ABCA4 disease progression and a proposed strategy for gene therapy (2009)
Cideciyan, Artur V., Swider, Malgorzata, Aleman, Tomas S., Tsybovsky, Yaroslav, Schwartz, Sharon B., Windsor, Elizabeth A.M., ...
Autosomal recessive retinal diseases caused by mutations in the ABCA4 gene are being considered for gene replacement therapy. All individuals with ABCA4-disease show macular degeneration, but only...
Identifying Candidate Disease Genes with High-Performance Computing (2008)
Terry A. Braun, Todd E. Scheetz, Gregg Webster, Abe Clark, Edwin M. Stone, Val C. Sheffield, ...
Abstract. The publicly-funded effort to read the complete nucleotide sequence of the human genome, the human genome project (HGP), is nearing completion of the approximately three billion nucleotides...
GenoMap: A Distributed System for Unifying Genotyping and Genetic Linkage Analysis (2007)
Todd E. Scheetz, Terry A. Braun, Thomas L. Casavant, Kyle J. Munn, Edwin M. Stone, Val C. Sheffield
This paper describes GenoMap, an integrated, parallel/distributed computing software system that aids in large-scale gene identification studies. This problem requires data from heterogeneous,...
The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice (2007)
Fu, Li, Garland, Donita, Yang, Zhenglin, Shukla, Dhananjay, Rajendran, Anand, Pearson, Erik, ...
Age-related macular degeneration (AMD) is the most common cause of vision loss in developed countries. A defining characteristic of this disorder is the accumulation of material between Bruch's...
Shepard, Allan R., Jacobson, Nasreen, Millar, J. Cameron, Pang, Iok-Hou, Steely, H. Thomas, Searby, Charles C., ...
Glaucoma is a leading cause of worldwide irreversible visual impairment and blindness and is a clinically and genetically heterogenous group of optic neuropathies. Specific mutations in the myocilin...
Human cone photoreceptor dependence on RPE65 isomerase. (2007)
Jacobson, Samuel G., Aleman, Tomas S., Cideciyan, Artur V., Heon, Elise, Golczak, Marcin, Beltran, William A., ...
The visual (retinoid) cycle, the enzymatic pathway that regenerates chromophore after light absorption, is located primarily in the retinal pigment epithelium (RPE) and is essential for rod...
Shepard, Allan R., Jacobson, Nasreen, Millar, J. Cameron, Pang, Iok-Hou, Steely, H. Thomas, Searby, Charles C., ...
Glaucoma is a leading cause of worldwide irreversible visual impairment and blindness and is a clinically and genetically heterogenous group of optic neuropathies. Specific mutations in the myocilin...
Yen, Hsan-Jan, Tayeh, Marwan K., Mullins, Robert F., Stone, Edwin M., Sheffield, Val C., Slusarski, Diane C.
Bardet-Biedl syndrome (BBS) is characterized by obesity, retinopathy, polydactyly, cognitive impairment, renal and cardiac anomalies as well as hypertension and diabetes. The nine known BBS genes do...
Yen, Hsan-Jan, Tayeh, Marwan K., Mullins, Robert F., Stone, Edwin M., Sheffield, Val C., Slusarski, Diane C.
Bardet–Biedl syndrome (BBS) is characterized by obesity, retinopathy, polydactyly, cognitive impairment, renal and cardiac anomalies as well as hypertension and diabetes. The nine known BBS genes...
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome (2005)
Fath, Melissa A., Mullins, Robert F., Searby, Charles, Nishimura, Darryl Y., Wei, Jun, Rahmouni, Kamal, ...
McKusick–Kaufman syndrome (MKS) is an autosomal recessive disorder characterized by post-axial polydactyly, congenital heart defects and hydrometrocolpos, a congenital structural abnormality of...
