| scholarly article | Q13442814 |
| P356 | DOI | 10.1093/HMG/DDW155 |
| P8608 | Fatcat ID | release_hmfsd6zbqvc6poq44pew5oujui |
| P932 | PMC publication ID | 5181596 |
| P698 | PubMed publication ID | 27340223 |
| P50 | author | Jay Shendure | Q15989781 |
| Jeffrey D Steimle | Q57654391 | ||
| Cheryl L Maslen | Q91000811 | ||
| P2093 | author name string | Roger H Reeves | |
| Wenhui Huang | |||
| Michael Peterson | |||
| Ozanna Burnicka-Turek | |||
| Ivan P Moskowitz | |||
| Peter J Gruber | |||
| Junghun Kweon | |||
| Anna Kamp | |||
| Lindsay Felker | |||
| Xinan H Yang | |||
| P2860 | cites work | A conditional knockout resource for the genome-wide study of mouse gene function | Q21735918 |
| The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice | Q21995957 | ||
| TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions | Q21999527 | ||
| Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. | Q22010856 | ||
| Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis | Q22253273 | ||
| Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome | Q22254061 | ||
| The Ciliopathies: An Emerging Class of Human Genetic Disorders | Q22337032 | ||
| Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene | Q24290475 | ||
| Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome) | Q24290886 | ||
| Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry | Q24292162 | ||
| Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure | Q24300203 | ||
| Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations | Q24300830 | ||
| BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes | Q24301377 | ||
| Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia | Q24302250 | ||
| Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia | Q24306479 | ||
| Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia | Q24306705 | ||
| High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy | Q24313134 | ||
| Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia | Q24315070 | ||
| DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects | Q24318839 | ||
| Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment | Q24322570 | ||
| Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3 | Q24337720 | ||
| The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation | Q24337819 | ||
| Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes | Q24597048 | ||
| Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study | Q24622509 | ||
| Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome | Q24622660 | ||
| Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model | Q24629863 | ||
| Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia | Q24633410 | ||
| The magnitude of hedgehog signaling activity defines skin tumor phenotype | Q24671053 | ||
| Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method | Q25938999 | ||
| IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment. | Q27315067 | ||
| Global genetic analysis in mice unveils central role for cilia in congenital heart disease | Q27316952 | ||
| Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega | Q27860809 | ||
| A method and server for predicting damaging missense mutations | Q27860835 | ||
| The Sequence Alignment/Map format and SAMtools | Q27860966 | ||
| A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition | Q28000057 | ||
| A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain | Q28000085 | ||
| Disruption of a ciliary B9 protein complex causes Meckel syndrome | Q28114969 | ||
| Functional genomics of the cilium, a sensory organelle | Q28118687 | ||
| Differential gene expression during capillary morphogenesis in 3D collagen matrices: regulated expression of genes involved in basement membrane matrix assembly, cell cycle progression, cellular differentiation and G-protein signaling | Q28202549 | ||
| The Meckel syndrome: clinicopathological findings in 67 patients | Q28269375 | ||
| Planar cell polarity effector gene Fuzzy regulates cilia formation and Hedgehog signal transduction in mouse | Q28505727 | ||
| Targeted deletion of the ATP binding domain of left-right dynein confirms its role in specifying development of left-right asymmetries | Q28507104 | ||
| A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling | Q28507443 | ||
| A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus | Q28507717 | ||
| The primary cilium coordinates early cardiogenesis and hedgehog signaling in cardiomyocyte differentiation | Q28507794 | ||
| Broad-minded links cell cycle-related kinase to cilia assembly and hedgehog signal transduction | Q28508448 | ||
| Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice. | Q34341740 | ||
| Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects | Q34357108 | ||
| featureCounts: an efficient general purpose program for assigning sequence reads to genomic features | Q34384848 | ||
| MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis | Q34397616 | ||
| Predicting the functional effect of amino acid substitutions and indels | Q34441875 | ||
| Genetic and physical mapping of the McKusick-Kaufman syndrome | Q34456613 | ||
| MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome | Q34485076 | ||
| Making or breaking the heart: from lineage determination to morphogenesis | Q34567781 | ||
| Genetic defects in ciliary structure and function | Q34576108 | ||
| Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. | Q34611131 | ||
| Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online | Q34614062 | ||
| A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome | Q34700895 | ||
| Ion Torrent sequencing for conducting genome-wide scans for mutation mapping analysis | Q35059236 | ||
