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7,406 Possible Causes for 1, L1,, Aldehyde, dehydrogenase, family, human, member

  • Sjogren-Larsson Syndrome

    Sphingosine 1-phosphate (S1P) functions not only as a bioactive lipid molecule, but also as an important intermediate of the sole sphingolipid-to-glycerolipid metabolic pathway[ncbi.nlm.nih.gov] FALDH reverses the deleterious action of oxidative stress induced by lipid peroxidation product 4-hydroxynonenal on insulin signaling in 3T3-L1 adipocytes.[pediatricneurosciences.com] View Full Text AAN Members: Sign in with your AAN member credentials (e-mail or 6-digit Member ID number) Non-AAN Member subscribers: Sign in with subscriber credentials Log[n.neurology.org] Toxicity of long-chain aldehydes for FALDH-deficient cells decreased almost to the level of unaffected keratinocytes.[ncbi.nlm.nih.gov] Studies of mutations in SLS should prove useful for understanding structure-function correlations in FALDH and other aldehyde dehydrogenase proteins.[ncbi.nlm.nih.gov] Using this detection system both disease-causing mutations were found in eight of the nine SLS families examined (17/18 chromosomes).[ncbi.nlm.nih.gov] Cooper , Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes , Human Mutation , 30 , 10 , (1435-1448) , (2009) .[doi.org]

  • Aldehyde

    Positive reactions were obtained with 1% cinnamic aldehyde in 15 out of 16 patients tested.[ncbi.nlm.nih.gov] Abstract The aldehyde dehydrogenase family 1 member A3 (ALDH1A3) catalyzes the oxidation of retinal to the pleiotropic factor retinoic acid using NAD .[ncbi.nlm.nih.gov] Some aldehydes are substrates for aldehyde dehydrogenase enzymes which metabolize aldehydes in the body.[en.wikipedia.org] These enzymes include alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH), which play a significant role in the metabolism of many biological substances and exist[ncbi.nlm.nih.gov] KEYWORDS: Activity; Human salivary aldehyde dehydrogenase; Stability; Storage[ncbi.nlm.nih.gov] Saliva concentrations of aldehyde dehydrogenase 1 were measured by ELISA.[ncbi.nlm.nih.gov] Abstract Aldehyde dehydrogenase 2 (ALDH2), one of 19 ALDH superfamily members, catalyzes the NAD -dependent oxidation of aldehydes to their respective carboxylic acids.[ncbi.nlm.nih.gov]

    Missing: L1
  • Xanthinuria

    We performed an allopurinol loading test and diagnosed classical type 1 xanthinuria.[ncbi.nlm.nih.gov] Abstract Two brothers with hereditary xanthinuria (xanthine oxidase deficiency) and several members of their family were studied.[ncbi.nlm.nih.gov] […] lack aldehyde oxidase activity.[emedicine.com] The duodenal mucosa from the subject had no xanthine dehydrogenase protein while the mRNA level was not reduced.[doi.org] Abstract We have carried out biochemical and clinical studies on a large family in which xanthinuria, xanthine lithiasis, uric acid lithiasis and/or gout were discovered.[ncbi.nlm.nih.gov] Human diseases associated with genetically determined dysfunction of XOR are termed xanthinuria, because of the excretion of xanthine in urine.[ncbi.nlm.nih.gov] School of Medicine; Consulting Staff, Division of Pediatric Nephrology, Medical Director of Pediatric Dialysis Unit, Children's of Alabama Sahar Fathallah-Shaykh, MD is a member[emedicine.medscape.com]