Mkks-null mice have a phenotype resembling Bardet-Biedl Syndrome (2005)
Fath, Melissa A., Mullins, Robert F., Searby, Charles, Nishimura, Darryl Y., Wei, Jun, Rahmouni, Kamal, ...
McKusick-Kaufman syndrome (MKS) is an autosomal recessive disorder characterized by post-axial polydactyly, congenital heart defects, and hydrometrocolpos, a congenital structural abnormality of...
Missense variations in the fibulin 5 gene and age-related macular degeneration (2004)
Stone, Edwin M., Braun, Terry A., Russell, Stephen R., Kuehn, Markus H., Lotery, Andrew J., Moore, Paula A., ...
Background: Age-related macular degeneration (AMD) is the most common cause of irreversible vision loss in the developed world. The study of a rare mendelian form of macular degeneration implicated...
Cideciyan, Artur V., Aleman, Tomas S., Swider, Malgorzata, Schwartz, Sharon B., Steinberg, Janet D., Brucker, Alexander J., ...
Mutations in ABCA4, which encodes a photoreceptor specific ATP-binding cassette transporter (ABCR), cause autosomal recessive forms of human blindness due to retinal degeneration (RD) including...
QRX, a Novel Homeobox Gene, Modulates Photoreceptor Gene Expression (2004)
Wang, Qing-liang, Chen, Shiming, Esumi, Noriko, Swain, Prabodh K., Haines, Heidi S., Peng, Guanghua, ...
A novel paired-like homeobox gene, designated as Qrx, was identified by a yeast one-hybrid screen using the bovine Rhodopsin promoter Ret-1 DNA regulatory element as bait. Qrx is preferentially...
Jacobson, Samuel G., Sumaroka, Alexander, Aleman, Tomas S., Cideciyan, Artur V., Schwartz, Sharon B., Roman, Alejandro J., ...
Mutations in the nuclear receptor gene, NR2E3, cause a disorder of human retinal photoreceptor development characterized by hyperfunction and excess of the minority S (short wavelength or blue) cone...
Cideciyan, Artur V., Aleman, Tomas S., Swider, Malgorzata, Schwartz, Sharon B., Steinberg, Janet D., Brucker, Alexander J., ...
Mutations in ABCA4, which encodes a photoreceptor specific ATP-binding cassette transporter (ABCR), cause autosomal recessive forms of human blindness due to retinal degeneration (RD) including...
QRX, a novel homeobox gene, modulates photoreceptor gene expression (2004)
Wang, Qing-liang, Chen, Shiming, Esumi, Noriko, Swain, Prabodh K., Haines, Heidi S., Peng, Guanghua, ...
A novel paired-like homeobox gene, designated as Qrx, was identified by a yeast one-hybrid screen using the bovine Rhodopsin promoter Ret-1 DNA regulatory element as bait. Qrx is preferentially...
Jacobson, Samuel G., Sumaroka, Alexander, Aleman, Tomas S., Cideciyan, Artur V., Schwartz, Sharon B., Roman, Alejandro J., ...
Mutations in the nuclear receptor gene, NR2E3, cause a disorder of human retinal photoreceptor development characterized by hyperfunction and excess of the minority S (short wavelength or blue) cone...
Cideciyan, Artur V., Aleman, Tomas S., Swider, Malgorzata, Schwartz, Sharon B., Steinberg, Janet D., Brucker, Alexander J., ...
Mutations in ABCA4, which encodes a photoreceptor specific ATP-binding cassette transporter (ABCR), cause autosomal recessive forms of human blindness due to retinal degeneration (RD) including...
QRX, a Novel Homeobox Gene, Modulates Photoreceptor Gene Expression (2004)
Wang, Qing-liang, Chen, Shiming, Esumi, Noriko, Swain, Prabodh K., Haines, Heidi S., Peng, Guanghua, ...
A novel paired-like homeobox gene, designated as Qrx, was identified by a yeast one-hybrid screen using the bovine Rhodopsin promoter Ret-1 DNA regulatory element as bait. Qrx is preferentially...
