Bo Chang

Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene (2008)

Chang, Bo, Mandal, Md Nawajes A., Chavali, Venkata R.M., Hawes, Norman L., Khan, Naheed W., Hurd, Ronald E., ...

We observed that a naturally occurring mouse strain developed age-related retinal degeneration (arrd2). These mice had normal fundi, electroretinograms (ERGs) and retinal histology at 6 months of...

A model for familial exudative vitreoretinopathy caused by LPR5 mutations (2008)

Xia, Chun-Hong, Liu, Haiquan, Cheung, Debra, Wang, Meng, Cheng, Catherine, Du, Xin, ...

We have identified a mouse recessive mutation that leads to attenuated and hyperpermeable retinal vessels, recapitulating some pathological features of familial exudative vitreoretinopathy (FEVR) in...

An in-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse (2006)

Chang, Bo, Khanna, Hemant, Hawes, Norman, Jimeno, David, He, Shirley, Lillo, Concepcion, ...

Centrosome- and cilia-associated proteins play crucial roles in establishing polarity and regulating intracellular transport in post-mitotic cells. Using genetic mapping and positional candidate...

Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans (2005)

Zheng, Qing Yin, Yan, Denise, Ouyang, Xiao Mei, Du, Li Lin, Yu, Heping, Chang, Bo, ...

Mutations in genes coding for cadherin 23 and protocadherin 15 cause deafness in both mice and humans. Here, we provide evidence that mutations at these two cadherin loci can interact to cause...

Digenic inheritance of deafness caused by mutations in the genes encoding cadherin 23 and protocadherin 15 in mice and humans (2004)

Zheng, Qing Yin, Yan, Denise, Ouyang, Xiao Mei, Du, Li Lin, Yu, Heping, Chang, Bo, ...

Mutations in the genes coding for cadherin 23 and protocadherin 15 cause deafness in both mice and humans. Here we provide evidence that mutations at these two cadherin loci can interact to cause...

Digenic inheritance of deafness caused by mutations in the genes encoding cadherin 23 and protocadherin 15 in mice and humans (2004)

Zheng, Qing Yin, Yan, Denise, Ouyang, Xiao Mei, Du, Li Lin, Yu, Heping, Chang, Bo, ...

Mutations in the genes coding for cadherin 23 and protocadherin 15 cause deafness in both mice and humans. Here we provide evidence that mutations at these two cadherin loci can interact to cause...

CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina (2003)

Mehalow, Adrienne K., Kameya, Shuhei, Smith, Richard S., Hawes, Norman L., Denegre, James M., Young, James A., ...

Mutations within the CRB1 gene have been shown to cause human retinal diseases including retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA). We have recently identified a mouse model,...

Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene (2003)

Johnson, Kenneth R., Gagnon, Leona H., Webb, Lisa S., Peters, Luanne L., Hawes, Norman L., Chang, Bo, ...

We mapped two new recessive mutations causing circling behavior and deafness to the same region on Chromosome 7 and showed they are allelic by complementation analysis. One was named "deaf circler"...

Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene (2003)

Johnson, Kenneth R., Gagnon, Leona H., Webb, Lisa S., Peters, Luanne L., Hawes, Norman L., Chang, Bo, ...

We mapped two new recessive mutations causing circling behavior and deafness to the same region on chromosome 7 and showed they are allelic by complementation analysis. One was named ‘deaf...

CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina (2003)

Mehalow, Adrienne K., Kameya, Shuhei, Smith, Richard S., Hawes, Norman L., Denegre, James M., Young, James A., ...

Mutations within the CRB1 gene have been shown to cause human retinal diseases including retinitis pigmentosa and Leber congenital amaurosis. We have recently identified a mouse model, retinal...

CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina (2003)

Mehalow, Adrienne K., Kameya, Shuhei, Smith, Richard S., Hawes, Norman L., Denegre, James M., Young, James A., ...

Mutations within the CRB1 gene have been shown to cause human retinal diseases including retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA). We have recently identified a mouse model,...

Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene (2003)

Johnson, Kenneth R., Gagnon, Leona H., Webb, Lisa S., Peters, Luanne L., Hawes, Norman L., Chang, Bo, ...

