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by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Ullmann, Jeremy F P and Hoogstraten, Charlotte A and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaëlle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I Chiara and Sanchez-Ferras, Oraly and Hu, Jennifer F and Boschat, Anne-Claire and Sanquer, Sylvia and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Gee, Heon Yung and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian K and Daga, Ankana and Basta, Tamara and Matejas, Verena and Scharmann, Karin and Kienast, Sana D and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gaffney, Patrick M and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-Ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okashah and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Ozaltin, Fatih and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth R and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish D and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Topaloglu, Rezan and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wierenga, Klaas J and Wolf, Matthias T F and Wong, Sik-Nin and Leidel, Sebastian A and Truglio, Gessica and Dedon, Peter C and Poduri, Annapurna and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Callewaert, Bert and van Tilbeurgh, Herman and Zenker, Martin and ...
Nature genetics, ISSN 1061-4036, 2017, Volume 49, Issue 10, pp. 1529 - 1538
YEAST | UNFOLDED PROTEIN RESPONSE | TRANSFER-RNA MODIFICATION | DNA | KINASE | SECKEL-SYNDROME | GENOME MAINTENANCE | WDR73 | GALLOWAY-MOWAT SYNDROME | MASS-SPECTROMETRY | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Metalloendopeptidases - genetics | Protein-Serine-Threonine Kinases - deficiency | Microcephaly - genetics | Humans | Metalloendopeptidases - deficiency | Apoptosis - genetics | Multiprotein Complexes - genetics | Nephrotic Syndrome - genetics | DNA Repair - genetics | Telomere Homeostasis - genetics | Endoplasmic Reticulum Stress - genetics | Intracellular Signaling Peptides and Proteins - deficiency | Hernia, Hiatal - genetics | Intracellular Signaling Peptides and Proteins - genetics | Podocytes - metabolism | RNA, Transfer - metabolism | Protein-Serine-Threonine Kinases - genetics | Models, Molecular | Nephrotic Syndrome - pathology | Zebrafish | Cytoskeleton - ultrastructure | Nephrosis - genetics | Gene Knockout Techniques | Carrier Proteins - genetics | Podocytes - ultrastructure | Zebrafish Proteins - deficiency | Animals | RNA Processing, Post-Transcriptional - genetics | CRISPR-Cas Systems | Protein Conformation | Mice | Mutation | Zebrafish Proteins - genetics | Cell Movement | Genetic disorders | Gene mutations | Development and progression | Nephrotic syndrome | Genetic aspects | Microcephaly | Health aspects | Cell proliferation | Brain | CRISPR | Genes | DNA damage | Genomes | Lethality | Kinases | Proteins | Genotype & phenotype | Microencephaly | Actin | Biopsy | Cytoskeleton | Scientific imaging | Endoplasmic reticulum | Mass spectrometry | Deoxyribonucleic acid--DNA | Apoptosis | Index Medicus | Life Sciences
Journal Article
Nature structural & molecular biology, ISSN 1545-9993, 07/2013, Volume 20, Issue 7, pp. 851 - 858
Journal Article
American journal of human genetics, ISSN 0002-9297, 06/2011, Volume 88, Issue 6, pp. 805 - 813
Journal Article
Genome medicine, ISSN 1756-994X, 03/2017, Volume 9, Issue 1, pp. 26 - 26
Journal Article
Nature medicine, ISSN 1078-8956, 07/2005, Volume 11, Issue 7, pp. 780 - 785
Journal Article
JAMA : the journal of the American Medical Association, ISSN 0098-7484, 07/2009, Volume 302, Issue 3, pp. 261 - 275
Journal Article
The Journal of clinical investigation, ISSN 0021-9738, 11/2012, Volume 122, Issue 11, pp. 4048 - 4058
Journal Article
Cell (Cambridge), ISSN 0092-8674, 2005, Volume 123, Issue 6, pp. 1147 - 1160
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Body Patterning - drug effects | Metalloendopeptidases - genetics | Organizers, Embryonic - physiology | Organizers, Embryonic - transplantation | Central Nervous System - metabolism | Bone Morphogenetic Proteins - physiology | Xenopus Proteins - genetics | Follistatin - genetics | Glycoproteins - metabolism | Metalloendopeptidases - metabolism | Oligodeoxyribonucleotides, Antisense - genetics | Intracellular Signaling Peptides and Proteins - metabolism | Central Nervous System - embryology | Intercellular Signaling Peptides and Proteins - metabolism | Membrane Proteins - physiology | Base Sequence | Carrier Proteins - administration & dosage | Tissue Transplantation | Xenopus laevis - genetics | Phosphorylation - drug effects | Intercellular Signaling Peptides and Proteins - administration & dosage | Bone Morphogenetic Proteins - genetics | Glycoproteins - genetics | Bone Morphogenetic Protein 4 | Bone Morphogenetic Proteins - administration & dosage | Xenopus laevis - embryology | Microinjections | Bone Morphogenetic Protein 2 | Membrane Proteins - genetics | Intercellular Signaling Peptides and Proteins - genetics | Transforming Growth Factor beta - physiology | Metalloendopeptidases - administration & dosage | Bone Morphogenetic Protein Receptors, Type I - metabolism | Glycoproteins - administration & dosage | Body Patterning - physiology | Proteins - genetics | Carrier Proteins - genetics | Animals | Transforming Growth Factor beta - genetics | Organizers, Embryonic - metabolism | Xenopus Proteins - physiology | Smad1 Protein - metabolism | Xenopus Proteins - metabolism | Mutation | Xenopus laevis - physiology | Bone Morphogenetic Protein 7 | Morphogenesis | Genetic research | Research | Genetic regulation | Ubiquitin-proteasome system | Bone morphogenetic proteins | Index Medicus
Journal Article