0000000001040504

AUTHOR

Florian Lang

showing 4 related works from this author

Differential cystine and dibasic amino acid handling after loss of function of the amino acid transporter b0,+ AT (Slc7a9) in mice

2013

Cystinuria is an autosomal recessive disease caused by mutations in SLC3A1 ( rBAT) and SLC7A9 ( b 0,+ AT). Gene targeting of the catalytic subunit ( Slc7a9) in mice leads to excessive excretion of cystine, lysine, arginine, and ornithine. Here, we studied this non-type I cystinuria mouse model using gene expression analysis, Western blotting, clearance, and brush-border membrane vesicle (BBMV) uptake experiments to further characterize the renal and intestinal consequences of losing Slc7a9 function. The electrogenic and BBMV flux studies in the intestine suggested that arginine and ornithine are transported via other routes apart from system b0,+. No remarkable gene expression changes were…

Malemedicine.medical_specialtyPeptide transporterArgininePhysiologyLysineCystineSLC7A9BiologyKidneyGFRMicechemistry.chemical_compoundInternal medicinemedicineAnimalsAmino acid transporterMice Knockoutchemistry.chemical_classificationKidneyCystinuriaAmino Acids DiaminoCystinuriaOrnithinemedicine.diseaseAmino acidMice Inbred C57BLDisease Models Animalmedicine.anatomical_structureEndocrinologychemistryBiochemistryAmino Acid Transport Systems BasicCystineGlomerular Filtration Rate
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Maternal eNOS deficiency determines a fatty liver phenotype of the offspring in a sex dependent manner

2016

ABSTRACT Maternal environmental factors can impact on the phenotype of the offspring via the induction of epigenetic adaptive mechanisms. The advanced fetal programming hypothesis proposes that maternal genetic variants may influence the offspring's phenotype indirectly via epigenetic modification, despite the absence of a primary genetic defect. To test this hypothesis, heterozygous female eNOS knockout mice and wild type mice were bred with male wild type mice. We then assessed the impact of maternal eNOS deficiency on the liver phenotype of wild type offspring. Birth weight of male wild type offspring born to female heterozygous eNOS knockout mice was reduced compared to offspring of wil…

0301 basic medicineMaleCancer Researchmedicine.medical_specialtyHeterozygoteNitric Oxide Synthase Type IIIOffspringBiology03 medical and health sciencesGenomic ImprintingMiceSex FactorsEnosInternal medicineFetal programmingmedicineAnimalsEpigeneticsMolecular BiologyGeneFatty liverWild typeHeterozygote advantageDNA Methylationmedicine.diseasebiology.organism_classificationFatty LiverMice Inbred C57BL030104 developmental biologyEndocrinologyPhenotypeKnockout mouseeNOSCarbohydrate MetabolismFemaleEpigeneticsInstitut für ErnährungswissenschaftmetabolismResearch Paper
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Deficient membrane integration of the novel p.N14D-GJB2mutant associated with non-syndromic hearing impairment

2006

Mutations in GJB2, the gene encoding for the Gap Junction protein Connexin 26 (Cx26), have been established as the major cause of hereditary, non-syndromic hearing impairment (HI). We report here the identification of a novel point mutation in GJB2, c.40A>G [p.N14D], detected in compound heterozygosity with the c.35delG mutation in two brothers with moderate non-syndromic sensorineural HI. The mother who carried one wildtype and a p.N14D allele displayed normal hearing. The mutation leads to substitution of the neutral amino acid asparagine (N) by the negatively charged aspartic acid (D) at amino acid number 14, a position that is conserved among Cx26 of different organisms and among many o…

MaleDNA Mutational AnalysisMutantGene ExpressionConnexinIn Vitro TechniquesBiologymedicine.disease_causeCompound heterozygosityConnexinsXenopus laevisAspartic acidotorhinolaryngologic diseasesGeneticsmedicineAnimalsHumansCloning MolecularChildHearing LossGenetics (clinical)chemistry.chemical_classificationMutationPoint mutationCell MembraneWild typeGap JunctionsMolecular biologyPedigreeAmino acidConnexin 26Protein TransportchemistryChild PreschoolAntigens SurfaceMutationOocytesHuman Mutation
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Maternal eNOS deficiency determines a fatty liver phenotype of the offspring in a sex dependent manner

2016

Maternal environmental factors can impact on the phenotype of the offspring via the induction of epigenetic adaptive mechanisms. The advanced fetal programming hypothesis proposes that maternal genetic variants may influence the offspring's phenotype indirectly via epigenetic modification, despite the absence of a primary genetic defect. To test this hypothesis, heterozygous female eNOS knockout mice and wild type mice were bred with male wild type mice. We then assessed the impact of maternal eNOS deficiency on the liver phenotype of wild type offspring. Birth weight of male wild type offspring born to female heterozygous eNOS knockout mice was reduced compared to offspring of wild type mi…

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