Search Results - "Harms, Frederike"

Functional analysis of CASK transcript variants expressed in human brain by Tibbe, Debora, Pan, Yingzhou Edward, Reißner, Carsten, Harms, Frederike L, Kreienkamp, Hans-Jürgen

“…The calcium-/calmodulin dependent serine protein kinase (CASK) belongs to the membrane-associated guanylate kinases (MAGUK) family of proteins. It fulfils…”
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Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder by Harms, Frederike L., Kloth, Katja, Bley, Annette, Denecke, Jonas, Santer, René, Lessel, Davor, Hempel, Maja, Kutsche, Kerstin

“…p21-activated kinases (PAKs) are serine/threonine protein kinases acting as effectors of CDC42 and RAC, which are members of the RHO family of small GTPases…”
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INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms by Hecher, Laura, Harms, Frederike L., Lisfeld, Jasmin, Alawi, Malik, Denecke, Jonas, Kutsche, Kerstin

“…Type I inositol polyphosphate-4-phosphatase (INPP4A) belongs to the group of phosphoinositide phosphatases controlling proliferation, apoptosis, and endosome…”
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Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype by Abdalla, Ebtesam, Alawi, Malik, Meinecke, Peter, Kutsche, Kerstin, Harms, Frederike L.

“…The cardiofacioneurodevelopmental syndrome (CFNDS) is characterized by craniofacial anomalies including bilateral cleft lip and palate, cardiac, skeletal, and…”
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A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a by Harms, Frederike L., Weiss, Deike, Lisfeld, Jasmin, Alawi, Malik, Kutsche, Kerstin

“…DNM1 developmental and epileptic encephalopathy (DEE) is characterized by severe to profound intellectual disability, hypotonia, movement disorder, and…”
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A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger, Causes Early-Onset Neurodegeneration by Polovitskaya, Maya M., Barbini, Carlo, Martinelli, Diego, Harms, Frederike L., Cole, F. Sessions, Calligari, Paolo, Bocchinfuso, Gianfranco, Stella, Lorenzo, Ciolfi, Andrea, Niceta, Marcello, Rizza, Teresa, Shinawi, Marwan, Sisco, Kathleen, Johannsen, Jessika, Denecke, Jonas, Carrozzo, Rosalba, Wegner, Daniel J., Kutsche, Kerstin, Tartaglia, Marco, Jentsch, Thomas J.

“…Dysfunction of the endolysosomal system is often associated with neurodegenerative disease because postmitotic neurons are particularly reliant on the…”
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A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy by Piard, Juliette, Umanah, George K Essien, Harms, Frederike L, Abalde-Atristain, Leire, Amram, Daniel, Chang, Melissa, Chen, Rong, Alawi, Malik, Salpietro, Vincenzo, Rees, Mark I, Chung, Seo-Kyung, Houlden, Henry, Verloes, Alain, Dawson, Ted M, Dawson, Valina L, Van Maldergem, Lionel, Kutsche, Kerstin

“…ATAD1 encodes Thorase, an AAA+ ATPase that helps control postsynaptic AMPA receptor internalisation. Piard et al. report three siblings with lethal…”
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The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations by Velho, Renata Voltolini, Harms, Frederike L., Danyukova, Tatyana, Ludwig, Nataniel F., Friez, Michael J., Cathey, Sara S., Filocamo, Mirella, Tappino, Barbara, Güneş, Nilay, Tüysüz, Beyhan, Tylee, Karen L., Brammeier, Kathryn L., Heptinstall, Lesley, Oussoren, Esmee, Ploeg, Ans T., Petersen, Christine, Alves, Sandra, Saavedra, Gloria Durán, Schwartz, Ida V., Muschol, Nicole, Kutsche, Kerstin, Pohl, Sandra

“…Mutations in the GNPTAB and GNPTG genes cause mucolipidosis (ML) type II, type III alpha/beta, and type III gamma, which are autosomal recessively inherited…”
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Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation by von Elsner, Leonie, Chai, Guoliang, Schneeberger, Pauline E, Harms, Frederike L, Casar, Christian, Qi, Minyue, Alawi, Malik, Abdel-Salam, Ghada M H, Zaki, Maha S, Arndt, Florian, Yang, Xiaoxu, Stanley, Valentina, Hempel, Maja, Gleeson, Joseph G, Kutsche, Kerstin

“…The major spliceosome mediates pre-mRNA splicing by recognizing the highly conserved sequences at the 5' and 3' splice sites and the branch point. More than…”
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Mannose receptor induces T-cell tolerance via inhibition of CD45 and up-regulation of CTLA-4 by Schuette, Verena, Embgenbroich, Maria, Ulas, Thomas, Welz, Meike, Schulte-Schrepping, Jonas, Draffehn, Astrid M., Quast, Thomas, Koch, Katharina, Nehring, Melanie, König, Jessica, Zweynert, Annegret, Harms, Frederike L., Steiner, Nancy, Limmer, Andreas, Förster, Irmgard, Berberich-Siebelt, Friederike, Knolle, Percy A., Wohlleber, Dirk, Kolanus, Waldemar, Beyer, Marc, Schultze, Joachim L., Burgdorf, Sven

“…The mannose receptor (MR) is an endocytic receptor involved in serum homeostasis and antigen presentation. Here, we identify the MR as a direct regulator of…”
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Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype by Kloth, Katja, Bierhals, Tatjana, Johannsen, Jessika, Harms, Frederike L., Juusola, Jane, Johnson, Mark C., Grange, Dorothy K., Kutsche, Kerstin

