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IFT140
PLATFORM ABSTRACTS Abstract Abstract Numbers Numbers Tuesday, November 6 41
Synergistic Genetic Interactions Between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models
Evaluation of Variability in Human Kidney Organoids
Cellular Ciliary Phenotyping Indicates Pathogenicity of Novel Variants in IFT140 and Confrms a Mainzer–Saldino Syndrome Diagnosis Machteld M
Blueprint Genetics Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel
Gene Ontology Functional Annotations and Pleiotropy
Partial Uniparental Isodisomy of Chromosome 16 Unmasks a Deleterious Biallelic Mutation in IFT140 That Causes Mainzer-Saldino Syndrome Benjamin M
HSP90-Incorporating Chaperome Networks As Biosensor for Disease-Related Pathways in Patient- Specific Midbrain Dopamine Neurons
IFT Trains in Different Stages of Assembly Queue at the Ciliary Base
Variation in Protein Coding Genes Identifies Information Flow
LCA) Anna Skorczyk‑Werner1* , Zuzanna Niedziela1,2, Marcin Stopa2 and Maciej Robert Krawczyński1,3
Leber Congenital Amaurosis/Early-Onset Severe
Statistical and Bioinformatic Analysis of Hemimethylation Patterns in Non-Small Cell Lung Cancer Shuying Sun1* , Austin Zane2, Carolyn Fulton3 and Jasmine Philipoom4
Asphyxiating Thoracic Dystrophy
Disruption of IFT Complex a Causes Cystic Kidneys Without Mitotic Spindle Misorientation
Compound Heterozygous IFT140 Variants in Two Polish Families With
DYNC2H1 Hypomorphic Or Retina-Predominant Variants Cause Nonsyndromic Retinal Degeneration
Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progr
Top View
Improved Structural Variant Interpretation for Hereditary Cancer Susceptibility Using Long-Read Sequencing
Dynein-2 Intermediate Chains Play Crucial but Distinct Roles in Primary
IFT140 Gene Intraflagellar Transport 140
Compound Heterozygous Variants in IFT140 As a Cause of Nonsyndromic Retinitis Pigmentosa
Jeune Syndrome with Renal Failure
Mainzer-Saldino Syndrome
Whole-Genome Sequencing in Patients with Ciliopathies Uncovers
Current Concepts of Genotype-Phenotype Correlations
IFT140 with Non-Syndromic Retinal Dystrophy Or CRX with Macular Dystrophy
Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60
An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials
Downloaded from Placed in a Duplication Node More Closely Related to the the Gene Ontology’S Archive of MGI Gafs [52]
Mainzer-Saldino Syndrome Is a Ciliopathy Caused by Mutations In
The Intraflagellar Transport Protein IFT57 Is Required for Cilia Maintenance and Regulates IFT-Particle– Kinesin-II Dissociation in Vertebrate Photoreceptors
A Novel Combination of Biallelic IFT122 Variants Associated with Cranioectodermal Dysplasia: a Case Report
Transcriptomic Changes in the Pre-Implantation Uterus Highlight
Exome Sequencing Identifies DYNC2H1 Mutations As a Common
Retinal Gene Distribution and Functionality Implicated in Inherited Retinal Degenerations Can Reveal Disease-Relevant Pathways for Pharmacologic Intervention
Nonsyndromic Retinal Dystrophy Due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140
Novel Genes Involved in Etiopathogenesis Of
IFT140 (NM 014714) Human Tagged ORF Clone – RC207528L4 | Origene
Cilia Interactome with Predicted Protein–Protein Interactions Reveals Connections to Alzheimer’S Disease, Aging and Other Neuropsychiatric Processes Kalyani B
TCTEX1D2 Mutations Underlie Jeune Asphyxiating Thoracic Dystrophy with Impaired Retrograde Intraflagellar Transport
IFT140 Polyclonal Antibody Purified Rabbit Polyclonal Antibody (Pab) Catalog # AP56040
Gene Therapy for Inherited Retinal Disease
Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients with Infantile Nystagmus Syndrome
The Ophthalmic Phenotype of IFT140-Related Ciliopathy Ranges
Exome Sequencing Identifies DYNC2H1 Mutations As a Common Cause of Asphyxiating Thoracic Dystrophy
Clinical Genetics and Pathobiology of Ciliary Chondrodysplasias
Common and Distinct Transcriptional Signatures of Mammalian Embryonic Lethality