| scholarly article | Q13442814 |
| P356 | DOI | 10.1038/S10038-018-0514-Z |
| P698 | PubMed publication ID | 30291279 |
| P2093 | author name string | Guangyan Cai | |
| Jie Yang | |||
| Ping Li | |||
| Xiangmei Chen | |||
| Qinggang Li | |||
| Fei Xiao | |||
| Yani He | |||
| P2860 | cites work | Alström syndrome. Report of 22 cases and literature review. | Q50504866 |
| Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine. | Q52575181 | ||
| Can Tissue Cilia Lengths and Urine Cilia Proteins Be Markers of Kidney Diseases? | Q55191663 | ||
| A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence | Q21092494 | ||
| CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation | Q24303570 | ||
| Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia | Q24306705 | ||
| Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia | Q24306741 | ||
| Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects | Q24321486 | ||
| Primary ciliary dyskinesia. | Q27333212 | ||
| Intraflagellar transport | Q28131775 | ||
| PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2 | Q28585618 | ||
| Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease | Q28585961 | ||
| The primary cilium: a signalling centre during vertebrate development | Q29547197 | ||
| When cilia go bad: cilia defects and ciliopathies | Q29547198 | ||
| Ciliopathies | Q29614821 | ||
| The primary cilium as the cell's antenna: signaling at a sensory organelle | Q29615165 | ||
| SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information | Q29615720 | ||
| The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance | Q29620386 | ||
| From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline | Q30872351 | ||
| The outer dynein arm-docking complex: composition and characterization of a subunit (oda1) necessary for outer arm assembly | Q34011786 | ||
| The roles of cilia in developmental disorders and disease | Q34571559 | ||
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| Primary ciliary dyskinesia: current state of the art. | Q36121455 | ||
| Sensory cilia and integration of signal transduction in human health and disease | Q36714545 | ||
| Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease | Q36802848 | ||
| Clinical utility gene card for: Alström Syndrome - update 2013. | Q37235200 | ||
| Renal primary cilia lengthen after acute tubular necrosis | Q37367710 | ||
| Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization. | Q40696787 | ||
| Crystal structure and molecular interactions of tropomyosin | Q41644631 | ||
| A neurofibrillar method stains solitary (primary) cilia in the mammalian retina: Their distribution and age-related changes | Q42449790 | ||
| Alström syndrome: genetics and clinical overview | Q42813081 | ||
| Hepatic ischemia/reperfusion injury disrupts the homeostasis of kidney primary cilia via oxidative stress | Q46367371 | ||
| Glomerular Density and Volume in Renal Biopsy Specimens of Children with Proteinuria Relative to Preterm Birth and Gestational Age. | Q47817930 | ||
| Usher's Syndrome: Evaluation of the Vestibular System with Cervical and Ocular Vestibular Evoked Myogenic Potentials and the Video Head Impulse Test | Q50352198 | ||
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | dyskinesia | Q629444 |
| phenotype | Q104053 | ||
| deafness | Q12133 | ||
| kidney disease | Q1054718 | ||
| primary ciliary dyskinesia | Q1690779 | ||
| P304 | page(s) | 39-48 | |
| P577 | publication date | 2018-10-05 | |
| P1433 | published in | Journal of Human Genetics | Q6295302 |
| P1476 | title | CCDC114 is mutated in patient with a complex phenotype combining primary ciliary dyskinesia, sensorineural deafness, and renal disease | |
| P478 | volume | 64 |
| Q98778893 | Identification of a CCDC114 variant in a Han-Chinese patient with situs inversus |
| Q89747716 | Modelling of pancreatic cancer biology: transcriptomic signature for 3D PDX-derived organoids and primary cell line organoid development |
| Q94589356 | Wampa is a dynein subunit required for axonemal assembly and male fertility in Drosophila |
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