Cilia in primary ciliary. Medical search. Frequent questions

Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). (medlineplus.gov)
Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. (medlineplus.gov)
People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. (medlineplus.gov)
Some individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. (medlineplus.gov)
About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). (medlineplus.gov)
When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome. (medlineplus.gov)
Approximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. (medlineplus.gov)
Primary ciliary dyskinesia can also lead to infertility. (medlineplus.gov)
Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. (medlineplus.gov)
Another feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. (medlineplus.gov)
Rarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain. (medlineplus.gov)
Primary ciliary dyskinesia occurs in approximately 1 in 16,000 individuals. (medlineplus.gov)
Primary ciliary dyskinesia can result from mutations in many different genes. (medlineplus.gov)
Mutations in the genes that cause primary ciliary dyskinesia result in defective cilia that move abnormally or are unable to move (immotile). (medlineplus.gov)
Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive genetic ciliopathy, that causes defects in the action of cilia lining the upper and lower respiratory tract, sinuses, Eustachian tube, middle ear, Fallopian tube, and flagella of sperm cells. (wikipedia.org)
Around 80% of people with primary ciliary dyskinesia experience respiratory problems beginning within a day of birth. (wikipedia.org)
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia that leads to oto-sino-pulmonary diseases and organ laterality defects in approximately 50% of cases. (nih.gov)
Also see Primary Ciliary Dyskinesia (pediatrics). (medscape.com)
[ 2 ] first suggested ciliary dyskinesia as the cause of Kartagener syndrome in 1975. (medscape.com)
[ 5 ] coined the term primary ciliary dyskinesia (PCD) because some patients with Kartagener syndrome had cilia that were not immobile but exhibited an uncoordinated and inefficient movement pattern. (medscape.com)
Approximately one half of patients with primary ciliary dyskinesia have situs inversus and, thus, are classified as having Kartagener syndrome. (medscape.com)
In this study the ultrastructure of cilia in patients with primary ciliary dyskinesia was compared to that in patients with other respiratory infections and with that in healthy individuals. (nih.gov)
After statistical analysis of the findings, the prevalence and the specificity of morphological changes in primary ciliary dyskinesia were established. (nih.gov)
Guidelines were developed by which the existence of primary ciliary dyskinesia can be ascertained in biopsies of nasal mucosa via transmission electron microscopy. (nih.gov)
Few original studies have described the prevalence and severity of clinical symptoms of primary ciliary dyskinesia (PCD). (ersjournals.com)
Primary ciliary dyskinesia (PCD) is a rare inherited disease which affects ciliary structure and function. (ersjournals.com)
Primary ciliary dyskinesia (PCD), previously called immotile cilia syndrome (ICS), is a divers group of inherited structural and functional abnormalities affecting the cilia of the respiratory tract mucosa and other organs which results mainly in recurrent respiratory tract infections. (oldenglishsheepdogclubofamerica.org)
Transmission electron microscopy analysis of sampled ciliated cells and of ciliated cells after ciliogenesis confirmed the diagnosis of primary ciliary dyskinesia. (oldenglishsheepdogclubofamerica.org)
Diseases causing chronic non cardiac cough are common in dogs and include chronic bronchitis, eosinophilic bronchopneumopathy, idiopathic pulmonary fibrosis of terriers, recurrent bacterial bronchopneumonia related to chronic and repeated aspiration or to anatomic disorders such as primary ciliary dyskinesia, and others. (vin.com)
The development of this model will enable the future study of many lung diseases (especially those where defective cilia are involved, such as primary ciliary dyskinesia) that have been difficult to study in human models from a developmental perspective. (ca.gov)
This study aims to develop new ways to diagnose primary ciliary dyskinesia (PCD) or primary immune deficiency (PID), two conditions that can have similar symptoms. (nih.gov)
Do you or your child have primary ciliary dyskinesia (PCD) or primary immune deficiency (PID)? (nih.gov)
7 , 8 Pulmonary disorders such as cystic fibrosis (CF), COPD, and bronchiectasis alter the production and composition of mucus, and mucociliary clearance disorders, such as primary ciliary dyskinesia, reduce the efficacy of ciliary structure and function. (rcjournal.com)
Rare genetic disorders such as primary ciliary dyskinesia and Kartagener syndrome impair cilia structure and function. (rcjournal.com)
The 2019 Gordon Research Conference (GRC) on Cilia, Mucus and Mucociliary Interactions is a highly integrated and unique meeting uniting basic scientists, bioengineers, translational investigators and clinicians studying the components and fundamentals of cilia and mucus biology, their interface as a mucociliary apparatus and human diseases related to mucociliary dysfunction such as chronic obstructive lung disease, idiopathic pulmonary fibrosis, cystic fibrosis and primary ciliary dyskinesia. (grc.org)
In humans, CCDC103 mutations cause primary ciliary dyskinesia (PCD), a genetic syndrome characterized by bronchial scarring, chronic respiratory infections, and infertility. (auburn.edu)
SPEF2- and HYDIN -Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics. (bvsalud.org)
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous syndrome caused by defect in motile cilia. (journalmc.org)
Diagnosis of primary ciliary dyskinesia (PCD) still remains a challenge, especially with mutations in the Dynein Arm Heavy Chain 11 ( DNAH11 ) gene. (biomedcentral.com)
Primary Ciliary Dyskinesia: Ancestral Haplotypes Analysis of the RSPH4A Founder Mutation in Puerto Rico. (cdc.gov)
The Relationship between Genotype and Phenotype in Primary Ciliary Dyskinesia Patients. (cdc.gov)
Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience. (cdc.gov)
Case Report: Novel Biallelic Mutations in ARMC4 Cause Primary Ciliary Dyskinesia and Male Infertility in a Chinese Family. (cdc.gov)
Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia. (cdc.gov)
Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican RSPH4A Founder Mutation. (cdc.gov)
Longitudinal Lung Volume Changes by Ultrastructure and Genotype in Primary Ciliary Dyskinesia. (cdc.gov)
Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesia. (cdc.gov)
Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review. (cdc.gov)
High Nasal Nitric Oxide, Cilia Analyses, and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia. (cdc.gov)
recessive disorder consisting of the triad of Approximately 50 % of patients with SCD sinusitis, bronchiectasis and situs inversus with have laterality defects (including situs inversus dextrocardia and represents a subgroup of totalis and, less frequently, heterotaxy and primary ciliary dyskinesia (PCD). (bvsalud.org)
Congenital defects in mucociliary clearance such as primary ciliary dyskinesia (PCD) syndromes may also be a cause, explaining almost 3% of previously idiopathic cases. (msdmanuals.com)

