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Ciliopathy
Ciliopathiesneuromuscularciliopathies Disorders Disorders Ciliopathiesciliopathies
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Intraflagellar Transport Proteins Are Essential for Cilia Formation and for Planar Cell Polarity
A Ciliopathy-Associated COPD Endotype
Ciliary Dysfunction Secondary to COVID-19. Explanation of the Pathogenesis from Analysis of Human Interactome with SARS
The Ciliopathy-Associated CPLANE Proteins Direct Basal Body Recruitment of Intraflagellar Transport Machinery
Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients
Adipose Tissue Malfunction Drives Metabolic Dysfunction in Alström Syndrome
The Ciliopathy Gene Ftm/Rpgrip1l Controls Mouse Forebrain Patterning Via Region-Specific Modulation of Hedgehog/Gli Signaling
Non-Commercial Use Only
Targeted Exon Skipping of a CEP290 Mutation Rescues Joubert Syndrome Phenotypes in Vitro and in a Murine Model
Ciliopathies
The C175R Mutation Alters Nuclear Localization and Transcriptional Activity of the Nephronophthisis NPHP7 Gene Product
Ciliopathies: CPLANE Regulates Intraflagellar Transport
Blueprint Genetics Ciliopathy Panel
Ciliopathies: Genetics in Pediatric Medicine
The Ciliopathy Gene Product Cep290 Is Required for Primary Cilium Formation and Microtubule Network Organization
The Bardet–Biedl Syndrome Protein Complex Is an Adapter Expanding
Top View
Cutaneous Findings in Bardet‐Biedl Syndrome
Replication Stress-Induced DNA Damage in Renal Ciliopathies
Ciliopathies
Autophagy and Regulation of Cilia Function and Assembly
Adipose Tissue Malfunctioning and Alstrom Syndrome
Integrated Genomics Analysis Identi Es Recessive Ciliopathy Mutations in Primary Endocardial Fibroelastosis
Oral-Facial-Digital Syndromes by Joseph R Siebert Phd (Dr
Primary Ciliary Dyskinesia Diagnostic Challenges: Understanding the Clinical Phenotype of the Puerto Rican RSPH4A Founder Mutation
Update on Oral-Facial-Digital Syndromes
Bardet-Biedl Syndrome
Nephronophthisis: Disease Mechanisms of a Ciliopathy
The Oral–Facial–Digital Syndromes Result from the Pleiotropic Effect of a Morphogenetic Im- Pairment Affecting Almost Invariably the Mouth, Face and Digits
Primary Ciliary Dyskinesia
Mechanistic Insights Into Bardet-Biedl Syndrome, a Model Ciliopathy
The Role of Primary Cilia in Skeletal Muscle
Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease
Rpgrip1l Controls Ciliary Gating by Ensuring the Proper Amount of Cep290 at the Vertebrate Transition Zone
Ciliopathies
Ciliopathies Gene Panel
Title: Oral-Facial-Digital Syndrome Type 1 Genereview – Table 1 Authors
Cell-Based Assay for Ciliopathy Patients to Improve Accurate Diagnosis Using ALPACA
Diagnosis and Management of Ciliopathies
Deletion in the Bardet–Biedl Syndrome Gene TTC8 Results in a Syndromic Retinal Degeneration in Dogs
MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome
Defining the Molecular Mechanisms of Cep290 Disease Pathogenesis
Altered Hematopoietic System and Self-Tolerance in Bardet-Biedl Syndrome
Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing
Interpreting the Clinical Significance of Combined Variants In
Characterising a Novel Mouse Model with a Mutated Ciliopathy Gene (Cep290) Leading to Joubert Syndrome
Molecular Dysregulation of Ciliary Polycystin-2 Channels Caused by Variants in the TOP Domain
Biedl Syndrome
A Common Allele in RPGRIP1L Is a Modifier of Retinal Degeneration in Ciliopathies
Understanding Primary Ciliary Dyskinesia and Other Ciliopathies
Nephronophthisis-A Genetic Cause of Ciliopathy
Eupatilin Rescues Ciliary Transition Zone Defects to Ameliorate Ciliopathy-Related Phenotypes
Exploring the Spectrum of Kidney Ciliopathies
Ciliopathies - from Rare Inherited Cystic Kidney Diseases to Basic Cellular Function Sandra Habbig1,2 and Max Christoph Liebau1,2*
A Liquid-Like Organelle at the Root of Motile Ciliopathy
Blueprint Genetics Primary Ciliary Dyskinesia Panel