Jacobson, Samuel G., Sumaroka, Alexander, Aleman, Tomas S., Cideciyan, Artur V., Schwartz, Sharon B., Roman, Alejandro J., ...
Mutations in the nuclear receptor gene, NR2E3, cause a disorder of human retinal photoreceptor development characterized by hyperfunction and excess of the minority S (short wavelength or blue) cone...
Shepard, Allan R, Jacobson, Nasreen, Sui, Ruifang, Steely, H Thomas, Lotery, Andrew J, Stone, Edwin M, ...
Abstract Background Mutations in the gene encoding human myocilin ( MYOC ) have been shown to cause juvenile- and adult-onset glaucoma. In addition, myocilin has been associated with...
Lotery, Andrew J., Yang, Grace S., Mullins, Robert F., Russell, Stephen R., Schmidt, Michael, Stone, Edwin M., ...
Gene transfer using adeno-associated viruses (AAVs) has been effective for treating inherited retinal diseases in animal models. Further evaluation in primates must be performed prior to clinical...
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination (2003)
Jacobson, Samuel G., Cideciyan, Artur V., Aleman, Tomas S., Pianta, Michael J., Sumaroka, Alexander, Schwartz, Sharon B., ...
Mutations in CRB1, the human homolog of Drosophila Crumbs, cause autosomal recessive blinding disorders of the retina. Whereas Crumbs is implicated in apical-basal epithelial polarity and...
Lotery, Andrew J., Derksen, Todd A., Russell, Stephen R., Mullins, Robert F., Sauter, Sybille, Affatigato, Louisa M., ...
We hypothesize that recombinant feline immunodeficiency viral (rFIV) vectors may be useful for gene transfer to the nonhuman primate retina. We performed vitrectomies and subretinal injections in the...
VSX1: A gene for posterior polymorphous dystrophy and keratoconus (2002)
Héon, Elise, Greenberg, Alex, Kopp, Kelly K., Rootman, David, Vincent, Andrea L., Billingsley, Gail, ...
We identified mutations in the VSX1 homeobox gene for two distinct inherited corneal dystrophies; posterior polymorphous dystrophy (PPD) and keratoconus. One of the mutation (R166W) responsible for...
Guymer, Robyn H., Heon, Elise, Lotery, Andrew J., Munier, Francis L., Schorderet, Daniel F., Baird, Paul N., ...
OBJECTIVES: To investigate the role of 2 specific alleles of the Stargardt disease gene (ABCA4) in the pathogenesis of age-related macular degeneration (AMD). Secondary objectives were to investigate...
An analysis of allelic variation in the ABCA4 gene (2001)
Webster, Andrew R., Heon, Elise, Lotery, Andrew J., Vandenburgh, Kimberlie, Casavant, Thomas L., Oh, Kean T., ...
PURPOSE. To assess the allelic variation of the ATP-binding transporter protein (ABCA4). METHODS. A combination of single-strand conformation polymorphism (SSCP) and automated DNA sequencing was used...
Mutations in the CRB1 gene cause Leber congenital amaurosis (2001)
Lotery, Andrew J., Jacobson, Samuel G., Fishman, Gerald A., Weleber, Richard G., Fulton, Anne B., Namperumalsamy, P., ...
OBJECTIVES: To test the hypothesis that mutations in the CRB1 gene cause Leber congenital amaurosis (LCA) and, if so, to describe the ocular phenotype of patients with LCA who harbor CRB1 sequence...
Guymer, Robyn H., Héon, Elise, Lotery, Andrew J., Munier, Francis L., Schorderet, Daniel F., Baird, Paul N., ...
Objectives To investigate the role of 2 specific alleles of the Stargardt disease gene (ABCA4) in the pathogenesis of age-related macular degeneration (AMD). Secondary objectives were to investigate...
