A mutation in CFTR produces different phenotypes depending on chromosomal background

Sandra Kiesewetter, Milan Maçek, Claire Davis, +13

Nature Genetics

Genetic DisorderGeneticsChromosomal BackgroundGenetic MechanismMolecular Genetics +5

Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)

Beth Coyle, William Reardon, Jo-Anne Herbrick, +11

Human Molecular Genetics

Mendelian DisorderDisease MechanismGenetic DisorderGeneticsInherited Metabolic Disease +12

The spectrum of cystic fibrosis mutations

L.‐C. Tsui

Trends in Genetics

Cystic Fibrosis MutationsFibrosisMendelian DisorderGenetic DisorderMedicine +4

Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly

Erich Roessler, Elena Belloni, Karin Gaudenz, +4

Human Molecular Genetics

Knockout MouseCholesterol ModificationDevelopmental BiologyGenetic DisorderGenetics +10

Lung disease in mice with cystic fibrosis.

Geraldine Kent, Ray K. Iles, Christine E. Bear, +10

Journal of Clinical Investigation

InflammationKnockout MouseFibrosisMolecular PhysiologyInflammatory Lung Disease +13

An everted repeat mediates retinoic acid induction of the gamma F-crystallin gene: evidence of a direct role for retinoids in lens development.

M Tini, Gail Otulakowski, Martin L. Breitman, +2

Genes & Development

Ocular DiseaseRetinoic AcidOptogeneticsLens DevelopmentRetina +15

Phosphatase inhibitors activate normal and defective CFTR chloride channels.

Frédéric Becq, Thomas Jensen, X.B. Chang, +6

Proceedings of the National Academy of Sciences

Cellular PhysiologyMolecular PharmacologyCftr Chloride ChannelsSignaling PathwayMembrane Transport +17

cAMP-inducible chloride conductance in mouse fibroblast lines stably expressing the human cystic fibrosis transmembrane conductance regulator.

Johanna M. Rommens, Sascha E. Dho, Christine E. Bear, +5

Proceedings of the National Academy of Sciences

CytoskeletonCellular PhysiologyCamp-inducible Chloride ConductanceMembrane TransportCell Signaling +16

Higher Proportion of Intact Exon 9 CFTR mRNA in Nasal Epithelium Compared with Vas Deferens

Victor Mak, Keith Jarvi, Julian Zielenski, +2

Human Molecular Genetics

Molecular Diagnostic TechniquesClassical Cystic FibrosisAllergyInflammatory Lung DiseaseExon 9 +12

A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family.

Nicolette H. Lubsen, J. H. Renwick, L.‐C. Tsui, +2

Proceedings of the National Academy of Sciences

Ocular DiseaseOphthalmologyFamily MembersGamma-crystallin Gene FamilyGenetics +9