Respiratory epithelial motile cilia, which resemble microscopic "hairs" (although structurally and biologically unrelated to hair), are complex organelles that beat synchronously in the respiratory tract, moving mucus toward the throat. (wikipedia.org)
PCD is a genetically heterogeneous disorder affecting motile cilia which are made up of approximately 250 proteins. (wikipedia.org)
Coiled-coil domain containing protein 103 is a homodimeric protein that functions as a dynein attachment factor in motile cilia. (auburn.edu)
Ccdc103 defects in zebrafish (Danio rerio) embryos lead to paralyzed motile cilia, pronephric cysts, hydrocephalus, and a curved body axis. (auburn.edu)
Motile cilia harbor serum response factor as a mechanism of environment sensing and injury response in the airway. (cdc.gov)
In contrast, motile cilia are traditionally viewed as mechanical machinery, vital for the movement of solutes and clearance of bacteria and debris, but not participants in cellular sensing and signaling mechanisms. (cdc.gov)
Recently, motile cilia were found to harbor receptors responsible for sensing and responding to environmental stimuli. (cdc.gov)
Using a mouse model of organic dust-induced airway inflammation, we found that the transcription factor serum response factor (SRF) localizes to motile cilia of airway epithelial cells and alters its localization in response to inflammatory stimuli. (cdc.gov)
These data reveal a novel mechanism by which a transcription factor localizes to motile cilia and modulates cell activities including cilia motility and inflammation response. (cdc.gov)
These data challenge current dogma regarding motile cilia functioning and may lead to significant contributions in understanding motile ciliary signaling dynamics, as well as mechanisms involving SRF-mediated responses to inflammation and injury. (cdc.gov)

