Search Results - "Naggert, JK"

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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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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The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey by Ozantürk, Ayşegül, Marshall, Jan D, Collin, Gayle B, Düzenli, Selma, Marshall, Robert P, Candan, Şükrü, Tos, Tülay, Esen, İhsan, Taşkesen, Mustafa, Çayır, Atilla, Öztürk, Şükrü, Üstün, İhsan, Ataman, Esra, Karaca, Emin, Özdemir, Taha Reşid, Erol, İlknur, Eroğlu, Fehime Kara, Torun, Deniz, Parıltay, Erhan, Yılmaz-Güleç, Elif, Karaca, Ender, Atabek, M Emre, Elçioğlu, Nursel, Satman, İlhan, Möller, Claes, Muller, Jean, Naggert, Jürgen K, Özgül, Rıza Köksal

“…Alström syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss,…”
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Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome by Naggert, Jürgen K, Collin, Gayle B, Marshall, Jan D, Ikeda, Akihiro, So, W. Venus, Russell-Eggitt, Isabelle, Maffei, Pietro, Beck, Sebastian, Boerkoel, Cornelius F, Sicolo, Nicola, Martin, Mitchell, Nishina, Patsy M

“…Alström syndrome is a homogeneous autosomal recessive disorder that is characterized by childhood obesity associated with hyperinsulinemia, chronic…”
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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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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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Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases by Lee, Yongsuk, Kameya, Shuhei, Cox, Gregory A, Hsu, Jennifer, Hicks, Wanda, Maddatu, Terry P, Smith, Richard S, Naggert, Jürgen K, Peachey, Neal S, Nishina, Patsy M

“…Here we demonstrate previously unreported ocular defects in mice homozygous for a new allele of the Large gene, veils, and for Large(myd) mice. Clinically,…”
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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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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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The tubby-like proteins, a family with roles in neuronal development and function by Ikeda, Akihiro, Nishina, Patsy M, Naggert, Jürgen K

“…The identification of a mutation at the tubby (Tub) locus, which causes obesity and neurosensory degeneration, led to the discovery of the tubby-like proteins…”
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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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Genetic Analysis of a New Mouse Model for Non-Insulin-Dependent Diabetes by Kim, Jung Han, Sen, Śaunak, Avery, Cindy S., Simpson, Elizabeth, Chandler, Phillip, Nishina, Patsy M., Churchill, Gary A., Naggert, Jürgen K.

“…The TallyHo (TH) mouse strain is a newly established model for non-insulin-dependent diabetes mellitus(NIDDM). TH mice show obesity, hyperinsulinemia,…”
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Neural tube defects and neuroepithelial cell death in Tulp3 knockout mice by Ikeda, A, Ikeda, S, Gridley, T, Nishina, P M, Naggert, J K

“…The tubby-like protein 3 (Tulp3) gene has been identified as a member of a small novel gene family which is primarily neuronally expressed. Mutations in two of…”
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Microtubule-associated protein 1A is a modifier of tubby hearing ( moth1 ) by Nishina, Patsy M, Ikeda, Akihiro, Zheng, Qing Yin, Zuberi, Aamir R, Johnson, Kenneth R, Naggert, Jürgen K

“…Once a mutation in the gene tub was identified as the cause of obesity, retinal degeneration and hearing loss in tubby mice, it became increasingly evident…”
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Type 2 diabetes mouse model TallyHo carries an obesity gene on chromosome 6 that exaggerates dietary obesity by Kim, Jung Han, Stewart, Taryn P, Zhang, Weidong, Kim, Hyoung Yon, Nishina, Patsy M, Naggert, Jurgen K

“…1 Department of Nutrition, The University of Tennessee, Knoxville, Tennessee 2 The Jackson Laboratory, Bar Harbor, Maine The TallyHo (TH) mouse strain is a…”
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Novel leptin receptor mutation in NOD/LtJ mice suppresses type 1 diabetes progression. I. Pathophysiological analysis by LEE, Chul-Ho, REIFSNYDER, Peter C, NAGGERT, Jiirgen K, WASSERFALL, Clive, ATKINSON, Mark A, JING CHEN, LEITER, Edward H

“…A spontaneous single-base mutation in the leptin receptor of type 1 diabetes-prone NOD/LtJ mice (designated as Lepr(db-5J)) produced a glycine640valine…”
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Genetic modifiers of vision and hearing by Haider, Neena B., Ikeda, Akihiro, Naggert, Jürgen K., Nishina, Patsy M.

“…The identification of ‘disease genes’ and the mutations within them has greatly enhanced our understanding of normal function in the eye and ear. At the same…”
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Genetic modifiers interact with Cpe(fat) to affect body weight, adiposity, and hyperglycemia by Collin, Gayle B, Maddatu, Terry P, Sen, Saunak, Naggert, Jürgen K

“…Obesity and Type II diabetes are complex diseases in the human population. The existence of a large number of contributing loci and gene-gene as well as…”
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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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Molecular Characterization of TUB, TULP1, and TULP2, Members of the Novel Tubby Gene Family and their Possible Relation to Ocular Diseases by North, Michael A., Naggert, Juergen K., Yan, Yingzhuo, Noben-Trauth, Konrad, Nishina, Patsy M.

“…Tubby, an autosomal recessive mutation, mapping to mouse chromosome 7, was recently found to be the result of a splicing defect in a novel gene with unknown…”
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