“…Rare heterozygous variants in SMAD6 have been identified as a significant genetic contributor to bicuspid aortic valve-associated thoracic aortic aneurysm on…”
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Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth by Harms, Frederike L, Rexach, Jessica Erin, Efthymiou, Stephanie, Aynekin, Busra, Per, Hüseyin, Güleç, Ayten, Nampoothiri, Sheela, Sampaio, Hugo, Sachdev, Rani, Stoeva, Radka, Myers, Kasiani, Pena, Loren D M, Kalfa, Theodosia A, Chard, Marisa, Klassen, Megan, Pries, Megan, Kutsche, Kerstin

“…Biallelic loss-of-function variants in TBC1D2B have been reported in five subjects with cognitive impairment and seizures with or without gingival overgrowth…”
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Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy by Syrbe, Steffen, Harms, Frederike L, Parrini, Elena, Montomoli, Martino, Mütze, Ulrike, Helbig, Katherine L, Polster, Tilman, Albrecht, Beate, Bernbeck, Ulrich, van Binsbergen, Ellen, Biskup, Saskia, Burglen, Lydie, Denecke, Jonas, Heron, Bénédicte, Heyne, Henrike O, Hoffmann, Georg F, Hornemann, Frauke, Matsushige, Takeshi, Matsuura, Ryuki, Kato, Mitsuhiro, Korenke, G Christoph, Kuechler, Alma, Lämmer, Constanze, Merkenschlager, Andreas, Mignot, Cyril, Ruf, Susanne, Nakashima, Mitsuko, Saitsu, Hirotomo, Stamberger, Hannah, Pisano, Tiziana, Tohyama, Jun, Weckhuysen, Sarah, Werckx, Wendy, Wickert, Julia, Mari, Francesco, Verbeek, Nienke E, Møller, Rikke S, Koeleman, Bobby, Matsumoto, Naomichi, Dobyns, William B, Battaglia, Domenica, Lemke, Johannes R, Kutsche, Kerstin, Guerrini, Renzo

“…De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-erythrocyte αII spectrin, have been associated with severe West syndrome with…”
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Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities by Karaca, Ender, Posey, Jennifer E., Bostwick, Bret, Liu, Pengfei, Gezdirici, Alper, Yesil, Gozde, Coban Akdemir, Zeynep, Bayram, Yavuz, Harms, Frederike L., Meinecke, Peter, Alawi, Malik, Bacino, Carlos A., Sutton, V. Reid, Kortüm, Fanny, Lupski, James R.

“…Co‐occurrence of primordial dwarfism and microcephaly together with particular skeletal findings are seen in a wide range of Mendelian syndromes including…”
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Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature by Abdelrazek, Ibrahim M., Holling, Tess, Harms, Frederike L., Alawi, Malik, Omar, Tarek, Abdalla, Ebtesam, Kutsche, Kerstin

“…Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 (CFSMR1; OMIM#213980) is a rare autosomal recessive disorder…”
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MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency by Knapp, Karen M, Jenkins, Danielle E, Sullivan, Rosie, Harms, Frederike L, von Elsner, Leonie, Ockeloen, Charlotte W, de Munnik, Sonja, Bongers, Ernie M H F, Murray, Jennie, Pachter, Nicholas, Denecke, Jonas, Kutsche, Kerstin, Bicknell, Louise S

“…The MCM2-7 helicase is a heterohexameric complex with essential roles as part of both the pre-replication and pre-initiation complexes in the early stages of…”
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Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth by Harms, Frederike L., Parthasarathy, Padmini, Zorndt, Dennis, Alawi, Malik, Fuchs, Sigrid, Halliday, Benjamin J., McKeown, Colina, Sampaio, Hugo, Radhakrishnan, Natasha, Radhakrishnan, Suresh K., Gorce, Magali, Navet, Benjamin, Ziegler, Alban, Sachdev, Rani, Robertson, Stephen P., Nampoothiri, Sheela, Kutsche, Kerstin

“…The family of Tre2‐Bub2‐Cdc16 (TBC)‐domain containing GTPase activating proteins (RABGAPs) is not only known as key regulatorof RAB GTPase activity but also…”
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Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta by Danyukova, Tatyana, Ludwig, Nataniel F., Velho, Renata V., Harms, Frederike L., Güneş, Nilay, Tidow, Henning, Schwartz, Ida V., Tüysüz, Beyhan, Pohl, Sandra

“…Mucolipidosis (ML) II and III alpha/beta are inherited lysosomal storage disorders caused by mutations in GNPTAB encoding the α/β‐precursor of…”
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Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus by Melo, Uirá Souto, Piard, Juliette, Fischer-Zirnsak, Björn, Klever, Marius-Konstantin, Schöpflin, Robert, Mensah, Martin Atta, Holtgrewe, Manuel, Arbez-Gindre, Francine, Martin, Alain, Guigue, Virginie, Gaillard, Dominique, Landais, Emilie, Roze, Virginie, Kremer, Valerie, Ramanah, Rajeev, Cabrol, Christelle, Harms, Frederike L., Kornak, Uwe, Spielmann, Malte, Mundlos, Stefan, Van Maldergem, Lionel

“…During human organogenesis, lung development is a timely and tightly regulated developmental process under the control of a large number of signaling…”
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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias by Harms, Frederike L., Dingemans, Alexander J.M., Hempel, Maja, Pfundt, Rolph, Bierhals, Tatjana, Casar, Christian, Müller, Christian, Niermeijer, Jikke-Mien F., Fischer, Jan, Jahn, Arne, Hübner, Christoph, Majore, Silvia, Agolini, Emanuele, Novelli, Antonio, van der Smagt, Jasper, Ernst, Robert, van Binsbergen, Ellen, Mancini, Grazia M.S., van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Wakeling, Emma L., Kamath, Arveen, Downie, Lilian, Pais, Lynn, White, Susan M., de Vries, Bert B.A., Kutsche, Kerstin

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