Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome

Author

EVERETT, Lorraine A¹ ; BELYANTSEVA, Inna A² ; NOBEN-TRAUTH, Konrad³ ; CANTOS, Raquel⁴ ; CHEN, Amy⁵ ; THAKKAR, Sneha I¹ ; HOOGSTRATEN-MILLER, Shelley L⁶ ; KACHAR, Bechara² ; WU, Doris K⁴ ; GREEN, Eric D¹
[1] Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, United States
[2] Laboratory of Cellular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, United States
[3] Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, United States
[4] Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, United States
[5] Embryonic Stem Cell/Transgenic Mouse Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, United States
[6] Office of Laboratory Animal Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, United States

Source

Human molecular genetics (Print). 2001, Vol 10, Num 2, pp 153-161 ; ref : 53 ref

ISSN

0964-6906

Scientific domain

Genetics

Publisher

Oxford University Press, Oxford

Publication country

United Kingdom

Document type

Article

Language

English

Keyword (fr)

Gène Modèle animal Mutation Oreille Pendred syndrome Souris Endocrinopathie Maladie héréditaire Mammalia ORL pathologie Rodentia Thyroïde pathologie Trouble audition Vertebrata

Keyword (en)

Gene Animal model Mutation Ear Pendred syndrome Mouse Endocrinopathy Genetic disease Mammalia ENT disease Rodentia Thyroid diseases Auditory disorder Vertebrata

Keyword (es)

Gen Modelo animal Mutación Oido Pendred síndrome Ratón Endocrinopatía Enfermedad hereditaria Mammalia ORL patología Rodentia Tiroides patología Trastorno auditivo Vertebrata

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes

Discipline

Medical genetics

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

898500

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS