Search Results - "Höhne, Wolfgang"

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis by Moawia, Abubakar, Shaheen, Ranad, Rasool, Sajida, Waseem, Syeda Seema, Ewida, Nour, Budde, Birgit, Kawalia, Amit, Motameny, Susanne, Khan, Kamal, Fatima, Ambrin, Jameel, Muhammad, Ullah, Farid, Akram, Talia, Ali, Zafar, Abdullah, Uzma, Irshad, Saba, Höhne, Wolfgang, Noegel, Angelika Anna, Al‐Owain, Mohammed, Hörtnagel, Konstanze, Stöbe, Petra, Baig, Shahid Mahmood, Nürnberg, Peter, Alkuraya, Fowzan Sami, Hahn, Andreas, Hussain, Muhammad Sajid

“…Objective Autosomal recessive primary microcephaly (MCPH) is a rare condition characterized by a reduced cerebral cortex accompanied with intellectual…”
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A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome by Rutsch, Frank, MacDougall, Mary, Lu, Changming, Buers, Insa, Mamaeva, Olga, Nitschke, Yvonne, Rice, Gillian I., Erlandsen, Heidi, Kehl, Hans Gerd, Thiele, Holger, Nürnberg, Peter, Höhne, Wolfgang, Crow, Yanick J., Feigenbaum, Annette, Hennekam, Raoul C.

“…Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characterized by early and extreme aortic and valvular calcification,…”
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Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene by Engel, Katharina, Höhne, Wolfgang, Häberle, Johannes

“…Citrullinemia type I is an autosomal recessive disorder that is caused by a deficiency of the urea cycle enzyme argininosuccinate synthetase (ASS1). Deficiency…”
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Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6 by Nitschke, Yvonne, Baujat, Geneviève, Botschen, Ulrike, Wittkampf, Tanja, du Moulin, Marcel, Stella, Jacqueline, Le Merrer, Martine, Guest, Geneviève, Lambot, Karen, Tazarourte-Pinturier, Marie-Frederique, Chassaing, Nicolas, Roche, Olivier, Feenstra, Ilse, Loechner, Karen, Deshpande, Charu, Garber, Samuel J., Chikarmane, Rashmi, Steinmann, Beat, Shahinyan, Tatevik, Martorell, Loreto, Davies, Justin, Smith, Wendy E., Kahler, Stephen G., McCulloch, Mignon, Wraige, Elizabeth, Loidi, Lourdes, Höhne, Wolfgang, Martin, Ludovic, Hadj-Rabia, Smaïl, Terkeltaub, Robert, Rutsch, Frank

“…Spontaneous pathologic arterial calcifications in childhood can occur in generalized arterial calcification of infancy (GACI) or in pseudoxanthoma elasticum…”
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Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1 by Stella, Jacqueline, Buers, Insa, van de Wetering, Koen, Höhne, Wolfgang, Rutsch, Frank, Nitschke, Yvonne

“…ABSTRACT Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (E‐NPP1), encoded by ENPP1, is a plasma membrane protein that generates inorganic…”
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Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism by Coelho, David, Kim, Jaeseung C, Miousse, Isabelle R, Fung, Stephen, du Moulin, Marcel, Buers, Insa, Suormala, Terttu, Burda, Patricie, Frapolli, Michele, Stucki, Martin, Nürnberg, Peter, Thiele, Holger, Robenek, Horst, Höhne, Wolfgang, Longo, Nicola, Pasquali, Marzia, Mengel, Eugen, Watkins, David, Shoubridge, Eric A, Majewski, Jacek, Rosenblatt, David S, Fowler, Brian, Rutsch, Frank, Baumgartner, Matthias R

“…Brian Fowler, David Rosenblatt and colleagues show that mutations in the ABC transporter gene ABCD4 cause a new inborn error of vitamin B 12 metabolism. ABCD4…”
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A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family by Khan, Muzammil A, Rupp, Verena M, Orpinell, Meritxell, Hussain, Muhammad S, Altmüller, Janine, Steinmetz, Michel O, Enzinger, Christian, Thiele, Holger, Höhne, Wolfgang, Nürnberg, Gudrun, Baig, Shahid M, Ansar, Muhammad, Nürnberg, Peter, Vincent, John B, Speicher, Michael R, Gönczy, Pierre, Windpassinger, Christian