Around 90% of individuals with PCD have ultrastructural defects affecting protein(s) in the outer and/or inner dynein arms, which give cilia their motility, with roughly 38% of these defects caused by mutations on two genes, DNAI1 and DNAH5, both of which code for proteins found in the ciliary outer dynein arm. (wikipedia.org)
Symptoms result from defective cilia motility. (medscape.com)
V1 and V2 impaired dynein-2 motility in vitro and perturbed IFT88 distribution within cilia. (nature.com)
The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts. (bvsalud.org)

Normally, cilia beat 7 to 22 times per second, and any impairment can result in poor mucociliary clearance, with subsequent upper and lower respiratory infection. (wikipedia.org)
These patients had poor mucociliary clearance because the cilia that lined their upper airways were not functioning. (medscape.com)

The estimated incidence of PCD is approximately 1 per 15,000 births, but the prevalence of PCD is difficult to determine, primarily because of limitations in diagnostic methods that focus on testing ciliary ultrastructure and function. (nih.gov)
The use of these complementary diagnostic approaches shows that at least 30% of patients with PCD have normal ciliary ultrastructure. (nih.gov)
By employing enhanced focused ion beam - scanning electron microscopy on samples with optimally preserved ultrastructure, we discovered synapses between the serotonergic axons arising from the brainstem, and the primary cilia of hippocampal CA1 pyramidal neurons. (janelia.org)
Thomas et al evaluated the epithelial ultrastructure and ciliary function of patients with varying degrees of asthma severity and healthy controls. (rcjournal.com)
In 1933, Kartagener described the PCD syndrome as the triad of situs inversus, bronchiectasis, and either nasal polyps or recurrent sinusitis, while the description by Afzelius in 1976 of the defects in the ultrastructure of ciliary dynein arms revealed the basis of this condition. (journalmc.org)

Current nomenclature classifies all congenital ciliary disorders as primary ciliary dyskinesias in order to differentiate them from acquired types. (medscape.com)
Kartagener syndrome is part of the larger group of disorders referred to as primary ciliary dyskinesias. (medscape.com)
Some studies have suggested a role for this protein in maintaining centriole-nucleated sensory organelles termed primary cilia, and AS is now considered to belong to the growing class of human genetic disorders linked to ciliary dysfunction (ciliopathies). (springer.com)
In vision, for example, mutations in the ciliary protein rhodopsin - which functions in initiating light sensing and photoreceptor formation - may lead to developmental disorders resulting in cell death and degeneration of the retina. (the-scientist.com)
Primary progressive multiple sclerosis (PPMS) and hereditary spastic paraplegia (HSP) are inherited disorders affecting nerves that send messages to the muscles. (rarediseasesnetwork.org)

These genes provide instructions for making proteins that form the inner structure of cilia and produce the force needed for cilia to bend. (medlineplus.gov)
Ciliary proteins specify the cell inflammatory response by tuning NFκB signalling, independently of primary cilia. (ox.ac.uk)
citation needed] There is an international effort to identify genes that code for inner dynein arm proteins or proteins from other ciliary structures (radial spokes, central apparatus, etc.) associated with PCD. (wikipedia.org)
Similarly, primary cilia have been implicated in regulation of mTOR signaling, in which Tuberous Sclerosis Complex proteins 1 and 2 (TSC1/2) negatively regulate protein synthesis by inactivating the mTOR complex 1 (mTORC1) at energy limiting states. (springer.com)
She said that problems with the localization of signaling proteins to the ciliary membranes and the subsequently disrupted membrane trafficking may be the key to problems with kidney function, vision, and other sensory pathways. (the-scientist.com)
This concept implies that olfactory receptor proteins are located in sensory cilia and in the axons. (jneurosci.org)

