Search Results - "Naggert, J K"

Alström syndrome is associated with short stature and reduced GH reserve by Romano, S., Maffei, P., Bettini, V., Milan, G., Favaretto, F., Gardiman, M., Marshall, J. D., Greggio, N. A., Pozzan, G. B., Collin, G. B., Naggert, J. K., Bronson, R., Vettor, R.

“…Summary Introduction Alström syndrome (ALMS) is a rare autosomal recessive monogenic disease included in an emerging class of genetic disorders called…”
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Alms1-disrupted mice recapitulate human Alström syndrome by Collin, G B, Cyr, E, Bronson, R, Marshall, J D, Gifford, E J, Hicks, W, Murray, S A, Zheng, Q Y, Smith, R S, Nishina, P M, Naggert, J K

“…Mutations in the human ALMS1 gene cause Alström syndrome (AS), a progressive disease characterized by neurosensory deficits and by metabolic defects including…”
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Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice by HAIDER, Neena B, NAGGERT, Jürgen K, NISHINA, Patsy M

“…The rd7 mouse is a model for hereditary retinal degeneration characterized clinically by retinal spotting throughout the fundus and late onset retinal…”
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Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome by Taşdemir, S, Güzel-Ozantürk, A, Marshall, JD, Collin, GB, Özgül, RK, Narin, N, Dündar, M, Naggert, JK

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Disruption in murine Eml1 perturbs retinal lamination during early development by Collin, G. B., Won, J., Krebs, M. P., Hicks, W. J., Charette, J. R., Naggert, J. K., Nishina, P. M.

“…During mammalian development, establishing functional neural networks in stratified tissues of the mammalian central nervous system depends upon the proper…”
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A candidate gene for the mouse mutation tubby by Noben-Trauth, Konrad, Naggert, Juergen K, North, Michael A, Nishina, Patsy M

“…A mutation in the tub gene causes maturity-onset obesity, insulin resistance, and sensory deficits. In contrast to the rapid juvenile-onset weight gain seen in…”
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Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome by Özgül, RK, Satman, I, Collin, GB, Hinman, EG, Marshall, JD, Kocaman, O, Tütüncü, Y, Yılmaz, T, Naggert, JK

“…Alström syndrome is a rare, autosomal recessive disorder characterized by a wide spectrum of clinical features including early‐onset retinal degeneration…”
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Genetic Modification of Hearing in Tubby Mice: Evidence for the Existence of a Major Gene (moth1) Which Protects Tubby Mice from Hearing Loss by Ikeda, Akihiro, Yin Zheng, Qing, Rosenstiel, Philip, Maddatu, Terry, Zuberi, Aamir R., Roopenian, Derry C., North, Michael A., Naggert, Jürgen K., Johnson, Kenneth R., Nishina, Patsy M.

“…Quantitative trait locus (QTL) analysis of genetic crosses has proven to be a useful tool for identifying loci associated with specific phenotypes and for…”
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Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene by IKEDA, S, SHIVA, N, NAGGERT, J. K, NISHINA, P. M, DUYAO, M. P, IKEDA, A, SMITH, R. S, NUSINOWITZ, S, YAN, G, LIN, T. R, CHU, S, HECKENLIVELY, J. R, NORTH, M. A

“…The tub gene is a member of a small, well conserved neuronal gene family of unknown function. Mutations within this gene lead to early-onset blindness and…”
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Degeneration and plasticity of the optic pathway in Alström syndrome by Manara, R, Citton, V, Maffei, P, Marshall, J D, Naggert, J K, Milan, G, Vettor, R, Baglione, A, Vitale, A, Briani, C, Di Salle, F, Favaro, A

“…Alström syndrome is a rare inherited ciliopathy in which early progressive cone-rod dystrophy leads to childhood blindness. We investigated functional and…”
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Effects of dietary fats from animal and plant sources on diet-induced fatty streak lesions in C57BL/6J mice by Nishina, P.M, Lowe, S, Verstuyft, J, Naggert, J.K, Kuypers, F.A, Paigen, B

“…This study was designed to determine the effects of a variety of naturally occurring saturated fats on aortic lesion formation in C57BL/6J mice that are…”
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Linkage of Atherogenic Lipoprotein Phenotype to the Low Density Lipoprotein Receptor Locus on the Short Arm of Chromosome 19 by Nishina, Patsy M., Johnson, John P., Naggert, Jurgen K., Krauss, Ronald M.

“…The atherogenic lipoprotein phenotype (ALP) is a common heritable trait characterized by a predominance of small, dense low density lipoprotein (LDL) particles…”
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Cell-Specific Expression of Tubby Gene Family Members (tub, Tulp1, 2, and 3) in the Retina by Ikeda, Sakae, He, Wei, Ikeda, Akihiro, Naggert, Jurgen K, North, Michael A, Nishina, Patsy M

“…The family of tubby-like proteins (TULPs), consisting of four family members, are all expressed in-the retina at varying levels. Mutations within two members,…”
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Molecular Characterization of a Novel Tubby Gene Family Member,TULP3,in Mouse and Humans by Nishina, Patsy M., North, Michael A., Ikeda, Akihiro, Yan, Yingzhuo, Naggert, Juergen K.

“…Tubby and related proteins are derived from a small family of novel genes. The carboxytermini of this family are highly conserved across a number of species…”
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CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina by Mehalow, Adrienne K., Kameya, Shuhei, Smith, Richard S., Hawes, Norman L., Denegre, James M., Young, James A., Bechtold, Lesley, Haider, Neena B., Tepass, Ulrich, Heckenlively, John R., Chang, Bo, Naggert, Jürgen K., Nishina, Patsy M.

“…Mutations within the CRB1 gene have been shown to cause human retinal diseases including retinitis pigmentosa and Leber congenital amaurosis. We have recently…”
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Alström syndrome : further evidence for linkage to human chromosome 2p13 by COLLIN, G. B, MARSHALL, J. D, BOERKOEL, C. F, LEVIN, A. V, WEKSBERG, R, GREENBERG, J, MICHAUD, J. L, NAGGERT, J. K, NISHINA, P. M

“…Alström syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, early-onset obesity, and…”
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Atherosclerosis in genetically obese mice: the mutants obese, diabetes, fat, tubby, and lethal yellow by Nishina, P M, Naggert, J K, Verstuyft, J, Paigen, B

“…Mice with five different mutations conferring an obese or diabetic phenotype were evaluated for fatty streak lesions after consuming an atherogenic diet…”
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Genomic analysis of the C57BL/Ks mouse strain by Naggert, J K, Mu, J L, Frankel, W, Bailey, D W, Paigen, B

“…We present evidence that C57BL/KsJ (BKs) arose through a genetic contamination of a black mouse strain. The majority of alleles in BKs are shared with C57BL/6J…”
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Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzyme activity by Naggert, J.K, Ericker, L.D, Varlomov, O, Nishina, P.M, Rouille, Y, Steiner, D.F, Carroll, R.J, Paigen, B.J, Leiter, E.H

“…Mice homozygous for the fat mutation develop obesity and hyperglycaemia that can be suppressed by treatment with exogenous insulin. The fat mutation maps to…”
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Human DCTN1 : Genomic structure and evaluation as a candidate for Alström syndrome by COLLIN, G. B, NISHINA, P. M, MARSHALL, J. D, NAGGERT, J. K

“…The human dynactin 1 gene (DCTN1) is positioned on chromosome 2p13, the candidate region for various diseases including Alström syndrome, limb-girdle muscle…”
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