“…Asymmetric cell division is essential for normal human brain development. Mutations in several genes encoding centrosomal proteins that participate in accurate…”
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Structural Basis for Catalytic Activity and Enzyme Polymerization of Phospholipid Hydroperoxide Glutathione Peroxidase-4 (GPx4) by Scheerer, Patrick, Borchert, Astrid, Krauss, Norbert, Wessner, Helga, Gerth, Christa, Höhne, Wolfgang, Kuhn, Hartmut

“…Phospholipid hydroperoxide glutathione peroxidase (GPx4) is a moonlighting selenoprotein, which has been implicated in anti-oxidative defense, sperm…”
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Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism by Rutsch, Frank, Gailus, Susann, Miousse, Isabelle R, Suormala, Terttu, Sagné, Corinne, Toliat, Mohammad Reza, Nürnberg, Gudrun, Wittkampf, Tanja, Buers, Insa, Sharifi, Azita, Stucki, Martin, Becker, Christian, Baumgartner, Matthias, Robenek, Horst, Marquardt, Thorsten, Höhne, Wolfgang, Gasnier, Bruno, Rosenblatt, David S, Fowler, Brian, Nürnberg, Peter

“…Frank Rutsch and colleagues show that the cblF inborn error of vitamin B 12 metabolism, which is characterized by accumulation of free vitamin B 12 in…”
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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia by Voit, Thomas, Weterman, Marian A J, Krägeloh-Mann, Ingeborg, Stoets, Loes M E, Wollnik, Bernd, Kyllerman, Marten, Becker, Christian, van der Knaap, Marjo S, van Ruissen, Fred, Aronica, Eleonora, T te Beek, Erik, Brockmann, Knut, Basel-Vanagaite, Lina, Battini, Roberta, Grillo, Eugenio, Sztriha, Laszlo, Barth, Peter G, Nürnberg, Peter, Roelens, Filip, Boltshauser, Eugen, Fluiter, Kees, Ferrie, Colin D, Poll-The, Bwee Tien, Nürnberg, Gudrun, Budde, Birgit S, Crow, Yanick J, Brussel, Wim, Beemer, Frits A, Muntoni, Francesco, Steinlin, Maja, Willemsen, Michèl, Toliat, Mohammad Reza, Namavar, Yasmin, Hammersen, Gerhard, de Vries, Linda S, Höhne, Wolfgang, Hennekam, Raoul C M, Baas, Frank

“…Pontocerebellar hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or hypoplasia of the…”
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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa by Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

“…Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) is a very rare autosomal-recessive disorder characterized by a complex phenotype with high…”
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Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification by Rutsch, Frank, Suk, Anita, Ferre, Merry, Höhne, Wolfgang, Knisely, Alex, Hinrichs, Bernd, Lehmann, Mandy, Epplen, Jörg T, Ruf, Nico, Vallance, Hillary, Terkeltaub, Robert, Schnabel, Dirk, Schauer, Galen, Smith, Wendy, Sinaiko, Alan R, Roscioli, Tony, Filippone, Marco, Vaingankar, Sucheta, McGill, James, Toliat, Mohammad R, Superti-Furga, Andrea, Nürnberg, Peter

“…Idiopathic infantile arterial calcification (IIAC; OMIM 208000) is characterized by calcification of the internal elastic lamina of muscular arteries and…”
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Congenital Glutamine Deficiency with Glutamine Synthetase Mutations by Häberle, Johannes, Görg, Boris, Rutsch, Frank, Schmidt, Eva, Toutain, Annick, Benoist, Jean-François, Gelot, Antoinette, Suc, Annie-Laure, Höhne, Wolfgang, Schliess, Freimut, Häussinger, Dieter, Koch, Hans G

“…This report describes two neurologically devastated infants who died as newborns from congenital glutamine synthetase deficiency and profoundly low levels of…”
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Loss of Chondroitin 6-O-Sulfotransferase-1 Function Results in Severe Human Chondrodysplasia with Progressive Spinal Involvement by Thiele, Holger, Sakano, Masahiro, Kitagawa, Hiroshi, Sugahara, Kazuyuki, Rajab, Anna, Höhne, Wolfgang, Ritter, Heide, Leschik, Gundula, Nürnberg, Peter, Mundlos, Stefan, McKusick, Victor A.