An analysis of allelic variation in the ABCA4 gene (2001)
Webster, Andrew R., Héon, Elise, Lotery, Andrew J., Vandenburgh, Kimberlie, Casavant, Thomas L., Oh, Kean T., ...
Purpose: To assess the allelic variation of the ATP-binding transporter protein (ABCA4). Methods: A combination of single-strand conformation polymorphism (SSCP) and automated DNA sequencing was used...
Molecular genetics of age-related macular degeneration (2001)
Stone, Edwin M., Sheffield, Val C., Hageman, Gregory S.
The numerous conditions that clinicians group under the term ‘age-related macular degeneration’ (AMD) are collectively the most common cause of severe visual loss in the developed world....
Jacobson, Nasreen, Andrews, Michael, Shepard, Allan R., Nishimura, Darryl, Searby, Charles, Fingert, John H., ...
Until recently, very little was known about the molecular mechanisms responsible for the development of glaucoma, a leading cause of blindness worldwide. Mutations in the glaucoma gene myocilin...
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2) (2001)
Nishimura, Darryl Y., Searby, Charles C., Carmi, Rivka, Elbedour, Khalil, Van Maldergem, Lionel, Fulton, Anne B., ...
Bardet–Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder with the primary clinical features of obesity, pigmented retinopathy, polydactyly, hypogenitalism, mental...
Biswas, Susmito, Munier, Francis L., Yardley, Jill, Hart-Holden, Niki, Perveen, Rahat, Cousin, Pascal, ...
Corneal clarity is maintained by its endothelium, which functions abnormally in the endothelial dystrophies, leading to corneal opacification. This group of conditions includes Fuchs’ endothelial...
Characterization and Comparison of the Human and Mouse GLC1A Glaucoma Genes (1998)
Fingert, John H., Ying, Lihua, Swiderski, Ruth E., Nystuen, Arne M., Arbour, Nancy C., Alward, Wallace L.M., ...
Linkage of posterior polymorphous corneal dystrophy to 20q11 (1995)
Héon, Elise, Mathers, William D., Alward, L.M.Alward, Weisenthal, Robert W., Sunden, Sara L.F., Fishbaugh, Jill A., ...
Posterior polymorphous dystrophy (PPMD) is an autosomal dominant disorder of the cornea that is clinically recognized by the presence of vesicles on the endothelial surface of the cornea. The corneal...
Brown, David M., Vandenburgh, Kim, Kimura, Alan E., Weingeist, Thomas A., Sheffield, Val C., Stone, Edwin M.
Mutation analysis of the ROM1 gene in retinitis pigmentosa (1995)
Bascom, Roger A., Liu, Lin, Heckenlively, John R., Stone, Edwin M., Mcinnes, Roderick R.
To examine the role of ROM1, a homologue of peripherin/RDS, in autosomal dominant retinitis pigmentosa (adRP), we screened 224 adRP and 29 simplex RP probands for ROM1 mutations. Four ROM1...
Mutation analysis of the ROM1 gene in retinitis pigmentosa (1995)
Bascom, Roger A., Liu, Lin, Heckenlively, John R., Stone, Edwin M., Mclnnes, Roderick R.
The publishers wish to apologise for the misprinting of the nucleotide changes involved in the ROM1 amino acid substitutions presented in the above paper. The correct nucleotide change for each...
Héon, Elise, Sheth, Bhavna P., Kalenak, Jeffrey W., Sunden, Sara L.F., Streb, Luan M., Taylor, Chris M., ...
Iris hypoplasia is an autosomal dominant disorder which is frequently associated with glaucoma. This glaucoma is usually resistant to medical therapy and can lead to blindness. A large family of...
Sheffield, Val C., Carml, Rivka, Kwltek-Black, Anne, Rokhlina, Tatiana, Nishlmura, Darryl, Duyk, Geoffrey M., ...
Bardet-Biedl syndrome is an autosomal recessive disorder characterized by mental retardation, obesity, retinitis plgmentosa, polydactyly and hypogonadism. Individuals with this disorder also have an...
