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306 Possible Causes for Nek1, kinase

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  • Short Rib-Polydactyly Syndrome Type Majewski

    NEK1 encodes a serine/threonine kinase with proposed function in DNA double-strand repair, neuronal development, and coordination of cell-cycle-associated ciliogenesis.[] […] transport protein DYNC2H1 in short-rib polydactyly syndrome 1 reference stated in PubMed Central reference URL retrieved 19 March 2017 Mitotic regulation by NIMA-related kinases[] The NEK1 mutation causes an alteration of the splice acceptor site of intron 7 (IVS7-1 G A). No second mutation was identified.[]

  • Tyrosine Kinase 2 Deficiency

    We describe a Turkish patient with tyrosine kinase 2 deficiency who suffered from disseminated Bacille Calmette-Guerin infection, neurobrucellosis, and cutaneous herpes zoster[] NIMA (never in mitosis gene a)-related kinase 1 NEK1 NEK10 NIMA (never in mitosis gene a)- related kinase 10 NEK10 NEK11 NIMA (never in mitosis gene a)-related kinase 11[] The cytokine signals were successfully restored by transducing the intact tyrosine kinase 2 gene. Thus, tyrosine kinase 2 plays obligatory roles in human immunity.[]

  • Short Rib-Polydactyly Syndrome

    We found that absence of functional full-length NEK1 severely reduces cilia number and alters ciliar morphology in vivo.[] […] required for normal skeletogenesis, we performed exome sequencing in a cohort of patients and identified homozygosity for a missense mutation, p.E80K, in Intestinal Cell Kinase[] The NEK1 mutation causes an alteration of the splice acceptor site of intron 7 (IVS7-1 G A). No second mutation was identified.[]

  • TK2-Related Myopathic Mitochondrial DNA Depletion Syndrome

    COL9A3, COMP, CRTAP, DDR2, DYM, EBP, EIF2AK3, FGFR3, FLNB, GALNS, GDF5, GLB1, GPX4, HSPG2, IHH, IMPAD1, INPPL1, KIF22, LBR, P3H1, LIFR, LONP1, MATN3, MMP13, MMP9, NANS, NEK1[] Recently, MDS has been linked to mutations in two genes involved in deoxyribonucleotide (dNTP) metabolism: thymidine kinase 2 (TK2) and deoxyguanosine kinase (dGK).[] Thymidine kinase 2 is involved in the production and maintenance of mtDNA.[]

  • Autosomal-Recessive Robinow Syndrome

    The gene ROR2, which encodes an orphan membrane-bound tyrosine kinase, maps to this region.[] […] with or without polydactyly TTC21B Short-rib thoracic dysplasia type 5 with or without polydactyly WDR19 Short-rib thoracic dysplasia type 6 with or without polydactyly NEK1[] The tyrosine kinase domain is involved in an as yet uncharacterized signaling pathway.[]

  • Thanatophoric Dysplasia

    COL1A2, COL2A1, COMP, CRTAP, DLL3, DYNC2H1, EBP, EVC, EVC2, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GNPAT, HSPG2, IFITM5, IFT172, INPPL1, KIAA0586, LBR, LEPRE1(P3H1), LIFR, NEK1[] P3 inhibited tyrosine kinase activity of FGFR3 and its typical downstream molecules, extracellular signal-regulated kinase/mitogen-activated protein kinase.[] […] face, hypotonia, and developmental delay, Neuroaxonal neurodegeneration, infantile, with facial dysmophism NDE1 Lissencephaly, Microhydranencephaly NEB Nemaline myopathy NEK1[]

  • FGFR2-Related Bent Bone Dysplasia

    […] tyrosine kinase activity.[] Short-rib thoracic dysplasia 6 (with or without polydactyly)/short-rib polydactyly syndrome type II (Majewski type) AR or digenic ( NEK1/DYNC2H1) Constricted thoracic cage[] kinases.[]

  • PDE4D Haploinsufficiency Syndrome

    NDUFA11 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NEFH NEFL NEK1[] Kinase D2 Antibodies anti-Protein Kinase D1 Antibodies anti-Protein Kinase C, zeta Antibodies anti-Protein Kinase C, theta Antibodies anti-Protein Kinase C, iota Antibodies[] By using a consensus phosphorylation site of SIK1, we identified PDE4D as a new substrate for this kinase family.[]

  • Amelogenesis Imperfecta Type 1G with Nephrocalcinosis

    PIK3CA, MYCN, B3GALT6, IFT122, EIF2AK3, DHCR24, VIPAS39, AKT1, EXT2, EXT1, MGP, SMARCAL1, NOTCH2, PGM3, TCTN3, IFT172, CSPP1, WNT5A, DYNC2H1, ESCO2, HOXA13, ROR2, TBX15, NEK1[] - CAUTION: Although strongly related to other members of the family, CC lacks the kinase activity.[] […] lateral sclerosis, susceptibility to}, 105400 (3) NEFL 162280 Charcot-Marie-Tooth disease, type 1F, 607734 (3) NEFL 162280 Charcot-Marie-Tooth disease, type 2E, 607684 (3) NEK1[]

  • AICA-Ribosiduria

    NEK1 G:604588 . Short rib-polydactyly syndorme, type II, 263520 (3) NEK11 G:609779 . . NEK2 G:604043 . . NEK3 G:604044 . . NEK4 G:601959 . . NEK6 G:604884 . .[] The tumor suppressor gene product LKB1 has been shown to be the predominant AMPK kinase in most cell types ( 16–18 ).[] Beyond AICA riboside: In search of new specific AMP-activated protein kinase activators . IUBMB Life , 61 (1), 18-26.[]

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