    Missing: L1
  • Osteoporosis

    BACKGROUND: Insulin-like growth factor-1 (IGF-1) plays an important role in the regulation of bone formation and mineralization.[ncbi.nlm.nih.gov] In magnetic resonance imaging (MRI), severe height losses in thoracic (T) 12, L1, and L2 vertebras were detected.[ncbi.nlm.nih.gov] The full article is accessible to AMA members and paid subscribers. If you are an AMA member or have a subscription login to read more or purchase a subscription now.[doi.org] IFNA8, IFNA13, IFNA14, IFNA16, IFNA17, IFNA21 , Interferon α proteins [ 36 ] PIK3C3 Phosphatidylinositol 3-kinase catalytic subunit type 3 [ 36 ] Other pathways ALDH7A1 Aldehyde[doi.org] Thiazolidinediones but not metformin directly inhibit the steroidogenic enzymes P450c17 and 3β-hydroxy-steroid dehydrogenase . J Biol Chem 2001 ; 276: 16767 – 71 .[doi.org] We identified a family with novel WNT1 mutation. The index case, a 6 month old child presented with fractures from early infancy.[ncbi.nlm.nih.gov] Vertebrae from young adult humans and chimpanzees, gorillas, orangutans, and gibbons (T8 vertebrae, n   8-14 per species, male and female, humans: 20-40 years of age) were[ncbi.nlm.nih.gov]

  • Influenza

    IL-1 receptor (IL-1R1).[dx.doi.org] In communicating with Member States, EISN utilises National Focal Points, who are responsible for overseeing interactions between ECDC and individual Member States regarding[ecdc.europa.eu] Infectivity of the virion is easily inactivated by all alcoholic disinfectants, chlorine, aldehydes and temperature above 70 C. Sources www.gov.uk/...[news-medical.net] […] lymphopenia, elevated amino-transaminases, thrombocytopenia, prolonged prothrombin time and activated partial thromboplastin time, increased D-Dimer, increased serum lactate dehydrogenase[ncbi.nlm.nih.gov] The classification of the new virus in a separate genus of the Orthomyxoviridae family is proposed.[doi.org] The rapid evolution of influenza A and B viruses contributes to annual influenza epidemics in humans.[ncbi.nlm.nih.gov] […] lymphopenia, elevated amino‐transaminases, thrombocytopenia, prolonged prothrombin time and activated partial thromboplastin time, increased D‐Dimer, increased serum lactate dehydrogenase[doi.org]

    Missing: L1
  • Hereditary Spastic Paraplegia

    Willkomm L 1, 2 , Heredia R 3 , Hoffmann K 4 , Wang H 1, 2 , Voit T 5 , Hoffman EP 3 , Cirak S 1, 2, 3, 6 .[ncbi.nlm.nih.gov] […] cell adhesion molecule L1 cell adhesion molecule (hydrocephalus, stenosis of aqueduct of sylvius 1, masa (mental retardation, aphasia, shuffling gait and adducted thumbs)[ukgtn.nhs.uk] Finally, we obtained the central nervous system of one of the afflicted members of the Ze family for pathologic study.[dx.doi.org] The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.[ncbi.nlm.nih.gov] Occasionally these concentrations may be low and the diagnosis can be confirmed by measuring activity of the enzyme glutaryl CoA dehydrogenase in cultured fibroblasts.[adc.bmj.com] DNA sequencing showed that he, along with other family members (n 5; mean LDL cholesterol 0.8 mmol/L, apoB 0.31 g/L), were heterozygous for a single nucleotide deletion in[ncbi.nlm.nih.gov] References: GARD:6637 ICD10CM:G11.4 ICD9CM:334.1 MESH:D015419 OMIM:PS303350 SNOMEDCT_US_2018_03_01:39912006 SNOMEDCT_US_2018_03_01:76043009 UMLS_CUI:C0037773 Ontology: Human[zfin.org]

  • Apparent Mineralocorticoid Excess

    […] allo-tetrahydrocortisol compared to tetrahydrocortisone; this pattern of urinary steroid excretion is essential for the diagnosis of the syndrome of apparent mineralocorticoid excess type 1[ncbi.nlm.nih.gov] 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] The steroid profiles of the 7 heterozygotes and 2 other family members studied were completely normal.[ncbi.nlm.nih.gov] Aldosterone synthase (choice A) converts a CH3 group at C18 of the steroid molecule to an aldehyde group, from whence comes the name aldosterone.[valuemd.com] CONVERSION OF CORTISOL TO CORTISONE: 11 beta-Hydroxysteroid dehydrogenase (11 beta-HSD) is a microsomal enzyme complex which, in humans, catalyses the interconversion between[ncbi.nlm.nih.gov] Abstract A mutation in the HSD11B2 gene has been discovered in a consanguineous Iranian family with three sibs suffering from Apparent Mineralocorticoid Excess (AME).[ncbi.nlm.nih.gov] Table 1.[academic.oup.com]

