Search Results - "Stohr, H."

cDNA Cloning, Genomic Structure, and Chromosomal Localization of Three Members of the Human Fatty Acid Desaturase Family by Marquardt, Andreas, Stöhr, Heidi, White, Karen, Weber, Bernhard H.F.

“…The insertion of double bonds into specific positions of fatty acids is achieved by the action of distinct desaturase enzymes. Here we report the cloning and…”
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A Comprehensive Survey of Sequence Variation in the ABCA4 ( ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration by Rivera, Andrea, White, Karen, Stöhr, Heidi, Steiner, Klaus, Hemmrich, Nadine, Grimm, Timo, Jurklies, Bernhard, Lorenz, Birgit, Scholl, Hendrik P.N., Apfelstedt-Sylla, Eckhart, Weber, Bernhard H.F.

“…Stargardt disease (STGD) is a common autosomal recessive maculopathy of early and young-adult onset and is caused by alterations in the gene encoding the…”
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Mutations in a Novel Gene, VMD2; Encoding a Protein of Unknown Properties Cause Juvenile-Onset Vitelliform Macular Dystrophy (Best's Disease) by Marquardt, Andreas, Stöhr, Heidi, Passmore, Lori A., Krämer, Franziska, Rivera, Andrea, Weber, Bernhard H. F.

“…Vitelliform macular dystrophy (Best's disease) is an autosomal dominant, early-onset form of macular degeneration in which the primary defect is thought to…”
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Cloning and characterization of the murine Vmd2 RFP-TM gene family by Krämer, F, Stöhr, H, Weber, B H F

“…Mutations in the human vitelliform macular dystrophy type 2 (VMD2) gene are known to cause autosomal dominant Best macular dystrophy (BMD), a degenerative…”
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Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy by Weber, Bernhard H. F, Vogt, Gudrun, Pruett, Ronald C, Stöhr, Heidi, Felbor, Ute

“…The hereditary macular dystrophies are progressive degenerations of the central retina and contribute significantly to irreversible visual loss in developed…”
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A novel gene encoding a putative transmembrane protein with two extracellular CUB domains and a low-density lipoprotein class A module: isolation of alternatively spliced isoforms in retina and brain by Stöhr, Heidi, Berger, Claudia, Fröhlich, Susanne, Weber, Bernhard H.F.

“…We report herein the cDNA cloning of a novel retina and brain specific gene from mouse and human encoding a putative transmembrane protein with an N-terminal…”
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Pupillary response to percutaneous auricular vagus nerve stimulation in alcohol withdrawal syndrome: A pilot trial by Treiber, M.C., Grünberger, J., Vyssoki, B., Szeles, J.C., Kaniusas, E., Kampusch, S., Stöhr, H., Walter, H., Lesch, O.M., König, D., Kraus, C.

“…Autonomic symptoms in alcohol withdrawal syndrome (AWS) are associated with a sympathetic-driven imbalance of the autonomic nervous system. To restore…”
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Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration by Sauer, Christian G, White, Karen, Stöhr, Heidi, Grimm, Tiemo, Hutchinson, Amy, Bernstein, Paul S, Lewis, Richard Allan, Simonelli, Francesca, Pauleikhoff, Daniel, Allikmets, Rando, Weber, Bernhard H F

“…BACKGROUND A long term project was initiated to identify and to characterise genes that are expressed exclusively or preferentially in the retina as candidates…”
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Standing Up with Denervated Muscles in Humans Using Functional Electrical Stimulation by Kern, H, Hofer, C, Strohhofer, M, Mayr, W, Richter, W, Stöhr, H

“…The use of electrical stimulation for denervated muscles is still considered to be a controversial issue by many rehabilitation facilities and medical…”
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EST mining of the UniGene dataset to identify retina-specific genes by Stöhr, H, Mah, N, Schulz, H L, Gehrig, A, Fröhlich, S, Weber, B H

“…Age-related macular degeneration (AMD) is a multifactorial disorder affecting the visual system with a high prevalence among the elderly population but with no…”
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Cloning and Characterization of the Human Retina-Specific Gene MPP4, a Novel Member of the p55 Subfamily of MAGUK Proteins by Stöhr, Heidi, Weber, Bernhard H.F.

