Characterization of an Abundant COL9A1 Transcript in the Cochlea with a Novel 3′ UTR: Expression Studies and Detection of miRNA Target Sequence

Por Sivakumaran, Theru A., Resendes, Barbara L., Robertson, Nahid G., Giersch, Anne B.S., Morton, Cynthia C.
Publicado em 2006

Hearing and vestibular deficits in the Coch(−/−) null mouse model: comparison to the Coch(G88E/G88E) mouse and to DFNA9 hearing and balance disorder

Por Jones, Sherri M., Robertson, Nahid G., Given, Shelly, Giersch, Anne B. S., Liberman, M. Charles, Morton, Cynthia C.
Publicado em 2010

Gene Discovery in the Auditory System: Characterization of Additional Cochlear-Expressed Sequences

Por Resendes, Barbara L., Robertson, Nahid G., Szustakowski, Joseph D., Resendes, Robert J., Weng, Zhiping, Morton, Cynthia C.
Publicado em 2001

Histopathology of the Human Inner Ear in the p.L114P COCH Mutation (DFNA9)

Por Burgess, Barbara J., O’Malley, Jennifer T., Kamakura, Takefumi, Kristiansen, Kris, Robertson, Nahid G., Morton, Cynthia C., Nadol, Joseph B.
Publicado no Audiol Neurootol (2016)

Cochlin in Normal Middle Ear and Abnormal Middle Ear Deposits in DFNA9 and Coch(G88E/G88E) Mice

Por Robertson, Nahid G., O’Malley, Jennifer T., Ong, Cheng Ai, Giersch, Anne B.S., Shen, Jun, Stankovic, Konstantina M., Morton, Cynthia C.
Publicado no J Assoc Res Otolaryngol (2014)

Isolation from Cochlea of a Novel Human Intronless Gene with Predominant Fetal Expression

Por Resendes, Barbara L., Kuo, Sharon F., Robertson, Nahid G., Giersch, Anne B. S., Honrubia, Dynio, Ohara, Osamu, Adams, Joe C., Morton, Cynthia C.
Publicado em 2004

Proteomics Reveal Cochlin Deposits Associated with Glaucomatous Trabecular Meshwork

Por Bhattacharya, Sanjoy K., Rockwood, Edward J., Smith, Scott D., Bonilha, Vera L., Crabb, John S., Kuchtey, Rachel W., Robertson, Nahid G., Peachey, Neal S., Morton, Cynthia C., Crabb, John W.
Publicado em 2004

Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and...

Por Bae, Seung-Hyun, Robertson, Nahid G., Cho, Hyun-Ju, Morton, Cynthia C., Jung, Da Jung, Baek, Jeong-In, Choi, Soo-Young, Lee, Jaetae, Lee, Kyu-Yup, Kim, Un-Kyung
Publicado no Hum Mutat (2014)

A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction

Por Robertson, Nahid G., Jones, Sherri M., Sivakumaran, Theru A., Giersch, Anne B.S., Jurado, Sara A., Call, Linda M., Miller, Constance E., Maison, Stéphane F., Liberman, M. Charles, Morton, Cynthia C.
Publicado em 2008

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain

Por Cho, Hyun-Ju, Park, Hong-Joon, Trexler, Maria, Venselaar, Hanka, Lee, Kyu Yup, Robertson, Nahid G., Baek, Jeong-In, Kang, Beom Sik, Morton, Cynthia C., Vriend, Gert, Patthy, László, Kim, Un-Kyung
Publicado no J Mol Med (Berl) (2012)