about
Mottled Mice and Non-Mammalian Models of Menkes DiseasePrenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC)Crystal structure of a copper-transporting PIB-type ATPaseCopper-transporting P-type ATPases use a unique ion-release pathwayCharacterization of the hCTR1 gene: genomic organization, functional expression, and identification of a highly homologous processed geneX-linked recessive Menkes disease: identification of partial gene deletions in affected males.Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assays.Splice site mutations in the ATP7A gene.The RihA, RihB, and RihC ribonucleoside hydrolases of Escherichia coli. Substrate specificity, gene expression, and regulation.Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.Mutation Detection in the Menkes Gene ATP7A Using the Protein Truncation Test.Clinical presentation and mutations in Danish patients with Wilson disease.Exon duplications in the ATP7A gene: frequency and transcriptional behaviour.Clinical expression of Menkes disease in females with normal karyotype.Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.Impairment of interrelated iron- and copper homeostatic mechanisms in brain contributes to the pathogenesis of neurodegenerative disorders.Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency.Partial USH2A deletions contribute to Usher syndrome in Denmark.Metal-Dependent Regulation of ATP7A and ATP7B in Fibroblast Cultures.Usher syndrome in Denmark: mutation spectrum and some clinical observationsAn innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsMolecular diagnosis of Menkes disease: genotype-phenotype correlation.The urokinase receptor and regulation of cell surface plasminogen activation.Small amounts of functional ATP7A protein permit mild phenotype.Clinical utility gene card for: Phenylketonuria.Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes diseaseAberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-convergence on axonal guidance.Partial USH2A deletions contribute to Usher syndrome in Denmark.Multi-stringency wash of partially hybridized 60-mer probes reveals that the stringency along the probe decreases with distance from the microarray surface.Structural models of the human copper P-type ATPases ATP7A and ATP7B.Biopterin responsive phenylalanine hydroxylase deficiency.Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family.Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex.Anxiety- and depression-like phenotype of hph-1 mice deficient in tetrahydrobiopterin.TSC1 and TSC2 regulate cilia length and canonical Hedgehog signaling via different mechanisms.
P50
Q26770905-472AF969-82CD-4352-A44F-A7A777A0D953Q27335017-2C138BDE-7F87-4BB9-8E26-B31EDAA7FC04Q27670612-39803EA2-41CA-47EA-9220-7187124F7A43Q27680830-B967D111-534E-4256-A46C-F0CC37D05807Q28142419-7376EBBA-2DE0-465B-9B49-E07A71C83364Q30332321-CC65ED05-BE84-4C20-9343-712E1A7D9CBEQ30581669-D30BA34E-05C9-4BA7-A697-820629DCDC25Q33857183-741636FB-D94A-49D7-B866-5AAABE52B88FQ33873402-51304F16-F998-4A53-AFFD-C90193024867Q33921049-F7B5218B-68DC-4F5D-AD07-2FBA43CC3D69Q34246902-D56C4194-490F-4800-BF00-55111C2A4A2EQ35015725-A35EFA49-EC71-4F7F-BD53-D4063E3F5557Q35176467-A9F71301-0E51-47CB-99A8-86344D8B47D6Q35230120-FC853CC3-F1A3-4041-BEE9-2D366BB04EA1Q35619280-A883B1AE-9D57-485F-8B4C-0CD93AAD6326Q35818473-38191755-F1AA-4948-A867-A9FB51F4F00DQ36103413-1CA1068E-3C38-4090-9CC3-BE8B9C069A0EQ36226255-7C323162-507A-4FDB-8B20-3F6DE1C3BAE2Q36275015-9859EAC8-594E-4E47-B71C-5793C1AB560BQ36590998-627C5954-A111-4E07-994B-F3B5EDA499BEQ36695773-F8E1A6CF-DFB3-4863-BE45-8A15EE4EF8C0Q37184361-8B72E895-DD78-4553-BC49-7D927E55A6B3Q37257107-D0B41D1D-97E7-4E1E-B39E-315D842889E9Q37426932-497B7557-65E0-4245-930F-34BC2DDD5753Q37509970-2BEC21EF-A37D-485E-93F8-C4F8CED61B5CQ37573846-CF94570C-97E2-4532-BDE9-2635202D3590Q38244721-B47D18BA-EBF8-448A-9626-CC4E2179A3E2Q40491970-D9897E21-066A-402A-A8CA-CB7D80500D8AQ42189067-51AFFADF-D613-4007-97ED-666FD3AF5D98Q42775825-93824EF4-FF3E-488B-9BE3-B0097B6958E0Q42949947-1ED3D6D4-0851-4C82-BE0C-659D2283AA27Q43243460-2198F5FE-3AF9-4198-86BA-D0EBCAD2AE3BQ43964432-40792C30-CCB3-45C8-AC98-94E5494476EAQ44730873-64ECE457-4289-4396-9276-5B173AFFAB66Q46497906-8AB6743B-1CEE-421F-A41F-443AC5B6881FQ46602067-9811DD9B-8B11-460F-9550-01D8C48FBBBBQ46623160-6E2ADC4A-8FD3-47AF-94FD-432A00E85E29Q46715014-E56FC187-8DB9-4746-9A24-FEA2521B5252Q47815633-41A909BD-B6D6-4310-8FD9-8726315884B6Q48041985-F5DEF55C-1CAD-44A3-ABD8-19F71A35A04C
P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Lisbeth Birk Møller
@ast
Lisbeth Birk Møller
@en
Lisbeth Birk Møller
@es
Lisbeth Birk Møller
@nl
Lisbeth Birk Møller
@sl
type
label
Lisbeth Birk Møller
@ast
Lisbeth Birk Møller
@en
Lisbeth Birk Møller
@es
Lisbeth Birk Møller
@nl
Lisbeth Birk Møller
@sl
prefLabel
Lisbeth Birk Møller
@ast
Lisbeth Birk Møller
@en
Lisbeth Birk Møller
@es
Lisbeth Birk Møller
@nl
Lisbeth Birk Møller
@sl
P106
P21
P31
P496
0000-0002-9524-4301