Keywords: autosomal dominant polycystic kidney disease; ciliopathies; genetic testing; glomerulopathies; inherited kidney diseases; targeted next-generation sequencing;
مقالات ISI (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies
Keywords: LCSH/ROH; Ciliopathies; SPAG17; WDR35; SNP arrays; Exome sequencing;
Choroby wÄ
troby i nerek w przebiegu ciliopatii
Keywords: ciliopatie; rzÄski pierwotne; wrodzone wÅóknienie wÄ
troby; choroba Caroliego; wielotorbielowata choroba wÄ
troby; autosomalnie recesywna wielotorbielowatoÅÄ nerek; autosomalnie dominujÄ
ca wielotorbielowatoÅÄ nerek; nefronoftyza; Ciliopathies; Pri
Cilia-dependent GLI processing in neural crest cells is required for tongue development
Keywords: Aglossia; Primary cilia; Craniofacial; Neural crest cell; Ciliopathies; Tongue development; Mouse; Sonic Hedgehog; Gli;
Utilizing the chicken as an animal model for human craniofacial ciliopathies
Keywords: Chicken; Craniofacial; talpid2; talpid3; Primary cilia; Ciliopathies; Oral-facial-digital syndrome; Joubert syndrome;
Archival ReportAblation of Type III Adenylyl Cyclase in Mice Causes Reduced Neuronal Activity, Altered Sleep Pattern, and Depression-like Phenotypes
Keywords: Ciliopathies; Major depressive disorder (MDD); Neuronal activity; Primary cilia; Sleep alteration; Type III adenylyl cyclase (AC3; ADCY3);
Structural and molecular bases of rod photoreceptor morphogenesis and disease
Keywords: Photoreceptor; Cryo-electron tomography; Retinal imaging; Retinal degeneration; Disease mechanisms; Ciliopathies; ADRP; autosomal dominant retinitis pigmentosa; BBS; Bardet-Biedl syndrome; BBSome; membrane coat complex formed by BBS gene products; Cryo-ET
Algorithm for the molecular analysis of Bardet–Biedl syndrome in Spain
Keywords: Ciliopathies; Prevalence; Bardet–Biedl syndrome; Diagnosis algorithmCiliopatías; Prevalencia; Síndrome de Bardet-Biedl; Algoritmo diagnóstico
Anks3 interacts with nephronophthisis proteins and is required for normal renal development
Keywords: ankyrin-repeat proteins; ciliopathies; nephronophthisis; renal development;
Bardet-Biedl syndrome: Is it only cilia dysfunction?
Keywords: Bardet-Biedl syndrome; Cilia; Ciliopathies;
Anks3 alters the sub-cellular localization of the Nek7 kinase
Keywords: Nephronophthisis; Ankyrin repeat proteins; Ciliopathies; Kinase;
Mating behavior, male sensory cilia, and polycystins in Caenorhabditis elegans
Keywords: Polycystins; TRP channel; Cilia; Ciliopathies; Mating behavior; Sensory biology;
Cilia and ciliopathies: Classic examples linking phenotype and genotype-An overview
Keywords: Cilia; Ciliopathies; Genes; Phenotype; Genotype; Mutations; Dysfunction;
Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome
Keywords: Cilia; Ciliopathies; Wnt signalling; Proliferation; Embryonic development;
Smelling the roses and seeing the light: gene therapy for ciliopathies
Keywords: cilia; viral vectors; genetic disorder; gene therapy; ciliopathies; treatment
Ciliary signaling cascades in photoreceptors
Keywords: Cilia; Ciliopathies; Retina; Transport; Signaling; Phototransduction; RPGR; RAB8A
Stages of ciliogenesis and regulation of ciliary length
Keywords: Length control; Intraflagellar transport; Ciliopathies; Ciliary signaling; Pharmacology
What’s new in… Ciliopathies
Keywords: ADPKD; ARPKD; Bardet-Biedl syndrome; centrosomes; cilia; ciliopathies; cysts; Meckel-Gruber syndrome; nephronopthisis; polycystic kidney disease
Is hearing loss a feature of Joubert syndrome, a ciliopathy?
Keywords: Joubert syndrome; Kinocilium; Ciliopathies; Hearing loss; Alström syndrome; Bardet–Biedl syndrome; Hyperacusis
Planar cell polarity and cilia
Keywords: Oriented cell division; Planar cell polarity; Cilium; Ciliopathies