case report | Q2782326 |
scholarly article | Q13442814 |
P2093 | author name string | Godard P | |
Lafitte JJ | |||
Harricane MC | |||
Guichard C | |||
Bouvagnet P | |||
Lalau G | |||
Zaegel M | |||
Tack V | |||
P2860 | cites work | Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein | Q22008584 |
Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB | Q22008707 | ||
Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development. | Q22008848 | ||
Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. | Q22010856 | ||
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects | Q24290483 | ||
Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene | Q24308877 | ||
Characterization of a novel human dynein-related gene that is specifically expressed in testis | Q24312730 | ||
Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment | Q24322570 | ||
X-linked situs abnormalities result from mutations in ZIC3 | Q24323307 | ||
Multiple mouse chromosomal loci for dynein-based motility | Q24329086 | ||
Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse | Q28504917 | ||
Mutation of the mouse hepatocyte nuclear factor/forkhead homologue 4 gene results in an absence of cilia and random left-right asymmetry | Q28506579 | ||
Targeted deletion of the ATP binding domain of left-right dynein confirms its role in specifying development of left-right asymmetries | Q28507104 | ||
Ciliogenesis and left-right axis defects in forkhead factor HFH-4-null mice | Q28511679 | ||
Left-right asymmetry and kinesin superfamily protein KIF3A: new insights in determination of laterality and mesoderm induction by kif3A-/- mice analysis | Q28512332 | ||
Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice | Q28590964 | ||
Asymmetry of cilia and of mice and men. | Q33724755 | ||
No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD). | Q33923991 | ||
Identification, tissue specific expression, and chromosomal localisation of several human dynein heavy chain genes | Q33933177 | ||
Flagella in prokaryotes and lower eukaryotes | Q35568759 | ||
Axonemal dyneins | Q35870301 | ||
Molecular analysis of the microtubule motor dynein | Q36552380 | ||
Mucociliary transport and ultrastructural abnormalities in Polynesian bronchiectasis | Q36660465 | ||
Axonemal dyneins: assembly, organization, and regulation | Q41099644 | ||
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity | Q45050475 | ||
Dynein arms are oscillating force generators | Q47924190 | ||
Cloning of inv, a gene that controls left/right asymmetry and kidney development. | Q48021550 | ||
Abnormal nodal flow precedes situs inversus in iv and inv mice | Q51049412 | ||
Zur Pathogenese der Bronchiektasien | Q56386693 | ||
Spermatogenesis revisited. IV. Abnormal spermiogenesis in mice homozygous for another male-sterility-inducing mutation, hpy (hydrocephalic-polydactyl) | Q67585119 | ||
Ciliary structure in health and disease | Q73201056 | ||
Ultrastructural expression of primary ciliary dyskinesia after ciliogenesis in culture | Q73201065 | ||
Success rates of respiratory epithelial cell culture techniques with ciliogenesis for diagnosing primary ciliary dyskinesia | Q73201067 | ||
Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia | Q77958578 | ||
P433 | issue | 4 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | dyskinesia | Q629444 |
situs inversus | Q1456383 | ||
primary ciliary dyskinesia | Q1690779 | ||
Kartagener syndrome | Q18928105 | ||
outer dynein arm assembly | Q21102156 | ||
Dynein axonemal intermediate chain 1 | Q21110042 | ||
P304 | page(s) | 1030-1035 | |
P577 | publication date | 2001-02-23 | |
P1433 | published in | American Journal of Human Genetics | Q4744249 |
P1476 | title | Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome) | |
P478 | volume | 68 |
Q24300196 | A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia |
Q88045141 | A novel mutation of the axonemal dynein heavy chain gene 5 (DNAH5) in a Japanese neonate with asplenia syndrome |
Q48159062 | ANKS3 is mutated in a family with autosomal recessive laterality defect |
Q44927419 | Accelerated mortality from hydrocephalus and pneumonia in mice with a combined deficiency of SPAG6 and SPAG16L reveals a functional interrelationship between the two central apparatus proteins |
Q41367733 | An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families |
Q34465976 | An incredible decade for the primary cilium: a look at a once-forgotten organelle |
Q47770189 | Applications of emerging transmission electron microscopy technology in PCD research and diagnosis |
Q96576776 | Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype |
Q28209818 | Biochemical and molecular characterization of diseases linked to motor proteins |
Q27308979 | CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia |
Q28592641 | CRISPR/Cas9-Mediated Rapid Generation of Multiple Mouse Lines Identified Ccdc63 as Essential for Spermiogenesis |
Q79711499 | Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype |
Q24298786 | Characterization of ciliated bronchial epithelium 1, a ciliated cell-associated gene induced during mucociliary differentiation |
Q37530115 | Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms |
Q27312495 | Ciliary beating recovery in deficient human airway epithelial cells after lentivirus ex vivo gene therapy |
Q53563472 | Ciliary ultrastructure in two sisters with Kartagener's syndrome. |
Q39857217 | Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents |
Q48896643 | Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations |
Q34609964 | Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome |
Q30495744 | Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis |
Q24318839 | DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects |
Q36287982 | Do we know anything about how left-right asymmetry is first established in the vertebrate embryo? |
Q37031749 | EGF shifts human airway basal cell fate toward a smoking-associated airway epithelial phenotype |
Q54319348 | Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. |
Q47776704 | Flow on the right side of the gastrocoel roof plate is dispensable for symmetry breakage in the frog Xenopus laevis |
Q43850900 | From ultrastructural flagellar sperm defects to the health of babies conceived by ICSI. |
