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Mechanisms of Development, ISSN 0925-4773, 07/2017, Volume 145, pp. S38 - S38
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2009, Volume 41, Issue 9, pp. 1016 - 1021
Journal Article
Journal Article
Journal Article
Nature communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 4993 - 13
Signals arising from bacterial infections are detected by pathogen recognition receptors (PRRs) and are transduced by specialized adapter proteins in mammalian... 
Adaptor proteins | Oligomerization | Threonine | Adapters | Caspase | Activation | Kinases | Self propagation | Mammalian cells | Domains | Interfaces | Proteins | Signaling | Signal transduction | Receptors | Molecular modelling | Mutagenesis | Protein kinase | Nod1 protein | Autoimmune diseases | Adapter proteins | NOD2 protein
Journal Article
by Hengel, Holger and Bosso-Lefèvre, C. lia and Grady, George and Szenker-Ravi, Emmanuelle and Li, Hankun and Pierce, Sarah and Lebigot, Élise and Tan, Thong-Teck and Eio, Michelle Y and Narayanan, Gunaseelan and Utami, Kagistia Hana and Yau, Monica and Handal, Nader and Deigendesch, Werner and Keimer, Reinhard and Marzouqa, Hiyam M and Gunay-Aygun, Meral and Muriello, Michael J and Verhelst, Helene and Weckhuysen, Sarah and Mahida, Sonal and Naidu, Sakkubai and Thomas, Terrence G and Lim, Jiin Ying and Tan, Ee Shien and Haye, Damien and Willemsen, Michèl A. A. P and Oegema, Renske and Mitchell, Wendy G and Pierson, Tyler Mark and Anews, Marisa V and Willing, Marcia C and Rodan, Lance H and Barakat, Tahsin Stefan and van Slegtenhorst, Marjon and Gavrilova, Ralitza H and Martinelli, Diego and Gilboa, Tal and Tamim, Abdullah M and Hashem, Mais O and AlSayed, Moeenaldeen D and Abdulrahim, Maha M and Al-Owain, Mohammed and Awaji, Ali and Mahmoud, Adel A. H and Faqeih, Eissa A and Asmari, Ali Al and Algain, Sulwan M and Jad, Lamyaa A and Aldhalaan, Hesham M and Helbig, Ingo and Koolen, David A and Riess, Angelika and Kraegeloh-Mann, Ingeborg and Bauer, Peter and Gulsuner, Suleyman and Stamberger, Hannah and Ng, Alvin Yu Jin and Tang, Sha and Tohari, Sumanty and Keren, Boris and Schultz-Rogers, Laura E and Klee, Eric W and Barresi, Sabina and Tartaglia, Marco and Mor-Shaked, Hagar and Maddirevula, Sateesh and Begtrup, Amber and Telegrafi, Aida and Pfundt, Rolph and Schüle, Rebecca and Ciruna, Brian and Bonnard, Carine and Pouladi, Mahmoud A and Stewart, James C and Claridge-Chang, Adam and Lefeber, Dirk J and Alkuraya, Fowzan S and Mathuru, Ajay S and Venkatesh, Byrappa and Barycki, Joseph J and Simpson, Melanie A and Jamuar, Saumya S and Schöls, Ludger and Reversade, Bruno
Nature communications, ISSN 2041-1723, 2020, Volume 11, Issue 1, pp. 595 - 16
Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an... 
Dehydrogenases | Oligomerization | Proteoglycans | Stability | Oxidoreductase | Epilepsy | Zebrafish | Glucose | Dehydrogenase | Delay | UDP-glucose 6-dehydrogenase | Glucose dehydrogenase | Hypotonia | Organoids | Enzymatic activity | Glycolipids | Encephalopathy | Fibroblasts | Neural stem cells | Extracellular matrix | Mutation | Seizures
Journal Article
Current Opinion in Genetics & Development, ISSN 0959-437X, 06/2019, Volume 56, pp. iii - iv
Journal Article
Nature, ISSN 0028-0836, 2018, Volume 557, Issue 7706, pp. 564 - 569
Journal Article
Mechanisms of Development, ISSN 0925-4773, 07/2017, Volume 145, pp. S32 - S32
Journal Article
Clinical Neurology and Neurosurgery, ISSN 0303-8467, 02/2020, Volume 189, p. 105636
•This cohort reveals a severe HSAN IV phenotype in Jordanian patients.•All patients manifested global developmental delay, microcephaly and poor weight... 
CIPA | Children | Jordan | Insensitivity to pain | HSAN IV | Cornea | Congenital defects | Families & family life | Arthritis | Microcephaly | Ethics | Genotype & phenotype | Missense mutation | Pain | NTRK1 gene | Growth factors | Age | Phenotypes | Pain perception | Sweating | Teeth | Patients | Fever | Hip | Neurology | Congenital insensitivity to pain with anhidrosis | Microencephaly | Ulcers | Sepsis | Amyloidosis | Skin | Consanguinity | Mutation
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2011, Volume 43, Issue 4, pp. 365 - 371
Journal Article
Neuron, ISSN 0896-6273, 12/2014, Volume 84, Issue 6, pp. 1240 - 1257
Journal Article
Hypertension, ISSN 0194-911X, 09/2018, Volume 72, Issue Suppl_1
Journal Article