  • Xanthinuria Type 1

    We performed an allopurinol loading test and diagnosed classical type 1 xanthinuria.[ncbi.nlm.nih.gov] Abstract A deficiency of adenine phosphoribosyltransferase (A-PRTase) is described in four members in three generations of one family.[jci.org] […] allopurinol to oxipurinol during an allopurinol loading test for determining the type of classical xanthinuria revealed that the patients had classical type 1 xanthinuria, because aldehyde[ncbi.nlm.nih.gov] Proteolytic conversion of xanthine dehydrogenase from the NAD-dependent type to the O2-dependent type.[link.springer.com] In addition, the coding region of xdh in all the family members was analyzed. As a result, the experiment showed an A to T nonsense mutation at nucleotide position 1264.[armstronggenetics3.wordpress.com] Also covered are chromium, vanadium, nickel, silicon, and arsenic, which have been proposed as being essential for humans in the 2nd half of the last century.[books.google.com] Allopurinol was metabolized to oxypurinol and pyrazinamide to 5-hydroxypyrazinamide in spite of no activity of xanthine oxidase, suggesting that aldehyde oxidase converted[ncbi.nlm.nih.gov]

    Missing: L1
  • Pachyonychia Congenita, Type 2

    PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis.[mendelian.co] […] basic protein structure of a keratin filament consists of an alpha-helical rod that is divided into 4 domains (1A, 1B, 2A, 2B) connected together by nonhelical linkers (L1[emedicine.medscape.com] RESULTS: Direct sequencing of the PCR products revealed a heterozygous 275A-- G mutation in all three affected members.[ncbi.nlm.nih.gov] […] in flexures; pruritus MR, spastic di/paraplegia, scissor gait, speech difficulties “Glistening dot” retinal degeneration Sjogren-Larsson Syndrome AR with defect in fatty aldehyde[cram.com] Knochen, Zystenbalg und Zystenflüssigkeit auf ihren Gehalt an Propicillin untersucht. en The activity of the enzymes alkaline phosphatase, acid phosphatase, lactic acid dehydrogenase[de.glosbe.com] In this report, we describe a novel germline mutation in K17, M88T, in a family with PC-2.[ncbi.nlm.nih.gov] Irwin McLean; A Mutation in Human Keratin K6b Produces a Phenocopy of the K17 Disorder Pachyonychia Congenita Type 2, Human Molecular Genetics , Volume 7, Issue 7, 1 July[academic.oup.com]

  • Dihydropyrimidine Dehydrogenase Deficiency

    Last updated: 2/1/2019 DPD deficiency may be diagnosed in various ways.[rarediseases.info.nih.gov] […] entre los 0 y 10 días. en Materials and methods: Fibroblast preadipocyte adipogenesis was carried out using Rosiglitazona, incubating murine 3T3-L1 cells in the presence[glosbe.com] A 165-bp deletion spanning a complete exon of the DPYD gene was found in some members of the pedigree having low DPD catalytic activity.[ncbi.nlm.nih.gov] Tetrahydrofolic acid Water Zinc (II) ion βine Highlight Proteins 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial 5-aminolevulinate synthase, nonspecific, mitochondrial Aldehyde[smpdb.ca] Dihydropyrimidine dehydrogenase deficiency (disorder) Dihydrouracil Dehydrogenase deficiency familial pyrimidinaemia thymine-uracilurea Dihydropyrimidine dehydrogenase deficiency[wikidata.org] Severe neurotoxicity due to 5-fluorouracil (FUra) has previously been described in a patient with familial pyrimidinemia.[ncbi.nlm.nih.gov] […] identified two variant alleles reported previously as being associated with DPD enzyme deficiency [T85C resulting in a C29R substitution (DPYD*9A) and A496G (M166V) in a family member[ncbi.nlm.nih.gov]

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