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649 Possible Causes for AMN, human, protein

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  • Endocrine Dysfunction

    […] to elucidate the mechanisms underlying the role of stress in human psychopathology and endocrine dysfunction.[] The MD1003 – Biotin European AMN Trial is a study of ultra-high dose biotin in patients with ALD.[] This concerns especially the situation where the presence of M-protein is limited and the serum protein electrophoresis (sPEP) appears normal.[]

  • Progeria

    Register Progeria: a human-disease model of accelerated aging - 24 Hours access EUR 36.00 GBP 28.00 USD 45.00 Rental This article is also available for rental through DeepDyve[] […] alpha-methylacyl-CoA racemase AMELX : amelogenin X-linked AMER1 : APC membrane recruitment protein 1 AMH : anti-Mullerian hormone AMHR2 : anti-Mullerian hormone receptor type 2 AMN[] This concept led to the hypothesis that protein farnesyltransferase inhibitors (FTIs) might ameliorate the disease phenotypes of progeria in mouse models.[]

  • Neuronal Ceroid Lipofuscinosis

    Other mammalian ortholog(s) used D. melanogaster Gene Information (1) Comments on ortholog(s) High-scoring ortholog of human CLN3 (1 Drosophila to 1 human).[] ALDH6A1 ALDH7A1 ALDOA ALDOB ALG1 ALG10 ALG11 ALG12 ALG13 ALG14 ALG2 ALG3 ALG6 ALG8 ALG9 ALK ALMS1 ALOX12B ALOXE3 ALPL ALS2 ALX1 ALX3 ALX4 AMACR AMELX AMER1 AMH AMHR2 AMMECR1 AMN[] To gain insight into the function of CLN8 protein, we employed the split-ubiquitin membrane-based yeast two-hybrid (MYTH) system, which detects protein-protein interactions[]

  • Methylmalonic Aciduria Type cblA

    Product Name methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), ELISA Kit Also Known As Human Methylmalonic aciduria type A protein, mitochondrial, MMAA ELISA[] MTHFR, MMACHC, AMN, MTR, MTRR, ACSF3, SUCLA2, PCCB, PCCA, MMADHC, LMBRD1, TCN2, CUBN, GIF, MCEE, MMAB, MMAA, MUT, SUCLG1, CBS , (...)[] About a third confer instability to the recombinant protein in bacterial and human expression systems.[]

  • Yersinia Pseudotuberculosis

    The wild-type IP32953 strain of Y. pseudotuberculosis was found to be resistant to killing by human neutrophils.[] Author Contributions Conceived and designed the experiments: PD AMN. Performed the experiments: AMN BW AKH. Analyzed the data: AMN AKH JR MB PD.[] Ail can functionally recruit the regulator of the classical and lectin pathways of complement, C4b-binding protein.[]

  • Contiguous ABCD1 DXS1357E Deletion Syndrome (CADDS)

    "BCAP31" Related Products Recombinant Human BCAP31, GST-tagged Cat.No.: BCAP31-10163H Product Overview: Recombinant Human BCAP31 protein, fused to GST-tag, was expressed in[] ). 1.370 FT /FTId VAR_000049. 1.371 FT VARIANT 254 254 T - P (in X-ALD; AMN-type). 1.372 FT /FTId VAR_000050. 1.373 FT VARIANT 263 263 P - L (in X-ALD; CALD, AMN and AD- 1.374[] […] example, MHC class I protein binding, protein binding, protein complex binding.[]

  • Pelizaeus-Merzbacher Disease

    This fascinating reference explores the scientific and human aspects of this complex field of science.[] Sulfatide storage Autosomal recessive Globoid cell leukodystrophy Oligodendroglia/SC Lysosomal storage GALC deficiency Galactocerebroside storage Autosomal recessive XALD/AMN[] Abstract Pelizaeus-Merzbacher disease (PMD) is a rare X-linked leukodystrophy caused by proteolipid protein 1 (PLP1) gene mutations.[]

  • Alexander Disease

    […] few dogs, a rare condition that in humans has been shown to be caused by dominant mutations in the GFAP gene.[] Forms and Documents Test Details Genes: AARS, AARS2, ABAT, ABCD1, ACADS, ACER3, ACOX1, ACY1, ADAR, ADGRG1, ADSL, AHDC1, AIMP1, ALDH3A2, ALDH6A1, AMN, AMPD2, ANK3, AP4B1, AP4S1[] The topological analysis of human protein interaction network strategy to identify highly interconnected sub-network modules from which six proteins are found i.e.[]

  • Neonatal Adrenoleukodystrophy

    At least 15 PEX genes have been identified in humans.[] What is the prognosis and life expectancy of a man with AMN? It depends on the type of AMN that he has.[] Repository NIGMS Human Genetic Cell Repository Subcollection Heritable Diseases Class Disorders of Steroid Metabolism Cell Type Fibroblast Transformant Untransformed Race[]

  • X-Linked Sideroblastic Anemia and Ataxia

    […] mild or no antecedent trauma, deep-muscle hematomas, prolonged bleeding after injuries 1:4,000 to 1:5,000 for HEMA 1/20,000 for HEMB9 Onset at all ages Megaloblastic anemia AMN[] In contrast, the expression of mutated ABC7 (E433K) or Atm1p (D398K) proteins in Deltaatm1 cells led to a low efficiency of cytosolic Fe/S protein maturation.[] Iron Physiology and Pathophysiology in Humans is an excellent new text as well as the most authoritative resource in the field.[]