Stone, Edwin M., Kimura, Alan E., Folk, James C., Bennett, Steven R., Nichols, Brian E., Streb, Luan M., ...
Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNTV) is an inherited eye disease characterized by retinal and iris neovascularization, abnormal retinal pigmentation, anterior chamber...
Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man
Cideciyan, Artur V., Hood, Donald C., Huang, Yijun, Banin, Eyal, Li, Zong-Yi, Stone, Edwin M., ...
Mutations in the gene encoding rhodopsin, the visual pigment in rod photoreceptors, lead to retinal degeneration in species from Drosophila to man. The pathogenic sequence from rod cell-specific...
Van Hooser, J. Preston, Aleman, Tomas S., He, Yu-Guang, Cideciyan, Artur V., Kuksa, Vladimir, Pittler, Steven J., ...
Mutations in the retinal pigment epithelium gene encoding RPE65 are a cause of the incurable early-onset recessive human retinal degenerations known as Leber congenital amaurosis. Rpe65-deficient...
Milam, Ann H., Rose, Linda, Cideciyan, Artur V., Barakat, Mark R., Tang, Wai-Xing, Gupta, Nisha, ...
Normal human retinal development involves orderly generation of rods and cones by complex mechanisms. Cell-fate specification involves progenitor cell lineage and external signals such as soluble...
Shepard, Allan R, Jacobson, Nasreen, Sui, Ruifang, Steely, H Thomas, Lotery, Andrew J, Stone, Edwin M, ...
Characterization and Comparison of the Human and Mouse GLC1A Glaucoma Genes
Fingert, John H., Ying, Lihua, Swiderski, Ruth E., Nystuen, Arne M., Arbour, Nancy C., Alward, Wallace L.M., ...
The GLC1A gene (which encodes the protein myocilin) has been associated with the development of primary open angle glaucoma. Bacterial artificial chromosomes containing the human GLC1A gene and its...
Mykytyn, Kirk, Mullins, Robert F., Andrews, Michael, Chiang, Annie P., Swiderski, Ruth E., Yang, Baoli, ...
The functions of the proteins encoded by the Bardet–Biedl syndrome (BBS) genes are unknown. Mutations in these genes lead to the pleiotropic human disorder BBS, which is characterized by obesity,...
Nishimura, Darryl Y., Fath, Melissa, Mullins, Robert F., Searby, Charles, Andrews, Michael, Davis, Roger, ...
Bardet–Biedl syndrome (BBS) is a heterogeneous, pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities,...
Jacobson, Samuel G., Aleman, Tomas S., Cideciyan, Artur V., Sumaroka, Alexander, Schwartz, Sharon B., Windsor, Elizabeth A. M., ...
Mutations in RPE65, a gene essential to normal operation of the visual (retinoid) cycle, cause the childhood blindness known as Leber congenital amaurosis (LCA). Retinal gene therapy restores vision...
Nishimura, Darryl Y., Searby, Charles C., Alward, Wallace L., Walton, David, Craig, Jamie E., Mackey, David A., ...
Mutations in the forkhead transcription–factor gene (FOXC1), have been shown to cause defects of the anterior chamber of the eye that are associated with developmental forms of glaucoma. Discovery...
Pitfalls in Homozygosity Mapping
Miano, Maria G., Jacobson, Samuel G., Carothers, Andrew, Hanson, Isabel, Teague, Peter, Lovell, Jill, ...
There is much interest in use of identity-by-descent (IBD) methods to map genes, both in Mendelian and in complex disorders. Homozygosity mapping provides a rapid means of mapping autosomal recessive...
Sokal, Izabela, Dupps, William J., Grassi, Michael A., Brown, Jeremiah, Affatigato, Louisa M., Roychowdhury, Nirmalya, ...
Finding and interpreting genetic variations that are important to ophthalmologists.