Q81663849 | Further studies on knockout mice lacking a functional dynein heavy chain (MDHC7). 1. Evidence for a structural deficit in the axoneme |
Q38181444 | Gene mutations in primary ciliary dyskinesia related to otitis media |
Q90669133 | Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association |
Q35667275 | Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives |
Q38563680 | Genetic basis of human left-right asymmetry disorders |
Q26748534 | Genetic factors contributing to human primary ciliary dyskinesia and male infertility |
Q35700199 | Genetic regulation of cilia assembly and the relationship to human disease |
Q26782119 | Genetics and biology of primary ciliary dyskinesia |
Q36298333 | Genetics of human heterotaxias |
Q50099690 | Genome-Wide Identification and Characterization of WD40 Protein Genes in the Silkworm, Bombyx mori |
Q52310582 | Genome-wide association for testis weight in the diversity outbred mouse population. |
Q34102243 | Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia |
Q24292401 | Identification of dynein heavy chain 7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia |
Q43235661 | Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes |
Q37815055 | In vitro culturing of ciliary respiratory cells--a model for studies of genetic diseases |
Q35558670 | Interaction makes the heart grow stronger |
Q48219291 | Investigation of the possible role of a novel gene, DPCD, in primary ciliary dyskinesia |
Q35059236 | Ion Torrent sequencing for conducting genome-wide scans for mutation mapping analysis |
Q51726068 | Isolation and expression of the human hPF20 gene orthologous to Chlamydomonas PF20: evaluation as a candidate for axonemal defects of respiratory cilia and sperm flagella. |
Q40493931 | Kartagener syndrome |
Q49296343 | Kartagener's syndrome and infertility: observation, diagnosis and treatment |
Q27333763 | LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects |
Q35076952 | Lateralization defects and ciliary dyskinesia: lessons from algae |
Q37587079 | Left-right asymmetry in gut development: what happens next? |
Q43168035 | Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25. |
Q57137187 | Localization of candidate regions for a novel gene for Kartagener syndrome |
Q24635321 | Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia |
Q37514946 | Management of primary ciliary dyskinesia/Kartagener's syndrome in infertile male patients and current progress in defining the underlying genetic mechanism. |
Q34803099 | Mechanical control of tissue morphogenesis |
Q37812789 | Mechanisms of mammalian ciliary motility: Insights from primary ciliary dyskinesia genetics |
Q24297464 | Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia |
Q99564767 | Motile ciliopathies |
Q35818102 | Motor or sensor: a new aspect of primary cilia function |
Q92614174 | Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia |
Q24292162 | Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry |
Q24314576 | Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia |
Q35842529 | Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients |
Q24302250 | Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia |
Q24300203 | Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure |
Q24297678 | Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation |
Q34167368 | Non-cystic fibrosis bronchiectasis: review and recent advances |
Q41601957 | Normal live birth after vitrified/warmed oocytes intracytoplasmic sperm injection with immotile spermatozoa in a patient with Kartagener's syndrome |
Q30499660 | Oda16/Wdr69 is essential for axonemal dynein assembly and ciliary motility during zebrafish embryogenesis |
Q37624432 | Picking up speed: advances in the genetics of primary ciliary dyskinesia |
Q47073937 | Polaris and Polycystin-2 in dorsal forerunner cells and Kupffer's vesicle are required for specification of the zebrafish left-right axis |
Q34461593 | Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD). |
Q90403178 | Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia |
Q36616809 | Primary ciliary dyskinesia and upper airway diseases |
Q28589174 | Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1. |
Q38025037 | Primary ciliary dyskinesia, an orphan disease |
Q37049872 | Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities |
Q36276303 | Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics |
Q51640417 | Primary ciliary dyskinesia: diagnostic and phenotypic features. |
Q36880306 | Primary ciliary dyskinesia: improving the diagnostic approach |
Q36920626 | Primary ciliary dyskinesia: recent advances in pathogenesis, diagnosis and treatment |
Q91966626 | Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia |
Q63246374 | Recent Developments in mRNA-Based Protein Supplementation Therapy to Target Lung Diseases |
Q30586012 | Restoring ciliary function to differentiated primary ciliary dyskinesia cells with a lentiviral vector |
Q56968837 | Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q |
Q48627724 | Subcellular localization and function of mouse radial spoke protein 3 in mammalian cells and central nervous system |
Q37303341 | Syndromes, disorders and maternal risk factors associated with neural tube defects (V). |
Q28592361 | The transcription factor RFX3 directs nodal cilium development and left-right asymmetry specification |
Q96950942 | The transcriptional signature associated with human motile cilia |
Q34565864 | Transmission electron microscopy in the diagnosis of primary ciliary dyskinesia |
Q29617071 | Two populations of node monocilia initiate left-right asymmetry in the mouse |
Q27324715 | Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. |
Q28534863 | Whole-organ isolation approach as a basis for tissue-specific analyses in Schistosoma mansoni |
Q55715968 | ZMYND10 functions in a chaperone relay during axonemal dynein assembly. |
Q37217054 | Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia |
Q64048127 | [Molecular basis of the primary ciliary dyskinesias] |
Q81885715 | [Primary ciliary dyskinesia. Clinical presentation and diagnosis] |
Q81885718 | [The respiratory mucociliary system and its exploration in primary ciliary dyskinesia] |