Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness

By Martin Patricia E.M.   L. Coleman Sharon   Casalotti Stefano O.   Forge Andy   Evans W. Howard  

Human Molecular Genetics, Vol. 8, Iss. 13, 1999-12 ,pp. : 2369-2376

Oxford University Press

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Novel mutations in the connexin43 () and pseudogene may contribute to nonsyndromic hearing loss

By Hong Hui-Mei   Yang Jiann-Jou   Shieh Jia-Ching   Li Mei-Ling   Li Shuan-Yow  

Human Genetics, Vol. 127, Iss. 5, 2010-05 ,pp. : 545-551

Springer Publishing Company

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The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice

By Schtz Melanie   Scimemi Pietro   Majumder Paromita   De Siati Romolo Daniele   Crispino Giulia   Rodriguez Laura   Bortolozzi Mario   Santarelli Rosamaria   Seydel Anke   Sonntag Stephan   Ingham Neil   Steel Karen P.   Willecke Klaus   Mammano Fabio  

Human Molecular Genetics, Vol. 19, Iss. 24, 2010-12 ,pp. : 4759-4773

Oxford University Press

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Loss of the imprinted snoRNA mbii-52 leads to increased 5htr2c pre-RNA editing and altered 5HT 2C R-mediated behaviour

By Doe Christine M.   Relkovic Dinko   Garfield Alastair S.   Dalley Jeffrey W.   Theobald David E.H.   Humby Trevor   Wilkinson Lawrence S.   Isles Anthony R.  

Human Molecular Genetics, Vol. 18, Iss. 12, 2009-06 ,pp. : 2140-2148

Oxford University Press

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Erratum to: Novel mutations in the connexin43 () and pseudogene may contribute to nonsyndromic hearing loss

By Hong Hui-Mei   Yang Jiann-Jou   Shieh Jia-Ching   Lin Mei-Ling   Li Shuan-Yow  

Human Genetics, Vol. 127, Iss. 5, 2010-05 ,pp. : 553-553

Springer Publishing Company

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