PURPOSE: To explore two approaches for making the human genome more accessible and useful to practicing ophthalmologists. METHODS: DNA samples were obtained from patients with inherited eye diseases,...
Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene
Nishimura, Darryl Y., Swiderski, Ruth E., Searby, Charles C., Berg, Erik M., Ferguson, Amanda L., Hennekam, Raoul, ...
Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations,...
Chiang, Annie P., Beck, John S., Yen, Hsan-Jan, Tayeh, Marwan K., Scheetz, Todd E., Swiderski, Ruth E., ...
The identification of mutations in genes that cause human diseases has largely been accomplished through the use of positional cloning, which relies on linkage mapping. In studies of rare diseases,...
Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man
Cideciyan, Artur V., Hood, Donald C., Huang, Yijun, Banin, Eyal, Li, Zong-Yi, Stone, Edwin M., ...
Mutations in the gene encoding rhodopsin, the visual pigment in rod photoreceptors, lead to retinal degeneration in species from Drosophila to man. The pathogenic sequence from rod cell-specific...
Van Hooser, J. Preston, Aleman, Tomas S., He, Yu-Guang, Cideciyan, Artur V., Kuksa, Vladimir, Pittler, Steven J., ...
Mutations in the retinal pigment epithelium gene encoding RPE65 are a cause of the incurable early-onset recessive human retinal degenerations known as Leber congenital amaurosis. Rpe65-deficient...
Milam, Ann H., Rose, Linda, Cideciyan, Artur V., Barakat, Mark R., Tang, Wai-Xing, Gupta, Nisha, ...
Normal human retinal development involves orderly generation of rods and cones by complex mechanisms. Cell-fate specification involves progenitor cell lineage and external signals such as soluble...
Shepard, Allan R, Jacobson, Nasreen, Sui, Ruifang, Steely, H Thomas, Lotery, Andrew J, Stone, Edwin M, ...
Characterization and Comparison of the Human and Mouse GLC1A Glaucoma Genes
Fingert, John H., Ying, Lihua, Swiderski, Ruth E., Nystuen, Arne M., Arbour, Nancy C., Alward, Wallace L.M., ...
The GLC1A gene (which encodes the protein myocilin) has been associated with the development of primary open angle glaucoma. Bacterial artificial chromosomes containing the human GLC1A gene and its...
Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1)
Mykytyn, Kirk, Nishimura, Darryl Y., Searby, Charles C., Beck, Gretel, Bugge, Kevin, Haines, Heidi L., ...
Bardet-Biedl syndrome (BBS) is a genetic disorder with the primary features of obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. Patients with...
Mykytyn, Kirk, Mullins, Robert F., Andrews, Michael, Chiang, Annie P., Swiderski, Ruth E., Yang, Baoli, ...
The functions of the proteins encoded by the Bardet–Biedl syndrome (BBS) genes are unknown. Mutations in these genes lead to the pleiotropic human disorder BBS, which is characterized by obesity,...
Nishimura, Darryl Y., Fath, Melissa, Mullins, Robert F., Searby, Charles, Andrews, Michael, Davis, Roger, ...
Bardet–Biedl syndrome (BBS) is a heterogeneous, pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities,...
Jacobson, Samuel G., Aleman, Tomas S., Cideciyan, Artur V., Sumaroka, Alexander, Schwartz, Sharon B., Windsor, Elizabeth A. M., ...
Mutations in RPE65, a gene essential to normal operation of the visual (retinoid) cycle, cause the childhood blindness known as Leber congenital amaurosis (LCA). Retinal gene therapy restores vision...
Chiang, Annie P., Nishimura, Darryl, Searby, Charles, Elbedour, Khalil, Carmi, Rivka, Ferguson, Amanda L., ...
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations, learning disabilities, and...
Nishimura, Darryl Y., Searby, Charles C., Alward, Wallace L., Walton, David, Craig, Jamie E., Mackey, David A., ...