Because cilia have many important functions within the body, defects in these cell structures cause a variety of signs and symptoms. (medlineplus.gov)
Additionally, there may be chemical defects that interfere with ciliary function in the presence of adequate structure. (wikipedia.org)
Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD. (nih.gov)
Ciliopathies are due to defects in tiny structures - the primary cilia. (ekfs.de)
Functionally, these cilia are enriched in a ciliary-restricted serotonin receptor, 5-hydroxytryptamine receptor 6 (HTR6), whose mutation is associated with learning and memory defects. (janelia.org)
Studies in zebrafish demonstrated defects in cell migration, cell spreading, and primary cilia assembly in the presence of mutant OCRL1. (medscape.com)

The alternative name of "immotile ciliary syndrome" is no longer favored as the cilia do have movement, but are merely inefficient or unsynchronized. (wikipedia.org)
They described two patients with Kartagener syndrome who had immotile cilia and immotile spermatozoa. (medscape.com)
[ 4 ] used the descriptive phrase "immotile cilia syndrome" to characterize male patients with sterility and chronic respiratory infections. (medscape.com)

Loss of the PPM1H phosphatase that is specific for LRRK2-phosphorylated Rab GTPases yields the same cilia loss phenotype seen in mice expressing pathogenic LRRK2 kinase, strongly supporting a connection between Rab GTPase phosphorylation and cilia loss. (elifesciences.org)
The elongated cilium phenotype of Tsc1 −/− MEFs is likely due to increased mTORC1-dependent autophagic flux observed in these cells, as both the autophagic flux and the cilia length phenotype was restored by rapamycin. (springer.com)

Normal cilia (A) compared with cilia in Kartagener syndrome with missing dynein arms (B). Image courtesy of Wikimedia Commons. (medscape.com)

Structures that make up the cilia, including inner and/or outer dynein arms, central apparatus, radial spokes, etc. are missing or dysfunctional and thus the axoneme structure lacks the ability to move. (wikipedia.org)
The primary function of the central sheath, radial spokes, and nexin links is to maintain the structural integrity of the cilium, whereas the dynein arms are responsible for ciliary motion. (medscape.com)

The main consequence of impaired ciliary function is reduced or absent mucus clearance from the lungs, and susceptibility to chronic recurrent respiratory infections, including sinusitis, bronchitis, pneumonia, and otitis media. (wikipedia.org)
21 Ciliary function is also altered with chronic pulmonary disease such as asthma, COPD, and CF. The literature reports impaired ciliary function, and changes in the flow or surface properties of mucus contribute to impaired mucociliary transport during exacerbations of asthma, as well as with chronic bronchitis. (rcjournal.com)

In the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. (medlineplus.gov)
Cilia propel overlying mucus via a two-part ciliary beat cycle. (medscape.com)
Disease processes can impair ciliary function, alter secretion production and mucus rheology, and interfere with the cough reflex. (rcjournal.com)
There are a number of disease processes that impair ciliary function, alter secretion production and mucus rheology, and interfere with the cough reflex. (rcjournal.com)
This GRC will be held in conjunction with the "Cilia, Mucus and Mucociliary Interactions" Gordon Research Seminar (GRS). (grc.org)

Similar to observations in kidney epithelial cells, depletion of cilium-localized septins by siRNA-based approaches inhibited ciliogenesis. (crcm-marseille.fr)
While PCD may be suspected based on history, clinical signs, diagnostic imaging and endoscopy, final diagnosis requires the observation of ciliary structure abnormalities after ciliogenesis (i.e. culture of ciliated cells) of biopsies of ciliated epithelium (i.e. the nasal, tracheal or bronchial mucosa) with the use of transmission electron microscopy. (oldenglishsheepdogclubofamerica.org)
In addition, OCRL1 plays an important role in ciliogenesis by modulating trafficking of ciliary components into the cilium, presumably through binding with Rab8. (medscape.com)

They are involved in scaffolding functions, and form diffusion barriers in budding yeast, the sperm flagellum and the base of primary cilia of kidney epithelial cells. (crcm-marseille.fr)
A. Microscopic view of the respiratory mucosa consisting of ciliated epithelial cells (i.e. presence of cilia at their apical surface). (oldenglishsheepdogclubofamerica.org)
Furthermore, inhibition of SRF signaling using the small molecule CCG-1423 reduces organic dust-induced IL-8 release from bronchial epithelial cells and stimulates cilia beat frequency in ciliated mouse tracheal epithelial cells. (cdc.gov)
Immunohistochemical analyses reveal that SRF localizes to the cilia of mouse brain ependymal and ovarian epithelial cells as well. (cdc.gov)

