Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

scientific article

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. is …
instance of (P31):
case reportQ2782326
scholarly articleQ13442814

External links are
P356DOI10.1016/J.AJHG.2011.03.018
P932PMC publication ID3146731
P698PubMed publication ID21496787
P5875ResearchGate publication ID51054758

P50authorVal C. SheffieldQ61268600
Vered Chalifa-CaspiQ63645258
P2093author name stringRuti Parvari
Soliman Alkrinawi
Esther Manor
Micha Aviram
Masha Mazor
P2860cites workPrimary ciliary dyskinesia: current state of the art.Q36121455
Primary ciliary dyskinesia: clinical presentation, diagnosis and geneticsQ36276303
Structural analysis of leucine-rich-repeat variants in proteins associated with human diseasesQ36288977
KinSNP software for homozygosity mapping of disease genes using SNP microarraysQ36475118
Partially functional outer-arm dynein in a novel Chlamydomonas mutant expressing a truncated gamma heavy chainQ36747024
An outer arm dynein light chain acts in a conformational switch for flagellar motilityQ37280412
Cilia multifunctional organelles at the center of vertebrate left-right asymmetryQ37369332
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 genesQ43235661
Stuck in reverse: loss of LC1 in Trypanosoma brucei disrupts outer dynein arms and leads to reverse flagellar beat and backward movementQ46338926
Light chain 1 from the Chlamydomonas outer dynein arm is a leucine-rich repeat protein associated with the motor domain of the gamma heavy chainQ47959169
Phytophthora nicotianae transformants lacking dynein light chain 1 produce non-flagellate zoosporesQ48064914
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 armsQ69992690
Innate pulmonary immunity: ciliaQ79795342
Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formationQ80370540
Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormalityQ80486159
DNAI1 mutations explain only 2% of primary ciliary dykinesiaQ81147481
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutationQ24297678
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalitiesQ24308816
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogsQ24312161
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formationQ24312873
LRRC50, a conserved ciliary protein implicated in polycystic kidney diseaseQ24316336
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defectsQ24318839
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneinsQ24321284
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defectsQ24322484
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesiaQ24322630
Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43Q24539037
Solution structure of a dynein motor domain associated light chainQ27625156
Relaxation-based structure refinement and backbone molecular dynamics of the dynein motor domain-associated light chainQ27640277
Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patientsQ28591871
Overview of structure and function of mammalian ciliaQ29615164
An Outer Arm Dynein Conformational Switch Is Required for Metachronal Synchrony of Motile Cilia in PlanariaQ30497172
Kartagener's syndrome and the syndrome of immotile ciliaQ31132031
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 geneQ33645954
Primary ciliary dyskinesia (PCD).Q33875838
The leucine-rich repeat structure.Q34769694
P433issue5
P407language of work or nameEnglishQ1860
P921main subjectdyskinesiaQ629444
primary ciliary dyskinesiaQ1690779
homozygosityQ114049690
dynein heavy chain bindingQ21110018
Dynein axonemal light chain 1Q21117523
P304page(s)599-607
P577publication date2011-04-14
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titlePrimary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1
P478volume88