About: Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

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About: Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis Goto Sponge NotDistinct Permalink

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description	artículu científicu espublizáu en 2017 (ast) 2017 թվականի փետրվարին հրատարակված գիտական հոդված (hy) 2017 թուականի Փետրուարին հրատարակուած գիտական յօդուած (hyw) наукова стаття, опублікована в лютому 2017 (uk) scientific journal article (en) article scientifique publié en 2017 (fr) im Februar 2017 veröffentlichter wissenschaftlicher Artikel (de) 2017 ഫെബ്രുവരി 2 നു പ്രസിദ്ധീകരിച്ച ശാസ്ത്ര ലേഖനം (ml) wetenschappelijk artikel (gepubliceerd op 2017/02/02) (nl) مقالة علمية (نشرت في 2-2-2017) (ar)
publication date	wds:Q28975782-3318B789-F203-447C-9AF1-9A1C96A5F496
publication date	2017-02-02 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q28975782-4AE817A9-034F-46FE-842B-8F25FA75BCD4
language of work or name	English
cites work	wds:Q28975782-14958344-B2B7-4C4C-A4C0-B7A086874F44 wds:Q28975782-1767E543-397C-4D67-A2D3-C6EF3AAD2A7E wds:Q28975782-1F5F4C1D-B335-4AFC-B0D6-A6E8BCFA6EC5 wds:Q28975782-21A10F40-2159-4366-985C-E0AE8345BBC8 wds:Q28975782-21AA1897-4139-4A25-B982-B709DB169087 wds:Q28975782-250419D3-0CD4-4AC6-986F-EF03989D5442 wds:Q28975782-2EC64ACA-96D0-4E07-ADBE-4788E1335C4C wds:Q28975782-2F0A443E-CC86-44BF-9F1F-835AD409D01B wds:Q28975782-30B5060D-379A-4CD4-9DC1-B68D4DDA0291 wds:Q28975782-327DDD31-A67F-48A0-BB0A-11FD2D083B4F wds:Q28975782-3C52CBE4-CB99-40E4-BE60-3FC317A01684 wds:Q28975782-3D42D189-0FDF-48FA-AB7B-0019BF9654D8 wds:Q28975782-45D13643-09E9-43C7-AB21-C1BFB1599339 wds:Q28975782-50F574D9-AA30-4317-AC01-D31ADD1D2D02 wds:Q28975782-65CB1D07-6813-48F1-86BB-AEFB219B89B5 wds:Q28975782-675B66C5-CEAC-480F-8910-D77729A7F1DC wds:Q28975782-6814EAE4-73F0-4752-AAAF-FB4A914FACCA wds:Q28975782-78C54DA7-E9EF-4013-B615-A9FA9814B0A3 wds:Q28975782-794BC586-095C-47B0-ABCF-C8D27E7A6A47 wds:Q28975782-82C3DD72-F394-42F1-9D85-5A341C1087B1 wds:Q28975782-8946938A-0D61-4D51-9BBA-E2CCEF9D302B wds:Q28975782-8CD08700-D548-44D4-8DE8-376F8B58E94C wds:Q28975782-98F6D0CF-06C6-46BA-8E18-800252E67963 wds:Q28975782-9D6259B1-7B54-46F8-B85A-EDC350E8A786 wds:Q28975782-ABDDC391-0D01-47BA-8677-B23B041CC3A6 wds:Q28975782-AF379C13-9240-4F88-87A0-2B6DC56B1910 wds:Q28975782-B122C0CD-09EA-4609-93D5-F09B675217D4 wds:Q28975782-B346617A-A6C3-4169-8A2A-564046E2DCD6 wds:Q28975782-BD57CE58-2415-42A9-B222-AADBB0E759F8 wds:Q28975782-C1DFE9DB-4A74-4340-9970-5A9EC9A52B79 wds:Q28975782-C48D71D7-979C-4B4B-870E-34A00311A0F3 wds:Q28975782-C6FFD098-E348-433B-A599-702C5854E3F4 wds:Q28975782-C770E413-335D-48E7-BE3D-F643CDBC83C4 wds:Q28975782-C8999D98-3583-47A6-82FB-FCBAA85382BB wds:Q28975782-CF1C5CAB-33D9-45F6-89AA-E281B0AA0396 wds:Q28975782-D502AA64-1802-4F95-9048-348C9DC1E7A0 wds:Q28975782-EB5F5C72-5D5D-481D-BABA-9B080623106B wds:Q28975782-EBCAF238-8772-4D33-8A31-DBD61775054B wds:Q28975782-ECE06D07-7FD8-46DD-8593-59DC24E17C61 wds:Q28975782-F47289DE-A924-4024-8348-DD5E7471A8B0 wds:Q28975782-F912407B-0104-4589-91D7-66C639BB201A wds:Q28975782-F9994020-5596-4174-BCAD-6338A0584585 wds:Q28975782-FCA351D4-C567-4294-B848-7977CEB9E7B9
cites work	The c-Jun N-terminal kinase (JNK)-binding protein (JNKBP1) acts as a negative regulator of NOD2 protein signaling by inhibiting its oligomerization process Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture WDR62 is associated with the spindle pole and is mutated in human microcephaly A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS Proteomic analysis of mammalian primary cilia Proteomic characterization of the human centrosome by protein correlation profiling ESEfinder: A web resource to identify exonic splicing enhancers WD40-repeat protein 62 is a JNK-phosphorylated spindle pole protein required for spindle maintenance and timely mitotic progression NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19 Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy Aphidicolin prevents mitotic cell division by interfering with the activity of DNA polymerase-alpha Ciliopathies Proteomics of Primary Cilia by Proximity Labeling Initiation of DNA fragmentation during apoptosis induces phosphorylation of H2AX histone at serine 139 DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling Nephronophthisis and related syndromes Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization A novel Jun N-terminal kinase (JNK)-binding protein that enhances the activation of JNK by MEK kinase 1 and TGF-beta-activated kinase 1 Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice Mutations of CEP83 cause infantile nephronophthisis and intellectual disability Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome Molecular evolution of WDR62, a gene that regulates neocorticogenesis WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. The Role of JNK Signalling in Responses to Oxidative DNA Damage Are renal ciliopathies (replication) stressed out? A novel c-Jun N-terminal kinase (JNK)-binding protein WDR62 is recruited to stress granules and mediates a nonclassical JNK activation. Identification and analysis of a novel dimerization domain shared by various members of c-Jun N-terminal kinase (JNK) scaffold proteins NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation JNK-binding protein 1 regulates NF-kappaB activation through TRAF2 and TAK1. Identification of a novel mutation in the humanPDE6Agene in autosomal recessive retinitis pigmentosa: homology with thenmf28/nmf28mice model

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