“…To identify novel retina-specific genes systematically, we are performing expression profiling of retina ESTs that have been assembled in the human UniGene…”
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cDNA cloning and genomic structure of a novel gene (C11orf9) localized to chromosome 11q12-->q13.1 which encodes a highly conserved, potential membrane-associated protein by Stöhr, H, Marquardt, A, White, K, Weber, B H

“…We have cloned and characterized a novel gene (C11orf9) mapping to chromosome 11q12-->q13.1. The transcript was initially identified as a partial cDNA sequence…”
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A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features by Felbor, U, Stöhr, H, Amann, T, Schönherr, U, Weber, B H

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Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides by Sangermano, Riccardo, Garanto, Alejandro, Khan, Mubeen, Runhart, Esmee H., Bauwens, Miriam, Bax, Nathalie M., van den Born, L. Ingeborgh, Khan, Muhammad Imran, Cornelis, Stéphanie S., Verheij, Joke B. G. M., Pott, Jan-Willem R., Thiadens, Alberta A. H. J., Klaver, Caroline C. W., Puech, Bernard, Meunier, Isabelle, Naessens, Sarah, Arno, Gavin, Fakin, Ana, Carss, Keren J., Raymond, F. Lucy, Webster, Andrew R., Dhaenens, Claire-Marie, Stöhr, Heidi, Grassmann, Felix, Weber, Bernhard H. F., Hoyng, Carel B., De Baere, Elfride, Albert, Silvia, Collin, Rob W. J., Cremers, Frans P. M.

“…Purpose Using exome sequencing, the underlying variants in many persons with autosomal recessive diseases remain undetected. We explored autosomal recessive…”
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Receptor test (pupillary dilatation after application of 0.01% tropicamide solution) and determination of central nervous activation (Fourier analysis of pupillary oscillations) in patients with Alzheimer's disease by Grünberger, J, Linzmayer, L, Walter, H, Rainer, M, Masching, A, Pezawas, L, Saletu-Zyhlarz, G, Stöhr, H, Grünberger, M

“…Memory loss and severe cognitive deficits in Alzheimer patients are supposed to be related to a reduction of acetylcholine as well as to central nervous…”
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Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease by Khan, Mubeen, Cornelis, Stéphanie S., Khan, Muhammad Imran, Elmelik, Duaa, Manders, Eline, Bakker, Sem, Derks, Ronny, Neveling, Kornelia, Vorst, Maartje, Gilissen, Christian, Meunier, Isabelle, Defoort, Sabine, Puech, Bernard, Devos, Aurore, Schulz, Heidi L., Stöhr, Heidi, Grassmann, Felix, Weber, Bernhard H. F., Dhaenens, Claire‐Marie, Cremers, Frans P. M.

“…Purpose Stargardt disease (STGD1) is caused by biallelic mutations in ABCA4, but many patients are genetically unsolved due to insensitive mutation‐scanning…”
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A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1 by Stöhr, H, Marquardt, A, Rivera, A, Cooper, P R, Nowak, N J, Shows, T B, Gerhard, D S, Weber, B H

“…Best's vitelliform macular dystrophy is an autosomal dominant disorder of unknown causes. To identify the underlying gene defect the disease locus has been…”
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A protease isolated from human plasma activating factor VII independent of tissue factor by Römisch, J, Feussner, A, Vermöhlen, S, Stöhr, H A

“…An activity detected in a prothrombin complex concentrate, termed 'thrombin-like' due to its amidolytic properties, was recently reported by another working…”
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A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy by Felbor, U, Stöhr, H, Amann, T, Schönherr, U, Apfelstedt-Sylla, E, Weber, B H

“…Sorsby's fundus dystrophy (SFD) is a rare autosomal dominant macular disorder with age of onset usually in the fourth decade. It is characterised by loss of…”
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Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP3) by Stöhr, H, Roomp, K, Felbor, U, Weber, B H

“…The tissue inhibitors of metalloproteinases (TIMPs) play a crucial role in the physiological turnover of the extracellular matrix (ECM) by tightly regulating…”
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