“…We studied two large consanguineous families from Oman with a distinct form of spondyloepiphyseal dysplasia (SED Omani type). By using a genome-wide linkage…”
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Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1 by Crisponi, Laura, Crisponi, Giangiorgio, Meloni, Alessandra, Toliat, Mohammad Reza, Nürnberg, Gudrun, Usala, Gianluca, Uda, Manuela, Masala, Marco, Höhne, Wolfgang, Becker, Christian, Marongiu, Mara, Chiappe, Francesca, Kleta, Robert, Rauch, Anita, Wollnik, Bernd, Strasser, Friedrich, Reese, Thomas, Jakobs, Cornelis, Kurlemann, Gerd, Cao, Antonio, Nürnberg, Peter, Rutsch, Frank

“…Crisponi syndrome is a severe autosomal recessive condition that is phenotypically characterized by abnormal, paroxysmal muscular contractions resembling…”
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Heterozygous mutations in ANKH , the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia by Harrop, Karen, Goldblatt, Jack, Cunningham, Michael L, Westermann, Frank, Borochowitz, Zvi U, Thiele, Holger, Leschik, Gundula, Höhne, Wolfgang, Mundlos, Stefan, Braun, Hans-Steffen, Ritter, Heide, Uhlmann, Karen, Laing, Nigel, Chandler, David, Tinschert, Sigrid, Mischung, Claudia, Nürnberg, Peter, Kotzot, Dieter

“…Craniometaphyseal dysplasia (CMD) is a bone dysplasia characterized by overgrowth and sclerosis of the craniofacial bones and abnormal modeling of the…”
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Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene by Budde, Birgit S, Binner, Priska, Waldmüller, Stephan, Höhne, Wolfgang, Blankenfeldt, Wulf, Hassfeld, Sabine, Brömsen, Jürgen, Dermintzoglou, Anastassia, Wieczorek, Marcus, May, Erik, Kirst, Elisabeth, Selignow, Carmen, Rackebrandt, Kirsten, Müller, Melanie, Goody, Roger S, Vosberg, Hans-Peter, Nürnberg, Peter, Scheffold, Thomas

“…Noncompaction of the ventricular myocardium (NVM) is the morphological hallmark of a rare familial or sporadic unclassified heart disease of heterogeneous…”
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Investigation of citrullinemia type I variants by in vitro expression studies by Berning, Christoph, Bieger, Iris, Pauli, Silke, Vermeulen, Tim, Vogl, Thomas, Rummel, Till, Höhne, Wolfgang, Koch, Hans Georg, Rolinski, Boris, Gempel, Klaus, Häberle, Johannes

“…Mild citrullinemia is an allelic variant of classical citrullinemia type I also caused by deficiency of the urea cycle enzyme argininosuccinate synthetase…”
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Engineering a circularly permuted GFP scaffold for peptide presentation by Paschke, Matthias, Tiede, Christian, Höhne, Wolfgang

“…The use of peptides as in vivo and in vitro ligand binding agents is hampered by the high flexibility, low stability and lack of intrinsic detection signal of…”
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The structure of the anti-c-myc antibody 9E10 Fab fragment/epitope peptide complex reveals a novel binding mode dominated by the heavy chain hypervariable loops by Krauß, Norbert, Wessner, Helga, Welfle, Karin, Welfle, Heinz, Scholz, Christa, Seifert, Martina, Zubow, Kristina, Aÿ, Jacqueline, Hahn, Michael, Scheerer, Patrick, Skerra, Arne, Höhne, Wolfgang

“…The X‐ray structure of the Fab fragment from the anti‐c‐myc antibody 9E10 was determined both as complex with its epitope peptide and for the free Fab. In the…”
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