| Lateralization defects and ciliary dyskinesia: lessons from algae | Q35076952 | ||
| Ptch1 and Gli regulate Shh signalling dynamics via multiple mechanisms | Q35407375 | ||
| The emerging genetics of primary ciliary dyskinesia | Q35532199 | ||
| Mutation discovery in mice by whole exome sequencing | Q35840678 | ||
| A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases | Q36005552 | ||
| Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia | Q36151690 | ||
| Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics | Q36276303 | ||
| The ciliopathies: a transitional model into systems biology of human genetic disease | Q36433131 | ||
| Piecing together a ciliome | Q36543698 | ||
| Multiple essential roles for primary cilia in heart development | Q36585449 | ||
| Familial recurrence of congenital heart disease: an overview and review of the literature. | Q36647833 | ||
| Meckel syndrome: genetics, perinatal findings, and differential diagnosis | Q36772085 | ||
| Primary ciliary dyskinesia: improving the diagnostic approach | Q36880306 | ||
| The Oak Ridge Polycystic Kidney mouse: modeling ciliopathies of mice and men | Q37118904 | ||
| Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease | Q37166264 | ||
| Ciliary defects and genetics of primary ciliary dyskinesia | Q37467405 | ||
| Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands | Q37624558 | ||
| Making sense of cilia in disease: the human ciliopathies. | Q37624563 | ||
| A spatiotemporal evaluation of the contribution of the dorsal mesenchymal protrusion to cardiac development | Q37730021 | ||
| Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. | Q37870811 | ||
| The pathogenesis of atrial and atrioventricular septal defects with special emphasis on the role of the dorsal mesenchymal protrusion | Q38019645 | ||
| Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome | Q33904573 | ||
| Mutations in MKKS cause Bardet-Biedl syndrome | Q33916574 | ||
| Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review | Q33927051 | ||
| Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome | Q33938671 | ||
| HYDROMETROCOLPOS AS A SIMPLY INHERITED MALFORMATION. | Q33971582 | ||
| Genome-wide identification of mouse congenital heart disease loci | Q34013514 | ||
| Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder | Q34092150 | ||
| Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia | Q34102243 | ||
| Primary cilia are required in a unique subpopulation of neural progenitors | Q34119929 | ||
| Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients | Q34137705 | ||
| Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins | Q34140923 | ||
| DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME | Q34258230 | ||
| Left-right asymmetry and cardiac looping: implications for cardiac development and congenital heart disease | Q34263595 | ||
| Clinical aspects of defects in the determination of laterality | Q34318391 | ||
| Monocilia in the embryonic mouse heart suggest a direct role for cilia in cardiac morphogenesis | Q28508699 | ||
| Tbx5-hedgehog molecular networks are essential in the second heart field for atrial septation | Q28509085 | ||
| Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors | Q28509134 | ||
| Pitx2c patterns anterior myocardium and aortic arch vessels and is required for local cell movement into atrioventricular cushions | Q28509759 | ||
| PCP effector proteins inturned and fuzzy play nonredundant roles in the patterning but not convergent extension of mammalian neural tube | Q28510436 | ||
| A role for the primary cilium in Notch signaling and epidermal differentiation during skin development | Q28510710 | ||
| IFT25 links the signal-dependent movement of Hedgehog components to intraflagellar transport | Q28511590 | ||
| Complex interactions between genes controlling trafficking in primary cilia | Q28512423 | ||
| Foxf genes integrate tbx5 and hedgehog pathways in the second heart field for cardiac septation | Q28544519 | ||
| The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development | Q28584722 | ||
| Cilia and Hedgehog responsiveness in the mouse | Q28585101 | ||
| In vivo mutagenesis of the Hoxb8 hexapeptide domain leads to dominant homeotic transformations that mimic the loss-of-function mutations in genes of the Hoxb cluster | Q28585334 | ||
| Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus | Q28588205 | ||
| Analysis of mouse embryonic patterning and morphogenesis by forward genetics | Q28589055 | ||
| Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling | Q28589839 | ||
| Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice | Q28590964 | ||
| Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome | Q28591420 | ||
| Hedgehog signalling in the mouse requires intraflagellar transport proteins | Q28593010 | ||
| Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella | Q28593253 | ||
| A crucial role for primary cilia in cortical morphogenesis | Q28594044 | ||
| The Oak Ridge Polycystic Kidney (orpk) disease gene is required for left-right axis determination | Q28594105 | ||
| Genetic elimination of Suppressor of fused reveals an essential repressor function in the mammalian Hedgehog signaling pathway | Q28594509 | ||
| Fast and accurate long-read alignment with Burrows-Wheeler transform | Q29547193 | ||
| Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2 | Q29547403 | ||
| The incidence of congenital heart disease | Q29614195 | ||
| The vertebrate primary cilium in development, homeostasis, and disease | Q29614609 | ||
| Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome | Q29615746 | ||