Primary cilia are sensory organelles that coordinate multiple cellular signaling pathways, including Hedgehog (HH), Wingless/Int (WNT) and Transforming Growth Factor-β (TGF-β) signaling. (springer.com)
Nonmotile primary cilia are recognized as important sensory organelles during development and normal biological functioning. (cdc.gov)

Septins 2, 7 and 9 and MAP4 colocalize along the axoneme in the primary cilium and control ciliary length. (crcm-marseille.fr)
We investigated the role of septins in the primary cilium of retinal pigmented epithelial (RPE) cells, and found that SEPT2 forms a 1:1:1 complex with SEPT7 and SEPT9 and that the three members of this complex colocalize along the length of the axoneme. (crcm-marseille.fr)
MAP4, which is a binding partner of SEPT2 and controls the accessibility of septins to microtubules, was also localized to the axoneme where it appeared to negatively regulate ciliary length. (crcm-marseille.fr)
The typical ciliary axoneme consists of two central microtubules surrounded by 9 microtubular doublets. (medscape.com)
Normal ciliary axoneme with one central pair of microtubules (arrow) and nine peripheral microtubular doublets (arrow head). (oldenglishsheepdogclubofamerica.org)
Ciliary axoneme from a dog with PCD with central pair abnormalities. (oldenglishsheepdogclubofamerica.org)

Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. (medlineplus.gov)
Each ciliated cell gives rise to approximately 200 cilia that vary in length from 5-6 μm and decrease in size to 1-3 μm as the airway becomes smaller. (medscape.com)

Flagella are tail-like structures, similar to cilia, that propel sperm cells forward. (medlineplus.gov)
Axonemes are the elongated structures that make up cilia and flagella. (wikipedia.org)
Just above the base, the cilium is composed of microtubular triplets (previously doublets) without associated structures, but at the tip, only the B subunits remain. (medscape.com)
Cilia are hairlike structures that line the airways and protects the normal lung. (nih.gov)

The cilium is anchored at its base by cytoplasmic microtubules and a basal body comprised of a basal foot and rootlet. (medscape.com)
7 IFT is an important bidirectional transport of multisubunit protein complexes (IFT particles) along the axonemal microtubules that is essential to normal cilia assembly, function, and maintenance. (nature.com)

citation needed] Specialised monocilia known as nodal cilia are at the heart of this problem. (wikipedia.org)

Trials have also shown that there is a marked reduction in fertility in females with Kartagener's syndrome due to dysfunction of the oviductal cilia. (wikipedia.org)
Whatever the underlying cause, dysfunction of the cilia begins during and impacts the embryologic phase of development. (wikipedia.org)
In addition, many males with PCD have immobile spermatozoa or dysfunction of cilia in the epididymal duct, leading to infertility [ 5 ]. (ersjournals.com)

Biallelic variants in the cilia gene DYNC2H1 have been associated with two severe ciliopathies: Jeune asphyxiating thoracic dystrophy (JATD, MIM 613091) and short-rib polydactyly (SRP, MIM 613091) with only four documented cases of associated complex early retinal degeneration at ages 2 months, and 2, 5, and 11 years old. (nature.com)

[ 3 ] discovered that bronchial mucosal biopsy specimens from patients with similar respiratory complaints showed cilia that appeared abnormal and were poorly mobile. (medscape.com)

SAS1, CJP3: writing, En la evaluación médica se identificó dolor en los senos paranasales, dextrocardia y bronquiectasias, confirmados por los revising and editing. (bvsalud.org)

Cilia are microscopic, finger-like projections that stick out from the surface of cells. (medlineplus.gov)

Primary cilia are eyelash protrusion emanating from the cell surface that function as cellular antenna. (ekfs.de)
The aging process, tobacco use, and environmental exposures reduce the efficacy of ciliary structure and function. (rcjournal.com)