We mapped two new recessive mutations causing circling behavior and deafness to the same region on Chromosome 7 and showed they are allelic by complementation analysis. One was named "deaf circler"...

A Gja8 (Cx50) point mutation causes an alteration of {alpha}3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice (2002)

Chang, Bo, Wang, Xin, Hawes, Norman L., Ojakian, Ryan, Davisson, Muriel T., Lo, Woo-Kuen, ...

Mutations of connexin α8 (GJA8 or Cx50) and connexin α3 (GJA3 or Cx46) in humans have been reported to cause cataracts with semi-dominant inheritance patterns. Targeted null mutations in Gja8 and...

Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6 (2002)

Kameya, Shuhei, Hawes, Norman L., Chang, Bo, Heckenlively, John R., Naggert, Jürgen K., Nishina, Patsy M.

The autosomal recessive mouse mutation retinal degeneration 6 (rd6) causes small, white retinal spots and progressive photoreceptor degeneration similar to that observed in human flecked retinal...

Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure (2001)

Chang, Bo, Smith, Richard S, Peters, Maureen, Savinova, Olga V, Hawes, Norman L, Zabaleta, Adriana, ...

Abstract Background Glaucoma is a blinding disease usually associated with high intraocular pressure (IOP). In some families, abnormal anterior segment development contributes to glaucoma. The genes...

Genetic modification of glaucoma associated phenotypes between AKXD-28/Ty and DBA/2J mice (2001)

Anderson, Michael G, Smith, Richard S, Savinova, Olga V, Hawes, Norman L, Chang, Bo, Zabaleta, Adriana, ...

Abstract Background Glaucoma is a common disease but its molecular etiology is poorly understood. It involves retinal ganglion cell death and optic nerve damage that is often associated with elevated...

The Bst locus on mouse chromosome 16 is associated with age-related subretinal neovascularization

Smith, Richard S., John, Simon W. M., Zabeleta, Adriana, Davisson, Muriel T., Hawes, Norman L., Chang, Bo

Ocular neovascularization is the leading cause of blindness in developed countries and often causes rapid loss of vision in age-related macular degeneration. Acute visual loss is most often due to...

A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse

Akhmedov, Novrouz B., Piriev, Natik I., Chang, Bo, Rapoport, Ana Lia, Hawes, Norman L., Nishina, Patsy M., ...

The rd7 mouse, an animal model for hereditary retinal degeneration, has some characteristics similar to human flecked retinal disorders. Here we report the identification of a deletion in a...

The Bst locus on mouse chromosome 16 is associated with age-related subretinal neovascularization

Smith, Richard S., John, Simon W. M., Zabeleta, Adriana, Davisson, Muriel T., Hawes, Norman L., Chang, Bo

Ocular neovascularization is the leading cause of blindness in developed countries and often causes rapid loss of vision in age-related macular degeneration. Acute visual loss is most often due to...

A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse

Akhmedov, Novrouz B., Piriev, Natik I., Chang, Bo, Rapoport, Ana Lia, Hawes, Norman L., Nishina, Patsy M., ...

The rd7 mouse, an animal model for hereditary retinal degeneration, has some characteristics similar to human flecked retinal disorders. Here we report the identification of a deletion in a...

Allelic variance between GRM6 mutants, Grm6nob3 and Grm6nob4 results in differences in retinal ganglion cell visual responses

Maddox, Dennis M, Vessey, Kirstan A, Yarbrough, Gary L, Invergo, Brandon M, Cantrell, Donald R, Inayat, Samsoon, ...

An electroretinogram (ERG) screen identified a mouse with a normal a-wave but lacking a b-wave, and as such it was designated no b-wave3 (nob3). The nob3 phenotype mapped to chromosome 11 in a region...

Functional interchangeability of rod and cone transducin α-subunits

Deng, Wen-Tao, Sakurai, Keisuke, Liu, Jianwen, Dinculescu, Astra, Li, Jie, Pang, Jijing, ...

Rod and cone photoreceptors use similar but distinct sets of phototransduction proteins to achieve different functional properties, suitable for their role as dim and bright light receptors,...