Reduced mucociliary clearance in primary ciliary dyskinesia (PCD) causes recurrent infections of the upper and lower ... Ciliary Motility Disorders / genetics* * Dyneins / genetics* * Genetic Linkage * Genetic Markers * Homozygote * Humans ... Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein ... Reduced mucociliary clearance in primary ciliary dyskinesia (PCD) causes recurrent infections of the upper and lower ...

Ciliary Motility Disorders / genetics* * Ciliary Motility Disorders / pathology * Genetic Diseases, Inborn * Humans ... The ciliopathies: an emerging class of human genetic disorders Annu Rev Genomics Hum Genet. 2006;7:125-48. doi: 10.1146/annurev ... Recent evidence indicates that ciliary defects can lead to a broader set of developmental and adult phenotypes, with mutations ... where defects in ciliary structure and function can lead to a predictable phenotypic pattern that has potentially predictive ...

Pedersen M. Specific types of abnormal ciliary motility in Kartageners syndrome and analogous respiratory disorders. A ... Patients with primary ciliary dyskinesia exhibit a wide range of defects in ciliary ultrastructure and motility, which ... Current nomenclature classifies all congenital ciliary disorders as primary ciliary dyskinesias in order to differentiate them ... Ciliary motility in immotile cilia syndrome. Chest. 1980 Oct. 78(4):580-2. [QxMD MEDLINE Link]. ...

Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing ... "Primary Ciliary Dyskinesia". PMID 20301301. {{cite journal}}: Cite journal requires ,journal= (help) Blanchon S, Legendre M, ... "Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia". Journal of Medical ...

... "ciliary motility disorder"[tiab] OR "immotile cilia syndrome"[tiab]) OR "ciliary motility disorders"[mh]) AND (patients[tiab] ... "ciliary motility disorder"[tiab] OR "immotile cilia syndrome"[tiab]) OR "ciliary motility disorders"[mh]) AND ("clinical ... Pathophysiology of the ciliary motility syndromes. Eur J Respir Dis Suppl 1983; 127: 102-117. ... Sleep disordered breathing and airway disease in primary ciliary dyskinesia. Respirology 2014; 19: 570-575. ...

Bi-allelic variants in INTS11 are associated with a complex neurological disorder. Undiagnosed Diseases Network, Granadillo De ... Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment. ...

Research Keywords: Bronchial diseases; Ciliary motility disorders; Laryngeal diseases; Lung diseases; Neuromuscular disorders; ... Research Keywords: Bronchial diseases; Ciliary motility disorders; Laryngeal diseases; Lung diseases; Neuromuscular disorders; ... Gastroesophageal reflux disease (GERD) is a common disorder in asthmatic patients and the two disorders may be linked ... Heart failure (HF) is known to be associated with sleep-disordered breathing (SDB). In addition to disturbing patients sleep, ...

Ciliary Motility Disorders. Ear Diseases. Laryngeal Diseases. Nose Diseases. Otorhinolaryngologic Neoplasms. Pharyngeal ... Use and follow the search options below to find specific genetic disorders within this category. To refine your search, select ...

Ciliary Motility Disorders 1 0 Child Behavior Disorders 1 0 Chlamydia Infections 1 0 ... Content source: Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics, National Center on ...

Ciliary Motility Disorders 100% * Gene Dosage 80% * Cilia 79% * Alleles 41% * Phenotype 40% ... The Relationship of Attention-Deficit/Hyperactivity Disorder With Posttraumatic Stress Disorder: A Two-Sample Mendelian ... The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes. Horani, A., Gupta, D. K., Xu, J., Xu, H., Puga- ... Dutcher, S. K., Jan 1 2023, The Chlamydomonas Sourcebook: Volume 3: Cell Motility and Behavior. Elsevier, Vol. 3. p. xv-xv ...

Ciliary Motility Disorders 100% * Whole Exome Sequencing 80% * Nitric Oxide 30% * Nose 30% ... Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia. Gileles-Hillel, A., Mor-Shaked, H., Shoseyov, D ...

Ciliary Motility Disorders 100% * Electron Microscopy 58% * Economics 52% * Peru 34% * Respiratory Sounds 29% ... Primary ciliary dyskinesia in children. Role of electron microscopy in countries with medium economic resources. ...

Ciliary Motility Disorders 100% * Genes 7% * Genetic Testing 10% * High-Throughput Nucleotide Sequencing 65% ... Dive into the research topics of Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary ... Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort. ...

Ciliary Motility Disorders (0) * Granuloma, Respiratory Tract (0) * Laryngeal Diseases (3) * Lung Diseases (3) ...

Ciliary motility disorders are known to cause hydrocephalus. The instantaneous velocity of cerebrospinal fluid (CSF) flow is ... These findings suggest that a ciliary motility disorder could delay CSF exchange in the anterior and inferior horns of the ... We developed healthy and reduced cilia motility models based on experimental data of cilia-induced velocity in healthy wild- ... The results indicate that there is almost no difference in intraventricular pressure between healthy and reduced cilia motility ...

PRIMARY see CILIARY MOTILITY DISORDERS 1992-2001. History Note:. 2002 (1963); for CILIARY DYSKINESIA, PRIMARY use CILIARY ... Ciliary Dyskinesia, Primary, 1. Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus. Dextrocardia, Bronchiectasis, ... An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by ... An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by ...

Ciliary Motility Disorders. *Dyskinetic Syndrome. *Autoimmune Reaction. *Hypertrophy. *Ear Inflammation. Pathways for TTLL1 ...