| Two populations of node monocilia initiate left-right asymmetry in the mouse | Q29617071 | ||
| A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome | Q30442429 | ||
| Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis | Q30495744 | ||
| Congenital heart disease and the specification of left-right asymmetry | Q30514244 | ||
| Situs inversus and ciliary abnormalities: 20 years later, what is the connection? | Q30615165 | ||
| Spectrum of heart malformations in mice with situs solitus, situs inversus, and associated visceral heterotaxy | Q33480750 | ||
| Meckel syndrome | Q33680876 | ||
| Complex genetics and the etiology of human congenital heart disease | Q33790650 | ||
| Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes | Q33872398 | ||
| Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) - a case report and review of congenital heart defects reported in the human ciliopathies | Q38036534 | ||
| Cilia and coordination of signaling networks during heart development | Q38171918 | ||
| Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia | Q39508664 | ||
| Encephalocele, polycystic kidneys, and polydactyly with other defects. A necropsy case of Meckel syndrome and a review of literature | Q39775447 | ||
| Random determination of a developmental process: reversal of normal visceral asymmetry in the mouse | Q41064140 | ||
| The McKusick-Kaufman syndrome: Recessively inherited vaginal atresia, hydrometrocolpos, uterovaginal duplications, anorectal anomalies, postaxial polydactyly, and congenital heart disease | Q41635606 | ||
| Intracardiac septation requires hedgehog-dependent cellular contributions from outside the heart | Q42095294 | ||
| TBX1 regulates epithelial polarity and dynamic basal filopodia in the second heart field | Q42468113 | ||
| Kif7 regulates Gli2 through Sufu-dependent and -independent functions during skin development and tumorigenesis | Q42513668 | ||
| What are those cilia doing in the neural tube? | Q42778592 | ||
| Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. | Q42833243 | ||
| sonic hedgehog is required in pulmonary endoderm for atrial septation | Q43140502 | ||
| Sensitive nonradioactive detection of mRNA in tissue sections: novel application of the whole-mount in situ hybridization protocol | Q43512161 | ||
| Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. | Q44484888 | ||
| Mouse mutagenesis identifies novel roles for left-right patterning genes in pulmonary, craniofacial, ocular, and limb development | Q45243964 | ||
| Contemporary management of congenital malformations of the heart in infants with Ellis – van Creveld syndrome: a report of nine cases | Q45396607 | ||
| Patterns of recurrence of congenital heart disease: an analysis of 6,640 consecutive pregnancies evaluated by detailed fetal echocardiography | Q47644393 | ||
| Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia | Q48029561 | ||
| Ciliary proteins and exencephaly | Q48668721 | ||
| Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome | Q48822663 | ||
| Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. | Q50878628 | ||
| Abnormal nodal flow precedes situs inversus in iv and inv mice | Q51049412 | ||
| Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. | Q51896554 | ||
| Intraflagellar transport is essential for endochondral bone formation. | Q51999372 | ||
| Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD | Q52159624 | ||
| CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome. | Q53594094 | ||
| Heterotaxia, congenital heart disease, and primary ciliary dyskinesia. | Q55044037 | ||
| Two Distinct Pools of Mesenchyme Contribute to the Development of the Atrial Septum | Q56000971 | ||
| Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation | Q57523668 | ||
| Abnormal laterality and congenital cardiac anomalies. Relations of visceral and cardiac morphologies in the iv/iv mouse | Q68223748 | ||
| Meckel-Gruber syndrome. Importance of prenatal diagnosis | Q68660258 | ||
| Visceral anomalies in the Meckel syndrome | Q70098395 | ||
| Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly" | Q70815819 | ||
| First-trimester diagnosis of Meckel-Gruber syndrome by transabdominal sonography in a low-risk case | Q71375792 | ||
| Expression of the IV (reversed and/or heterotaxic) phenotype in SWV mice | Q72916441 | ||
| Genetic aspects of atrioventricular septal defects | Q73934214 | ||
| Conotruncal myocardium arises from a secondary heart field | Q77102388 | ||
| Origin and course of the coronary arteries in normal mice and in iv/iv mice | Q77118846 | ||
| The arterial pole of the mouse heart forms from Fgf10-expressing cells in pharyngeal mesoderm | Q77153201 | ||
| A new gene, EVC2, is mutated in Ellis-van Creveld syndrome | Q78618176 | ||
| Deficiency of the vestibular spine in atrioventricular septal defects in human fetuses with down syndrome | Q78772886 | ||
| Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation | Q80370540 | ||
| New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure | Q84333700 | ||
| Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family | Q84677003 | ||
| P433 | issue | 14 | |
| P921 | main subject | MKS transition zone complex subunit 1 | Q21436455 |
| P1104 | number of pages | 18 | |
| P304 | page(s) | 3011-3028 | |
| P577 | publication date | 2016-06-23 | |
| P1433 | published in | Human Molecular Genetics | Q2720965 |
| P1476 | title | Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms | |
| P478 | volume | 25 |
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| Q55348041 | Recent Advances in Placenta–Heart Interactions. |
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