, AB variant, is a very rare form of GM2 gangliosidosis due to a deficiency of GM2 activator protein.[ncbi.nlm.nih.gov]

  • Spondylometaphyseal Dysplasia

    Homologs have been identified in the following species: Mouse, Rat, Arabidopsis, Frog, Chicken.[biocompare.com] KCNQ3, CHRNA4, SCN5A, DNAJC5, MFSD8, CACNA2D1, NRXN1, SLC19A2, LARS2, KCNE1, KCNQ1, PEX6, NARS2, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, PKLR, UROS, CLCN2[mendelian.co] […] as well as a structural protein in mature spermatozoa.[creativebiomart.net]