Disorder, Ciliary Motility Disorder, Cocaine-Related Disorder, Cognition Disorder, Combat Disorder, Combat Stress Disorder, ... Disorders, Chromosomal Disorders, Chromosome Disorders, Chronic Fatigue Disorders, Ciliary Motility Disorders, Cocaine-Related ... Disorder, Drug Use Disorder, Dysthymic Disorder, Eczematous Disorder, Elimination Disorder, Esophageal Motility Disorder, ... Disorder, Manic Disorder, Menstruation Disorder, Mental Disorder, Migraine Disorder, Mitochondrial Disorder, Mood Disorder, ...

Ciliary Motility Disorders C16.131.77.245.500 C16.320.184.500 Ciliary Neurotrophic Factor D12.776.641.600.212 D12.776.631.600. ... Sperm Motility G4.299.283.750 G4.198.750 Sperm Transport G4.299.283.800 G4.198.800 G8.686.785.760.277.820 G8.686.784.277.820 ... Autocrine Motility Factor D12.776.543.750.68 D12.776.543.750.660 Receptors, Biogenic Amine D12.776.543.750.69 D12.776.543.750. ... Trigger Finger Disorder C5.651.869.870.800.800 C5.651.869.816.800 Trillium B1.650.940.800.575.100.610.772 B1.650.940.800. ...

Ciliary Motility Disorders C16.131.77.245.500 C16.320.184.500 Ciliary Neurotrophic Factor D12.776.641.600.212 D12.776.631.600. ... Sperm Motility G4.299.283.750 G4.198.750 Sperm Transport G4.299.283.800 G4.198.800 G8.686.785.760.277.820 G8.686.784.277.820 ... Autocrine Motility Factor D12.776.543.750.68 D12.776.543.750.660 Receptors, Biogenic Amine D12.776.543.750.69 D12.776.543.750. ... Trigger Finger Disorder C5.651.869.870.800.800 C5.651.869.816.800 Trillium B1.650.940.800.575.100.610.772 B1.650.940.800. ...

Ciliary Motility Disorders C16.131.77.245.500 C16.320.184.500 Ciliary Neurotrophic Factor D12.776.641.600.212 D12.776.631.600. ... Sperm Motility G4.299.283.750 G4.198.750 Sperm Transport G4.299.283.800 G4.198.800 G8.686.785.760.277.820 G8.686.784.277.820 ... Autocrine Motility Factor D12.776.543.750.68 D12.776.543.750.660 Receptors, Biogenic Amine D12.776.543.750.69 D12.776.543.750. ... Trigger Finger Disorder C5.651.869.870.800.800 C5.651.869.816.800 Trillium B1.650.940.800.575.100.610.772 B1.650.940.800. ...

Ciliary Motility Disorders C16.131.77.245.500 C16.320.184.500 Ciliary Neurotrophic Factor D12.776.641.600.212 D12.776.631.600. ... Sperm Motility G4.299.283.750 G4.198.750 Sperm Transport G4.299.283.800 G4.198.800 G8.686.785.760.277.820 G8.686.784.277.820 ... Autocrine Motility Factor D12.776.543.750.68 D12.776.543.750.660 Receptors, Biogenic Amine D12.776.543.750.69 D12.776.543.750. ... Trigger Finger Disorder C5.651.869.870.800.800 C5.651.869.816.800 Trillium B1.650.940.800.575.100.610.772 B1.650.940.800. ...

... and the transcription factor Foxj1 in the mouse have demonstrated that ciliary motility is important for L-R asymmetry.5 ,7 ,8 ... Disorders of left-right asymmetry: heterotaxy and situs inversus. Am J Med Genet C Semin Med Genet 2009;151C:307-17. doi: ... A human laterality disorder associated with recessive CCDC11 mutation. J Med Genet 2012;49:386-90. doi:10.1136/jmedgenet-2011- ... This disorder is often associated with anomalies of the spleen and the gastrointestinal system, such as asplenia or polysplenia ...

... affects ciliary motility, and is reduced by acetylcysteine Cystic fibrosis (CF) is the most common genetic disorder in the ...

Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing ...

Further, our results point stress that ciliary motility complexes such as dynein arms are organised in a compartementalised ... mainly Exome Sequencing to unravel the underlying genetic cause of human ciliary disorders. This has led to the identification ... As DNAH9 is only required for movement of parts of the cilium, cilia motility impairment is mild. Therefore, patients with ... With regards to non-motile ciliopathies, we focus on reno-skeletal disorders such as Jeune Syndrom and Short-Rib-Polydactyly ...

Ciliary Motility Disorders. *Hypothalamic Diseases. *Bardet-Biedl Syndrome. *Hypothalamic Neoplasms. *Laurence-Moon Syndrome ... An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism ...

... lack of ciliary motility in primary ciliary dyskinesia [PCD], or damage to the cilia and/or airways secondary to infection or ... Primary ciliary dyskinesia should be considered if adults with bronchiectasis also have chronic sinus disease or otitis media, ... Ciliary ultrastructure may also be normal in some patients with PCD syndromes, requiring further testing to identify abnormal ... Diffuse bronchiectasis sometimes complicates common autoimmune disorders, such as rheumatoid arthritis Rheumatoid Arthritis (RA ...

Ciliary Motility Disorders [C09.150] * Ear Diseases [C09.218] * Laryngeal Diseases [C09.400] * Nose Diseases [C09.603] ...