2000
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
Pusch C, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, Scharfe C, Maurer J, Jacobi F, Pinckers A, Andreasson S, Hardcastle A, Wissinger B, Berger W, Meindl A. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Nature Genetics 2000, 26: 324-327. PMID: 11062472, DOI: 10.1038/81627.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid MotifsAmino Acid SequenceBrainChromosome MappingDNA Mutational AnalysisDNA, ComplementaryElectroretinographyEye ProteinsFemaleGene Expression ProfilingGenesGenetic HeterogeneityGenetic MarkersGlycosylphosphatidylinositolsHumansKidneyLeucineMaleModels, MolecularMolecular Sequence DataMultigene FamilyMuscle ProteinsMusclesNerve Tissue ProteinsNight BlindnessOrgan SpecificityPedigreeProtein ConformationProteoglycansRepetitive Sequences, Amino AcidRetinaReverse Transcriptase Polymerase Chain ReactionSequence DeletionSequence Homology, Amino AcidTestisX ChromosomeConceptsLeucine-rich repeatsLeucine-rich repeat proteinFuture functional analysisProtein-protein interactionsCell-cell contactProximal short armCongenital stationary night blindnessGenetic mappingNew genesX chromosome2Repeat proteinsExtracellular proteinsLinkage intervalFunctional analysisStationary night blindnessDifferent lociShort armCell adhesionAmino acidsGenesCSNB1 locusProteinDifferent mutationsLociMutation analysis
1998
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD) Caused by Mutations in a Novel Gene (Wolframin) Coding for a Predicted Transmembrane Protein
Strom T, Hörtnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz K, Meitinger T. Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD) Caused by Mutations in a Novel Gene (Wolframin) Coding for a Predicted Transmembrane Protein. Human Molecular Genetics 1998, 7: 2021-2028. PMID: 9817917, DOI: 10.1093/hmg/7.13.2021.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAmino Acid SequenceAnimalsChildChromosomes, Human, Pair 4DNAExonsFamily HealthFemaleGenesGenetic MarkersHumansIntronsMaleMembrane ProteinsMiceMolecular Sequence DataMutationPedigreePhysical Chromosome MappingPolymorphism, Single-Stranded ConformationalSequence AlignmentSequence Analysis, DNASequence Homology, Amino AcidWolfram SyndromeConceptsOptic atrophyWolfram syndrome patientsJuvenile diabetes mellitusWolfram syndrome familiesAutosomal recessive disorderMitochondrial DNA deletionsDiabetes mellitusPeripheral neuropathyNeurological symptomsDiabetes insipidusPsychiatric illnessSyndrome patientsWolfram syndromeHeterozygous carriersRecessive disorderSyndrome familiesAffected individualsMellitusPatientsAtrophyInsipidusFunction mutationsDeafnessDNA deletionsTransmembrane protein