Mutations in the forkhead transcription–factor gene (FOXC1), have been shown to cause defects of the anterior chamber of the eye that are associated with developmental forms of glaucoma. Discovery...
Comparative Genomics and Gene Expression Analysis Identifies BBS9, a New Bardet-Biedl Syndrome Gene
Nishimura, Darryl Y., Swiderski, Ruth E., Searby, Charles C., Berg, Erik M., Ferguson, Amanda L., Hennekam, Raoul, ...
Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and cardiac malformations,...
Pitfalls in Homozygosity Mapping
Miano, Maria G., Jacobson, Samuel G., Carothers, Andrew, Hanson, Isabel, Teague, Peter, Lovell, Jill, ...
There is much interest in use of identity-by-descent (IBD) methods to map genes, both in Mendelian and in complex disorders. Homozygosity mapping provides a rapid means of mapping autosomal recessive...
Finding and interpreting genetic variations that are important to ophthalmologists.
PURPOSE: To explore two approaches for making the human genome more accessible and useful to practicing ophthalmologists. METHODS: DNA samples were obtained from patients with inherited eye diseases,...
Chiang, Annie P., Beck, John S., Yen, Hsan-Jan, Tayeh, Marwan K., Scheetz, Todd E., Swiderski, Ruth E., ...
The identification of mutations in genes that cause human diseases has largely been accomplished through the use of positional cloning, which relies on linkage mapping. In studies of rare diseases,...
Regulation of gene expression in the mammalian eye and its relevance to eye disease
Scheetz, Todd E., Kim, Kwang-Youn A., Swiderski, Ruth E., Philp, Alisdair R., Braun, Terry A., Knudtson, Kevin L., ...
We used expression quantitative trait locus mapping in the laboratory rat (Rattus norvegicus) to gain a broad perspective of gene regulation in the mammalian eye and to identify genetic variation...
Cideciyan, Artur V., Aleman, Tomas S., Jacobson, Samuel G., Khanna, Hemant, Sumaroka, Alexander, Aguirre, Geoffrey K., ...
Mutations in the centrosomal-ciliary gene CEP290/NPHP6 are associated with Joubert syndrome and are the most common cause of the childhood recessive blindness known as Leber congenital amaurosis...
Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure
Wang, Wan-Heng, McNatt, Loretta G., Pang, Iok-Hou, Millar, J. Cameron, Hellberg, Peggy E., Hellberg, Mark H., ...
Elevated intraocular pressure (IOP) is the principal risk factor for glaucoma and results from excessive impedance of the fluid outflow from the eye. This abnormality likely originates from outflow...
Human cone photoreceptor dependence on RPE65 isomerase
Jacobson, Samuel G., Aleman, Tomas S., Cideciyan, Artur V., Heon, Elise, Golczak, Marcin, Beltran, William A., ...
The visual (retinoid) cycle, the enzymatic pathway that regenerates chromophore after light absorption, is located primarily in the retinal pigment epithelium (RPE) and is essential for rod...
Davis, Roger E., Swiderski, Ruth E., Rahmouni, Kamal, Nishimura, Darryl Y., Mullins, Robert F., Agassandian, Khristofor, ...
Bardet–Biedl syndrome (BBS) is a genetically heterogeneous disorder that results in retinal degeneration, obesity, cognitive impairment, polydactyly, renal abnormalities, and hypogenitalism. Of the...
Cideciyan, Artur V., Aleman, Tomas S., Boye, Sanford L., Schwartz, Sharon B., Kaushal, Shalesh, Roman, Alejandro J., ...
The RPE65 gene encodes the isomerase of the retinoid cycle, the enzymatic pathway that underlies mammalian vision. Mutations in RPE65 disrupt the retinoid cycle and cause a congenital human blindness...
Meyer, Esther, Rahman, Fatimah, Owens, Jessica, Pasha, Shanaz, Morgan, Neil V., Trembath, Richard C., ...