For example, recent work demonstrates that transcriptional regulators of the sonic hedgehog signaling pathway localize to primary cilia and participate in sensing and transducing signals regarding the cellular environment. (cdc.gov)

Robust multiciliogenesis occurred when notch signaling was inhibited and was confirmed by (i) the assembly of multiple pericentrin-stained centrioles at the apical surface, (ii) expression of transcription factor forkhead box protein J1, and (iii) presence of multiple acetylated tubulin-labeled cilia projections in individual cells. (ca.gov)
Kessler C, Ruschil C, Abdelhak A, Wilke C, Maleska A, Kuhle J, Krumbholz M, Kowarik MC, Schüle R. Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia Type 4. (rarediseasesnetwork.org)

Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes. (medlineplus.gov)
The ear infections are likely related to abnormal cilia within the inner ear. (medlineplus.gov)

A-C ) Quantification of cilia abundance ( A ), molecular layer thickness ( B ), and VGLUT2 puncta ( C ) across various Controls. (elifesciences.org)
Here, we will use techniques to resolve the molecular sequence of events in the cilium and how this information is transduced into the cell to cause cyst formation. (ekfs.de)
in the cilia recognizing odorous molecules from the environment and in the axons recognizing molecular cues in the olfactory bulb. (jneurosci.org)

In summary, our results support distinct functions of Tsc1 and Tsc2 in cellular signaling as the two genes affect ciliary length control and HH signaling via different mechanisms. (springer.com)
In ( B ), each point represents a singular measurement, three distinct primary fissures were included per group, 25 measurements were counted per animal. (elifesciences.org)
Axo-ciliary synapses serve as a distinct mechanism for neuromodulators to program neuron transcription through privileged access to the nuclear compartment. (janelia.org)
Individuals with PHTS show distinct neurobehavioral profiles, suggesting primary disruption of frontal lobe systems. (rarediseasesnetwork.org)

Coordinated back and forth movement of cilia is necessary for the normal functioning of many organs and tissues. (medlineplus.gov)
Afzelius proposed that normal ciliary beating is necessary for visceral rotation during embryonic development. (medscape.com)
Furthermore, we observed that Tsc1 − / − MEFs display significantly elongated cilia, whereas cilia in Tsc2 − / − MEFs were shorter than normal. (springer.com)

Previously, we showed that cholinergic interneurons of the dorsal striatum lose their cilia in R1441C LRRK2 mutant mice (Dhekne et al. (elifesciences.org)
Hedgehog signaling requires cilia, and loss of cilia in LRRK2 mutant rodents correlates with dysregulation of Hedgehog signaling as monitored by in situ hybridization of Gli1 and Gdnf transcripts. (elifesciences.org)

OCRL1 has been localized to the trans -Golgi network and various compartments of the endocytic pathway (traffic), where it is found in the clathrin-coated pits, clathrin-coated vesicles, variable functioning endosomes (early, signaling, recycling), and the basal body of primary cilia. (medscape.com)

Beulah studies patient craniofacial diseases with a genetic basis and modeling these in mice and the role of TNRC6A in primary microcephaly and CTBP1-ALPL in skeletal malformations. (nationwidechildrens.org)

Anatomy11

Organisms5

Diseases6

Chemicals and Drugs6

Analytical, Diagnostic and Therapeutic Techniques and Equipment2

Phenomena and Processes5

Information Science1

Dyskinesia51

Motile10

Motility4

Mucociliary clearance2

Ultrastructure5

Disorders5

Proteins6

Defects6

Immotile3

Phenotype2

Kartagener Syndrome1

Dynein arms2

Impaired ciliary function2

Mucus5

Ciliogenesis3

Epithelial cells4

Sensory organelles2

Axoneme6

Airway2

Structures4

Microtubules2

Nodal1

Dysfunction3

Ciliopathies1

Biopsy1

Dextrocardia1

Microscopic1

Function2

Localize1

Protein2

Abnormal2

Molecular3

Distinct4

Normal3

Mutant2

Basal1

Genetic1