case report | Q2782326 |
scholarly article | Q13442814 |
P50 | author | Val C. Sheffield | Q61268600 |
Vered Chalifa-Caspi | Q63645258 | ||
P2093 | author name string | Ruti Parvari | |
Soliman Alkrinawi | |||
Esther Manor | |||
Micha Aviram | |||
Masha Mazor | |||
P2860 | cites work | Primary ciliary dyskinesia: current state of the art. | Q36121455 |
Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics | Q36276303 | ||
Structural analysis of leucine-rich-repeat variants in proteins associated with human diseases | Q36288977 | ||
KinSNP software for homozygosity mapping of disease genes using SNP microarrays | Q36475118 | ||
Partially functional outer-arm dynein in a novel Chlamydomonas mutant expressing a truncated gamma heavy chain | Q36747024 | ||
An outer arm dynein light chain acts in a conformational switch for flagellar motility | Q37280412 | ||
Cilia multifunctional organelles at the center of vertebrate left-right asymmetry | Q37369332 | ||
Making sense of cilia in disease: the human ciliopathies. | Q37624563 | ||
Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. | Q39924359 | ||
Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates. | Q43073812 | ||
Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes | Q43235661 | ||
Stuck in reverse: loss of LC1 in Trypanosoma brucei disrupts outer dynein arms and leads to reverse flagellar beat and backward movement | Q46338926 | ||
Light chain 1 from the Chlamydomonas outer dynein arm is a leucine-rich repeat protein associated with the motor domain of the gamma heavy chain | Q47959169 | ||
Phytophthora nicotianae transformants lacking dynein light chain 1 produce non-flagellate zoospores | Q48064914 | ||
Nasal nitric oxide measurements for the screening of primary ciliary dyskinesia. | Q51687788 | ||
Optimal biopsy techniques in the diagnosis of primary ciliary dyskinesia. | Q51724962 | ||
Isolation of cilia from porcine tracheal epithelium and extraction of dynein arms | Q69992690 | ||
Innate pulmonary immunity: cilia | Q79795342 | ||
Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation | Q80370540 | ||
Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality | Q80486159 | ||
DNAI1 mutations explain only 2% of primary ciliary dykinesia | Q81147481 | ||
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation | Q24297678 | ||
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities | Q24308816 | ||
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs | Q24312161 | ||
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation | Q24312873 | ||
LRRC50, a conserved ciliary protein implicated in polycystic kidney disease | Q24316336 | ||
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects | Q24318839 | ||
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins | Q24321284 | ||
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects | Q24322484 | ||
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia | Q24322630 | ||
Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43 | Q24539037 | ||
Solution structure of a dynein motor domain associated light chain | Q27625156 | ||
Relaxation-based structure refinement and backbone molecular dynamics of the dynein motor domain-associated light chain | Q27640277 | ||
Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients | Q28591871 | ||
Overview of structure and function of mammalian cilia | Q29615164 | ||
An Outer Arm Dynein Conformational Switch Is Required for Metachronal Synchrony of Motile Cilia in Planaria | Q30497172 | ||
Kartagener's syndrome and the syndrome of immotile cilia | Q31132031 | ||
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene | Q33645954 | ||
Primary ciliary dyskinesia (PCD). | Q33875838 | ||
The leucine-rich repeat structure. | Q34769694 | ||
P433 | issue | 5 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | dyskinesia | Q629444 |
primary ciliary dyskinesia | Q1690779 | ||
homozygosity | Q114049690 | ||
dynein heavy chain binding | Q21110018 | ||
Dynein axonemal light chain 1 | Q21117523 | ||
P304 | page(s) | 599-607 | |
P577 | publication date | 2011-04-14 | |
P1433 | published in | American Journal of Human Genetics | Q4744249 |
P1476 | title | Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1 | |
P478 | volume | 88 |